gene chromosome coordinate alleles af vs_transcript vs_consequence vs_hgvsc vs_hgvsp vep_transcript vep_consequence vep_hgvsc vep_hgvsp vep_gene RUNX1 21 36164405 T/T 37.06 NM_001754.4 3_prime_UTR_variant NM_001754.4:c.*27C>A NA NM_001754.4 3_prime_UTR_variant NM_001754.4:c.*27C>A NA RUNX1 EZH2 7 148504716 AG/A 0 NM_004456.4 3_prime_UTR_variant NM_004456.4:c.*21delC NA NM_004456.4 3_prime_UTR_variant NM_004456.4:c.*21delC NA EZH2 SUFU 10 104389932 G/G 0.26 NM_016169.3 3_prime_UTR_variant NM_016169.3:c.*20T>G NA NM_016169.3 3_prime_UTR_variant NM_016169.3:c.*20T>G NA SUFU CHEK2 22 29083837 T/A 0 NM_001005735.1 3_prime_UTR_variant NM_001005735.1:c.*48A>T NA NM_007194.3 3_prime_UTR_variant NM_007194.3:c.*48A>T NA CHEK2 ZNF276,FANCA 16 89805977 G/A 46.19 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1323G>A NA NM_000135.2 intron_variant NM_000135.2:c.3935-16C>T NA FANCA ZNF276,FANCA 16 89805261 G/G 14.92 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*607A>G NA NM_000135.2 intron_variant NM_000135.2:c.4260+29T>C NA FANCA EZH2 7 148504716 A/A 0 NM_004456.4 3_prime_UTR_variant NM_004456.4:c.*21delC NA NM_004456.4 3_prime_UTR_variant NM_004456.4:c.*21delC NA EZH2 MLH1 3 37092173 GTTC/G 0 NM_000249.3 3_prime_UTR_variant NM_000249.3:c.*35_*37delCTT NA NM_000249.3 3_prime_UTR_variant NM_000249.3:c.*35_*37delCTT NA MLH1 FANCA 16 89807233 C/G 13.8 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2579C>G NA NM_000135.2 synonymous_variant NM_000135.2:c.3807G>C NP_000126.2:p.Leu1269%3D FANCA ZNF276,FANCA 16 89805261 A/G 14.92 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*607A>G NA NM_000135.2 intron_variant NM_000135.2:c.4260+29T>C NA FANCA ZNF276,FANCA 16 89805977 A/A 46.19 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1323G>A NA NM_000135.2 intron_variant NM_000135.2:c.3935-16C>T NA FANCA TSC2 16 2138615 C/G 0 NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*4C>G NA NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*4C>G NA TSC2 RUNX1 21 36164405 G/T 37.06 NM_001754.4 3_prime_UTR_variant NM_001754.4:c.*27C>A NA NM_001754.4 3_prime_UTR_variant NM_001754.4:c.*27C>A NA RUNX1 ZNF276,FANCA 16 89805045 A/C 0.02 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*391A>C NA NM_000135.2 synonymous_variant NM_000135.2:c.4332T>G NP_000126.2:p.Pro1444%3D FANCA FANCA 16 89806477 C/T 2.66 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1823C>T NA NM_000135.2 missense_variant NM_000135.2:c.3859G>A NP_000126.2:p.Val1287Ile FANCA ZNF276,FANCA 16 89805950 C/G 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1296C>G NA NM_000135.2 missense_variant NM_000135.2:c.3946G>C NP_000126.2:p.Gly1316Arg FANCA PRF1 10 72357763 A/G 0.26 NM_005041.4 3_prime_UTR_variant NM_005041.4:c.*46T>C NA NM_005041.4 3_prime_UTR_variant NM_005041.4:c.*46T>C NA PRF1 FANCA 16 89807249 GAGA/G 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2603_*2605delGAA NA NM_000135.2 inframe_deletion NM_000135.2:c.3788_3790delTCT NP_000126.2:p.Phe1263del FANCA SMAD4 18 48604848 C/T 0.4 NM_005359.5 3_prime_UTR_variant NM_005359.5:c.*11C>T NA NM_005359.5 3_prime_UTR_variant NM_005359.5:c.*11C>T NA SMAD4 ZNF276,FANCA 16 89805734 T/G 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1080T>G NA NM_000135.2 intron_variant NM_000135.2:c.4011-37A>C NA FANCA CEBPA 19 33792207 C/T 0 NM_004364.3 3_prime_UTR_variant NM_004364.3:c.*37G>A NA NM_004364.3 3_prime_UTR_variant NM_004364.3:c.*37G>A NA CEBPA CDC73 1 193219854 C/A 0.04 NM_024529.4 3_prime_UTR_variant NM_024529.4:c.*12C>A NA NM_024529.4 3_prime_UTR_variant NM_024529.4:c.*12C>A NA CDC73 TSC2 16 2138655 T/TGTCA 0 NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*47_*50dupCAGT NA NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*47_*50dupCAGT NA TSC2 SBDS 7 66453348 T/C 0 NM_016038.2 3_prime_UTR_variant NM_016038.2:c.*10A>G NA NM_016038.2 3_prime_UTR_variant NM_016038.2:c.*10A>G NA SBDS FANCA 16 89806435 A/T 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1781A>T NA NM_000135.2 missense_variant NM_000135.2:c.3901T>A NP_000126.2:p.Ser1301Thr FANCA ZNF276,FANCA 16 89805914 T/C 7.23 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1260T>C NA NM_000135.2 missense_variant NM_000135.2:c.3982A>G NP_000126.2:p.Thr1328Ala FANCA STK11 19 1226654 C/T 0 NM_000455.4 3_prime_UTR_variant NM_000455.4:c.*8C>T NA NM_000455.4 3_prime_UTR_variant NM_000455.4:c.*8C>T NA STK11 SDHAF2 11 61213555 C/T 0.22 NM_017841.2 3_prime_UTR_variant NM_017841.2:c.*12C>T NA NM_017841.2 3_prime_UTR_variant NM_017841.2:c.*12C>T NA SDHAF2 EGFR 7 55273351 C/T 0.02 NM_005228.3 3_prime_UTR_variant NM_005228.3:c.*41C>T NA NM_005228.3 3_prime_UTR_variant NM_005228.3:c.*41C>T NA EGFR ATM,C11ORF65 11 108236264 C/G 0.62 NM_000051.3 3_prime_UTR_variant NM_000051.3:c.*29C>G NA NM_000051.3 3_prime_UTR_variant NM_000051.3:c.*29C>G NA ATM FANCA 16 89807232 A/T 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2578A>T NA NM_000135.2 missense_variant NM_000135.2:c.3808T>A NP_000126.2:p.Ser1270Thr FANCA FANCA 16 89807233 C/T 13.8 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2579C>T NA NM_000135.2 synonymous_variant NM_000135.2:c.3807G>A NP_000126.2:p.Leu1269%3D FANCA MLH1 3 37092176 C/T 0.1 NM_000249.3 3_prime_UTR_variant NM_000249.3:c.*32C>T NA NM_000249.3 3_prime_UTR_variant NM_000249.3:c.*32C>T NA MLH1 FANCA 16 89807230 C/T 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2576C>T NA NM_000135.2 synonymous_variant NM_000135.2:c.3810G>A NP_000126.2:p.Ser1270%3D FANCA MET 7 116436198 C/G 0 NM_001127500.1 3_prime_UTR_variant NM_001127500.1:c.*20C>G NA NM_000245.2 3_prime_UTR_variant NM_000245.2:c.*20C>G NA MET EPCAM 2 47613768 A/G 0.24 NM_002354.2 3_prime_UTR_variant NM_002354.2:c.*16A>G NA NM_002354.2 3_prime_UTR_variant NM_002354.2:c.*16A>G NA EPCAM ZNF276,FANCA 16 89805408 A/T 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*754A>T NA NM_000135.2 intron_variant NM_000135.2:c.4168-26T>A NA FANCA FANCA 16 89807239 G/A 0.02 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2585G>A NA NM_000135.2 synonymous_variant NM_000135.2:c.3801C>T NP_000126.2:p.Gly1267%3D FANCA RUNX1 21 36164388 G/C 0.12 NM_001754.4 3_prime_UTR_variant NM_001754.4:c.*44C>G NA NM_001754.4 3_prime_UTR_variant NM_001754.4:c.*44C>G NA RUNX1 ERCC3 2 128015143 G/A 0.24 NM_000122.1 3_prime_UTR_variant NM_000122.1:c.*29C>T NA NM_000122.1 3_prime_UTR_variant NM_000122.1:c.*29C>T NA ERCC3 FANCC 9 97863947 C/T 2.33 NM_000136.2 3_prime_UTR_variant NM_000136.2:c.*42G>A NA NM_000136.2 3_prime_UTR_variant NM_000136.2:c.*42G>A NA FANCC ZNF276,FANCA 16 89805935 G/T 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1281G>T NA NM_000135.2 missense_variant NM_000135.2:c.3961C>A NP_000126.2:p.Arg1321Ser FANCA ZNF276,FANCA 16 89805495 G/A 0.1 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*841G>A NA NM_000135.2 intron_variant NM_000135.2:c.4167+46C>T NA FANCA FANCB X 14861656 A/G 0.13 NM_152633.2 3_prime_UTR_variant NM_152633.2:c.*33T>C NA NM_152633.2 3_prime_UTR_variant NM_152633.2:c.*33T>C NA FANCB BLM 15 91358560 A/T 0 NM_000057.2 3_prime_UTR_variant NM_000057.2:c.*51A>T NA NM_000057.2 3_prime_UTR_variant NM_000057.2:c.*51A>T NA BLM ZNF276,FANCA 16 89805301 G/C 0.3 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*647G>C NA NM_000135.2 missense_variant NM_000135.2:c.4249C>G NP_000126.2:p.His1417Asp FANCA PRKAR1A 17 66526629 T/G 0 NM_212471.2 3_prime_UTR_variant NM_212471.2:c.*39T>G NA NM_002734.4 3_prime_UTR_variant NM_002734.4:c.*39T>G NA PRKAR1A ZNF276,FANCA 16 89805125 G/C 0.02 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*471G>C NA NM_000135.2 intron_variant NM_000135.2:c.4261-9C>G NA FANCA ZNF276,FANCA 16 89805745 T/A 0.04 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1091T>A NA NM_000135.2 intron_variant NM_000135.2:c.4011-48A>T NA FANCA DIS3L2 2 233201378 T/C 0.02 NM_152383.4 3_prime_UTR_variant NM_152383.4:c.*38T>C NA NM_152383.4 3_prime_UTR_variant NM_152383.4:c.*38T>C NA DIS3L2 PMS1 2 190742172 T/A 2.83 NM_000534.4 3_prime_UTR_variant NM_000534.4:c.*10T>A NA NM_000534.4 3_prime_UTR_variant NM_000534.4:c.*10T>A NA PMS1 FANCD2,FANCD2OS 3 10140671 A/A 34.52 NM_033084.3 3_prime_UTR_variant NM_033084.3:c.*37G>A NA NM_033084.3 3_prime_UTR_variant NM_033084.3:c.*37G>A NA FANCD2 TSC2 16 2138662 GAAAT/G 0 NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*59_*62delTAAA NA NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*59_*62delTAAA NA TSC2 FANCB X 14861675 A/G 2.22 NM_152633.2 3_prime_UTR_variant NM_152633.2:c.*14T>C NA NM_152633.2 3_prime_UTR_variant NM_152633.2:c.*14T>C NA FANCB GATA2 3 128199830 G/A 0 NM_032638.4 3_prime_UTR_variant NM_032638.4:c.*32C>T NA NM_032638.4 3_prime_UTR_variant NM_032638.4:c.*32C>T NA GATA2 RET 10 43623746 C/A 0.02 NM_020975.4 3_prime_UTR_variant NM_020975.4:c.*29C>A NA NM_020975.4 3_prime_UTR_variant NM_020975.4:c.*29C>A NA RET ERCC3 2 128015140 G/A 0 NM_000122.1 3_prime_UTR_variant NM_000122.1:c.*32C>T NA NM_000122.1 3_prime_UTR_variant NM_000122.1:c.*32C>T NA ERCC3 BIVM-ERCC5,ERCC5 13 103528274 ATAAT/A 0 NM_001204425.1 3_prime_UTR_variant NM_001204425.1:c.*24_*27delATTA NA NM_000123.3 3_prime_UTR_variant NM_000123.3:c.*24_*27delATTA NA ERCC5 RAD51C 17 56811608 C/G 2.2 NM_058216.2 3_prime_UTR_variant NM_058216.2:c.*25C>G NA NM_058216.2 3_prime_UTR_variant NM_058216.2:c.*25C>G NA RAD51C FANCD2,FANCD2OS 3 10140671 G/A 34.52 NM_033084.3 3_prime_UTR_variant NM_033084.3:c.*37G>A NA NM_033084.3 3_prime_UTR_variant NM_033084.3:c.*37G>A NA FANCD2 AIP 11 67258578 G/C 0.06 NM_003977.2 3_prime_UTR_variant NM_003977.2:c.*114G>C NA NM_003977.2 3_prime_UTR_variant NM_003977.2:c.*114G>C NA AIP AIP 11 67258524 G/C 2.02 NM_003977.2 3_prime_UTR_variant NM_003977.2:c.*60G>C NA NM_003977.2 3_prime_UTR_variant NM_003977.2:c.*60G>C NA AIP WT1 11 32410553 G/A 0 NM_024426.4 3_prime_UTR_variant NM_024426.4:c.*51C>T NA NM_024426.4 3_prime_UTR_variant NM_024426.4:c.*51C>T NA WT1 ATM,C11ORF65 11 108236279 A/G 0.28 NM_000051.3 3_prime_UTR_variant NM_000051.3:c.*44A>G NA NM_000051.3 3_prime_UTR_variant NM_000051.3:c.*44A>G NA ATM GPC3 X 132670144 C/A 0 NM_001164617.1 3_prime_UTR_variant NM_001164617.1:c.*8G>T NA NM_004484.3 3_prime_UTR_variant NM_004484.3:c.*8G>T NA GPC3 PHOX2B 4 41747805 G/T 0 NM_003924.3 3_prime_UTR_variant NM_003924.3:c.*19C>A NA NM_003924.3 3_prime_UTR_variant NM_003924.3:c.*19C>A NA PHOX2B PHOX2B 4 41747806 C/T 0 NM_003924.3 3_prime_UTR_variant NM_003924.3:c.*18G>A NA NM_003924.3 3_prime_UTR_variant NM_003924.3:c.*18G>A NA PHOX2B BRCA1 17 41197649 GC/G 0 NM_007300.3 3_prime_UTR_variant NM_007300.3:c.*45delG NA NM_007294.3 3_prime_UTR_variant NM_007294.3:c.*45delG NA BRCA1 EXT2 11 44265850 G/A 0 NM_000401.3 3_prime_UTR_variant NM_000401.3:c.*13G>A NA NM_207122.1 3_prime_UTR_variant NM_207122.1:c.*13G>A NA EXT2 ALK 2 29416048 T/C 0 NM_004304.4 3_prime_UTR_variant NM_004304.4:c.*42A>G NA NM_004304.4 3_prime_UTR_variant NM_004304.4:c.*42A>G NA ALK HNF1A 12 121439035 G/C 0 NM_000545.5 3_prime_UTR_variant NM_000545.5:c.*40G>C NA NM_000545.5 3_prime_UTR_variant NM_000545.5:c.*40G>C NA HNF1A VRK2,FANCL 2 58386928 G/GTAAT 0 NM_006296.6 3_prime_UTR_variant NM_006296.6:c.*102_*105dupAATT NA NM_018062.3 frameshift_variant NM_018062.3:c.1096_1099dupATTA NP_060532.2:p.Thr367AsnfsTer13 FANCL CYLD 16 50830466 G/A 0.1 NM_015247.2 3_prime_UTR_variant NM_015247.2:c.*47G>A NA NM_001042412.1 3_prime_UTR_variant NM_001042412.1:c.*47G>A NA CYLD FANCA 16 89807215 T/C 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2561T>C NA NM_000135.2 synonymous_variant NM_000135.2:c.3825A>G NP_000126.2:p.Ser1275%3D FANCA FANCA 16 89807233 G/G 13.8 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2579C>G NA NM_000135.2 synonymous_variant NM_000135.2:c.3807G>C NP_000126.2:p.Leu1269%3D FANCA CHEK2 22 29083881 G/A 0 NM_001005735.1 3_prime_UTR_variant NM_001005735.1:c.*4C>T NA NM_007194.3 3_prime_UTR_variant NM_007194.3:c.*4C>T NA CHEK2 FANCA 16 89807221 C/A 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*2567C>A NA NM_000135.2 synonymous_variant NM_000135.2:c.3819G>T NP_000126.2:p.Leu1273%3D FANCA DIS3L2 2 233201353 G/A 0.22 NM_152383.4 3_prime_UTR_variant NM_152383.4:c.*13G>A NA NM_152383.4 3_prime_UTR_variant NM_152383.4:c.*13G>A NA DIS3L2 ZNF276,FANCA 16 89805897 G/A 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1243G>A NA NM_000135.2 synonymous_variant NM_000135.2:c.3999C>T NP_000126.2:p.Phe1333%3D FANCA NF2 22 30090795 G/A 0.28 NM_000268.3 3_prime_UTR_variant NM_000268.3:c.*4G>A NA NM_000268.3 3_prime_UTR_variant NM_000268.3:c.*4G>A NA NF2 BUB1B,PAK6 15 40513004 T/C 0 NM_001211.5 3_prime_UTR_variant NM_001211.5:c.*44T>C NA NM_001211.5 3_prime_UTR_variant NM_001211.5:c.*44T>C NA BUB1B NF2 22 30090814 A/G 0 NM_000268.3 3_prime_UTR_variant NM_000268.3:c.*23A>G NA NM_000268.3 3_prime_UTR_variant NM_000268.3:c.*23A>G NA NF2 EPCAM 2 47613788 G/A 1.74 NM_002354.2 3_prime_UTR_variant NM_002354.2:c.*36G>A NA NM_002354.2 3_prime_UTR_variant NM_002354.2:c.*36G>A NA EPCAM TP53 17 7572906 G/A 0 NM_000546.5 3_prime_UTR_variant NM_000546.5:c.*21C>T NA NM_000546.5 3_prime_UTR_variant NM_000546.5:c.*21C>T NA TP53 DIS3L2 2 233201350 GCCGCCTGCC/G 0 NM_152383.4 3_prime_UTR_variant NM_152383.4:c.*29_*37delCCGCCTGCC NA NM_152383.4 3_prime_UTR_variant NM_152383.4:c.*29_*37delCCGCCTGCC NA DIS3L2 ZNF276,FANCA 16 89805239 T/C 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*585T>C NA NM_000135.2 intron_variant NM_000135.2:c.4260+51A>G NA FANCA MSH6 2 48034022 A/G 0 NM_000179.2 3_prime_UTR_variant NM_000179.2:c.*23A>G NA NM_000179.2 3_prime_UTR_variant NM_000179.2:c.*23A>G NA MSH6 CYLD 16 50830471 A/G 0 NM_015247.2 3_prime_UTR_variant NM_015247.2:c.*52A>G NA NM_001042412.1 3_prime_UTR_variant NM_001042412.1:c.*52A>G NA CYLD ZNF276,FANCA 16 89805915 G/A 0.02 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1261G>A NA NM_000135.2 synonymous_variant NM_000135.2:c.3981C>T NP_000126.2:p.His1327%3D FANCA SUFU 10 104389932 T/G 0.26 NM_016169.3 3_prime_UTR_variant NM_016169.3:c.*20T>G NA NM_016169.3 3_prime_UTR_variant NM_016169.3:c.*20T>G NA SUFU NSD1 5 176722462 A/G 0 NM_022455.4 3_prime_UTR_variant NM_022455.4:c.*2A>G NA NM_022455.4 3_prime_UTR_variant NM_022455.4:c.*2A>G NA NSD1 ZNF276,FANCA 16 89805241 T/C 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*587T>C NA NM_000135.2 intron_variant NM_000135.2:c.4260+49A>G NA FANCA CEP57 11 95564461 C/T 0 NM_014679.4 3_prime_UTR_variant NM_014679.4:c.*41C>T NA NM_014679.4 3_prime_UTR_variant NM_014679.4:c.*41C>T NA CEP57 TSC2 16 2138623 T/G 0.06 NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*12T>G NA NM_000548.3 3_prime_UTR_variant NM_000548.3:c.*12T>G NA TSC2 ZNF276,FANCA 16 89805738 G/A 0 NM_001113525.1 3_prime_UTR_variant NM_001113525.1:c.*1084G>A NA NM_000135.2 intron_variant NM_000135.2:c.4011-41C>T NA FANCA RHBDF2 17 74477620 T/T 14.98 NM_024599.5 5_prime_UTR_variant NM_024599.5:c.-14G>A NA NM_001005498.3 5_prime_UTR_variant NM_001005498.3:c.-14G>A NA RHBDF2 XPC 3 14220095 C/G 32.79 NM_004628.4 5_prime_UTR_variant NM_004628.4:c.-27G>C NA NM_004628.4 5_prime_UTR_variant NM_004628.4:c.-27G>C NA XPC XPA 9 100459578 C/C 35.36 NM_000380.3 5_prime_UTR_variant NM_000380.3:c.-4A>G NA NM_000380.3 5_prime_UTR_variant NM_000380.3:c.-4A>G NA XPA FANCF 11 22647366 G/A 11.38 NM_022725.3 5_prime_UTR_variant NM_022725.3:c.-10C>T NA NM_022725.3 5_prime_UTR_variant NM_022725.3:c.-10C>T NA FANCF XPC 3 14220095 G/G 32.79 NM_004628.4 5_prime_UTR_variant NM_004628.4:c.-27G>C NA NM_004628.4 5_prime_UTR_variant NM_004628.4:c.-27G>C NA XPC XPA 9 100459578 T/C 35.36 NM_000380.3 5_prime_UTR_variant NM_000380.3:c.-4A>G NA NM_000380.3 5_prime_UTR_variant NM_000380.3:c.-4A>G NA XPA PALB2 16 23652525 C/T 6.63 NM_024675.3 5_prime_UTR_variant NM_024675.3:c.-47G>A NA NM_024675.3 5_prime_UTR_variant NM_024675.3:c.-47G>A NA PALB2 RHBDF2 17 74477620 C/T 14.98 NM_024599.5 5_prime_UTR_variant NM_024599.5:c.-14G>A NA NM_001005498.3 5_prime_UTR_variant NM_001005498.3:c.-14G>A NA RHBDF2 HRAS 11 534332 G/A 3.57 NM_005343.2 5_prime_UTR_variant NM_005343.2:c.-10C>T NA NM_005343.2 5_prime_UTR_variant NM_005343.2:c.-10C>T NA HRAS FANCF 11 22647366 A/A 11.38 NM_022725.3 5_prime_UTR_variant NM_022725.3:c.-10C>T NA NM_022725.3 5_prime_UTR_variant NM_022725.3:c.-10C>T NA FANCF EPCAM 2 47596605 C/T 0 NM_002354.2 5_prime_UTR_variant NM_002354.2:c.-40C>T NA NM_002354.2 5_prime_UTR_variant NM_002354.2:c.-40C>T NA EPCAM KIT 4 55524168 T/A 0.22 NM_000222.2 5_prime_UTR_variant NM_000222.2:c.-14T>A NA NM_000222.2 5_prime_UTR_variant NM_000222.2:c.-14T>A NA KIT BUB1B 15 40453380 A/G 0.44 NM_001211.5 5_prime_UTR_variant NM_001211.5:c.-42A>G NA NM_001211.5 5_prime_UTR_variant NM_001211.5:c.-42A>G NA BUB1B HRAS 11 534332 A/A 3.57 NM_005343.2 5_prime_UTR_variant NM_005343.2:c.-10C>T NA NM_005343.2 5_prime_UTR_variant NM_005343.2:c.-10C>T NA HRAS ALK 2 30143530 C/T 0.62 NM_004304.4 5_prime_UTR_variant NM_004304.4:c.-5G>A NA NM_004304.4 5_prime_UTR_variant NM_004304.4:c.-5G>A NA ALK TSC1 9 135804266 G/A 0.04 NM_000368.4 5_prime_UTR_variant NM_000368.4:c.-7C>T NA NM_000368.4 5_prime_UTR_variant NM_000368.4:c.-7C>T NA TSC1 NBN 8 90996819 G/A 0 NM_002485.4 5_prime_UTR_variant NM_002485.4:c.-30C>T NA NM_002485.4 5_prime_UTR_variant NM_002485.4:c.-30C>T NA NBN FANCE 6 35420304 G/C 0 NM_021922.2 5_prime_UTR_variant NM_021922.2:c.-19G>C NA NM_021922.2 5_prime_UTR_variant NM_021922.2:c.-19G>C NA FANCE CDH1 16 68771293 C/T 0 NM_004360.3 5_prime_UTR_variant NM_004360.3:c.-26C>T NA NM_004360.3 5_prime_UTR_variant NM_004360.3:c.-26C>T NA CDH1 MSH6 2 48010355 G/T 0.04 NM_000179.2 5_prime_UTR_variant NM_000179.2:c.-18G>T NA NM_000179.2 5_prime_UTR_variant NM_000179.2:c.-18G>T NA MSH6 RECQL4 8 145743205 G/T 0.4 NM_004260.3 5_prime_UTR_variant NM_004260.3:c.-37C>A NA NM_004260.3 5_prime_UTR_variant NM_004260.3:c.-37C>A NA RECQL4 CDC73 1 193091320 G/GT 0.1 NM_024529.4 5_prime_UTR_variant NM_024529.4:c.-11_-10insT NA NM_024529.4 5_prime_UTR_variant NM_024529.4:c.-11_-10insT NA CDC73 HNF1A 12 121416568 A/G 0.12 NM_000545.5 5_prime_UTR_variant NM_000545.5:c.-4A>G NA NM_000545.5 5_prime_UTR_variant NM_000545.5:c.-4A>G NA HNF1A FANCF 11 22647377 T/C 0 NM_022725.3 5_prime_UTR_variant NM_022725.3:c.-21A>G NA NM_022725.3 5_prime_UTR_variant NM_022725.3:c.-21A>G NA FANCF BMPR1A 10 88635751 A/G 1.58 NM_004329.2 5_prime_UTR_variant NM_004329.2:c.-25A>G NA NM_004329.2 5_prime_UTR_variant NM_004329.2:c.-25A>G NA BMPR1A AIP 11 67250566 A/G 0 NM_003977.2 5_prime_UTR_variant NM_003977.2:c.-64A>G NA NM_003977.2 5_prime_UTR_variant NM_003977.2:c.-64A>G NA AIP SDHB 1 17380551 A/G 0.56 NM_003000.2 5_prime_UTR_variant NM_003000.2:c.-37T>C NA NM_003000.2 5_prime_UTR_variant NM_003000.2:c.-37T>C NA SDHB MSH2 2 47630302 C/T 0.02 NM_000251.2 5_prime_UTR_variant NM_000251.2:c.-29C>T NA NM_000251.2 5_prime_UTR_variant NM_000251.2:c.-29C>T NA MSH2 NSD1 5 176562097 G/A 1.04 NM_022455.4 5_prime_UTR_variant NM_022455.4:c.-8G>A NA NM_022455.4 5_prime_UTR_variant NM_022455.4:c.-8G>A NA NSD1 ERCC2 19 45873822 G/T 0.04 NM_000400.3 5_prime_UTR_variant NM_000400.3:c.-24C>A NA NM_000400.3 5_prime_UTR_variant NM_000400.3:c.-24C>A NA ERCC2 XPC 3 14220112 G/T 0.08 NM_004628.4 5_prime_UTR_variant NM_004628.4:c.-44C>A NA NM_004628.4 5_prime_UTR_variant NM_004628.4:c.-44C>A NA XPC ERCC3 2 128051676 G/A 0.04 NM_000122.1 5_prime_UTR_variant NM_000122.1:c.-19C>T NA NM_000122.1 5_prime_UTR_variant NM_000122.1:c.-19C>T NA ERCC3 CDH1 16 68771279 G/A 0 NM_004360.3 5_prime_UTR_variant NM_004360.3:c.-40G>A NA NM_004360.3 5_prime_UTR_variant NM_004360.3:c.-40G>A NA CDH1 EPCAM 2 47596622 CCT/C 0 NM_002354.2 5_prime_UTR_variant NM_002354.2:c.-20_-19delCT NA NM_002354.2 5_prime_UTR_variant NM_002354.2:c.-20_-19delCT NA EPCAM SBDS 7 66460420 A/T 0.02 NM_016038.2 5_prime_UTR_variant NM_016038.2:c.-16T>A NA NM_016038.2 5_prime_UTR_variant NM_016038.2:c.-16T>A NA SBDS XPA 9 100459596 T/C 0 NM_000380.3 5_prime_UTR_variant NM_000380.3:c.-22A>G NA NM_000380.3 5_prime_UTR_variant NM_000380.3:c.-22A>G NA XPA CDKN2A 9 21974859 C/G 0.02 NM_001195132.1 5_prime_UTR_variant NM_001195132.1:c.-33G>C NA NM_058195.3 intron_variant NM_058195.3:c.194-3652G>C NA CDKN2A MEN1 11 64577591 C/T 0 NM_130803.2 5_prime_UTR_variant NM_130803.2:c.-10G>A NA NM_130799.2 5_prime_UTR_variant NM_130799.2:c.-10G>A NA MEN1 TSC1 9 135804303 C/T 0 NM_000368.4 5_prime_UTR_variant NM_000368.4:c.-44G>A NA NM_000368.4 5_prime_UTR_variant NM_000368.4:c.-44G>A NA TSC1 PMS2 7 6048683 G/A 0.02 NM_000535.5 5_prime_UTR_variant NM_000535.5:c.-33C>T NA NM_000535.5 5_prime_UTR_variant NM_000535.5:c.-33C>T NA PMS2 CDC73 1 193091321 G/C 0.1 NM_024529.4 5_prime_UTR_variant NM_024529.4:c.-10G>C NA NM_024529.4 5_prime_UTR_variant NM_024529.4:c.-10G>C NA CDC73 CDC73 1 193091319 A/AG 0.08 NM_024529.4 5_prime_UTR_variant NM_024529.4:c.-4dupG NA NM_024529.4 5_prime_UTR_variant NM_024529.4:c.-4dupG NA CDC73 RET 10 43572694 G/A 0 NM_020975.4 5_prime_UTR_variant NM_020975.4:c.-13G>A NA NM_020975.4 5_prime_UTR_variant NM_020975.4:c.-13G>A NA RET DDB2 11 47236657 G/C 0.02 NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-31G>C NA NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-31G>C NA DDB2 FANCL 2 58468474 A/T 0 NM_001114636.1 5_prime_UTR_variant NM_001114636.1:c.-26T>A NA NM_018062.3 5_prime_UTR_variant NM_018062.3:c.-26T>A NA FANCL DDB2 11 47236637 C/T 0 NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-51C>T NA NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-51C>T NA DDB2 VHL 3 10183496 C/G 0 NM_000551.3 5_prime_UTR_variant NM_000551.3:c.-36C>G NA NM_000551.3 5_prime_UTR_variant NM_000551.3:c.-36C>G NA VHL GATA2 3 128205910 G/A 0 NM_032638.4 5_prime_UTR_variant NM_032638.4:c.-36C>T NA NM_032638.4 5_prime_UTR_variant NM_032638.4:c.-36C>T NA GATA2 FANCL 2 58468487 T/C 0.64 NM_001114636.1 5_prime_UTR_variant NM_001114636.1:c.-39A>G NA NM_018062.3 5_prime_UTR_variant NM_018062.3:c.-39A>G NA FANCL KIT 4 55524161 G/T 0.16 NM_000222.2 5_prime_UTR_variant NM_000222.2:c.-21G>T NA NM_000222.2 5_prime_UTR_variant NM_000222.2:c.-21G>T NA KIT DDB2 11 47236678 G/A 0 NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-10G>A NA NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-10G>A NA DDB2 ERCC3 2 128051708 C/T 0.14 NM_000122.1 5_prime_UTR_variant NM_000122.1:c.-51G>A NA NM_000122.1 5_prime_UTR_variant NM_000122.1:c.-51G>A NA ERCC3 FANCC 9 98011602 T/G 1.7 NM_000136.2 5_prime_UTR_variant NM_000136.2:c.-29A>C NA NM_000136.2 5_prime_UTR_variant NM_000136.2:c.-29A>C NA FANCC EPCAM 2 47596602 T/C 0 NM_002354.2 5_prime_UTR_variant NM_002354.2:c.-43T>C NA NM_002354.2 5_prime_UTR_variant NM_002354.2:c.-43T>C NA EPCAM MSH6 2 48010365 C/T 0.02 NM_000179.2 5_prime_UTR_variant NM_000179.2:c.-8C>T NA NM_000179.2 5_prime_UTR_variant NM_000179.2:c.-8C>T NA MSH6 SDHB 1 17380531 A/C 0 NM_003000.2 5_prime_UTR_variant NM_003000.2:c.-17T>G NA NM_003000.2 5_prime_UTR_variant NM_003000.2:c.-17T>G NA SDHB DDB2 11 47236686 C/A 0 NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-2C>A NA NM_000107.2 5_prime_UTR_variant NM_000107.2:c.-2C>A NA DDB2 FANCB X 14883671 A/G 0 NM_152633.2 5_prime_UTR_variant NM_152633.2:c.-39T>C NA NM_152633.2 5_prime_UTR_variant NM_152633.2:c.-39T>C NA FANCB XPA 9 100437871 T/C 0 NM_002486.4 downstream_gene_variant NA NA NM_000380.3 splice_acceptor_variant NM_000380.3:c.674-2A>G NA XPA CDKN2A 9 21970916 C/T 0.7 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 3_prime_UTR_variant NM_058195.3:c.*86G>A NA CDKN2A XPC 3 14187710 T/C 24.72 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 intron_variant NM_004628.4:c.2605-51A>G NA XPC CDK4 12 58144665 C/T 33.67 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.522+41G>A NA CDK4 ERCC2 19 45855524 G/A 18.23 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.2133C>T NP_000391.1:p.Asp711%3D ERCC2 ERCC2 19 45854919 T/G 23.66 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.2251A>C NP_000391.1:p.Lys751Gln ERCC2 RECQL4 8 145737286 G/A 40.06 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.3394+8C>T NA RECQL4 CDK4 12 58145156 C/T 24.8 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.219-31G>A NA CDK4 RECQL4 8 145737040 C/T 39.32 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3503+24G>A NA RECQL4 RECQL4 8 145737816 C/T 38.44 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.3015G>A NP_004251.3:p.Ala1005%3D RECQL4 RECQL4 8 145741130 C/T 40.1 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1258+18G>A NA RECQL4 RECQL4 8 145739924 G/A 39.46 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1621-15C>T NA RECQL4 RECQL4 8 145737514 G/A 43.33 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3237+13C>T NA RECQL4 XPC 3 14188762 G/C 32.79 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 intron_variant NM_004628.4:c.2604+28C>G NA XPC XPC 3 14187449 G/T 31.53 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 missense_variant NM_004628.4:c.2815C>A NP_004619.3:p.Gln939Lys XPC ERCC2 19 45856468 C/C 36.56 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1758+32C>G NA ERCC2 XPC 3 14187699 T/C 30.57 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 intron_variant NM_004628.4:c.2605-40A>G NA XPC FANCL 2 58388696 G/G 29.35 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 synonymous_variant NM_018062.3:c.981T>C NP_060532.2:p.Ser327%3D FANCL CDKN2A 9 21968199 C/G 9.78 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 3_prime_UTR_variant NM_058195.3:c.*144G>C NA CDKN2A MUTYH 1 45796269 C/C 6.47 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-40C>G NA MUTYH MUTYH 1 45798555 C/C 6.29 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.423+35A>G NA MUTYH RECQL4 8 145737636 G/G 5.39 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3128T>C NP_004251.3:p.Leu1043Pro RECQL4 RECQL4 8 145738767 C/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 frameshift_variant NM_004260.3:c.2297delC NP_004251.3:p.Pro766ArgfsTer444 RECQL4 ERCC2 19 45856479 A/C 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1758+21T>G NA ERCC2 XPC 3 14187710 C/C 24.72 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 intron_variant NM_004628.4:c.2605-51A>G NA XPC MUTYH 1 45797505 C/G 31.35 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.933G>C NP_001041637.1:p.Gln311His MUTYH CDK4 12 58144665 T/T 33.67 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.522+41G>A NA CDK4 XPC 3 14188762 C/C 32.79 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 intron_variant NM_004628.4:c.2604+28C>G NA XPC XPC 3 14187449 T/T 31.53 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 missense_variant NM_004628.4:c.2815C>A NP_004619.3:p.Gln939Lys XPC XPC 3 14187699 C/C 30.57 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 intron_variant NM_004628.4:c.2605-40A>G NA XPC FANCL 2 58388696 A/G 29.35 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 synonymous_variant NM_018062.3:c.981T>C NP_060532.2:p.Ser327%3D FANCL CDKN2A 9 21968199 G/G 9.78 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 3_prime_UTR_variant NM_058195.3:c.*144G>C NA CDKN2A SDHD 11 111957665 G/A 0.5 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 missense_variant NM_003002.3:c.34G>A NP_002993.1:p.Gly12Ser SDHD SDHD 11 111959562 A/G 11.36 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 intron_variant NM_003002.3:c.170-29A>G NA SDHD SDHD 11 111959625 C/T 11.34 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 synonymous_variant NM_003002.3:c.204C>T NP_002993.1:p.Ser68%3D SDHD FANCA 16 89809319 T/C 15.75 NM_001113525.1 downstream_gene_variant NA NA NM_000135.2 synonymous_variant NM_000135.2:c.3654A>G NP_000126.2:p.Pro1218%3D FANCA RECQL4 8 145737286 A/A 40.06 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.3394+8C>T NA RECQL4 CDK4 12 58145156 T/T 24.8 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.219-31G>A NA CDK4 RECQL4 8 145737040 T/T 39.32 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3503+24G>A NA RECQL4 RECQL4 8 145741130 T/T 40.1 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1258+18G>A NA RECQL4 RECQL4 8 145739924 A/A 39.46 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1621-15C>T NA RECQL4 RECQL4 8 145737514 A/A 43.33 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3237+13C>T NA RECQL4 ERCC2 19 45856468 G/C 36.56 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1758+32C>G NA ERCC2 RECQL4 8 145737285 T/C 0.68 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3394+9A>G NA RECQL4 RHBDF2 17 74469779 T/C 1.64 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1684A>G NP_001005498.2:p.Met562Val RHBDF2 RECQL4 8 145740297 T/C 0.04 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1620+23A>G NA RECQL4 RHBDF2 17 74470203 T/C 0.02 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1486A>G NP_001005498.2:p.Lys496Glu RHBDF2 RECQL4 8 145741142 T/A 1.54 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.1258+6A>T NA RECQL4 FANCL 2 58390679 T/G 10.98 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.692-27A>C NA FANCL MUTYH 1 45796269 G/C 6.47 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-40C>G NA MUTYH MUTYH 1 45798555 T/C 6.29 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.423+35A>G NA MUTYH FANCL 2 58390538 T/C 4.75 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.775+31A>G NA FANCL FANCL 2 58390547 G/A 12.04 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.775+22C>T NA FANCL RECQL4 8 145737816 T/T 38.44 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.3015G>A NP_004251.3:p.Ala1005%3D RECQL4 RECQL4 8 145740860 G/A 0.04 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1259-19C>T NA RECQL4 FANCL 2 58389969 G/C 0.26 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.903+32C>G NA FANCL RHBDF2 17 74469449 G/A 1.26 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1734-40C>T NA RHBDF2 ERCC2 19 45854919 G/G 23.66 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.2251A>C NP_000391.1:p.Lys751Gln ERCC2 RECQL4 8 145736832 G/A 0.08 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3610C>T NP_004251.3:p.Pro1204Ser RECQL4 BAP1 3 52437349 G/A 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 intron_variant NM_004656.3:c.1730-35C>T NA BAP1 BAP1 3 52438494 C/T 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 missense_variant NM_004656.3:c.1225G>A NP_004647.1:p.Val409Met BAP1 RECQL4 8 145739917 T/C 0.08 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.1621-8A>G NA RECQL4 ERCC2 19 45855524 A/A 18.23 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.2133C>T NP_000391.1:p.Asp711%3D ERCC2 FANCL 2 58389997 T/C 0 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 splice_region_variant&intron_variant NM_018062.3:c.903+4A>G NA FANCL RECQL4 8 145739112 T/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2059-16A>G NA RECQL4 RECQL4 8 145736791 C/T 0.04 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 3_prime_UTR_variant NM_004260.3:c.*23G>A NA RECQL4 MUTYH 1 45795084 G/A 0.46 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.1463C>T NP_001041637.1:p.Ser488Phe MUTYH MUTYH 1 45797505 G/G 31.35 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.933G>C NP_001041637.1:p.Gln311His MUTYH RECQL4 8 145737326 C/T 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3362G>A NP_004251.3:p.Gly1121Glu RECQL4 MUTYH 1 45797228 C/T 0.24 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant&splice_region_variant NM_001048172.1:c.1106G>A NP_001041637.1:p.Gly369Asp MUTYH RHBDF2 17 74467664 C/G 7.33 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 3_prime_UTR_variant NM_001005498.3:c.*51G>C NA RHBDF2 ERCC2 19 45855740 A/G 0.1 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2046+24T>C NA ERCC2 FANCL 2 58390679 G/G 10.98 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.692-27A>C NA FANCL MUTYH 1 45798458 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.472C>T NP_001041637.1:p.Arg158Trp MUTYH MUTYH 1 45797255 G/A 0.18 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1106-27C>T NA MUTYH RECQL4 8 145738566 C/T 0.94 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2464+35G>A NA RECQL4 CDK4 12 58143104 T/A 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 splice_region_variant&intron_variant NM_000075.3:c.684-4A>T NA CDK4 FANCL 2 58387258 A/G 0.84 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 synonymous_variant NM_018062.3:c.1077T>C NP_060532.2:p.Cys359%3D FANCL RECQL4 8 145738349 G/T 0.54 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2637C>A NP_004251.3:p.Pro879%3D RECQL4 MUTYH 1 45797707 C/T 0.06 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.904G>A NP_001041637.1:p.Val302Met MUTYH RECQL4 8 145741142 A/A 1.54 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.1258+6A>T NA RECQL4 CDK4 12 58145248 T/A 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.218+35A>T NA CDK4 RHBDF2 17 74469185 C/T 0.1 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 splice_region_variant&synonymous_variant NM_001005498.3:c.1812G>A NP_001005498.2:p.Val604%3D RHBDF2 FANCA 16 89809171 C/T 7.19 NM_001113525.1 downstream_gene_variant NA NA NM_000135.2 intron_variant NM_000135.2:c.3765+37G>A NA FANCA CDKN2A 9 21970916 T/T 0.7 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 3_prime_UTR_variant NM_058195.3:c.*86G>A NA CDKN2A BAP1 3 52436259 G/C 3.01 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 3_prime_UTR_variant NM_004656.3:c.*45C>G NA BAP1 BAP1 3 52436459 T/G 0.42 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 intron_variant NM_004656.3:c.2057-22A>C NA BAP1 ERCC2 19 45855625 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2047-15C>T NA ERCC2 ERCC2 19 45855967 A/C 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1902+37T>G NA ERCC2 RECQL4 8 145739339 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2031C>T NP_004251.3:p.Ser677%3D RECQL4 RHBDF2 17 74469757 C/T 0.02 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1706G>A NP_001005498.2:p.Arg569His RHBDF2 ERCC2 19 45855650 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2047-40C>T NA ERCC2 RECQL4 8 145738644 C/T 0.02 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2421G>A NP_004251.3:p.Ala807%3D RECQL4 RECQL4 8 145737701 C/T 0.12 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.3063G>A NP_004251.3:p.Ala1021%3D RECQL4 ERCC2 19 45855794 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.2016G>A NP_000391.1:p.Thr672%3D ERCC2 BAP1 3 52439268 G/A 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 missense_variant NM_004656.3:c.974C>T NP_004647.1:p.Ser325Phe BAP1 BIVM-ERCC5,ERCC5 13 103498672 C/T 0 NM_017693.3 downstream_gene_variant NA NA NM_000123.3 missense_variant NM_000123.3:c.56C>T NP_000114.2:p.Pro19Leu ERCC5 SDHD 11 111958677 A/G 0.66 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 missense_variant NM_003002.3:c.149A>G NP_002993.1:p.His50Arg SDHD CDKN2A 9 21971188 G/T 0 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 synonymous_variant NM_058195.3:c.213C>A NP_478102.2:p.Arg71%3D CDKN2A CDKN2A 9 21970993 C/G 0 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 3_prime_UTR_variant NM_058195.3:c.*9G>C NA CDKN2A FANCL 2 58390638 T/C 0 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 missense_variant NM_018062.3:c.706A>G NP_060532.2:p.Ile236Val FANCL RECQL4 8 145737652 A/G 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3112T>C NP_004251.3:p.Ser1038Pro RECQL4 RECQL4 8 145738570 CA/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2464+30delT NA RECQL4 RECQL4 8 145736954 G/GAC 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3504-18_3504-17dupGT NA RECQL4 BAP1 3 52436441 C/A 0.28 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 splice_region_variant&intron_variant NM_004656.3:c.2057-4G>T NA BAP1 RHBDF2 17 74470194 C/A 0.14 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1495G>T NP_001005498.2:p.Asp499Tyr RHBDF2 RECQL4 8 145740707 C/T 0.12 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.1390+3G>A NA RECQL4 RECQL4 8 145737068 GC/G 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 frameshift_variant NM_004260.3:c.3498delG NP_004251.3:p.His1167IlefsTer? RECQL4 FANCL 2 58390538 C/C 4.75 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.775+31A>G NA FANCL FANCL 2 58390547 A/A 12.04 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.775+22C>T NA FANCL RECQL4 8 145738590 G/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2464+11C>G NA RECQL4 ERCC2 19 45855468 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant&splice_region_variant NM_000400.3:c.2189G>A NP_000391.1:p.Arg730Gln ERCC2 RECQL4 8 145738410 T/TGGTGCA 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 inframe_insertion NM_004260.3:c.2570_2575dupTGCACC NP_004251.3:p.Leu857_His858dup RECQL4 RECQL4 8 145738827 C/T 1.04 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2238G>A NP_004251.3:p.Ala746%3D RECQL4 RECQL4 8 145739115 CGTGGGCA/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2059-26_2059-20delTGCCCAC NA RECQL4 RECQL4 8 145739817 G/A 0.26 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1704+9C>T NA RECQL4 RECQL4 8 145737022 C/T 0.26 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3503+42G>A NA RECQL4 RECQL4 8 145737373 C/T 0.36 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.3315G>A NP_004251.3:p.Arg1105%3D RECQL4 ERCC2 19 45855645 C/T 0.04 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2047-35G>A NA ERCC2 RECQL4 8 145736819 G/A 0.06 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3623C>T NP_004251.3:p.Pro1208Leu RECQL4 RECQL4 8 145738638 C/T 0.02 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2427G>A NP_004251.3:p.Arg809%3D RECQL4 RECQL4 8 145740275 C/G 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1620+45G>C NA RECQL4 ERCC2 19 45856100 G/A 2.69 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1832-26C>T NA ERCC2 RECQL4 8 145738676 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2389G>A NP_004251.3:p.Glu797Lys RECQL4 SDHD 11 111959786 A/T 0 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 intron_variant NM_003002.3:c.314+51A>T NA SDHD MUTYH 1 45796899 C/G 1.04 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 synonymous_variant NM_001048172.1:c.1350G>C NP_001041637.1:p.Thr450%3D MUTYH RHBDF2 17 74469779 C/C 1.64 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1684A>G NP_001005498.2:p.Met562Val RHBDF2 RECQL4 8 145739430 C/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1940G>T NP_004251.3:p.Arg647Leu RECQL4 RECQL4 8 145738604 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2461C>T NP_004251.3:p.Pro821Ser RECQL4 RECQL4 8 145737211 G/A 0.1 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3395-39C>T NA RECQL4 RECQL4 8 145740622 C/T 0.16 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1395G>A NP_004251.3:p.Thr465%3D RECQL4 RECQL4 8 145737484 C/T 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3238-34G>A NA RECQL4 RECQL4 8 145738017 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.2886+8C>T NA RECQL4 RECQL4 8 145736803 A/G 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 3_prime_UTR_variant NM_004260.3:c.*11T>C NA RECQL4 RECQL4 8 145739142 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2059-46G>A NA RECQL4 FANCL 2 58390096 G/GA 0 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.822-15dupT NA FANCL RECQL4 8 145738093 C/T 0.1 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2818G>A NP_004251.3:p.Asp940Asn RECQL4 RECQL4 8 145740510 C/G 3.49 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1483+24G>C NA RECQL4 CDKN2A 9 21971184 T/G 0.3 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 missense_variant NM_058195.3:c.217A>C NP_478102.2:p.Ser73Arg CDKN2A RHBDF2 17 74469835 G/A 0.24 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1639-11C>T NA RHBDF2 ERCC2 19 45855014 T/G 0.3 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2191-35A>C NA ERCC2 BAP1 3 52437258 T/C 2.69 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 missense_variant NM_004656.3:c.1786A>G NP_004647.1:p.Ser596Gly BAP1 SDHD 11 111959562 G/G 11.36 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 intron_variant NM_003002.3:c.170-29A>G NA SDHD SDHD 11 111959625 T/T 11.34 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 synonymous_variant NM_003002.3:c.204C>T NP_002993.1:p.Ser68%3D SDHD RECQL4 8 145739485 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1885C>T NP_004251.3:p.Arg629Trp RECQL4 ERCC2 19 45856623 G/C 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1666-31C>G NA ERCC2 MUTYH 1 45798269 T/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.586A>G NP_001041637.1:p.Ile196Val MUTYH RECQL4 8 145737864 A/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2967T>G NP_004251.3:p.His989Gln RECQL4 XPC 3 14188838 G/A 0 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 synonymous_variant NM_004628.4:c.2556C>T NP_004619.3:p.Ala852%3D XPC RHBDF2 17 74470505 C/T 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1414G>A NP_001005498.2:p.Val472Ile RHBDF2 BAP1 3 52437424 A/G 0.3 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 splice_region_variant&intron_variant NM_004656.3:c.1729+8T>C NA BAP1 BAP1 3 52438427 C/T 0.08 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 intron_variant NM_004656.3:c.1250+42G>A NA BAP1 MUTYH 1 45797157 G/T 0.02 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.1177C>A NP_001041637.1:p.Leu393Met MUTYH MUTYH 1 45796890 TTCC/T 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 inframe_deletion NM_001048172.1:c.1356_1358delGGA NP_001041637.1:p.Glu453del MUTYH RHBDF2 17 74470000 A/T 0.16 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1575-16T>A NA RHBDF2 RECQL4 8 145737768 G/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.3056+7C>G NA RECQL4 FANCA 16 89809313 G/A 0 NM_001113525.1 downstream_gene_variant NA NA NM_000135.2 synonymous_variant NM_000135.2:c.3660C>T NP_000126.2:p.Pro1220%3D FANCA XPC 3 14190049 GC/G 0 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 intron_variant NM_004628.4:c.2420+12delG NA XPC MUTYH 1 45798263 A/G 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.592T>C NP_001041637.1:p.Ser198Pro MUTYH RHBDF2 17 74470524 C/A 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1395G>T NP_001005498.2:p.Glu465Asp RHBDF2 BAP1 3 52436917 C/G 0.84 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 intron_variant NM_004656.3:c.1891-30G>C NA BAP1 BAP1 3 52439240 T/C 0.84 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 synonymous_variant NM_004656.3:c.1002A>G NP_004647.1:p.Leu334%3D BAP1 RECQL4 8 145738669 C/T 0.58 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2396G>A NP_004251.3:p.Arg799His RECQL4 RECQL4 8 145740753 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1347C>T NP_004251.3:p.Thr449%3D RECQL4 FANCA 16 89811492 C/T 0.06 NM_001113525.1 downstream_gene_variant NA NA NM_000135.2 intron_variant NM_000135.2:c.3514-13G>A NA FANCA RECQL4 8 145737560 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.3204C>T NP_004251.3:p.Gly1068%3D RECQL4 RECQL4 8 145739905 G/A 0.28 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1625C>T NP_004251.3:p.Ser542Phe RECQL4 ERCC2 19 45855450 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2190+17C>T NA ERCC2 MUTYH 1 45798558 TCCTATTTCCCCTA/T 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.423+19_423+31delTAGGGGAAATAGG NA MUTYH ERCC2 19 45857957 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1665+31C>T NA ERCC2 RECQL4 8 145738697 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2368G>A NP_004251.3:p.Gly790Arg RECQL4 RECQL4 8 145738238 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2748C>T NP_004251.3:p.Ala916%3D RECQL4 RECQL4 8 145737877 C/T 0.02 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2954G>A NP_004251.3:p.Arg985His RECQL4 RECQL4 8 145739135 G/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2059-39C>A NA RECQL4 RECQL4 8 145738257 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2729G>A NP_004251.3:p.Arg910His RECQL4 RECQL4 8 145741168 G/C 0.06 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1238C>G NP_004251.3:p.Ala413Gly RECQL4 RECQL4 8 145741169 C/T 0.06 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1237G>A NP_004251.3:p.Ala413Thr RECQL4 MUTYH 1 45798484 C/T 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.446G>A NP_001041637.1:p.Gly149Asp MUTYH ERCC2 19 45856315 G/A 0.02 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1831+26C>T NA ERCC2 MUTYH 1 45797548 C/T 0.08 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.917-27G>A NA MUTYH RECQL4 8 145740613 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1404G>A NP_004251.3:p.Glu468%3D RECQL4 ERCC2 19 45855752 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2046+12G>A NA ERCC2 RECQL4 8 145740465 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1484-9C>T NA RECQL4 RHBDF2 17 74469688 G/T 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1733+42C>A NA RHBDF2 RECQL4 8 145739505 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1879-14C>T NA RECQL4 XPC 3 14190078 C/T 0.16 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 missense_variant NM_004628.4:c.2404G>A NP_004619.3:p.Gly802Ser XPC FANCA 16 89811442 C/G 0.02 NM_001113525.1 downstream_gene_variant NA NA NM_000135.2 missense_variant NM_000135.2:c.3551G>C NP_000126.2:p.Arg1184Pro FANCA ERCC2 19 45855593 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.2064C>T NP_000391.1:p.Asp688%3D ERCC2 MUTYH 1 45798225 G/T 0.34 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.609+21C>A NA MUTYH CDK4 12 58142924 GTC/G 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.819+39_819+40delGA NA CDK4 CDK4 12 58144921 C/G 1.48 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.355-48G>C NA CDK4 RECQL4 8 145738639 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2426G>A NP_004251.3:p.Arg809Gln RECQL4 RECQL4 8 145741418 T/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1085A>G NP_004251.3:p.His362Arg RECQL4 MUTYH 1 45797476 GGC/G 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 frameshift_variant NM_001048172.1:c.960_961delGC NP_001041637.1:p.Glu320AspfsTer184 MUTYH MUTYH 1 45798117 C/T 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.653G>A NP_001041637.1:p.Arg218His MUTYH RECQL4 8 145738398 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2588G>A NP_004251.3:p.Gly863Glu RECQL4 RECQL4 8 145739267 TCAG/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2058+42_2058+44delCTG NA RECQL4 CDK4 12 58144942 A/G 0.26 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.354+48T>C NA CDK4 RECQL4 8 145736958 C/T 0.62 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3504-20G>A NA RECQL4 RECQL4 8 145741413 C/T 0.54 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1090G>A NP_004251.3:p.Val364Met RECQL4 RECQL4 8 145738594 T/G 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.2464+7A>C NA RECQL4 CDK4 12 58145284 G/C 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 missense_variant&splice_region_variant NM_000075.3:c.217C>G NP_000066.1:p.Arg73Gly CDK4 ERCC2 19 45855492 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.2165G>A NP_000391.1:p.Arg722Gln ERCC2 RECQL4 8 145739416 C/T 0.04 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1954G>A NP_004251.3:p.Val652Met RECQL4 RECQL4 8 145738349 T/T 0.54 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2637C>A NP_004251.3:p.Pro879%3D RECQL4 SMARCB1 22 24129326 C/T 0.46 NM_005940.3 downstream_gene_variant NA NA NM_003073.3 5_prime_UTR_variant NM_003073.3:c.-31C>T NA SMARCB1 CDKN2A 9 21971160 G/A 0 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 missense_variant NM_058195.3:c.241C>T NP_478102.2:p.Arg81Trp CDKN2A ERCC2 19 45858069 G/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.1584C>A NP_000391.1:p.Ser528%3D ERCC2 SDHD 11 111958677 G/G 0.66 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 missense_variant NM_003002.3:c.149A>G NP_002993.1:p.His50Arg SDHD ERCC2 19 45855445 G/A 0.06 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2190+22C>T NA ERCC2 ERCC2 19 45856521 G/A 0.24 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.1737C>T NP_000391.1:p.Val579%3D ERCC2 RECQL4 8 145740392 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1548G>A NP_004251.3:p.Ala516%3D RECQL4 RHBDF2 17 74469685 C/CG 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1733+44dupC NA RHBDF2 RECQL4 8 145737690 CT/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 frameshift_variant NM_004260.3:c.3073delA NP_004251.3:p.Arg1025GlyfsTer? RECQL4 RHBDF2 17 74469448 C/T 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1734-39G>A NA RHBDF2 RECQL4 8 145737126 A/G 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.3441T>C NP_004251.3:p.Pro1147%3D RECQL4 RHBDF2 17 74470523 G/A 0.14 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1396C>T NP_001005498.2:p.Arg466Trp RHBDF2 RECQL4 8 145738482 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2504G>A NP_004251.3:p.Arg835Gln RECQL4 CDK4 12 58143031 G/T 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 synonymous_variant NM_000075.3:c.753C>A NP_000066.1:p.Pro251%3D CDK4 RHBDF2 17 74469914 C/T 0.24 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 splice_region_variant&intron_variant NM_001005498.3:c.1638+7G>A NA RHBDF2 RECQL4 8 145738585 G/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2464+16C>A NA RECQL4 RECQL4 8 145740667 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1391-41G>A NA RECQL4 ERCC2 19 45854940 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.2230C>T NP_000391.1:p.Leu744%3D ERCC2 RECQL4 8 145737142 C/G 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3425G>C NP_004251.3:p.Arg1142Pro RECQL4 XPC 3 14189426 A/G 0.02 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 synonymous_variant NM_004628.4:c.2496T>C NP_004619.3:p.Ile832%3D XPC RHBDF2 17 74468870 G/A 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 synonymous_variant NM_001005498.3:c.1962C>T NP_001005498.2:p.Asp654%3D RHBDF2 BAP1 3 52439216 G/A 0.16 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 synonymous_variant NM_004656.3:c.1026C>T NP_004647.1:p.Ser342%3D BAP1 RECQL4 8 145737631 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3133C>T NP_004251.3:p.Arg1045Cys RECQL4 BAP1 3 52438502 T/G 0.02 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 missense_variant NM_004656.3:c.1217A>C NP_004647.1:p.Glu406Ala BAP1 RECQL4 8 145738293 T/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2693A>G NP_004251.3:p.His898Arg RECQL4 RECQL4 8 145739599 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1852C>T NP_004251.3:p.Arg618Trp RECQL4 ERCC2 19 45855906 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant&splice_region_variant NM_000400.3:c.1904C>T NP_000391.1:p.Ala635Val ERCC2 ERCC2 19 45855494 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.2163G>A NP_000391.1:p.Leu721%3D ERCC2 RECQL4 8 145739127 G/A 0.2 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2059-31C>T NA RECQL4 XPC 3 14188806 C/T 0 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 missense_variant NM_004628.4:c.2588G>A NP_004619.3:p.Arg863His XPC RECQL4 8 145741327 AG/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1131+44delC NA RECQL4 RECQL4 8 145738886 G/A 0.04 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2201-22C>T NA RECQL4 RECQL4 8 145737131 C/G 0.12 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3436G>C NP_004251.3:p.Val1146Leu RECQL4 BAP1 3 52437356 A/C 0.06 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 intron_variant NM_004656.3:c.1730-42T>G NA BAP1 MUTYH 1 45797776 G/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.853-18C>G NA MUTYH ERCC2 19 45855649 C/T 0.04 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.2047-39G>A NA ERCC2 RECQL4 8 145739930 G/A 0.02 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.1621-21C>T NA RECQL4 CDK4 12 58144578 C/T 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.523-30G>A NA CDK4 RHBDF2 17 74470257 C/T 0.3 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1465-33G>A NA RHBDF2 BAP1 3 52436831 G/A 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 synonymous_variant NM_004656.3:c.1947C>T NP_004647.1:p.Cys649%3D BAP1 RHBDF2 17 74469959 C/T 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1600G>A NP_001005498.2:p.Gly534Ser RHBDF2 MUTYH 1 45795006 GC/G 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 frameshift_variant NM_001048172.1:c.1540delG NP_001041637.1:p.Ala514HisfsTer30 MUTYH MUTYH 1 45797952 G/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 synonymous_variant NM_001048172.1:c.738C>G NP_001041637.1:p.Ala246%3D MUTYH MUTYH 1 45797974 G/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.716C>G NP_001041637.1:p.Ala239Gly MUTYH RECQL4 8 145740330 A/G 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1610T>C NP_004251.3:p.Met537Thr RECQL4 FANCA 16 89809369 A/C 0 NM_001113525.1 downstream_gene_variant NA NA NM_000135.2 intron_variant NM_000135.2:c.3627-23T>G NA FANCA BAP1 3 52437206 G/A 0.42 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 missense_variant NM_004656.3:c.1838C>T NP_004647.1:p.Thr613Met BAP1 RECQL4 8 145740360 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1580C>T NP_004251.3:p.Thr527Met RECQL4 MUTYH 1 45796945 C/G 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.1304G>C NP_001041637.1:p.Gly435Ala MUTYH BAP1 3 52439090 C/T 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 intron_variant NM_004656.3:c.1116+36G>A NA BAP1 RECQL4 8 145740545 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1472G>A NP_004251.3:p.Arg491Gln RECQL4 CDK4 12 58145156 C/G 24.8 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.219-31G>C NA CDK4 MUTYH 1 45797499 G/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.939C>G NP_001041637.1:p.His313Gln MUTYH MUTYH 1 45797846 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.844C>T NP_001041637.1:p.Arg282Cys MUTYH ERCC2 19 45855529 C/T 0.02 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.2128G>A NP_000391.1:p.Val710Met ERCC2 XPC 3 14187482 T/G 0.28 NM_024334.2 downstream_gene_variant NA NA NM_004628.4 missense_variant NM_004628.4:c.2782A>C NP_004619.3:p.Lys928Gln XPC BAP1 3 52436757 G/A 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 intron_variant NM_004656.3:c.1983+38C>T NA BAP1 ERCC2 19 45856631 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1666-39G>A NA ERCC2 MUTYH 1 45797506 T/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.932A>G NP_001041637.1:p.Gln311Arg MUTYH MUTYH 1 45798054 A/G 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.707+9T>C NA MUTYH MUTYH 1 45798781 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 synonymous_variant NM_001048172.1:c.369C>T NP_001041637.1:p.Thr123%3D MUTYH MUTYH 1 45798440 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.490C>T NP_001041637.1:p.Arg164Trp MUTYH RECQL4 8 145736909 C/T 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3533G>A NP_004251.3:p.Arg1178Gln RECQL4 RECQL4 8 145738999 A/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2156T>A NP_004251.3:p.Leu719His RECQL4 ERCC2 19 45855800 GC/G 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 frameshift_variant NM_000400.3:c.2009delG NP_000391.1:p.Gly670AlafsTer39 ERCC2 MUTYH 1 45798949 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 splice_region_variant&intron_variant NM_001048172.1:c.307+8C>T NA MUTYH BAP1 3 52439298 T/G 0.02 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 missense_variant NM_004656.3:c.944A>C NP_004647.1:p.Glu315Ala BAP1 MUTYH 1 45797139 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.1195C>T NP_001041637.1:p.Arg399Cys MUTYH MUTYH 1 45798855 G/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.308-13C>G NA MUTYH BAP1 3 52439211 T/C 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 missense_variant NM_004656.3:c.1031A>G NP_004647.1:p.Asn344Ser BAP1 ERCC2 19 45856486 C/G 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1758+14G>C NA ERCC2 ERCC2 19 45856348 G/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.1824C>A NP_000391.1:p.Ile608%3D ERCC2 RHBDF2 17 74470556 C/T 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1363G>A NP_001005498.2:p.Glu455Lys RHBDF2 RECQL4 8 145739747 C/G 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 splice_acceptor_variant NM_004260.3:c.1705-1G>C NA RECQL4 ERCC2 19 45857950 G/C 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1665+38C>G NA ERCC2 RECQL4 8 145739583 C/T 0.04 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1868G>A NP_004251.3:p.Arg623His RECQL4 RECQL4 8 145740607 G/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1410C>G NP_004251.3:p.Phe470Leu RECQL4 BAP1 3 52436816 T/G 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 synonymous_variant NM_004656.3:c.1962A>C NP_004647.1:p.Val654%3D BAP1 FANCL 2 58388764 T/C 0.08 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 missense_variant NM_018062.3:c.913A>G NP_060532.2:p.Met305Val FANCL ERCC2 19 45858077 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.1576G>A NP_000391.1:p.Glu526Lys ERCC2 RECQL4 8 145741236 A/G 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1170T>C NP_004251.3:p.Phe390%3D RECQL4 RECQL4 8 145738804 C/T 0.02 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2261G>A NP_004251.3:p.Arg754Gln RECQL4 MUTYH 1 45796881 G/A 0.4 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 synonymous_variant NM_001048172.1:c.1368C>T NP_001041637.1:p.Thr456%3D MUTYH RECQL4 8 145737781 TG/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 frameshift_variant NM_004260.3:c.3049delC NP_004251.3:p.Gln1017ArgfsTer? RECQL4 RHBDF2 17 74468855 G/A 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 synonymous_variant NM_001005498.3:c.1977C>T NP_001005498.2:p.Ala659%3D RHBDF2 RECQL4 8 145737039 G/C 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3503+25C>G NA RECQL4 ERCC2 19 45855833 G/A 0.02 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 synonymous_variant NM_000400.3:c.1977C>T NP_000391.1:p.His659%3D ERCC2 MUTYH 1 45796272 A/C 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-43T>G NA MUTYH CDK4 12 58145149 T/TTCAA 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 intron_variant NM_000075.3:c.219-28_219-25dupTTGA NA CDK4 FANCL 2 58388611 T/C 0.02 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.1020+46A>G NA FANCL RECQL4 8 145739143 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2059-47C>T NA RECQL4 RECQL4 8 145737636 A/G 5.39 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.3128T>C NP_004251.3:p.Leu1043Pro RECQL4 RECQL4 8 145739417 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1953C>T NP_004251.3:p.Asp651%3D RECQL4 RHBDF2 17 74471086 C/G 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1227+26G>C NA RHBDF2 ERCC2 19 45856397 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.1775G>A NP_000391.1:p.Arg592His ERCC2 ERCC2 19 45859008 G/A 0.02 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1480-22C>T NA ERCC2 RECQL4 8 145739833 A/G 0.04 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.1697T>C NP_004251.3:p.Leu566Pro RECQL4 ERCC2 19 45854910 C/G 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.2260G>C NP_000391.1:p.Glu754Gln ERCC2 SDHD 11 111959733 C/T 0.7 NM_018195.3 downstream_gene_variant NA NA NM_003002.3 splice_region_variant&synonymous_variant NM_003002.3:c.312C>T NP_002993.1:p.His104%3D SDHD MUTYH 1 45796245 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-16C>T NA MUTYH MUTYH 1 45796247 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-18C>T NA MUTYH MUTYH 1 45796249 G/GACAAA 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-21_1396-20insTTTGT NA MUTYH MUTYH 1 45796250 G/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-21C>T NA MUTYH MUTYH 1 45796251 T/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1396-22A>T NA MUTYH FANCL 2 58388802 G/A 0 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.904-29C>T NA FANCL MUTYH 1 45797324 T/A 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.1105+9A>T NA MUTYH RECQL4 8 145740619 C/T 0.08 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1398G>A NP_004251.3:p.Pro466%3D RECQL4 RECQL4 8 145737285 C/C 0.68 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3394+9A>G NA RECQL4 MUTYH 1 45798215 C/T 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 intron_variant NM_001048172.1:c.609+31G>A NA MUTYH FANCA 16 89809319 C/C 15.75 NM_001113525.1 downstream_gene_variant NA NA NM_000135.2 synonymous_variant NM_000135.2:c.3654A>G NP_000126.2:p.Pro1218%3D FANCA MUTYH 1 45798475 T/C 0.02 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 missense_variant NM_001048172.1:c.455A>G NP_001041637.1:p.Tyr152Cys MUTYH RHBDF2 17 74469160 G/A 1.42 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 synonymous_variant NM_001005498.3:c.1837C>T NP_001005498.2:p.Leu613%3D RHBDF2 RHBDF2 17 74469909 A/G 1.4 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1638+12T>C NA RHBDF2 RHBDF2 17 74470256 T/C 1.4 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1465-32A>G NA RHBDF2 RHBDF2 17 74470539 G/T 1.4 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 synonymous_variant NM_001005498.3:c.1380C>A NP_001005498.2:p.Arg460%3D RHBDF2 MUTYH 1 45798849 G/T 0 NM_032756.2 downstream_gene_variant NA NA NM_001048172.1 splice_region_variant&intron_variant NM_001048172.1:c.308-7C>A NA MUTYH RECQL4 8 145738344 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 missense_variant NM_004260.3:c.2642G>A NP_004251.3:p.Arg881Lys RECQL4 FANCL 2 58387213 T/TTTATGAGATG 0 NM_006296.6 downstream_gene_variant NA NA NM_018062.3 intron_variant NM_018062.3:c.1092+20_1092+29dupCATCTCATAA NA FANCL CDKN2A 9 21971124 G/A 0 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 missense_variant NM_058195.3:c.277C>T NP_478102.2:p.His93Tyr CDKN2A ERCC2 19 45856429 C/G 0.04 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1759-16G>C NA ERCC2 RECQL4 8 145737041 G/A 0 NM_005309.2 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.3503+23C>T NA RECQL4 RHBDF2 17 74470487 C/T 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 missense_variant NM_001005498.3:c.1432G>A NP_001005498.2:p.Gly478Arg RHBDF2 CDK4 12 58142357 C/T 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 missense_variant NM_000075.3:c.863G>A NP_000066.1:p.Arg288Gln CDK4 ERCC2 19 45858934 C/T 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 missense_variant NM_000400.3:c.1532G>A NP_000391.1:p.Arg511Gln ERCC2 BAP1 3 52438585 C/T 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 synonymous_variant NM_004656.3:c.1134G>A NP_004647.1:p.Ala378%3D BAP1 RHBDF2 17 74470624 A/G 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 splice_region_variant&intron_variant NM_001005498.3:c.1303-8T>C NA RHBDF2 BAP1 3 52437664 G/A 0 NM_015512.4 downstream_gene_variant NA NA NM_004656.3 synonymous_variant NM_004656.3:c.1497C>T NP_004647.1:p.Ile499%3D BAP1 XPA 9 100437757 AGTACAAGTCTTACG/A 0 NM_002486.4 downstream_gene_variant NA NA NM_000380.3 frameshift_variant NM_000380.3:c.772_785delCGTAAGACTTGTAC NP_000371.1:p.Arg258TyrfsTer5 XPA RECQL4 8 145738653 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.2412G>A NP_004251.3:p.Pro804%3D RECQL4 CDKN2A 9 21970901 C/G 0 NR_024274.1 downstream_gene_variant NA NA NM_058195.3 splice_region_variant&3_prime_UTR_variant NM_058195.3:c.*101G>C NA CDKN2A RECQL4 8 145738184 G/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 intron_variant NM_004260.3:c.2757-30C>T NA RECQL4 ERCC2 19 45858119 G/A 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 intron_variant NM_000400.3:c.1544-10C>T NA ERCC2 RECQL4 8 145738764 A/A 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 frameshift_variant NM_004260.3:c.2300delG NP_004251.3:p.Gly767ValfsTer443 RECQL4 CDK4 12 58145441 C/T 0 NM_005981.3 downstream_gene_variant NA NA NM_000075.3 synonymous_variant NM_000075.3:c.60G>A NP_000066.1:p.Val20%3D CDK4 RHBDF2 17 74469055 G/A 0 NM_001166579.1 downstream_gene_variant NA NA NM_001005498.3 intron_variant NM_001005498.3:c.1910+32C>T NA RHBDF2 ERCC2 19 45854880 G/A 0.04 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 3_prime_UTR_variant NM_000400.3:c.*7C>T NA ERCC2 RECQL4 8 145737620 T/C 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.3144A>G NP_004251.3:p.Glu1048%3D RECQL4 RECQL4 8 145739690 C/T 0 NM_138431.1 downstream_gene_variant NA NA NM_004260.3 synonymous_variant NM_004260.3:c.1761G>A NP_004251.3:p.Ala587%3D RECQL4 ERCC2 19 45856550 CA/C 0 NM_177417.2 downstream_gene_variant NA NA NM_000400.3 frameshift_variant NM_000400.3:c.1707delT NP_000391.1:p.Ile569MetfsTer140 ERCC2 BRCA1 17 41243843 GTTTAC/G 0 NM_007300.3 frameshift_variant NM_007300.3:c.3700_3704delGTAAA NP_009231.2:p.Val1234GlnfsTer8 NM_007294.3 frameshift_variant NM_007294.3:c.3700_3704delGTAAA NP_009225.1:p.Val1234GlnfsTer8 BRCA1 CHEK2 22 29121049 CA/C 0 NM_001005735.1 frameshift_variant NM_001005735.1:c.636delT NP_001005735.1:p.Phe212LeufsTer2 NM_007194.3 frameshift_variant NM_007194.3:c.507delT NP_009125.1:p.Phe169LeufsTer2 CHEK2 BRCA2 13 32913019 AC/A 0 NM_000059.3 frameshift_variant NM_000059.3:c.4530delC NP_000050.2:p.Glu1511AsnfsTer32 NM_000059.3 frameshift_variant NM_000059.3:c.4530delC NP_000050.2:p.Glu1511AsnfsTer32 BRCA2 BRCA1 17 41222948 TTCTTCTGGGGTCAGGCCAG/T 0 NM_007300.3 frameshift_variant NM_007300.3:c.5027_5045delCTGGCCTGACCCCAGAAGA NP_009231.2:p.Ser1676TyrfsTer16 NM_007294.3 frameshift_variant NM_007294.3:c.4964_4982delCTGGCCTGACCCCAGAAGA NP_009225.1:p.Ser1655TyrfsTer16 BRCA1 TSC2 16 2108784 CGT/C 0 NM_000548.3 frameshift_variant NM_000548.3:c.888_889delGT NP_000539.2:p.Phe298CysfsTer39 NM_000548.3 frameshift_variant NM_000548.3:c.888_889delGT NP_000539.2:p.Phe298CysfsTer39 TSC2 BRCA1 17 41243635 CT/C 0 NM_007300.3 frameshift_variant NM_007300.3:c.3912delA NP_009231.2:p.Asp1305ThrfsTer2 NM_007294.3 frameshift_variant NM_007294.3:c.3912delA NP_009225.1:p.Asp1305ThrfsTer2 BRCA1 SDHB 1 17349106 A/AG 0 NM_003000.2 frameshift_variant NM_003000.2:c.761dupC NP_002991.2:p.Lys255Ter NM_003000.2 frameshift_variant NM_003000.2:c.761dupC NP_002991.2:p.Lys255Ter SDHB BRCA2 13 32954272 G/GA 0 NM_000059.3 frameshift_variant NM_000059.3:c.9253dupA NP_000050.2:p.Thr3085AsnfsTer26 NM_000059.3 frameshift_variant NM_000059.3:c.9253dupA NP_000050.2:p.Thr3085AsnfsTer26 BRCA2 BRCA2 13 32907502 T/TA 0 NM_000059.3 frameshift_variant NM_000059.3:c.1888dupA NP_000050.2:p.Thr630AsnfsTer6 NM_000059.3 frameshift_variant NM_000059.3:c.1888dupA NP_000050.2:p.Thr630AsnfsTer6 BRCA2 TSC1 9 135786476 C/CCA 0 NM_000368.4 frameshift_variant NM_000368.4:c.1052_1053dupTG NP_000359.1:p.Val352TrpfsTer5 NM_000368.4 frameshift_variant NM_000368.4:c.1052_1053dupTG NP_000359.1:p.Val352TrpfsTer5 TSC1 MSH6 2 48025896 TG/T 0 NM_000179.2 frameshift_variant NM_000179.2:c.776delG NP_000170.1:p.Gly259ValfsTer20 NM_000179.2 frameshift_variant NM_000179.2:c.776delG NP_000170.1:p.Gly259ValfsTer20 MSH6 BRCA2 13 32912770 A/AT 0 NM_000059.3 frameshift_variant NM_000059.3:c.4284dupT NP_000050.2:p.Gln1429SerfsTer9 NM_000059.3 frameshift_variant NM_000059.3:c.4284dupT NP_000050.2:p.Gln1429SerfsTer9 BRCA2 PMS2 7 6035203 ACTGT/A 0 NM_000535.5 frameshift_variant NM_000535.5:c.861_864delACAG NP_000526.1:p.Arg287SerfsTer19 NM_000535.5 frameshift_variant NM_000535.5:c.861_864delACAG NP_000526.1:p.Arg287SerfsTer19 PMS2 NF1 17 29588762 TA/T 0 NM_001042492.2 frameshift_variant NM_001042492.2:c.4613delA NP_001035957.1:p.Lys1538ArgfsTer36 NM_000267.3 frameshift_variant NM_000267.3:c.4550delA NP_000258.1:p.Lys1517ArgfsTer36 NF1 WRN 8 30938705 GA/G 0 NM_000553.4 frameshift_variant NM_000553.4:c.1165delA NP_000544.2:p.Arg389GlufsTer4 NM_000553.4 frameshift_variant NM_000553.4:c.1165delA NP_000544.2:p.Arg389GlufsTer4 WRN BRCA2 13 32907420 G/GA 0 NM_000059.3 frameshift_variant NM_000059.3:c.1813dupA NP_000050.2:p.Ile605AsnfsTer11 NM_000059.3 frameshift_variant NM_000059.3:c.1813dupA NP_000050.2:p.Ile605AsnfsTer11 BRCA2 ATM,C11ORF65 11 108183193 AAAAGT/A 0.02 NM_000051.3 frameshift_variant NM_000051.3:c.5979_5983delTAAAG NP_000042.3:p.Ser1993ArgfsTer23 NM_000051.3 frameshift_variant NM_000051.3:c.5979_5983delTAAAG NP_000042.3:p.Ser1993ArgfsTer23 ATM BRCA2 13 32900655 A/AT 0 NM_000059.3 frameshift_variant NM_000059.3:c.537dupT NP_000050.2:p.Ile180TyrfsTer3 NM_000059.3 frameshift_variant NM_000059.3:c.537dupT NP_000050.2:p.Ile180TyrfsTer3 BRCA2 BRCA1 17 41209079 T/TG 0 NM_007300.3 frameshift_variant NM_007300.3:c.5329dupC NP_009231.2:p.Gln1777ProfsTer74 NM_007294.3 frameshift_variant NM_007294.3:c.5266dupC NP_009225.1:p.Gln1756ProfsTer74 BRCA1 ERCC3 2 128030505 T/TC 0 NM_000122.1 frameshift_variant NM_000122.1:c.1762dupG NP_000113.1:p.Glu588GlyfsTer16 NM_000122.1 frameshift_variant NM_000122.1:c.1762dupG NP_000113.1:p.Glu588GlyfsTer16 ERCC3 BRCA2 13 32911135 AC/A 0 NM_000059.3 frameshift_variant NM_000059.3:c.2644delC NP_000050.2:p.Leu882PhefsTer13 NM_000059.3 frameshift_variant NM_000059.3:c.2644delC NP_000050.2:p.Leu882PhefsTer13 BRCA2 ATM 11 108106537 GA/G 0 NM_000051.3 frameshift_variant NM_000051.3:c.475delA NP_000042.3:p.Ile159TyrfsTer7 NM_000051.3 frameshift_variant NM_000051.3:c.475delA NP_000042.3:p.Ile159TyrfsTer7 ATM ATM,C11ORF65 11 108214064 ATTTCAGTGCC/A 0 NM_000051.3 frameshift_variant NM_000051.3:c.8395_8404delTTTCAGTGCC NP_000042.3:p.Phe2799LysfsTer4 NM_000051.3 frameshift_variant NM_000051.3:c.8395_8404delTTTCAGTGCC NP_000042.3:p.Phe2799LysfsTer4 ATM FANCD2 3 10119817 ATC/A 0 NM_033084.3 frameshift_variant NM_033084.3:c.2917_2918delTC NP_149075.2:p.Ser973ProfsTer52 NM_033084.3 frameshift_variant NM_033084.3:c.2917_2918delTC NP_149075.2:p.Ser973ProfsTer52 FANCD2 BRCA1 17 41276044 ACT/A 0 NM_007300.3 frameshift_variant NM_007300.3:c.68_69delAG NP_009231.2:p.Glu23ValfsTer17 NM_007294.3 frameshift_variant NM_007294.3:c.68_69delAG NP_009225.1:p.Glu23ValfsTer17 BRCA1 BRCA1 17 41197717 TGGGGTATCAGGTA/T 0 NM_007300.3 frameshift_variant NM_007300.3:c.5620_5632delTACCTGATACCCC NP_009231.2:p.Tyr1874ArgfsTer65 NM_007294.3 frameshift_variant NM_007294.3:c.5557_5569delTACCTGATACCCC NP_009225.1:p.Tyr1853ArgfsTer65 BRCA1 ATM,C11ORF65 11 108224586 G/GT 0 NM_000051.3 frameshift_variant NM_000051.3:c.8766dupT NP_000042.3:p.Val2923CysfsTer2 NM_000051.3 frameshift_variant NM_000051.3:c.8766dupT NP_000042.3:p.Val2923CysfsTer2 ATM ATM 11 108122609 TC/T 0 NM_000051.3 frameshift_variant NM_000051.3:c.1655delC NP_000042.3:p.Pro552GlnfsTer4 NM_000051.3 frameshift_variant NM_000051.3:c.1655delC NP_000042.3:p.Pro552GlnfsTer4 ATM BRCA1 17 41197794 AG/A 0 NM_007300.3 frameshift_variant NM_007300.3:c.5555delC NP_009231.2:p.Pro1852LeufsTer3 NM_007294.3 frameshift_variant NM_007294.3:c.5492delC NP_009225.1:p.Pro1831LeufsTer3 BRCA1 BRCA2 13 32972744 T/TGAATTATATC 0 NM_000059.3 frameshift_variant NM_000059.3:c.10094_10095insGAATTATATC NP_000050.2:p.Ser3366AsnfsTer5 NM_000059.3 frameshift_variant NM_000059.3:c.10094_10095insGAATTATATC NP_000050.2:p.Ser3366AsnfsTer5 BRCA2 TSC1 9 135779144 TG/T 0 NM_000368.4 frameshift_variant NM_000368.4:c.2101delC NP_000359.1:p.Gln701SerfsTer23 NM_000368.4 frameshift_variant NM_000368.4:c.2101delC NP_000359.1:p.Gln701SerfsTer23 TSC1 TSC2 16 2122304 AG/A 0 NM_000548.3 frameshift_variant NM_000548.3:c.2161delG NP_000539.2:p.Val721CysfsTer50 NM_000548.3 frameshift_variant NM_000548.3:c.2161delG NP_000539.2:p.Val721CysfsTer50 TSC2 TSC2 16 2122355 C/CT 0 NM_000548.3 frameshift_variant NM_000548.3:c.2212dupT NP_000539.2:p.Cys738LeufsTer24 NM_000548.3 frameshift_variant NM_000548.3:c.2212dupT NP_000539.2:p.Cys738LeufsTer24 TSC2 APC 5 112173816 ATAGT/A 0 NM_000038.5 frameshift_variant NM_000038.5:c.2527_2530delAGTT NP_000029.2:p.Ser843LeufsTer17 NM_000038.5 frameshift_variant NM_000038.5:c.2527_2530delAGTT NP_000029.2:p.Ser843LeufsTer17 APC BRCA1 17 41246039 CTTTAA/C 0 NM_007300.3 frameshift_variant NM_007300.3:c.1504_1508delTTAAA NP_009231.2:p.Leu502AlafsTer2 NM_007294.3 frameshift_variant NM_007294.3:c.1504_1508delTTAAA NP_009225.1:p.Leu502AlafsTer2 BRCA1 BRCA2 13 32915260 TC/T 0 NM_000059.3 frameshift_variant NM_000059.3:c.6771delC NP_000050.2:p.Glu2258LysfsTer22 NM_000059.3 frameshift_variant NM_000059.3:c.6771delC NP_000050.2:p.Glu2258LysfsTer22 BRCA2 CHEK2 22 29091768 CA/C 0 NM_001005735.1 frameshift_variant NM_001005735.1:c.1317delT NP_001005735.1:p.Val440PhefsTer17 NM_007194.3 frameshift_variant NM_007194.3:c.1188delT NP_009125.1:p.Val397PhefsTer17 CHEK2 ATM 11 108119808 AT/A 0 NM_000051.3 frameshift_variant NM_000051.3:c.1215delT NP_000042.3:p.Asn405LysfsTer15 NM_000051.3 frameshift_variant NM_000051.3:c.1215delT NP_000042.3:p.Asn405LysfsTer15 ATM BRCA2 13 32907014 AAG/A 0 NM_000059.3 frameshift_variant NM_000059.3:c.1405_1406delGA NP_000050.2:p.Asp469Ter NM_000059.3 frameshift_variant NM_000059.3:c.1405_1406delGA NP_000050.2:p.Asp469Ter BRCA2 BRCA2 13 32911297 TAAAC/T 0 NM_000059.3 frameshift_variant NM_000059.3:c.2808_2811delACAA NP_000050.2:p.Ala938ProfsTer21 NM_000059.3 frameshift_variant NM_000059.3:c.2808_2811delACAA NP_000050.2:p.Ala938ProfsTer21 BRCA2 BRCA1 17 41219665 ATTAG/A 0 NM_007300.3 frameshift_variant NM_007300.3:c.5093_5096delCTAA NP_009231.2:p.Thr1698IlefsTer2 NM_007294.3 frameshift_variant NM_007294.3:c.5030_5033delCTAA NP_009225.1:p.Thr1677IlefsTer2 BRCA1 TSC2 16 2129639 TGG/T 0 NM_000548.3 frameshift_variant NM_000548.3:c.3369_3370delGG NP_000539.2:p.Ala1124ProfsTer43 NM_000548.3 frameshift_variant NM_000548.3:c.3369_3370delGG NP_000539.2:p.Ala1124ProfsTer43 TSC2 NBN 8 90983441 ATTTGT/A 0 NM_002485.4 frameshift_variant NM_002485.4:c.657_661delACAAA NP_002476.2:p.Lys219AsnfsTer16 NM_002485.4 frameshift_variant NM_002485.4:c.657_661delACAAA NP_002476.2:p.Lys219AsnfsTer16 NBN MSH2 2 47702224 GC/G 0 NM_000251.2 frameshift_variant NM_000251.2:c.1821delC NP_000242.1:p.Phe608LeufsTer27 NM_000251.2 frameshift_variant NM_000251.2:c.1821delC NP_000242.1:p.Phe608LeufsTer27 MSH2 ERCC2 19 45868386 CG/C 0 NM_000400.3 frameshift_variant NM_000400.3:c.390delC NP_000391.1:p.Asp131MetfsTer50 NM_000400.3 frameshift_variant NM_000400.3:c.390delC NP_000391.1:p.Asp131MetfsTer50 ERCC2 BRCA2 13 32972329 CA/C 0 NM_000059.3 frameshift_variant NM_000059.3:c.9682delA NP_000050.2:p.Ser3228ValfsTer21 NM_000059.3 frameshift_variant NM_000059.3:c.9682delA NP_000050.2:p.Ser3228ValfsTer21 BRCA2 BRCA2 13 32913558 C/CA 0 NM_000059.3 frameshift_variant NM_000059.3:c.5073dupA NP_000050.2:p.Trp1692MetfsTer3 NM_000059.3 frameshift_variant NM_000059.3:c.5073dupA NP_000050.2:p.Trp1692MetfsTer3 BRCA2 BRCA1 17 41245528 GT/G 0 NM_007300.3 frameshift_variant NM_007300.3:c.2019delA NP_009231.2:p.Glu673AspfsTer28 NM_007294.3 frameshift_variant NM_007294.3:c.2019delA NP_009225.1:p.Glu673AspfsTer28 BRCA1 FLCN 17 17127433 TG/T 0 NM_144997.5 frameshift_variant NM_144997.5:c.420delC NP_659434.2:p.Ile141SerfsTer36 NM_144997.5 frameshift_variant NM_144997.5:c.420delC NP_659434.2:p.Ile141SerfsTer36 FLCN TSC2 16 2138055 A/AG 0 NM_000548.3 frameshift_variant NM_000548.3:c.5078dupG NP_000539.2:p.Leu1694ProfsTer12 NM_000548.3 frameshift_variant NM_000548.3:c.5078dupG NP_000539.2:p.Leu1694ProfsTer12 TSC2 BLM 15 91310151 A/AT 0 NM_000057.2 frameshift_variant NM_000057.2:c.2206dupT NP_000048.1:p.Tyr736LeufsTer5 NM_000057.2 frameshift_variant NM_000057.2:c.2206dupT NP_000048.1:p.Tyr736LeufsTer5 BLM BRCA2 13 32914700 GA/G 0 NM_000059.3 frameshift_variant NM_000059.3:c.6211delA NP_000050.2:p.Ser2071ValfsTer10 NM_000059.3 frameshift_variant NM_000059.3:c.6211delA NP_000050.2:p.Ser2071ValfsTer10 BRCA2 FANCA 16 89882973 G/GC 0 NM_000135.2 frameshift_variant NM_000135.2:c.50dupG NP_000126.2:p.Arg18ProfsTer19 NM_000135.2 frameshift_variant NM_000135.2:c.50dupG NP_000126.2:p.Arg18ProfsTer19 FANCA BRIP1 17 59878763 TCCCTTGG/T 0 NM_032043.2 frameshift_variant NM_032043.2:c.984_990delCCAAGGG NP_114432.2:p.Phe328LeufsTer8 NM_032043.2 frameshift_variant NM_032043.2:c.984_990delCCAAGGG NP_114432.2:p.Phe328LeufsTer8 BRIP1 APC 5 112175657 A/AAAGC 0 NM_000038.5 frameshift_variant NM_000038.5:c.4368_4371dupAGCA NP_000029.2:p.Pro1458SerfsTer5 NM_000038.5 frameshift_variant NM_000038.5:c.4368_4371dupAGCA NP_000029.2:p.Pro1458SerfsTer5 APC BRCA2 13 32912045 ACAGTTGAAAT/A 0 NM_000059.3 frameshift_variant NM_000059.3:c.3554_3563delCAGTTGAAAT NP_000050.2:p.Thr1185IlefsTer9 NM_000059.3 frameshift_variant NM_000059.3:c.3554_3563delCAGTTGAAAT NP_000050.2:p.Thr1185IlefsTer9 BRCA2 BRCA2 13 32972900 ATATC/A 0 NM_000059.3 frameshift_variant NM_000059.3:c.10253_10256delTCTA NP_000050.2:p.Ile3418Lys NM_000059.3 frameshift_variant NM_000059.3:c.10253_10256delTCTA NP_000050.2:p.Ile3418LysfsTer8 BRCA2 ERCC4 16 14029436 AC/A 0 NM_005236.2 frameshift_variant NM_005236.2:c.1651delC NP_005227.1:p.Leu551SerfsTer16 NM_005236.2 frameshift_variant NM_005236.2:c.1651delC NP_005227.1:p.Leu551SerfsTer16 ERCC4 FANCE 6 35425714 G/GC 0 NM_021922.2 frameshift_variant NM_021922.2:c.929dupC NP_068741.1:p.Val311SerfsTer2 NM_021922.2 frameshift_variant NM_021922.2:c.929dupC NP_068741.1:p.Val311SerfsTer2 FANCE CDKN1C 11 2906196 ACCGCGACCGGAG/A 0 NM_000076.2 inframe_deletion NM_000076.2:c.512_523delCTCCGGTCGCGG NP_000067.1:p.Ala171_Ala174del NM_000076.2 inframe_deletion NM_000076.2:c.512_523delCTCCGGTCGCGG NP_000067.1:p.Ala171_Ala174del CDKN1C CDKN1C 11 2906220 GCCGCGA/G 0 NM_000076.2 inframe_deletion NM_000076.2:c.494_499delTCGCGG NP_000067.1:p.Val165_Ala166del NM_000076.2 inframe_deletion NM_000076.2:c.494_499delTCGCGG NP_000067.1:p.Val165_Ala166del CDKN1C DICER1 14 95562994 ATCC/A 0 NM_177438.2 inframe_deletion NM_177438.2:c.4260_4262delGGA NP_803187.1:p.Glu1420del NM_177438.2 inframe_deletion NM_177438.2:c.4260_4262delGGA NP_803187.1:p.Glu1420del DICER1 PHOX2B 4 41747992 TGCCGCCGCTGCCGCTGCCGCC/T 0 NM_003924.3 inframe_deletion NM_003924.3:c.756_776delGGCGGCAGCGGCAGCGGCGGC NP_003915.2:p.Ala254_Ala260del NM_003924.3 inframe_deletion NM_003924.3:c.756_776delGGCGGCAGCGGCAGCGGCGGC NP_003915.2:p.Ala254_Ala260del PHOX2B CDKN1C 11 2906196 A/A 0 NM_000076.2 inframe_deletion NM_000076.2:c.512_523delCTCCGGTCGCGG NP_000067.1:p.Ala171_Ala174del NM_000076.2 inframe_deletion NM_000076.2:c.512_523delCTCCGGTCGCGG NP_000067.1:p.Ala171_Ala174del CDKN1C PHOX2B 4 41748007 TGCCGCCGCCGCCGCTGCCGCG/T 0 NM_003924.3 inframe_deletion NM_003924.3:c.741_761delCGCGGCAGCGGCGGCGGCGGC NP_003915.2:p.Ala254_Ala260del NM_003924.3 inframe_deletion NM_003924.3:c.741_761delCGCGGCAGCGGCGGCGGCGGC NP_003915.2:p.Ala254_Ala260del PHOX2B TSC2 16 2134981 CCTT/C 0 NM_000548.3 inframe_deletion NM_000548.3:c.4527_4529delCTT NP_000539.2:p.Phe1510del NM_000548.3 inframe_deletion NM_000548.3:c.4527_4529delCTT NP_000539.2:p.Phe1510del TSC2 MSH2 2 47635600 ATCT/A 0 NM_000251.2 inframe_deletion NM_000251.2:c.279_281delTCT NP_000242.1:p.Leu94del NM_000251.2 inframe_deletion NM_000251.2:c.279_281delTCT NP_000242.1:p.Leu94del MSH2 APC 5 112173707 CATG/C 0 NM_000038.5 inframe_deletion NM_000038.5:c.2422_2424delGAT NP_000029.2:p.Asp808del NM_000038.5 inframe_deletion NM_000038.5:c.2422_2424delGAT NP_000029.2:p.Asp808del APC SLX4 16 3658702 GCTT/G 0 NM_032444.2 inframe_deletion NM_032444.2:c.261_263delAAG NP_115820.2:p.Arg87del NM_032444.2 inframe_deletion NM_032444.2:c.261_263delAAG NP_115820.2:p.Arg87del SLX4 FANCE 6 35424007 TGGA/T 0 NM_021922.2 inframe_deletion NM_021922.2:c.736_738delGGA NP_068741.1:p.Gly246del NM_021922.2 inframe_deletion NM_021922.2:c.736_738delGGA NP_068741.1:p.Gly246del FANCE PRF1 10 72358621 GCTT/G 0 NM_005041.4 inframe_deletion NM_005041.4:c.853_855delAAG NP_005032.2:p.Lys285del NM_005041.4 inframe_deletion NM_005041.4:c.853_855delAAG NP_005032.2:p.Lys285del PRF1 BRCA2 13 32912901 TAAG/T 0 NM_000059.3 inframe_deletion NM_000059.3:c.4412_4414delGAA NP_000050.2:p.Arg1471del NM_000059.3 inframe_deletion NM_000059.3:c.4412_4414delGAA NP_000050.2:p.Arg1471del BRCA2 PHOX2B 4 41748010 CGCCGCCGCCGCTGCCGCG/C 0 NM_003924.3 inframe_deletion NM_003924.3:c.741_758delCGCGGCAGCGGCGGCGGC NP_003915.2:p.Ala255_Ala260del NM_003924.3 inframe_deletion NM_003924.3:c.741_758delCGCGGCAGCGGCGGCGGC NP_003915.2:p.Ala255_Ala260del PHOX2B WRN 8 31030533 GACGATT/G 0 NM_000553.4 inframe_deletion NM_000553.4:c.4217_4222delGATTAC NP_000544.2:p.Arg1406_Leu1407del NM_000553.4 inframe_deletion NM_000553.4:c.4217_4222delGATTAC NP_000544.2:p.Arg1406_Leu1407del WRN SLX4 16 3639717 ACTT/A 0 NM_032444.2 inframe_deletion NM_032444.2:c.3919_3921delAAG NP_115820.2:p.Lys1307del NM_032444.2 inframe_deletion NM_032444.2:c.3919_3921delAAG NP_115820.2:p.Lys1307del SLX4 PHOX2B 4 41748019 CGCTGCCGCGGCCGCCGCCGCT/C 0 NM_003924.3 inframe_deletion NM_003924.3:c.729_749delAGCGGCGGCGGCCGCGGCAGC NP_003915.2:p.Ala254_Ala260del NM_003924.3 inframe_deletion NM_003924.3:c.729_749delAGCGGCGGCGGCCGCGGCAGC NP_003915.2:p.Ala254_Ala260del PHOX2B CDKN1C 11 2906220 G/G 0 NM_000076.2 inframe_deletion NM_000076.2:c.494_499delTCGCGG NP_000067.1:p.Val165_Ala166del NM_000076.2 inframe_deletion NM_000076.2:c.494_499delTCGCGG NP_000067.1:p.Val165_Ala166del CDKN1C TSC2 16 2138293 CCGGCTCCGCCACATCAAG/C 0 NM_000548.3 inframe_deletion NM_000548.3:c.5238_5255delCATCAAGCGGCTCCGCCA NP_000539.2:p.His1746_Arg1751del NM_000548.3 inframe_deletion NM_000548.3:c.5238_5255delCATCAAGCGGCTCCGCCA NP_000539.2:p.His1746_Arg1751del TSC2 SLX4 16 3634850 GTTC/G 0 NM_032444.2 inframe_deletion NM_032444.2:c.4656_4658delGAA NP_115820.2:p.Lys1552del NM_032444.2 inframe_deletion NM_032444.2:c.4656_4658delGAA NP_115820.2:p.Lys1552del SLX4 TSC2 16 2129145 CTGGACATGA/C 0 NM_000548.3 inframe_deletion NM_000548.3:c.3083_3091delACATGATGG NP_000539.2:p.Asp1028_Met1030del NM_000548.3 inframe_deletion NM_000548.3:c.3083_3091delACATGATGG NP_000539.2:p.Asp1028_Met1030del TSC2 CEBPA 19 33793007 TCGCCGC/T 0 NM_004364.3 inframe_deletion NM_004364.3:c.308_313delGCGGCG NP_004355.2:p.Gly103_Gly104del NM_004364.3 inframe_deletion NM_004364.3:c.308_313delGCGGCG NP_004355.2:p.Gly103_Gly104del CEBPA WRN 8 30982041 CCTT/C 0 NM_000553.4 inframe_deletion NM_000553.4:c.2638_2640delCTT NP_000544.2:p.Leu880del NM_000553.4 inframe_deletion NM_000553.4:c.2638_2640delCTT NP_000544.2:p.Leu880del WRN PHOX2B 4 41748013 CGCCGCCGCTGCCGCG/C 0 NM_003924.3 inframe_deletion NM_003924.3:c.741_755delCGCGGCAGCGGCGGC NP_003915.2:p.Ala256_Ala260del NM_003924.3 inframe_deletion NM_003924.3:c.741_755delCGCGGCAGCGGCGGC NP_003915.2:p.Ala256_Ala260del PHOX2B CEBPA 19 33792754 GGGC/G 0 NM_004364.3 inframe_deletion NM_004364.3:c.564_566delGCC NP_004355.2:p.Pro189del NM_004364.3 inframe_deletion NM_004364.3:c.564_566delGCC NP_004355.2:p.Pro189del CEBPA FANCE 6 35420408 TGCTGCAGGC/T 0 NM_021922.2 inframe_deletion NM_021922.2:c.97_105delCTGCAGGCG NP_068741.1:p.Leu33_Ala35del NM_021922.2 inframe_deletion NM_021922.2:c.97_105delCTGCAGGCG NP_068741.1:p.Leu33_Ala35del FANCE CDKN1C 11 2906090 GGGGGCCGGGGCC/G 0 NM_000076.2 inframe_deletion NM_000076.2:c.618_629delGGCCCCGGCCCC NP_000067.1:p.Ala213_Pro216del NM_000076.2 inframe_deletion NM_000076.2:c.618_629delGGCCCCGGCCCC NP_000067.1:p.Ala213_Pro216del CDKN1C APC 5 112174750 TGAA/T 0 NM_000038.5 inframe_deletion NM_000038.5:c.3468_3470delAGA NP_000029.2:p.Glu1157del NM_000038.5 inframe_deletion NM_000038.5:c.3468_3470delAGA NP_000029.2:p.Glu1157del APC FANCI 15 89856136 ATAAGAG/A 0 NM_001113378.1 inframe_deletion,splice_region_variant NM_001113378.1:c.3660_3665delTAAGAG NP_001106849.1:p.Lys1221_Ser1222del NM_001113378.1 inframe_deletion&splice_region_variant NM_001113378.1:c.3660_3665delTAAGAG NP_001106849.1:p.Lys1221_Ser1222del FANCI MSH6 2 48033742 G/GAAAAGCAAGAGAATTTGA 0 NM_000179.2 inframe_insertion NM_000179.2:c.3954_3971dupAAAAGCAAGAGAATTTGA NP_000170.1:p.Ala1320_Lys1325dup NM_000179.2 inframe_insertion NM_000179.2:c.3954_3971dupAAAAGCAAGAGAATTTGA NP_000170.1:p.Ala1320_Lys1325dup MSH6 FH 1 241661227 A/ATTT 0 NM_000143.3 inframe_insertion NM_000143.3:c.1431_1433dupAAA NP_000134.2:p.Lys477dup NM_000143.3 inframe_insertion NM_000143.3:c.1431_1433dupAAA NP_000134.2:p.Lys477dup FH CDKN1C 11 2906188 G/GGACCGC 0 NM_000076.2 inframe_insertion NM_000076.2:c.526_531dupGCGGTC NP_000067.1:p.Ala176_Val177dup NM_000076.2 inframe_insertion NM_000076.2:c.526_531dupGCGGTC NP_000067.1:p.Ala176_Val177dup CDKN1C CEBPA 19 33792731 G/GGCGGGT 0 NM_004364.3 inframe_insertion NM_004364.3:c.584_589dupACCCGC NP_004355.2:p.His195_Pro196dup NM_004364.3 inframe_insertion NM_004364.3:c.584_589dupACCCGC NP_004355.2:p.His195_Pro196dup CEBPA GPC3 X 133119383 C/CCGG 0 NM_001164617.1 inframe_insertion NM_001164617.1:c.91_93dupCCG NP_001158089.1:p.Pro31dup NM_004484.3 inframe_insertion NM_004484.3:c.91_93dupCCG NP_004475.1:p.Pro31dup GPC3 MSH6 2 48032740 ATT/A 0 NM_000179.2 intron_variant NM_000179.2:c.3557-4delT NA NM_000179.2 intron_variant NM_000179.2:c.3557-16dupT NA MSH6 FANCD2 3 10076517 C/T 0 NM_033084.3 intron_variant NM_033084.3:c.377+35C>T NA NM_033084.3 intron_variant NM_033084.3:c.377+35C>T NA FANCD2 FANCD2 3 10088223 T/G 0 NM_033084.3 intron_variant NM_033084.3:c.1135-41T>G NA NM_033084.3 intron_variant NM_033084.3:c.1135-41T>G NA FANCD2 FANCD2 3 10088239 G/A 0 NM_033084.3 intron_variant NM_033084.3:c.1135-25G>A NA NM_033084.3 intron_variant NM_033084.3:c.1135-25G>A NA FANCD2 FANCD2 3 10088242 G/A 0 NM_033084.3 intron_variant NM_033084.3:c.1135-22G>A NA NM_033084.3 intron_variant NM_033084.3:c.1135-22G>A NA FANCD2 FANCD2 3 10088422 C/T 0 NM_033084.3 intron_variant NM_033084.3:c.1278+15C>T NA NM_033084.3 intron_variant NM_033084.3:c.1278+15C>T NA FANCD2 FANCD2 3 10088443 C/A 0 NM_033084.3 intron_variant NM_033084.3:c.1278+36C>A NA NM_033084.3 intron_variant NM_033084.3:c.1278+36C>A NA FANCD2 FANCD2 3 10088444 A/G 0 NM_033084.3 intron_variant NM_033084.3:c.1278+37A>G NA NM_033084.3 intron_variant NM_033084.3:c.1278+37A>G NA FANCD2 FANCD2 3 10089749 T/C 0 NM_033084.3 intron_variant NM_033084.3:c.1413+14T>C NA NM_033084.3 intron_variant NM_033084.3:c.1413+14T>C NA FANCD2 FANCD2 3 10089772 C/G 0 NM_033084.3 intron_variant NM_033084.3:c.1413+37C>G NA NM_033084.3 intron_variant NM_033084.3:c.1413+37C>G NA FANCD2 FANCD2 3 10089773 A/G 17.91 NM_033084.3 intron_variant NM_033084.3:c.1413+38A>G NA NM_033084.3 intron_variant NM_033084.3:c.1413+38A>G NA FANCD2 FANCD2 3 10089775 A/G 0 NM_033084.3 intron_variant NM_033084.3:c.1413+40A>G NA NM_033084.3 intron_variant NM_033084.3:c.1413+40A>G NA FANCD2 FANCD2 3 10106144 C/T 0 NM_033084.3 intron_variant NM_033084.3:c.2021+31C>T NA NM_033084.3 intron_variant NM_033084.3:c.2021+31C>T NA FANCD2 FANCD2 3 10106608 T/C 0 NM_033084.3 intron_variant NM_033084.3:c.2168+49T>C NA NM_033084.3 intron_variant NM_033084.3:c.2168+49T>C NA FANCD2 SLX4 16 3647747 C/T 0 NM_032444.2 intron_variant NM_032444.2:c.1366+51G>A NA NM_032444.2 intron_variant NM_032444.2:c.1366+51G>A NA SLX4 NF1 17 29685474 C/T 0.06 NM_001042492.2 intron_variant NM_001042492.2:c.7971-24C>T NA NM_000267.3 intron_variant NM_000267.3:c.7908-24C>T NA NF1 SDHB 1 17355075 A/T 0.12 NM_003000.2 intron_variant NM_003000.2:c.423+20T>A NA NM_003000.2 intron_variant NM_003000.2:c.423+20T>A NA SDHB EPCAM 2 47600591 T/A 0.5 NM_002354.2 intron_variant NM_002354.2:c.77-11T>A NA NM_002354.2 intron_variant NM_002354.2:c.77-11T>A NA EPCAM ALK 2 29755003 C/T 1.08 NM_004304.4 intron_variant NM_004304.4:c.953-21G>A NA NM_004304.4 intron_variant NM_004304.4:c.953-21G>A NA ALK PMS1 2 190682952 T/TAAAC 0 NM_000534.4 intron_variant NM_000534.4:c.582+49_582+52dupACAA NA NM_000534.4 intron_variant NM_000534.4:c.582+49_582+52dupACAA NA PMS1 NBN 8 90982556 C/T 7.43 NM_002485.4 intron_variant NM_002485.4:c.896+36G>A NA NM_002485.4 intron_variant NM_002485.4:c.896+36G>A NA NBN NBN 8 90982803 C/T 7.43 NM_002485.4 intron_variant NM_002485.4:c.703-18G>A NA NM_002485.4 intron_variant NM_002485.4:c.703-18G>A NA NBN FH 1 241677035 T/A 3.57 NM_000143.3 intron_variant NM_000143.3:c.268-22A>T NA NM_000143.3 intron_variant NM_000143.3:c.268-22A>T NA FH SDHAF2 11 61205343 T/C 1.2 NM_017841.2 intron_variant NM_017841.2:c.260+23T>C NA NM_017841.2 intron_variant NM_017841.2:c.260+23T>C NA SDHAF2 CYLD 16 50813997 G/A 7.89 NM_015247.2 intron_variant NM_015247.2:c.1518+42G>A NA NM_001042412.1 intron_variant NM_001042412.1:c.1509+42G>A NA CYLD CYLD 16 50826462 G/T 13.36 NM_015247.2 intron_variant NM_015247.2:c.2242-46G>T NA NM_001042412.1 intron_variant NM_001042412.1:c.2233-46G>T NA CYLD EZH2 7 148506363 T/G 11.36 NM_004456.4 intron_variant NM_004456.4:c.2110+39A>C NA NM_004456.4 intron_variant NM_004456.4:c.2110+39A>C NA EZH2 TSC2 16 2115506 C/T 3.43 NM_000548.3 intron_variant NM_000548.3:c.1600-14C>T NA NM_000548.3 intron_variant NM_000548.3:c.1600-14C>T NA TSC2 TSC2 16 2125788 C/T 20.55 NM_000548.3 intron_variant NM_000548.3:c.2546-12C>T NA NM_000548.3 intron_variant NM_000548.3:c.2546-12C>T NA TSC2 WT1 11 32414333 G/T 12.24 NM_024426.4 intron_variant NM_024426.4:c.1250-32C>A NA NM_024426.4 intron_variant NM_024426.4:c.1250-32C>A NA WT1 SUFU 10 104359350 T/C 24.8 NM_016169.3 intron_variant NM_016169.3:c.1022+49T>C NA NM_016169.3 intron_variant NM_016169.3:c.1022+49T>C NA SUFU SDHB 1 17371223 C/T 10.62 NM_003000.2 intron_variant NM_003000.2:c.200+33G>A NA NM_003000.2 intron_variant NM_003000.2:c.200+33G>A NA SDHB TSC2 16 2125937 C/G 21.47 NM_000548.3 intron_variant NM_000548.3:c.2639+44C>G NA NM_000548.3 intron_variant NM_000548.3:c.2639+44C>G NA TSC2 DICER1 14 95581961 G/A 2.87 NM_177438.2 intron_variant NM_177438.2:c.1907+43C>T NA NM_177438.2 intron_variant NM_177438.2:c.1907+43C>T NA DICER1 TSC1 9 135781563 G/A 13.88 NM_000368.4 intron_variant NM_000368.4:c.1439-37C>T NA NM_000368.4 intron_variant NM_000368.4:c.1439-37C>T NA TSC1 TSC1 9 135777121 A/G 17.49 NM_000368.4 intron_variant NM_000368.4:c.2392-35T>C NA NM_000368.4 intron_variant NM_000368.4:c.2392-35T>C NA TSC1 NF2 22 30069207 C/T 5.57 NM_000268.3 intron_variant NM_000268.3:c.1123-51C>T NA NM_000268.3 intron_variant NM_000268.3:c.1123-51C>T NA NF2 ATM 11 108150207 CT/C 0 NM_000051.3 intron_variant NM_000051.3:c.3285-9delT NA NM_000051.3 intron_variant NM_000051.3:c.3285-9delT NA ATM RET 10 43615505 G/A 17.31 NM_020975.4 intron_variant NM_020975.4:c.2608-24G>A NA NM_020975.4 intron_variant NM_020975.4:c.2608-24G>A NA RET BRCA1 17 41251931 G/A 9.86 NM_007300.3 intron_variant NM_007300.3:c.442-34C>T NA NM_007294.3 intron_variant NM_007294.3:c.442-34C>T NA BRCA1 TSC2 16 2138218 A/C 25.7 NM_000548.3 intron_variant NM_000548.3:c.5161-10A>C NA NM_000548.3 intron_variant NM_000548.3:c.5161-10A>C NA TSC2 XPC 3 14208625 G/C 35.56 NM_004628.4 intron_variant NM_004628.4:c.621+44C>G NA NM_004628.4 intron_variant NM_004628.4:c.621+44C>G NA XPC PRKAR1A 17 66519857 C/CT 0 NM_212471.2 intron_variant NM_212471.2:c.349-5dupT NA NM_002734.4 intron_variant NM_002734.4:c.349-5dupT NA PRKAR1A RET 10 43596179 G/A 18.55 NM_020975.4 intron_variant NM_020975.4:c.337+9G>A NA NM_020975.4 intron_variant NM_020975.4:c.337+9G>A NA RET WT1 11 32410774 A/G 49.2 NM_024426.4 intron_variant NM_024426.4:c.1433-49T>C NA NM_024426.4 intron_variant NM_024426.4:c.1433-49T>C NA WT1 ERCC4 16 14014240 G/A 22.02 NM_005236.2 intron_variant NM_005236.2:c.207+11G>A NA NM_005236.2 intron_variant NM_005236.2:c.207+11G>A NA ERCC4 ERCC4 16 14038552 G/A 21.21 NM_005236.2 intron_variant NM_005236.2:c.1905-28G>A NA NM_005236.2 intron_variant NM_005236.2:c.1905-28G>A NA ERCC4 CDH1 16 68820946 G/A 25.76 NM_004360.3 intron_variant NM_004360.3:c.164-14627G>A NA NM_004360.3 intron_variant NM_004360.3:c.164-14627G>A NA CDH1 HNF1A 12 121431300 C/T 31.87 NM_000545.5 intron_variant NM_000545.5:c.527-23C>T NA NM_000545.5 intron_variant NM_000545.5:c.527-23C>T NA HNF1A CDKN1C 11 2905204 G/GC 0 NM_000076.2 intron_variant NM_000076.2:c.*5+24dupG NA NM_000076.2 intron_variant NM_000076.2:c.*5+24dupG NA CDKN1C HNF1A 12 121426594 G/A 31.53 NM_000545.5 intron_variant NM_000545.5:c.327-42G>A NA NM_000545.5 intron_variant NM_000545.5:c.327-42G>A NA HNF1A PTCH1 9 98221861 C/C 39.26 NM_000264.3 intron_variant NM_000264.3:c.2887+21A>G NA NM_000264.3 intron_variant NM_000264.3:c.2887+21A>G NA PTCH1 PTCH1 9 98229389 G/G 39.06 NM_000264.3 intron_variant NM_000264.3:c.2560+9G>C NA NM_000264.3 intron_variant NM_000264.3:c.2560+9G>C NA PTCH1 ERCC4 16 14038545 T/C 33.81 NM_005236.2 intron_variant NM_005236.2:c.1905-35T>C NA NM_005236.2 intron_variant NM_005236.2:c.1905-35T>C NA ERCC4 MSH6 2 48030838 T/T 40.1 NM_000179.2 intron_variant NM_000179.2:c.3438+14A>T NA NM_000179.2 intron_variant NM_000179.2:c.3438+14A>T NA MSH6 MAX 14 65568215 A/A 48.78 NM_002382.4 intron_variant NM_002382.4:c.63+49C>T NA NM_002382.4 intron_variant NM_002382.4:c.63+49C>T NA MAX PTEN 10 89720907 T/G 43.25 NM_000314.4 intron_variant NM_000314.4:c.1026+32T>G NA NM_000314.4 intron_variant NM_000314.4:c.1026+32T>G NA PTEN CEP57 11 95562327 G/A 20.49 NM_014679.4 intron_variant NM_014679.4:c.1128-24G>A NA NM_014679.4 intron_variant NM_014679.4:c.1128-24G>A NA CEP57 HNF1A 12 121438844 T/C 36.02 NM_000545.5 intron_variant NM_000545.5:c.1769-24T>C NA NM_000545.5 intron_variant NM_000545.5:c.1769-24T>C NA HNF1A RET 10 43600689 A/G 39.1 NM_020975.4 intron_variant NM_020975.4:c.867+48A>G NA NM_020975.4 intron_variant NM_020975.4:c.867+48A>G NA RET MSH2 2 47630550 C/G 37.16 NM_000251.2 intron_variant NM_000251.2:c.211+9C>G NA NM_000251.2 intron_variant NM_000251.2:c.211+9C>G NA MSH2 PMS2 7 6038722 T/C 32.57 NM_000535.5 intron_variant NM_000535.5:c.705+17A>G NA NM_000535.5 intron_variant NM_000535.5:c.705+17A>G NA PMS2 FANCC 9 97873957 G/G 45.87 NM_000136.2 intron_variant NM_000136.2:c.1155-38T>C NA NM_000136.2 intron_variant NM_000136.2:c.1155-38T>C NA FANCC ATM 11 108098459 TAA/T 0 NM_000051.3 intron_variant NM_000051.3:c.72+37_72+38delAA NA NM_000051.3 intron_variant NM_000051.3:c.72+37_72+38delAA NA ATM NF1 17 29663624 T/A 31.51 NM_001042492.2 intron_variant NM_001042492.2:c.6148-29T>A NA NM_000267.3 intron_variant NM_000267.3:c.6085-29T>A NA NF1 XPC 3 14190268 G/C 32.79 NM_004628.4 intron_variant NM_004628.4:c.2251-37C>G NA NM_004628.4 intron_variant NM_004628.4:c.2251-37C>G NA XPC BUB1B 15 40453497 A/A 34.96 NM_001211.5 intron_variant NM_001211.5:c.35+41G>A NA NM_001211.5 intron_variant NM_001211.5:c.35+41G>A NA BUB1B BRCA2 13 32936646 T/C 46.85 NM_000059.3 intron_variant NM_000059.3:c.7806-14T>C NA NM_000059.3 intron_variant NM_000059.3:c.7806-14T>C NA BRCA2 BIVM-ERCC5,ERCC5 13 103524762 C/T 31.71 NM_001204425.1 intron_variant NM_001204425.1:c.4241+14C>T NA NM_000123.3 intron_variant NM_000123.3:c.2879+14C>T NA ERCC5 ERCC2 19 45872036 C/T 36.38 NM_000400.3 intron_variant NM_000400.3:c.247-35G>A NA NM_000400.3 intron_variant NM_000400.3:c.247-35G>A NA ERCC2 BUB1B 15 40491952 G/G 35 NM_001211.5 intron_variant NM_001211.5:c.1401+24A>G NA NM_001211.5 intron_variant NM_001211.5:c.1401+24A>G NA BUB1B BUB1B 15 40500986 T/T 39.7 NM_001211.5 intron_variant NM_001211.5:c.2143+15C>T NA NM_001211.5 intron_variant NM_001211.5:c.2143+15C>T NA BUB1B EXT1 8 118830820 C/C 40.02 NM_000127.2 intron_variant NM_000127.2:c.1537-51A>G NA NM_000127.2 intron_variant NM_000127.2:c.1537-51A>G NA EXT1 ALK 2 29419591 G/T 42.07 NM_004304.4 intron_variant NM_004304.4:c.4164+45C>A NA NM_004304.4 intron_variant NM_004304.4:c.4164+45C>A NA ALK NF1 17 29654876 A/A 43.19 NM_001042492.2 intron_variant NM_001042492.2:c.5609+19T>A NA NM_000267.3 intron_variant NM_000267.3:c.5546+19T>A NA NF1 NF1 17 29679246 A/A 43.09 NM_001042492.2 intron_variant NM_001042492.2:c.7458-29G>A NA NM_000267.3 intron_variant NM_000267.3:c.7395-29G>A NA NF1 FANCB X 14868806 G/G 43.36 NM_152633.2 intron_variant NM_152633.2:c.1327-10T>C NA NM_152633.2 intron_variant NM_152633.2:c.1327-10T>C NA FANCB ATM 11 108151707 TA/TA 0 NM_000051.3 intron_variant NM_000051.3:c.3403-13dupA NA NM_000051.3 intron_variant NM_000051.3:c.3403-13dupA NA ATM NF1 17 29663625 A/A 18.17 NM_001042492.2 intron_variant NM_001042492.2:c.6148-28T>A NA NM_000267.3 intron_variant NM_000267.3:c.6085-28T>A NA NF1 CDC73 1 193094375 T/C 40.97 NM_024529.4 intron_variant NM_024529.4:c.237+28T>C NA NM_024529.4 intron_variant NM_024529.4:c.237+28T>C NA CDC73 NF1 17 29653293 C/C 39.42 NM_001042492.2 intron_variant NM_001042492.2:c.5268+23T>C NA NM_000267.3 intron_variant NM_000267.3:c.5205+23T>C NA NF1 MSH6 2 48032874 A/A 0 NM_000179.2 intron_variant NM_000179.2:c.3646+35_3646+38delATCT NA NM_000179.2 intron_variant NM_000179.2:c.3646+35_3646+38delATCT NA MSH6 EZH2 7 148543525 A/G 22.96 NM_004456.4 intron_variant NM_004456.4:c.246+37T>C NA NM_004456.4 intron_variant NM_004456.4:c.246+37T>C NA EZH2 PRKAR1A 17 66526027 T/T 21.94 NM_212471.2 intron_variant NM_212471.2:c.892-34G>T NA NM_002734.4 intron_variant NM_002734.4:c.892-34G>T NA PRKAR1A PRKAR1A 17 66524987 A/A 19.59 NM_212471.2 intron_variant NM_212471.2:c.770-24G>A NA NM_002734.4 intron_variant NM_002734.4:c.770-24G>A NA PRKAR1A SUFU 10 104387019 C/C 28.04 NM_016169.3 intron_variant NM_016169.3:c.1365+19T>C NA NM_016169.3 intron_variant NM_016169.3:c.1365+19T>C NA SUFU DDB2 11 47259668 C/C 46.73 NM_000107.2 intron_variant NM_000107.2:c.1189-21T>C NA NM_000107.2 intron_variant NM_000107.2:c.1189-21T>C NA DDB2 MSH6 2 48033551 G/G 19.09 NM_000179.2 intron_variant NM_000179.2:c.3802-40C>G NA NM_000179.2 intron_variant NM_000179.2:c.3802-40C>G NA MSH6 CHEK2 22 29130012 C/C 30.13 NM_001005735.1 intron_variant NM_001005735.1:c.319+379A>G NA NM_007194.3 intron_variant NM_007194.3:c.319+379A>G NA CHEK2 NF1 17 29486152 A/A 49.02 NM_001042492.2 intron_variant NM_001042492.2:c.288+41G>A NA NM_000267.3 intron_variant NM_000267.3:c.288+41G>A NA NF1 NF1 17 29541437 C/C 47.4 NM_001042492.2 intron_variant NM_001042492.2:c.1393-32T>C NA NM_000267.3 intron_variant NM_000267.3:c.1393-32T>C NA NF1 NF1 17 29546175 C/C 47.34 NM_001042492.2 intron_variant NM_001042492.2:c.1641+39T>C NA NM_000267.3 intron_variant NM_000267.3:c.1641+39T>C NA NF1 NF1 17 29545987 AT/AT 0 NM_001042492.2 intron_variant NM_001042492.2:c.1528-29dupT NA NM_000267.3 intron_variant NM_000267.3:c.1528-29dupT NA NF1 EGFR 7 55228053 T/T 22.66 NM_005228.3 intron_variant NM_005228.3:c.1498+22A>T NA NM_005228.3 intron_variant NM_005228.3:c.1498+22A>T NA EGFR EXT2 11 44117898 G/G 25.82 NM_000401.3 intron_variant NM_000401.3:c.69+27T>G NA NM_207122.1 intron_variant NM_207122.1:c.-31+496T>G NA EXT2 BRIP1 17 59857809 G/G 21.03 NM_032043.2 intron_variant NM_032043.2:c.1795-47G>C NA NM_032043.2 intron_variant NM_032043.2:c.1795-47G>C NA BRIP1 DICER1 14 95566108 A/A 13 NM_177438.2 intron_variant NM_177438.2:c.4206+9G>T NA NM_177438.2 intron_variant NM_177438.2:c.4206+9G>T NA DICER1 CDH1 16 68771418 CGCCCCAGCCCCGT/CGCCCCAGCCCCGT 0 NM_004360.3 intron_variant NM_004360.3:c.48+62_48+63insCGTGCCCCAGCCC NA NM_004360.3 intron_variant NM_004360.3:c.48+62_48+63insCGTGCCCCAGCCC NA CDH1 CYLD 16 50827601 G/G 20.17 NM_015247.2 intron_variant NM_015247.2:c.2469+26A>G NA NM_001042412.1 intron_variant NM_001042412.1:c.2460+26A>G NA CYLD RET 10 43622217 T/C 24.5 NM_020975.4 intron_variant NM_020975.4:c.3187+47T>C NA NM_020975.4 intron_variant NM_020975.4:c.3187+47T>C NA RET HNF1A 12 121437221 C/C 22.3 NM_000545.5 intron_variant NM_000545.5:c.1623+29T>C NA NM_000545.5 intron_variant NM_000545.5:c.1623+29T>C NA HNF1A RUNX1 21 36357861 G/G 26.06 NM_001754.4 intron_variant NM_001754.4:c.58+63278T>C NA NM_001754.4 intron_variant NM_001754.4:c.58+63278T>C NA RUNX1 SDHAF2 11 61205434 A/A 28.19 NM_017841.2 intron_variant NM_017841.2:c.261-42G>A NA NM_017841.2 intron_variant NM_017841.2:c.261-42G>A NA SDHAF2 NF1 17 29670190 G/G 12.62 NM_001042492.2 intron_variant NM_001042492.2:c.7189+37C>G NA NM_000267.3 intron_variant NM_000267.3:c.7126+37C>G NA NF1 SDHB 1 17359676 A/A 4.09 NM_003000.2 intron_variant NM_003000.2:c.201-36G>T NA NM_003000.2 intron_variant NM_003000.2:c.201-36G>T NA SDHB RB1 13 48919358 G/G 8.63 NM_000321.2 intron_variant NM_000321.2:c.500+23T>G NA NM_000321.2 intron_variant NM_000321.2:c.500+23T>G NA RB1 RB1 13 49051012 T/T 11.5 NM_000321.2 intron_variant NM_000321.2:c.2663+33C>T NA NM_000321.2 intron_variant NM_000321.2:c.2663+33C>T NA RB1 FLCN 17 17122286 T/T 0.42 NM_144997.5 intron_variant NM_144997.5:c.1062+47G>A NA NM_144997.5 intron_variant NM_144997.5:c.1062+47G>A NA FLCN WRN 8 30916085 C/C 3.73 NM_000553.4 intron_variant NM_000553.4:c.96+26T>C NA NM_000553.4 intron_variant NM_000553.4:c.96+26T>C NA WRN WRN 8 30958353 C/C 0 NM_000553.4 intron_variant NM_000553.4:c.1982-5delT NA NM_000553.4 intron_variant NM_000553.4:c.1982-5delT NA WRN WRN 8 31005017 TC/TC 0 NM_000553.4 intron_variant NM_000553.4:c.3572+25_3572+26insC NA NM_000553.4 intron_variant NM_000553.4:c.3572+25_3572+26insC NA WRN BIVM-ERCC5,ERCC5 13 103514091 C/C 0.18 NM_001204425.1 intron_variant NM_001204425.1:c.2242+27T>C NA NM_000123.3 intron_variant NM_000123.3:c.880+27T>C NA ERCC5 BIVM-ERCC5,ERCC5 13 103518769 C/C 0.18 NM_001204425.1 intron_variant NM_001204425.1:c.3681+38T>C NA NM_000123.3 intron_variant NM_000123.3:c.2319+38T>C NA ERCC5 PALB2 16 23625463 T/T 0.32 NM_024675.3 intron_variant NM_024675.3:c.3114-51T>A NA NM_024675.3 intron_variant NM_024675.3:c.3114-51T>A NA PALB2 FANCD2 3 10115074 G/T 0 NM_033084.3 intron_variant NM_033084.3:c.2715+28G>T NA NM_033084.3 intron_variant NM_033084.3:c.2715+28G>T NA FANCD2 MLH1 3 37067093 ATATATATT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-26delATATATTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-26delATATATTT NA MLH1 WRN 8 30922628 A/G 0.04 NM_000553.4 intron_variant NM_000553.4:c.504+49A>G NA NM_000553.4 intron_variant NM_000553.4:c.504+49A>G NA WRN DDB2 11 47256988 G/A 0.02 NM_000107.2 intron_variant NM_000107.2:c.1023+25G>A NA NM_000107.2 intron_variant NM_000107.2:c.1023+25G>A NA DDB2 TP53 17 7573057 G/A 0.76 NM_000546.5 intron_variant NM_000546.5:c.1101-49C>T NA NM_000546.5 intron_variant NM_000546.5:c.1101-49C>T NA TP53 FLCN 17 17124815 C/T 9.96 NM_144997.5 intron_variant NM_144997.5:c.871+36G>A NA NM_144997.5 intron_variant NM_144997.5:c.871+36G>A NA FLCN MLH1 3 37070437 G/A 5.01 NM_000249.3 intron_variant NM_000249.3:c.1558+14G>A NA NM_000249.3 intron_variant NM_000249.3:c.1558+14G>A NA MLH1 DIS3L2 2 233199484 C/T 2.51 NM_152383.4 intron_variant NM_152383.4:c.2394+39C>T NA NM_152383.4 intron_variant NM_152383.4:c.2394+39C>T NA DIS3L2 CDH1 16 68857289 T/C 5.79 NM_004360.3 intron_variant NM_004360.3:c.1937-13T>C NA NM_004360.3 intron_variant NM_004360.3:c.1937-13T>C NA CDH1 TSC1 9 135786112 T/C 13.46 NM_000368.4 intron_variant NM_000368.4:c.1142-33A>G NA NM_000368.4 intron_variant NM_000368.4:c.1142-33A>G NA TSC1 BUB1B 15 40457431 A/C 6.19 NM_001211.5 intron_variant NM_001211.5:c.179+34A>C NA NM_001211.5 intron_variant NM_001211.5:c.179+34A>C NA BUB1B STK11 19 1219443 G/GCGGGGGC 0 NM_000455.4 intron_variant NM_000455.4:c.464+40_464+46dupGGGGGCC NA NM_000455.4 intron_variant NM_000455.4:c.464+40_464+46dupGGGGGCC NA STK11 NF2 22 30069207 T/T 5.57 NM_000268.3 intron_variant NM_000268.3:c.1123-51C>T NA NM_000268.3 intron_variant NM_000268.3:c.1123-51C>T NA NF2 CHEK2 22 29130347 G/GT 0 NM_001005735.1 intron_variant NM_001005735.1:c.319+43dupA NA NM_007194.3 intron_variant NM_007194.3:c.319+43dupA NA CHEK2 FANCA 16 89831510 C/A 9.32 NM_000135.2 intron_variant NM_000135.2:c.2602-36G>T NA NM_000135.2 intron_variant NM_000135.2:c.2602-36G>T NA FANCA STK11 19 1220321 C/C 35.96 NM_000455.4 intron_variant NM_000455.4:c.465-51T>C NA NM_000455.4 intron_variant NM_000455.4:c.465-51T>C NA STK11 STK11 19 1207238 T/T 35.34 NM_000455.4 intron_variant NM_000455.4:c.290+36G>T NA NM_000455.4 intron_variant NM_000455.4:c.290+36G>T NA STK11 XPC 3 14208625 C/C 35.56 NM_004628.4 intron_variant NM_004628.4:c.621+44C>G NA NM_004628.4 intron_variant NM_004628.4:c.621+44C>G NA XPC BMPR1A 10 88683122 T/C 49.66 NM_004329.2 intron_variant NM_004329.2:c.1343-11T>C NA NM_004329.2 intron_variant NM_004329.2:c.1343-11T>C NA BMPR1A SUFU 10 104268877 G/C 31.73 NM_016169.3 intron_variant NM_016169.3:c.183-49G>C NA NM_016169.3 intron_variant NM_016169.3:c.183-49G>C NA SUFU MSH2 2 47693959 G/A 48.34 NM_000251.2 intron_variant NM_000251.2:c.1661+12G>A NA NM_000251.2 intron_variant NM_000251.2:c.1661+12G>A NA MSH2 FANCA 16 89815217 C/T 45.51 NM_000135.2 intron_variant NM_000135.2:c.3240-42G>A NA NM_000135.2 intron_variant NM_000135.2:c.3240-42G>A NA FANCA FANCA 16 89858505 T/C 46.83 NM_000135.2 intron_variant NM_000135.2:c.1084-29A>G NA NM_000135.2 intron_variant NM_000135.2:c.1084-29A>G NA FANCA FANCA 16 89857964 T/C 42.81 NM_000135.2 intron_variant NM_000135.2:c.1226-20A>G NA NM_000135.2 intron_variant NM_000135.2:c.1226-20A>G NA FANCA FANCD2 3 10091035 T/C 43.97 NM_033084.3 intron_variant NM_033084.3:c.1414-23T>C NA NM_033084.3 intron_variant NM_033084.3:c.1414-23T>C NA FANCD2 MAX 14 65568215 G/A 48.78 NM_002382.4 intron_variant NM_002382.4:c.63+49C>T NA NM_002382.4 intron_variant NM_002382.4:c.63+49C>T NA MAX CEP57 11 95562327 A/A 20.49 NM_014679.4 intron_variant NM_014679.4:c.1128-24G>A NA NM_014679.4 intron_variant NM_014679.4:c.1128-24G>A NA CEP57 WRN 8 31000243 T/C 43.91 NM_000553.4 intron_variant NM_000553.4:c.3309+26T>C NA NM_000553.4 intron_variant NM_000553.4:c.3309+26T>C NA WRN FANCA 16 89845194 A/G 31.75 NM_000135.2 intron_variant NM_000135.2:c.1826+15T>C NA NM_000135.2 intron_variant NM_000135.2:c.1826+15T>C NA FANCA FANCA 16 89858525 C/G 29.73 NM_000135.2 intron_variant NM_000135.2:c.1084-49G>C NA NM_000135.2 intron_variant NM_000135.2:c.1084-49G>C NA FANCA RET 10 43600689 G/G 39.1 NM_020975.4 intron_variant NM_020975.4:c.867+48A>G NA NM_020975.4 intron_variant NM_020975.4:c.867+48A>G NA RET MLH1 3 37083740 A/G 31.23 NM_000249.3 intron_variant NM_000249.3:c.1668-19A>G NA NM_000249.3 intron_variant NM_000249.3:c.1668-19A>G NA MLH1 STK11 19 1219274 A/A 46.98 NM_000455.4 intron_variant NM_000455.4:c.375-49G>A NA NM_000455.4 intron_variant NM_000455.4:c.375-49G>A NA STK11 WRN 8 30977717 T/C 48.02 NM_000553.4 intron_variant NM_000553.4:c.2449-42T>C NA NM_000553.4 intron_variant NM_000553.4:c.2449-42T>C NA WRN XPC 3 14190268 C/C 32.79 NM_004628.4 intron_variant NM_004628.4:c.2251-37C>G NA NM_004628.4 intron_variant NM_004628.4:c.2251-37C>G NA XPC RHBDF2 17 74476045 G/C 45.65 NM_024599.5 intron_variant NM_024599.5:c.151-22C>G NA NM_001005498.3 intron_variant NM_001005498.3:c.151-109C>G NA RHBDF2 BRCA2 13 32936646 C/C 46.85 NM_000059.3 intron_variant NM_000059.3:c.7806-14T>C NA NM_000059.3 intron_variant NM_000059.3:c.7806-14T>C NA BRCA2 BUB1B 15 40491952 A/G 35 NM_001211.5 intron_variant NM_001211.5:c.1401+24A>G NA NM_001211.5 intron_variant NM_001211.5:c.1401+24A>G NA BUB1B FANCE 6 35425416 G/G 35.96 NM_021922.2 intron_variant NM_021922.2:c.900+39A>G NA NM_021922.2 intron_variant NM_021922.2:c.900+39A>G NA FANCE BUB1B 15 40500986 C/T 39.7 NM_001211.5 intron_variant NM_001211.5:c.2143+15C>T NA NM_001211.5 intron_variant NM_001211.5:c.2143+15C>T NA BUB1B EXT1 8 118830820 T/C 40.02 NM_000127.2 intron_variant NM_000127.2:c.1537-51A>G NA NM_000127.2 intron_variant NM_000127.2:c.1537-51A>G NA EXT1 ALK 2 29419591 T/T 42.07 NM_004304.4 intron_variant NM_004304.4:c.4164+45C>A NA NM_004304.4 intron_variant NM_004304.4:c.4164+45C>A NA ALK FANCA 16 89869761 C/C 15.71 NM_000135.2 intron_variant NM_000135.2:c.710-12A>G NA NM_000135.2 intron_variant NM_000135.2:c.710-12A>G NA FANCA FANCB X 14868806 A/G 43.36 NM_152633.2 intron_variant NM_152633.2:c.1327-10T>C NA NM_152633.2 intron_variant NM_152633.2:c.1327-10T>C NA FANCB WRN 8 30941317 T/C 48.62 NM_000553.4 intron_variant NM_000553.4:c.1350+22T>C NA NM_000553.4 intron_variant NM_000553.4:c.1350+22T>C NA WRN CDC73 1 193094375 C/C 40.97 NM_024529.4 intron_variant NM_024529.4:c.237+28T>C NA NM_024529.4 intron_variant NM_024529.4:c.237+28T>C NA CDC73 EZH2 7 148508833 G/G 30.93 NM_004456.4 intron_variant NM_004456.4:c.1852-21T>C NA NM_004456.4 intron_variant NM_004456.4:c.1852-21T>C NA EZH2 MSH6 2 48032874 ACTAT/A 0 NM_000179.2 intron_variant NM_000179.2:c.3646+35_3646+38delATCT NA NM_000179.2 intron_variant NM_000179.2:c.3646+35_3646+38delATCT NA MSH6 EZH2 7 148543525 G/G 22.96 NM_004456.4 intron_variant NM_004456.4:c.246+37T>C NA NM_004456.4 intron_variant NM_004456.4:c.246+37T>C NA EZH2 FANCE 6 35423489 G/G 22.34 NM_021922.2 intron_variant NM_021922.2:c.249-35A>G NA NM_021922.2 intron_variant NM_021922.2:c.249-35A>G NA FANCE PRKAR1A 17 66526027 G/T 21.94 NM_212471.2 intron_variant NM_212471.2:c.892-34G>T NA NM_002734.4 intron_variant NM_002734.4:c.892-34G>T NA PRKAR1A PRKAR1A 17 66524987 G/A 19.59 NM_212471.2 intron_variant NM_212471.2:c.770-24G>A NA NM_002734.4 intron_variant NM_002734.4:c.770-24G>A NA PRKAR1A SUFU 10 104387019 T/C 28.04 NM_016169.3 intron_variant NM_016169.3:c.1365+19T>C NA NM_016169.3 intron_variant NM_016169.3:c.1365+19T>C NA SUFU MSH6 2 48033551 C/G 19.09 NM_000179.2 intron_variant NM_000179.2:c.3802-40C>G NA NM_000179.2 intron_variant NM_000179.2:c.3802-40C>G NA MSH6 CHEK2 22 29130012 T/C 30.13 NM_001005735.1 intron_variant NM_001005735.1:c.319+379A>G NA NM_007194.3 intron_variant NM_007194.3:c.319+379A>G NA CHEK2 TP53 17 7579801 C/C 41.51 NM_000546.5 intron_variant NM_000546.5:c.74+38C>G NA NM_000546.5 intron_variant NM_000546.5:c.74+38C>G NA TP53 EGFR 7 55228053 A/T 22.66 NM_005228.3 intron_variant NM_005228.3:c.1498+22A>T NA NM_005228.3 intron_variant NM_005228.3:c.1498+22A>T NA EGFR BRIP1 17 59857809 C/G 21.03 NM_032043.2 intron_variant NM_032043.2:c.1795-47G>C NA NM_032043.2 intron_variant NM_032043.2:c.1795-47G>C NA BRIP1 RET 10 43622217 C/C 24.5 NM_020975.4 intron_variant NM_020975.4:c.3187+47T>C NA NM_020975.4 intron_variant NM_020975.4:c.3187+47T>C NA RET HNF1A 12 121437221 T/C 22.3 NM_000545.5 intron_variant NM_000545.5:c.1623+29T>C NA NM_000545.5 intron_variant NM_000545.5:c.1623+29T>C NA HNF1A SDHB 1 17355070 A/C 0 NM_003000.2 intron_variant NM_003000.2:c.423+25T>G NA NM_003000.2 intron_variant NM_003000.2:c.423+25T>G NA SDHB NF1 17 29563073 T/TTG 0 NM_001042492.2 intron_variant NM_001042492.2:c.3974+36_3974+37dupGT NA NM_000267.3 intron_variant NM_000267.3:c.3974+36_3974+37dupGT NA NF1 ALK 2 29449762 T/C 0.04 NM_004304.4 intron_variant NM_004304.4:c.3067+26A>G NA NM_004304.4 intron_variant NM_004304.4:c.3067+26A>G NA ALK NF1 17 29663623 T/A 0.3 NM_001042492.2 intron_variant NM_001042492.2:c.6148-30T>A NA NM_000267.3 intron_variant NM_000267.3:c.6085-30T>A NA NF1 FANCA 16 89846397 A/G 3.05 NM_000135.2 intron_variant NM_000135.2:c.1627-32T>C NA NM_000135.2 intron_variant NM_000135.2:c.1627-32T>C NA FANCA SDHD 11 111965497 T/C 11.34 NM_003002.3 intron_variant NM_003002.3:c.315-32T>C NA NM_003002.3 intron_variant NM_003002.3:c.315-32T>C NA SDHD MSH2 2 47656871 T/C 0.78 NM_000251.2 intron_variant NM_000251.2:c.1077-10T>C NA NM_000251.2 intron_variant NM_000251.2:c.1077-10T>C NA MSH2 NBN 8 90967464 CT/C 0 NM_002485.4 intron_variant NM_002485.4:c.1397+46delA NA NM_002485.4 intron_variant NM_002485.4:c.1397+46delA NA NBN MLH1 3 37050254 T/C 2.16 NM_000249.3 intron_variant NM_000249.3:c.454-51T>C NA NM_000249.3 intron_variant NM_000249.3:c.454-51T>C NA MLH1 NF1 17 29563085 T/G 9.88 NM_001042492.2 intron_variant NM_001042492.2:c.3974+46T>G NA NM_000267.3 intron_variant NM_000267.3:c.3974+46T>G NA NF1 FANCM 14 45624688 G/A 2.08 NM_020937.2 intron_variant NM_020937.2:c.1396+26G>A NA NM_020937.2 intron_variant NM_020937.2:c.1396+26G>A NA FANCM HNF1A 12 121437474 C/T 1.8 NM_000545.5 intron_variant NM_000545.5:c.1768+44C>T NA NM_000545.5 intron_variant NM_000545.5:c.1768+44C>T NA HNF1A MSH6 2 48033546 C/CT 0 NM_000179.2 intron_variant NM_000179.2:c.3802-43dupT NA NM_000179.2 intron_variant NM_000179.2:c.3802-43dupT NA MSH6 ERCC2 19 45867216 T/TG 0 NM_000400.3 intron_variant NM_000400.3:c.949+27dupC NA NM_000400.3 intron_variant NM_000400.3:c.949+27dupC NA ERCC2 BRCA1 17 41251931 A/A 9.86 NM_007300.3 intron_variant NM_007300.3:c.442-34C>T NA NM_007294.3 intron_variant NM_007294.3:c.442-34C>T NA BRCA1 HNF1A 12 121431272 T/A 25.24 NM_000545.5 intron_variant NM_000545.5:c.527-51T>A NA NM_000545.5 intron_variant NM_000545.5:c.527-51T>A NA HNF1A PRKAR1A 17 66519857 CT/CT 0 NM_212471.2 intron_variant NM_212471.2:c.349-5dupT NA NM_002734.4 intron_variant NM_002734.4:c.349-5dupT NA PRKAR1A NF1 17 29559932 C/A 45.81 NM_001042492.2 intron_variant NM_001042492.2:c.3496+33C>A NA NM_000267.3 intron_variant NM_000267.3:c.3496+33C>A NA NF1 EGFR 7 55221655 G/A 32.07 NM_005228.3 intron_variant NM_005228.3:c.748-49G>A NA NM_005228.3 intron_variant NM_005228.3:c.748-49G>A NA EGFR NBN 8 90955624 T/A 37.92 NM_002485.4 intron_variant NM_002485.4:c.2071-30A>T NA NM_002485.4 intron_variant NM_002485.4:c.2071-30A>T NA NBN NBN 8 90970935 G/A 35.3 NM_002485.4 intron_variant NM_002485.4:c.1124+18C>T NA NM_002485.4 intron_variant NM_002485.4:c.1124+18C>T NA NBN PTCH1 9 98221861 T/C 39.26 NM_000264.3 intron_variant NM_000264.3:c.2887+21A>G NA NM_000264.3 intron_variant NM_000264.3:c.2887+21A>G NA PTCH1 PTCH1 9 98229389 C/G 39.06 NM_000264.3 intron_variant NM_000264.3:c.2560+9G>C NA NM_000264.3 intron_variant NM_000264.3:c.2560+9G>C NA PTCH1 PTEN 10 89720907 G/G 43.25 NM_000314.4 intron_variant NM_000314.4:c.1026+32T>G NA NM_000314.4 intron_variant NM_000314.4:c.1026+32T>G NA PTEN RAD51C 17 56798207 T/C 20.53 NM_058216.2 intron_variant NM_058216.2:c.904+34T>C NA NM_058216.2 intron_variant NM_058216.2:c.904+34T>C NA RAD51C FANCI 15 89806710 C/T 33.89 NM_001113378.1 intron_variant NM_001113378.1:c.545+19C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.545+19C>T NA FANCI FANCI 15 89806721 G/A 33.83 NM_001113378.1 intron_variant NM_001113378.1:c.545+30G>A NA NM_001113378.1 intron_variant NM_001113378.1:c.545+30G>A NA FANCI FANCI 15 89804111 G/A 44.93 NM_001113378.1 intron_variant NM_001113378.1:c.288+37G>A NA NM_001113378.1 intron_variant NM_001113378.1:c.288+37G>A NA FANCI FANCI 15 89844688 A/C 36.26 NM_001113378.1 intron_variant NM_001113378.1:c.3006+15A>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3006+15A>C NA FANCI FANCI 15 89826496 C/T 43.93 NM_001113378.1 intron_variant NM_001113378.1:c.1698+15C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.1698+15C>T NA FANCI MSH2 2 47630550 G/G 37.16 NM_000251.2 intron_variant NM_000251.2:c.211+9C>G NA NM_000251.2 intron_variant NM_000251.2:c.211+9C>G NA MSH2 ATM 11 108098459 T/T 0 NM_000051.3 intron_variant NM_000051.3:c.72+37_72+38delAA NA NM_000051.3 intron_variant NM_000051.3:c.72+37_72+38delAA NA ATM RHBDF2 17 74476045 C/C 45.65 NM_024599.5 intron_variant NM_024599.5:c.151-22C>G NA NM_001005498.3 intron_variant NM_001005498.3:c.151-109C>G NA RHBDF2 FLCN 17 17127471 G/A 40.52 NM_144997.5 intron_variant NM_144997.5:c.397-14C>T NA NM_144997.5 intron_variant NM_144997.5:c.397-14C>T NA FLCN BIVM-ERCC5,ERCC5 13 103524762 T/T 31.71 NM_001204425.1 intron_variant NM_001204425.1:c.4241+14C>T NA NM_000123.3 intron_variant NM_000123.3:c.2879+14C>T NA ERCC5 FANCA 16 89869761 T/C 15.71 NM_000135.2 intron_variant NM_000135.2:c.710-12A>G NA NM_000135.2 intron_variant NM_000135.2:c.710-12A>G NA FANCA NF1 17 29654876 T/A 43.19 NM_001042492.2 intron_variant NM_001042492.2:c.5609+19T>A NA NM_000267.3 intron_variant NM_000267.3:c.5546+19T>A NA NF1 NF1 17 29679246 G/A 43.09 NM_001042492.2 intron_variant NM_001042492.2:c.7458-29G>A NA NM_000267.3 intron_variant NM_000267.3:c.7395-29G>A NA NF1 NF1 17 29663625 T/A 18.17 NM_001042492.2 intron_variant NM_001042492.2:c.6148-28T>A NA NM_000267.3 intron_variant NM_000267.3:c.6085-28T>A NA NF1 NF1 17 29653293 T/C 39.42 NM_001042492.2 intron_variant NM_001042492.2:c.5268+23T>C NA NM_000267.3 intron_variant NM_000267.3:c.5205+23T>C NA NF1 NF1 17 29486152 G/A 49.02 NM_001042492.2 intron_variant NM_001042492.2:c.288+41G>A NA NM_000267.3 intron_variant NM_000267.3:c.288+41G>A NA NF1 NF1 17 29541437 T/C 47.4 NM_001042492.2 intron_variant NM_001042492.2:c.1393-32T>C NA NM_000267.3 intron_variant NM_000267.3:c.1393-32T>C NA NF1 NF1 17 29546175 T/C 47.34 NM_001042492.2 intron_variant NM_001042492.2:c.1641+39T>C NA NM_000267.3 intron_variant NM_000267.3:c.1641+39T>C NA NF1 NF1 17 29545987 A/AT 0 NM_001042492.2 intron_variant NM_001042492.2:c.1528-29dupT NA NM_000267.3 intron_variant NM_000267.3:c.1528-29dupT NA NF1 CDH1 16 68842487 T/C 0 NM_004360.3 intron_variant NM_004360.3:c.531+17T>C NA NM_004360.3 intron_variant NM_004360.3:c.531+17T>C NA CDH1 FLCN 17 17119658 G/A 0 NM_144997.5 intron_variant NM_144997.5:c.1300+36C>T NA NM_144997.5 intron_variant NM_144997.5:c.1300+36C>T NA FLCN GPC3 X 132730668 TCTCAGGTGGGTCTGCACAG/T 0 NM_001164617.1 intron_variant NM_001164617.1:c.1483-60_1483-42delCTGTGCAGACCCACCTGAG NA NM_004484.3 intron_variant NM_004484.3:c.1414-60_1414-42delCTGTGCAGACCCACCTGAG NA GPC3 EGFR 7 55238941 G/A 0.38 NM_005228.3 intron_variant NM_005228.3:c.1919+35G>A NA NM_005228.3 intron_variant NM_005228.3:c.1919+35G>A NA EGFR NSD1 5 176639216 A/AT 0 NM_022455.4 intron_variant NM_022455.4:c.3796+21dupT NA NM_022455.4 intron_variant NM_022455.4:c.3796+21dupT NA NSD1 GPC3 X 132826549 A/G 0.29 NM_001164617.1 intron_variant NM_001164617.1:c.1236-27T>C NA NM_004484.3 intron_variant NM_004484.3:c.1167-27T>C NA GPC3 ALK 2 29541299 C/T 0.78 NM_004304.4 intron_variant NM_004304.4:c.1547-29G>A NA NM_004304.4 intron_variant NM_004304.4:c.1547-29G>A NA ALK TP53 17 7576841 A/G 1.62 NM_000546.5 intron_variant NM_000546.5:c.993+12T>C NA NM_000546.5 intron_variant NM_000546.5:c.993+12T>C NA TP53 RHBDF2 17 74473212 C/T 1.64 NM_024599.5 intron_variant NM_024599.5:c.1007+50G>A NA NM_001005498.3 intron_variant NM_001005498.3:c.920+50G>A NA RHBDF2 FANCE 6 35427556 G/A 18.95 NM_021922.2 intron_variant NM_021922.2:c.1316+19G>A NA NM_021922.2 intron_variant NM_021922.2:c.1316+19G>A NA FANCE DIS3L2 2 233199246 G/A 12.36 NM_152383.4 intron_variant NM_152383.4:c.2289+37G>A NA NM_152383.4 intron_variant NM_152383.4:c.2289+37G>A NA DIS3L2 XPC 3 14201352 T/C 7.07 NM_004628.4 intron_variant NM_004628.4:c.901-22A>G NA NM_004628.4 intron_variant NM_004628.4:c.901-22A>G NA XPC PTCH1 9 98231008 A/G 8.78 NM_000264.3 intron_variant NM_000264.3:c.2250+25T>C NA NM_000264.3 intron_variant NM_000264.3:c.2250+25T>C NA PTCH1 ALK 2 29462520 G/A 7.31 NM_004304.4 intron_variant NM_004304.4:c.2355+26C>T NA NM_004304.4 intron_variant NM_004304.4:c.2355+26C>T NA ALK FANCM 14 45633522 A/G 10.64 NM_020937.2 intron_variant NM_020937.2:c.1582-40A>G NA NM_020937.2 intron_variant NM_020937.2:c.1582-40A>G NA FANCM CDH1 16 68857289 C/C 5.79 NM_004360.3 intron_variant NM_004360.3:c.1937-13T>C NA NM_004360.3 intron_variant NM_004360.3:c.1937-13T>C NA CDH1 FANCM 14 45628283 TTA/T 0 NM_020937.2 intron_variant NM_020937.2:c.1397-3_1397-2delTA NA NM_020937.2 intron_variant NM_020937.2:c.1397-3_1397-2delTA NA FANCM FANCM 14 45650813 G/A 23.2 NM_020937.2 intron_variant NM_020937.2:c.4318-27G>A NA NM_020937.2 intron_variant NM_020937.2:c.4318-27G>A NA FANCM SMARCB1 22 24176287 G/A 15.18 NM_003073.3 intron_variant NM_003073.3:c.1119-41G>A NA NM_003073.3 intron_variant NM_003073.3:c.1119-41G>A NA SMARCB1 GATA2 3 128200806 G/A 12.3 NM_032638.4 intron_variant NM_032638.4:c.1018-19C>T NA NM_032638.4 intron_variant NM_032638.4:c.1018-19C>T NA GATA2 EXT2 11 44255614 T/C 31.19 NM_000401.3 intron_variant NM_000401.3:c.1906-51T>C NA NM_207122.1 intron_variant NM_207122.1:c.1807-51T>C NA EXT2 EXT2 11 44257802 T/C 30.05 NM_000401.3 intron_variant NM_000401.3:c.2035-41T>C NA NM_207122.1 intron_variant NM_207122.1:c.1936-41T>C NA EXT2 PTCH1 9 98239190 G/C 16.27 NM_000264.3 intron_variant NM_000264.3:c.1504-51C>G NA NM_000264.3 intron_variant NM_000264.3:c.1504-51C>G NA PTCH1 RET 10 43612226 C/T 12.06 NM_020975.4 intron_variant NM_020975.4:c.2284+47C>T NA NM_020975.4 intron_variant NM_020975.4:c.2284+47C>T NA RET EXT2 11 44151577 T/A 32.09 NM_000401.3 intron_variant NM_000401.3:c.1179-18T>A NA NM_207122.1 intron_variant NM_207122.1:c.1080-18T>A NA EXT2 SUFU 10 104268877 C/C 31.73 NM_016169.3 intron_variant NM_016169.3:c.183-49G>C NA NM_016169.3 intron_variant NM_016169.3:c.183-49G>C NA SUFU NBN 8 90955624 A/A 37.92 NM_002485.4 intron_variant NM_002485.4:c.2071-30A>T NA NM_002485.4 intron_variant NM_002485.4:c.2071-30A>T NA NBN NBN 8 90970935 A/A 35.3 NM_002485.4 intron_variant NM_002485.4:c.1124+18C>T NA NM_002485.4 intron_variant NM_002485.4:c.1124+18C>T NA NBN FANCA 16 89815217 T/T 45.51 NM_000135.2 intron_variant NM_000135.2:c.3240-42G>A NA NM_000135.2 intron_variant NM_000135.2:c.3240-42G>A NA FANCA FANCA 16 89858505 C/C 46.83 NM_000135.2 intron_variant NM_000135.2:c.1084-29A>G NA NM_000135.2 intron_variant NM_000135.2:c.1084-29A>G NA FANCA FANCA 16 89857964 C/C 42.81 NM_000135.2 intron_variant NM_000135.2:c.1226-20A>G NA NM_000135.2 intron_variant NM_000135.2:c.1226-20A>G NA FANCA FANCA 16 89845194 G/G 31.75 NM_000135.2 intron_variant NM_000135.2:c.1826+15T>C NA NM_000135.2 intron_variant NM_000135.2:c.1826+15T>C NA FANCA FANCA 16 89858525 G/G 29.73 NM_000135.2 intron_variant NM_000135.2:c.1084-49G>C NA NM_000135.2 intron_variant NM_000135.2:c.1084-49G>C NA FANCA FANCE 6 35425416 A/G 35.96 NM_021922.2 intron_variant NM_021922.2:c.900+39A>G NA NM_021922.2 intron_variant NM_021922.2:c.900+39A>G NA FANCE TP53 17 7579801 G/C 41.51 NM_000546.5 intron_variant NM_000546.5:c.74+38C>G NA NM_000546.5 intron_variant NM_000546.5:c.74+38C>G NA TP53 CYLD 16 50827601 A/G 20.17 NM_015247.2 intron_variant NM_015247.2:c.2469+26A>G NA NM_001042412.1 intron_variant NM_001042412.1:c.2460+26A>G NA CYLD RUNX1 21 36357861 A/G 26.06 NM_001754.4 intron_variant NM_001754.4:c.58+63278T>C NA NM_001754.4 intron_variant NM_001754.4:c.58+63278T>C NA RUNX1 EGFR 7 55241755 G/A 2.28 NM_005228.3 intron_variant NM_005228.3:c.2184+19G>A NA NM_005228.3 intron_variant NM_005228.3:c.2184+19G>A NA EGFR FANCL 2 58431410 G/C 17.67 NM_001114636.1 intron_variant NM_001114636.1:c.375-49C>G NA NM_018062.3 intron_variant NM_018062.3:c.375-49C>G NA FANCL ERCC4 16 14014278 G/A 11.2 NM_005236.2 intron_variant NM_005236.2:c.207+49G>A NA NM_005236.2 intron_variant NM_005236.2:c.207+49G>A NA ERCC4 APC 5 112116632 C/T 5.47 NM_000038.5 intron_variant NM_000038.5:c.645+32C>T NA NM_000038.5 intron_variant NM_000038.5:c.645+32C>T NA APC ALK 2 29446184 G/G 42.07 NM_004304.4 intron_variant NM_004304.4:c.3359+24G>C NA NM_004304.4 intron_variant NM_004304.4:c.3359+24G>C NA ALK MSH6 2 48030838 A/T 40.1 NM_000179.2 intron_variant NM_000179.2:c.3438+14A>T NA NM_000179.2 intron_variant NM_000179.2:c.3438+14A>T NA MSH6 FANCC 9 97873957 A/G 45.87 NM_000136.2 intron_variant NM_000136.2:c.1155-38T>C NA NM_000136.2 intron_variant NM_000136.2:c.1155-38T>C NA FANCC ERCC2 19 45872036 T/T 36.38 NM_000400.3 intron_variant NM_000400.3:c.247-35G>A NA NM_000400.3 intron_variant NM_000400.3:c.247-35G>A NA ERCC2 WRN 8 30941317 C/C 48.62 NM_000553.4 intron_variant NM_000553.4:c.1350+22T>C NA NM_000553.4 intron_variant NM_000553.4:c.1350+22T>C NA WRN EZH2 7 148508833 A/G 30.93 NM_004456.4 intron_variant NM_004456.4:c.1852-21T>C NA NM_004456.4 intron_variant NM_004456.4:c.1852-21T>C NA EZH2 EXT2 11 44117898 T/G 25.82 NM_000401.3 intron_variant NM_000401.3:c.69+27T>G NA NM_207122.1 intron_variant NM_207122.1:c.-31+496T>G NA EXT2 DICER1 14 95566108 C/A 13 NM_177438.2 intron_variant NM_177438.2:c.4206+9G>T NA NM_177438.2 intron_variant NM_177438.2:c.4206+9G>T NA DICER1 RB1 13 48919358 T/G 8.63 NM_000321.2 intron_variant NM_000321.2:c.500+23T>G NA NM_000321.2 intron_variant NM_000321.2:c.500+23T>G NA RB1 RB1 13 49051012 C/T 11.5 NM_000321.2 intron_variant NM_000321.2:c.2663+33C>T NA NM_000321.2 intron_variant NM_000321.2:c.2663+33C>T NA RB1 EXT1 8 118847632 G/A 0 NM_000127.2 intron_variant NM_000127.2:c.1164+51C>T NA NM_000127.2 intron_variant NM_000127.2:c.1164+51C>T NA EXT1 RHBDF2 17 74473698 C/A 0 NM_024599.5 intron_variant NM_024599.5:c.888+41G>T NA NM_001005498.3 intron_variant NM_001005498.3:c.801+41G>T NA RHBDF2 PMS2 7 6038703 G/A 0.56 NM_000535.5 intron_variant NM_000535.5:c.705+36C>T NA NM_000535.5 intron_variant NM_000535.5:c.705+36C>T NA PMS2 FLCN 17 17127470 C/T 6.53 NM_144997.5 intron_variant NM_144997.5:c.397-13G>A NA NM_144997.5 intron_variant NM_144997.5:c.397-13G>A NA FLCN WRN 8 30982552 G/C 4.13 NM_000553.4 intron_variant NM_000553.4:c.2825+36G>C NA NM_000553.4 intron_variant NM_000553.4:c.2825+36G>C NA WRN FANCL 2 58453930 A/G 4.27 NM_001114636.1 intron_variant NM_001114636.1:c.217-11T>C NA NM_018062.3 intron_variant NM_018062.3:c.217-11T>C NA FANCL BLM 15 91312313 G/A 16.09 NM_000057.2 intron_variant NM_000057.2:c.2308-50G>A NA NM_000057.2 intron_variant NM_000057.2:c.2308-50G>A NA BLM FLCN 17 17120344 C/T 7.69 NM_144997.5 intron_variant NM_144997.5:c.1176+39G>A NA NM_144997.5 intron_variant NM_144997.5:c.1176+39G>A NA FLCN STK11 19 1220321 T/C 35.96 NM_000455.4 intron_variant NM_000455.4:c.465-51T>C NA NM_000455.4 intron_variant NM_000455.4:c.465-51T>C NA STK11 STK11 19 1207238 G/T 35.34 NM_000455.4 intron_variant NM_000455.4:c.290+36G>T NA NM_000455.4 intron_variant NM_000455.4:c.290+36G>T NA STK11 FLCN 17 17118442 T/C 15.3 NM_144997.5 intron_variant NM_144997.5:c.1433-38A>G NA NM_144997.5 intron_variant NM_144997.5:c.1433-38A>G NA FLCN CDKN1C 11 2905204 GC/GC 0 NM_000076.2 intron_variant NM_000076.2:c.*5+24dupG NA NM_000076.2 intron_variant NM_000076.2:c.*5+24dupG NA CDKN1C HNF1A 12 121438844 C/C 36.02 NM_000545.5 intron_variant NM_000545.5:c.1769-24T>C NA NM_000545.5 intron_variant NM_000545.5:c.1769-24T>C NA HNF1A MLH1 3 37083740 G/G 31.23 NM_000249.3 intron_variant NM_000249.3:c.1668-19A>G NA NM_000249.3 intron_variant NM_000249.3:c.1668-19A>G NA MLH1 STK11 19 1219274 G/A 46.98 NM_000455.4 intron_variant NM_000455.4:c.375-49G>A NA NM_000455.4 intron_variant NM_000455.4:c.375-49G>A NA STK11 WRN 8 30977717 C/C 48.02 NM_000553.4 intron_variant NM_000553.4:c.2449-42T>C NA NM_000553.4 intron_variant NM_000553.4:c.2449-42T>C NA WRN ATM 11 108151707 T/TA 0 NM_000051.3 intron_variant NM_000051.3:c.3403-13dupA NA NM_000051.3 intron_variant NM_000051.3:c.3403-13dupA NA ATM RUNX1 21 36206932 A/A 0 NM_001754.4 intron_variant NM_001754.4:c.614-34C>T NA NM_001754.4 intron_variant NM_001754.4:c.614-34C>T NA RUNX1 MLH1 3 37055880 G/A 0 NM_000249.3 intron_variant NM_000249.3:c.678-43G>A NA NM_000249.3 intron_variant NM_000249.3:c.678-43G>A NA MLH1 APC 5 112151320 A/G 0.22 NM_000038.5 intron_variant NM_000038.5:c.933+30A>G NA NM_000038.5 intron_variant NM_000038.5:c.933+30A>G NA APC CEP57 11 95532586 GT/G 0 NM_014679.4 intron_variant NM_014679.4:c.202+38delT NA NM_014679.4 intron_variant NM_014679.4:c.202+38delT NA CEP57 TP53 17 7577644 C/G 0.5 NM_000546.5 intron_variant NM_000546.5:c.673-36G>C NA NM_000546.5 intron_variant NM_000546.5:c.673-36G>C NA TP53 SDHB 1 17371221 C/T 1.24 NM_003000.2 intron_variant NM_003000.2:c.200+35G>A NA NM_003000.2 intron_variant NM_003000.2:c.200+35G>A NA SDHB CDH1 16 68863752 G/A 1.94 NM_004360.3 intron_variant NM_004360.3:c.2439+52G>A NA NM_004360.3 intron_variant NM_004360.3:c.2439+52G>A NA CDH1 STK11 19 1218523 G/T 26.96 NM_000455.4 intron_variant NM_000455.4:c.374+24G>T NA NM_000455.4 intron_variant NM_000455.4:c.374+24G>T NA STK11 EGFR 7 55214443 G/A 5.53 NM_005228.3 intron_variant NM_005228.3:c.559+10G>A NA NM_005228.3 intron_variant NM_005228.3:c.559+10G>A NA EGFR TSC2 16 2115481 C/T 3.93 NM_000548.3 intron_variant NM_000548.3:c.1600-39C>T NA NM_000548.3 intron_variant NM_000548.3:c.1600-39C>T NA TSC2 TSC2 16 2138398 C/T 16.77 NM_000548.3 intron_variant NM_000548.3:c.5260-49C>T NA NM_000548.3 intron_variant NM_000548.3:c.5260-49C>T NA TSC2 TSC2 16 2138422 C/G 20.09 NM_000548.3 intron_variant NM_000548.3:c.5260-25C>G NA NM_000548.3 intron_variant NM_000548.3:c.5260-25C>G NA TSC2 WT1 11 32449486 C/T 26.14 NM_024426.4 intron_variant NM_024426.4:c.872+16G>A NA NM_024426.4 intron_variant NM_024426.4:c.872+16G>A NA WT1 SLX4 16 3634746 C/A 6.21 NM_032444.2 intron_variant NM_032444.2:c.4739+24G>T NA NM_032444.2 intron_variant NM_032444.2:c.4739+24G>T NA SLX4 DDB2 11 47260319 A/G 48.12 NM_000107.2 intron_variant NM_000107.2:c.1235-32A>G NA NM_000107.2 intron_variant NM_000107.2:c.1235-32A>G NA DDB2 HNF1A 12 121431300 T/T 31.87 NM_000545.5 intron_variant NM_000545.5:c.527-23C>T NA NM_000545.5 intron_variant NM_000545.5:c.527-23C>T NA HNF1A HNF1A 12 121426594 A/A 31.53 NM_000545.5 intron_variant NM_000545.5:c.327-42G>A NA NM_000545.5 intron_variant NM_000545.5:c.327-42G>A NA HNF1A DDB2 11 47259668 T/C 46.73 NM_000107.2 intron_variant NM_000107.2:c.1189-21T>C NA NM_000107.2 intron_variant NM_000107.2:c.1189-21T>C NA DDB2 NF1 17 29670190 C/G 12.62 NM_001042492.2 intron_variant NM_001042492.2:c.7189+37C>G NA NM_000267.3 intron_variant NM_000267.3:c.7126+37C>G NA NF1 XPC 3 14206917 G/A 0 NM_004628.4 intron_variant NM_004628.4:c.779+11C>T NA NM_004628.4 intron_variant NM_004628.4:c.779+11C>T NA XPC MLH1 3 37067093 A/AT 0 NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-26delATATATTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-34_1039-26delTATATATTT NA MLH1 CHEK2 22 29130374 A/G 0 NM_001005735.1 intron_variant NM_001005735.1:c.319+17T>C NA NM_007194.3 intron_variant NM_007194.3:c.319+17T>C NA CHEK2 FANCD2 3 10122745 C/T 0.24 NM_033084.3 intron_variant NM_033084.3:c.2977-39C>T NA NM_033084.3 intron_variant NM_033084.3:c.2977-39C>T NA FANCD2 FLCN 17 17120352 C/T 2.12 NM_144997.5 intron_variant NM_144997.5:c.1176+31G>A NA NM_144997.5 intron_variant NM_144997.5:c.1176+31G>A NA FLCN HNF1A 12 121437474 T/T 1.8 NM_000545.5 intron_variant NM_000545.5:c.1768+44C>T NA NM_000545.5 intron_variant NM_000545.5:c.1768+44C>T NA HNF1A TSC1 9 135776925 T/C 7.95 NM_000368.4 intron_variant NM_000368.4:c.2502+51A>G NA NM_000368.4 intron_variant NM_000368.4:c.2502+51A>G NA TSC1 NF1 17 29587341 G/C 2.71 NM_001042492.2 intron_variant NM_001042492.2:c.4431-46G>C NA NM_000267.3 intron_variant NM_000267.3:c.4368-46G>C NA NF1 TSC2 16 2138398 T/T 16.77 NM_000548.3 intron_variant NM_000548.3:c.5260-49C>T NA NM_000548.3 intron_variant NM_000548.3:c.5260-49C>T NA TSC2 TSC2 16 2138422 G/G 20.09 NM_000548.3 intron_variant NM_000548.3:c.5260-25C>G NA NM_000548.3 intron_variant NM_000548.3:c.5260-25C>G NA TSC2 BRIP1 17 59924612 G/C 21.57 NM_032043.2 intron_variant NM_032043.2:c.508-31C>G NA NM_032043.2 intron_variant NM_032043.2:c.508-31C>G NA BRIP1 CHEK2 22 29130347 GT/GT 0 NM_001005735.1 intron_variant NM_001005735.1:c.319+43dupA NA NM_007194.3 intron_variant NM_007194.3:c.319+43dupA NA CHEK2 BLM 15 91337623 AT/A 0 NM_000057.2 intron_variant NM_000057.2:c.3210+44delT NA NM_000057.2 intron_variant NM_000057.2:c.3210+44delT NA BLM BLM 15 91341599 T/G 14.48 NM_000057.2 intron_variant NM_000057.2:c.3358+32T>G NA NM_000057.2 intron_variant NM_000057.2:c.3358+32T>G NA BLM NF2 22 30038152 A/C 21.47 NM_000268.3 intron_variant NM_000268.3:c.364-39A>C NA NM_000268.3 intron_variant NM_000268.3:c.364-39A>C NA NF2 HNF1A 12 121431272 A/A 25.24 NM_000545.5 intron_variant NM_000545.5:c.527-51T>A NA NM_000545.5 intron_variant NM_000545.5:c.527-51T>A NA HNF1A TSC2 16 2138218 C/C 25.7 NM_000548.3 intron_variant NM_000548.3:c.5161-10A>C NA NM_000548.3 intron_variant NM_000548.3:c.5161-10A>C NA TSC2 RAD51C 17 56798207 C/C 20.53 NM_058216.2 intron_variant NM_058216.2:c.904+34T>C NA NM_058216.2 intron_variant NM_058216.2:c.904+34T>C NA RAD51C WRN 8 30933848 TA/T 0 NM_000553.4 intron_variant NM_000553.4:c.839+46delA NA NM_000553.4 intron_variant NM_000553.4:c.839+46delA NA WRN WRN 8 30948072 T/A 11 NM_000553.4 intron_variant NM_000553.4:c.1720+24T>A NA NM_000553.4 intron_variant NM_000553.4:c.1720+24T>A NA WRN FANCD2 3 10119928 A/G 1.3 NM_033084.3 intron_variant NM_033084.3:c.2976+47A>G NA NM_033084.3 intron_variant NM_033084.3:c.2976+47A>G NA FANCD2 RB1 13 48916895 C/T 20.07 NM_000321.2 intron_variant NM_000321.2:c.380+45C>T NA NM_000321.2 intron_variant NM_000321.2:c.380+45C>T NA RB1 RB1 13 49051481 T/A 18.87 NM_000321.2 intron_variant NM_000321.2:c.2664-10T>A NA NM_000321.2 intron_variant NM_000321.2:c.2664-10T>A NA RB1 WRN 8 31000243 C/C 43.91 NM_000553.4 intron_variant NM_000553.4:c.3309+26T>C NA NM_000553.4 intron_variant NM_000553.4:c.3309+26T>C NA WRN PTCH1 9 98247953 G/A 0 NM_000264.3 intron_variant NM_000264.3:c.584+14C>T NA NM_000264.3 intron_variant NM_000264.3:c.584+14C>T NA PTCH1 TMEM127 2 96920526 C/G 1.64 NM_017849.3 intron_variant NM_017849.3:c.409+45G>C NA NM_017849.3 intron_variant NM_017849.3:c.409+45G>C NA TMEM127 TSC2 16 2103485 C/T 0.28 NM_000548.3 intron_variant NM_000548.3:c.336+32C>T NA NM_000548.3 intron_variant NM_000548.3:c.336+32C>T NA TSC2 APC 5 112155068 G/A 0.4 NM_000038.5 intron_variant NM_000038.5:c.1312+27G>A NA NM_000038.5 intron_variant NM_000038.5:c.1312+27G>A NA APC MUTYH 1 45800033 T/C 0.94 NM_001128425.1 intron_variant NM_001128425.1:c.157+30A>G NA NM_001048172.1 intron_variant NM_001048172.1:c.115+30A>G NA MUTYH ALK 2 29456385 G/A 3.37 NM_004304.4 intron_variant NM_004304.4:c.2487+46C>T NA NM_004304.4 intron_variant NM_004304.4:c.2487+46C>T NA ALK ALK 2 29456384 T/C 3.89 NM_004304.4 intron_variant NM_004304.4:c.2487+47A>G NA NM_004304.4 intron_variant NM_004304.4:c.2487+47A>G NA ALK ALK 2 29446184 C/G 42.07 NM_004304.4 intron_variant NM_004304.4:c.3359+24G>C NA NM_004304.4 intron_variant NM_004304.4:c.3359+24G>C NA ALK BMPR1A 10 88683122 C/C 49.66 NM_004329.2 intron_variant NM_004329.2:c.1343-11T>C NA NM_004329.2 intron_variant NM_004329.2:c.1343-11T>C NA BMPR1A MSH6 2 48018314 T/A 18.55 NM_000179.2 intron_variant NM_000179.2:c.457+52T>A NA NM_000179.2 intron_variant NM_000179.2:c.457+52T>A NA MSH6 FANCE 6 35423489 A/G 22.34 NM_021922.2 intron_variant NM_021922.2:c.249-35A>G NA NM_021922.2 intron_variant NM_021922.2:c.249-35A>G NA FANCE BMPR1A 10 88683297 C/T 0.06 NM_004329.2 intron_variant NM_004329.2:c.1473+34C>T NA NM_004329.2 intron_variant NM_004329.2:c.1473+34C>T NA BMPR1A SLX4 16 3633544 C/T 0 NM_032444.2 intron_variant NM_032444.2:c.4740-33G>A NA NM_032444.2 intron_variant NM_032444.2:c.4740-33G>A NA SLX4 NF1 17 29563073 TTG/TTG 0 NM_001042492.2 intron_variant NM_001042492.2:c.3974+36_3974+37dupGT NA NM_000267.3 intron_variant NM_000267.3:c.3974+36_3974+37dupGT NA NF1 PRKAR1A 17 66511747 T/G 0.04 NM_212471.2 intron_variant NM_212471.2:c.177+30T>G NA NM_002734.4 intron_variant NM_002734.4:c.177+30T>G NA PRKAR1A EXT2 11 44193143 G/T 0.4 NM_000401.3 intron_variant NM_000401.3:c.1273-18G>T NA NM_207122.1 intron_variant NM_207122.1:c.1174-18G>T NA EXT2 RB1 13 48954175 A/T 2.29 NM_000321.2 intron_variant NM_000321.2:c.1390-14A>T NA NM_000321.2 intron_variant NM_000321.2:c.1390-14A>T NA RB1 FANCL 2 58449041 CA/C 0 NM_001114636.1 intron_variant NM_001114636.1:c.374+35delT NA NM_018062.3 intron_variant NM_018062.3:c.374+35delT NA FANCL WT1 11 32414333 T/T 12.24 NM_024426.4 intron_variant NM_024426.4:c.1250-32C>A NA NM_024426.4 intron_variant NM_024426.4:c.1250-32C>A NA WT1 FANCD2 3 10077955 A/G 18.21 NM_033084.3 intron_variant NM_033084.3:c.439-16A>G NA NM_033084.3 intron_variant NM_033084.3:c.439-16A>G NA FANCD2 FANCD2 3 10081545 G/C 18.21 NM_033084.3 intron_variant NM_033084.3:c.695+16G>C NA NM_033084.3 intron_variant NM_033084.3:c.695+16G>C NA FANCD2 FANCD2 3 10084224 C/T 21.07 NM_033084.3 intron_variant NM_033084.3:c.784-19C>T NA NM_033084.3 intron_variant NM_033084.3:c.784-19C>T NA FANCD2 FANCD2 3 10085130 C/G 21.17 NM_033084.3 intron_variant NM_033084.3:c.990-38C>G NA NM_033084.3 intron_variant NM_033084.3:c.990-38C>G NA FANCD2 FANCD2 3 10089773 A/C 17.91 NM_033084.3 intron_variant NM_033084.3:c.1413+38A>C NA NM_033084.3 intron_variant NM_033084.3:c.1413+38A>C NA FANCD2 FANCD2 3 10107520 G/T 17.53 NM_033084.3 intron_variant NM_033084.3:c.2270-28G>T NA NM_033084.3 intron_variant NM_033084.3:c.2270-28G>T NA FANCD2 FANCD2 3 10119917 T/C 21.15 NM_033084.3 intron_variant NM_033084.3:c.2976+36T>C NA NM_033084.3 intron_variant NM_033084.3:c.2976+36T>C NA FANCD2 FANCD2,FANCD2OS 3 10133949 A/G 25.42 NM_033084.3 intron_variant NM_033084.3:c.3849+13A>G NA NM_033084.3 intron_variant NM_033084.3:c.3849+13A>G NA FANCD2 FANCD2,FANCD2OS 3 10138189 T/C 24.18 NM_033084.3 intron_variant NM_033084.3:c.4185+33T>C NA NM_033084.3 intron_variant NM_033084.3:c.4185+33T>C NA FANCD2 MSH2 2 47693788 A/T 4.05 NM_000251.2 intron_variant NM_000251.2:c.1511-9A>T NA NM_000251.2 intron_variant NM_000251.2:c.1511-9A>T NA MSH2 WT1 11 32410774 G/G 49.2 NM_024426.4 intron_variant NM_024426.4:c.1433-49T>C NA NM_024426.4 intron_variant NM_024426.4:c.1433-49T>C NA WT1 CDH1 16 68820946 A/A 25.76 NM_004360.3 intron_variant NM_004360.3:c.164-14627G>A NA NM_004360.3 intron_variant NM_004360.3:c.164-14627G>A NA CDH1 FANCI 15 89806710 T/T 33.89 NM_001113378.1 intron_variant NM_001113378.1:c.545+19C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.545+19C>T NA FANCI FANCI 15 89806721 A/A 33.83 NM_001113378.1 intron_variant NM_001113378.1:c.545+30G>A NA NM_001113378.1 intron_variant NM_001113378.1:c.545+30G>A NA FANCI FANCI 15 89804111 A/A 44.93 NM_001113378.1 intron_variant NM_001113378.1:c.288+37G>A NA NM_001113378.1 intron_variant NM_001113378.1:c.288+37G>A NA FANCI FANCI 15 89844688 C/C 36.26 NM_001113378.1 intron_variant NM_001113378.1:c.3006+15A>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3006+15A>C NA FANCI FANCI 15 89826496 T/T 43.93 NM_001113378.1 intron_variant NM_001113378.1:c.1698+15C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.1698+15C>T NA FANCI HNF1A 12 121426853 C/G 0 NM_000545.5 intron_variant NM_000545.5:c.526+18C>G NA NM_000545.5 intron_variant NM_000545.5:c.526+18C>G NA HNF1A FANCA 16 89862475 C/T 0 NM_000135.2 intron_variant NM_000135.2:c.894-49G>A NA NM_000135.2 intron_variant NM_000135.2:c.894-49G>A NA FANCA MSH6 2 48032717 T/A 0.16 NM_000179.2 intron_variant NM_000179.2:c.3557-40T>A NA NM_000179.2 intron_variant NM_000179.2:c.3557-40T>A NA MSH6 NSD1 5 176675166 AT/A 0 NM_022455.4 intron_variant NM_022455.4:c.4498-10delT NA NM_022455.4 intron_variant NM_022455.4:c.4498-10delT NA NSD1 NSD1 5 176563079 A/G 1.3 NM_022455.4 intron_variant NM_022455.4:c.927+48A>G NA NM_022455.4 intron_variant NM_022455.4:c.927+48A>G NA NSD1 NSD1 5 176707544 G/A 5.15 NM_022455.4 intron_variant NM_022455.4:c.5623-22G>A NA NM_022455.4 intron_variant NM_022455.4:c.5623-22G>A NA NSD1 CDC73 1 193218843 C/G 2.89 NM_024529.4 intron_variant NM_024529.4:c.1418-17C>G NA NM_024529.4 intron_variant NM_024529.4:c.1418-17C>G NA CDC73 ERCC2 19 45867216 TG/TG 0 NM_000400.3 intron_variant NM_000400.3:c.949+27dupC NA NM_000400.3 intron_variant NM_000400.3:c.949+27dupC NA ERCC2 SDHAF2 11 61205434 G/A 28.19 NM_017841.2 intron_variant NM_017841.2:c.261-42G>A NA NM_017841.2 intron_variant NM_017841.2:c.261-42G>A NA SDHAF2 FANCD2 3 10089773 C/G 17.91 NM_033084.3 intron_variant NM_033084.3:c.1413+38A>G NA NM_033084.3 intron_variant NM_033084.3:c.1413+38A>C NA FANCD2 MLH1 3 37067099 A/T 0 NM_000249.3 intron_variant NM_000249.3:c.1039-29A>T NA NM_000249.3 intron_variant NM_000249.3:c.1039-29A>T NA MLH1 SUFU 10 104357064 C/T 0 NM_016169.3 intron_variant NM_016169.3:c.910+14C>T NA NM_016169.3 intron_variant NM_016169.3:c.910+14C>T NA SUFU ATM 11 108154920 A/G 1 NM_000051.3 intron_variant NM_000051.3:c.3747-34A>G NA NM_000051.3 intron_variant NM_000051.3:c.3747-34A>G NA ATM TSC2 16 2137985 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.5068+43G>A NA NM_000548.3 intron_variant NM_000548.3:c.5068+43G>A NA TSC2 TSC2 16 2137992 G/GC 0 NM_000548.3 intron_variant NM_000548.3:c.5068+53dupC NA NM_000548.3 intron_variant NM_000548.3:c.5068+53dupC NA TSC2 MSH6 2 48033829 C/G 0.16 NM_000179.2 intron_variant NM_000179.2:c.4001+39C>G NA NM_000179.2 intron_variant NM_000179.2:c.4001+39C>G NA MSH6 DIS3L2 2 233195514 C/G 0.06 NM_152383.4 intron_variant NM_152383.4:c.2010+28C>G NA NM_152383.4 intron_variant NM_152383.4:c.2010+28C>G NA DIS3L2 PMS2 7 6017189 T/C 0.44 NM_000535.5 intron_variant NM_000535.5:c.2445+30A>G NA NM_000535.5 intron_variant NM_000535.5:c.2445+30A>G NA PMS2 TP53 17 7573897 T/A 0.32 NM_000546.5 intron_variant NM_000546.5:c.1100+30A>T NA NM_000546.5 intron_variant NM_000546.5:c.1100+30A>T NA TP53 MSH6 2 48018030 A/G 2.2 NM_000179.2 intron_variant NM_000179.2:c.261-36A>G NA NM_000179.2 intron_variant NM_000179.2:c.261-36A>G NA MSH6 MSH2 2 47693959 A/A 48.34 NM_000251.2 intron_variant NM_000251.2:c.1661+12G>A NA NM_000251.2 intron_variant NM_000251.2:c.1661+12G>A NA MSH2 FLCN 17 17118442 C/C 15.3 NM_144997.5 intron_variant NM_144997.5:c.1433-38A>G NA NM_144997.5 intron_variant NM_144997.5:c.1433-38A>G NA FLCN FANCD2 3 10091035 C/C 43.97 NM_033084.3 intron_variant NM_033084.3:c.1414-23T>C NA NM_033084.3 intron_variant NM_033084.3:c.1414-23T>C NA FANCD2 FLCN 17 17127471 A/A 40.52 NM_144997.5 intron_variant NM_144997.5:c.397-14C>T NA NM_144997.5 intron_variant NM_144997.5:c.397-14C>T NA FLCN MLH1 3 37067097 A/T 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31A>T NA NM_000249.3 intron_variant NM_000249.3:c.1039-31A>T NA MLH1 BRCA1 17 41256089 A/A 0 NM_007300.3 intron_variant NM_007300.3:c.441+36_441+49delCTTTTCTTTTTTTT NA NM_007294.3 intron_variant NM_007294.3:c.441+36_441+49delCTTTTCTTTTTTTT NA BRCA1 CDC73 1 193117124 A/T 1.26 NM_024529.4 intron_variant NM_024529.4:c.828+29A>T NA NM_024529.4 intron_variant NM_024529.4:c.828+29A>T NA CDC73 CDH1 16 68857544 CA/CA 0 NM_004360.3 intron_variant NM_004360.3:c.2164+17dupA NA NM_004360.3 intron_variant NM_004360.3:c.2164+17dupA NA CDH1 SLX4 16 3644404 G/A 5.45 NM_032444.2 intron_variant NM_032444.2:c.2160+50C>T NA NM_032444.2 intron_variant NM_032444.2:c.2160+50C>T NA SLX4 SLX4 16 3645583 C/T 5.45 NM_032444.2 intron_variant NM_032444.2:c.2013+23G>A NA NM_032444.2 intron_variant NM_032444.2:c.2013+23G>A NA SLX4 SLX4 16 3650970 G/A 5.89 NM_032444.2 intron_variant NM_032444.2:c.1163+10C>T NA NM_032444.2 intron_variant NM_032444.2:c.1163+10C>T NA SLX4 SLX4 16 3647787 A/G 7.57 NM_032444.2 intron_variant NM_032444.2:c.1366+11T>C NA NM_032444.2 intron_variant NM_032444.2:c.1366+11T>C NA SLX4 FANCL 2 58453930 G/G 4.27 NM_001114636.1 intron_variant NM_001114636.1:c.217-11T>C NA NM_018062.3 intron_variant NM_018062.3:c.217-11T>C NA FANCL MSH6 2 48025738 C/T 0 NM_000179.2 intron_variant NM_000179.2:c.628-12C>T NA NM_000179.2 intron_variant NM_000179.2:c.628-12C>T NA MSH6 ATM 11 108121410 CTT/C 0 NM_000051.3 intron_variant NM_000051.3:c.1236-3delT NA NM_000051.3 intron_variant NM_000051.3:c.1236-17dupT NA ATM EZH2 7 148507534 C/CT 0 NM_004456.4 intron_variant NM_004456.4:c.1948-29dupA NA NM_004456.4 intron_variant NM_004456.4:c.1948-29dupA NA EZH2 FANCI 15 89844526 A/G 0.02 NM_001113378.1 intron_variant NM_001113378.1:c.2890-31A>G NA NM_001113378.1 intron_variant NM_001113378.1:c.2890-31A>G NA FANCI FANCE 6 35434010 C/T 0.04 NM_021922.2 intron_variant NM_021922.2:c.1510-11C>T NA NM_021922.2 intron_variant NM_021922.2:c.1510-11C>T NA FANCE PTCH1 9 98232081 G/A 0.04 NM_000264.3 intron_variant NM_000264.3:c.1847+14C>T NA NM_000264.3 intron_variant NM_000264.3:c.1847+14C>T NA PTCH1 FANCA 16 89845197 G/A 0.38 NM_000135.2 intron_variant NM_000135.2:c.1826+12C>T NA NM_000135.2 intron_variant NM_000135.2:c.1826+12C>T NA FANCA FANCG 9 35078100 G/A 0.9 NM_004629.1 intron_variant NM_004629.1:c.510+38C>T NA NM_004629.1 intron_variant NM_004629.1:c.510+38C>T NA FANCG STK11 19 1221161 C/T 10.1 NM_000455.4 intron_variant NM_000455.4:c.735-51C>T NA NM_000455.4 intron_variant NM_000455.4:c.735-51C>T NA STK11 PTCH1 9 98239190 C/C 16.27 NM_000264.3 intron_variant NM_000264.3:c.1504-51C>G NA NM_000264.3 intron_variant NM_000264.3:c.1504-51C>G NA PTCH1 TSC1 9 135776958 T/G 0.08 NM_000368.4 intron_variant NM_000368.4:c.2502+18A>C NA NM_000368.4 intron_variant NM_000368.4:c.2502+18A>C NA TSC1 EXT2 11 44219599 A/G 0 NM_000401.3 intron_variant NM_000401.3:c.1594+31A>G NA NM_207122.1 intron_variant NM_207122.1:c.1495+31A>G NA EXT2 HNF1A 12 121434317 C/T 0.14 NM_000545.5 intron_variant NM_000545.5:c.1108-27C>T NA NM_000545.5 intron_variant NM_000545.5:c.1108-27C>T NA HNF1A TSC2 16 2126452 A/G 0.42 NM_000548.3 intron_variant NM_000548.3:c.2743-40A>G NA NM_000548.3 intron_variant NM_000548.3:c.2743-40A>G NA TSC2 NF1 17 29563085 G/G 9.88 NM_001042492.2 intron_variant NM_001042492.2:c.3974+46T>G NA NM_000267.3 intron_variant NM_000267.3:c.3974+46T>G NA NF1 FANCA 16 89815049 T/C 1.28 NM_000135.2 intron_variant NM_000135.2:c.3348+18A>G NA NM_000135.2 intron_variant NM_000135.2:c.3348+18A>G NA FANCA WT1 11 32449486 T/T 26.14 NM_024426.4 intron_variant NM_024426.4:c.872+16G>A NA NM_024426.4 intron_variant NM_024426.4:c.872+16G>A NA WT1 NF1 17 29559932 A/A 45.81 NM_001042492.2 intron_variant NM_001042492.2:c.3496+33C>A NA NM_000267.3 intron_variant NM_000267.3:c.3496+33C>A NA NF1 DIS3L2 2 233199473 G/A 0.64 NM_152383.4 intron_variant NM_152383.4:c.2394+28G>A NA NM_152383.4 intron_variant NM_152383.4:c.2394+28G>A NA DIS3L2 EPCAM 2 47613699 T/C 2.6 NM_002354.2 intron_variant NM_002354.2:c.904-12T>C NA NM_002354.2 intron_variant NM_002354.2:c.904-12T>C NA EPCAM ERCC4 16 14038545 C/C 33.81 NM_005236.2 intron_variant NM_005236.2:c.1905-35T>C NA NM_005236.2 intron_variant NM_005236.2:c.1905-35T>C NA ERCC4 NF1 17 29663624 T/TA 18.17 NM_001042492.2 intron_variant NM_001042492.2:c.6148-29_6148-28insA NA NM_000267.3 intron_variant NM_000267.3:c.6085-29_6085-28insA NA NF1 NF1 17 29664645 T/A 14.34 NM_001042492.2 intron_variant NM_001042492.2:c.6642+45T>A NA NM_000267.3 intron_variant NM_000267.3:c.6579+45T>A NA NF1 RET 10 43596179 A/A 18.55 NM_020975.4 intron_variant NM_020975.4:c.337+9G>A NA NM_020975.4 intron_variant NM_020975.4:c.337+9G>A NA RET CEP57 11 95532375 A/G 0.02 NM_014679.4 intron_variant NM_014679.4:c.46-21A>G NA NM_014679.4 intron_variant NM_014679.4:c.46-21A>G NA CEP57 FANCM 14 45639978 T/G 0 NM_020937.2 intron_variant NM_020937.2:c.2160+29T>G NA NM_020937.2 intron_variant NM_020937.2:c.2160+29T>G NA FANCM NF1 17 29676104 C/CTTGT 0 NM_001042492.2 intron_variant NM_001042492.2:c.7190-11_7190-8dupGTTT NA NM_000267.3 intron_variant NM_000267.3:c.7127-11_7127-8dupGTTT NA NF1 BIVM-ERCC5,ERCC5 13 103504677 T/G 0.04 NM_001204425.1 intron_variant NM_001204425.1:c.1626+34T>G NA NM_000123.3 intron_variant NM_000123.3:c.264+34T>G NA ERCC5 FANCA 16 89815038 G/A 0.32 NM_000135.2 intron_variant NM_000135.2:c.3348+29C>T NA NM_000135.2 intron_variant NM_000135.2:c.3348+29C>T NA FANCA BLM 15 91312313 A/A 16.09 NM_000057.2 intron_variant NM_000057.2:c.2308-50G>A NA NM_000057.2 intron_variant NM_000057.2:c.2308-50G>A NA BLM BLM 15 91337623 A/A 0 NM_000057.2 intron_variant NM_000057.2:c.3210+44delT NA NM_000057.2 intron_variant NM_000057.2:c.3210+44delT NA BLM BLM 15 91341599 G/G 14.48 NM_000057.2 intron_variant NM_000057.2:c.3358+32T>G NA NM_000057.2 intron_variant NM_000057.2:c.3358+32T>G NA BLM NF2 22 30038152 C/C 21.47 NM_000268.3 intron_variant NM_000268.3:c.364-39A>C NA NM_000268.3 intron_variant NM_000268.3:c.364-39A>C NA NF2 CDH1 16 68867180 CCTT/C 0 NM_004360.3 intron_variant NM_004360.3:c.2440-6_2440-4delCTT NA NM_004360.3 intron_variant NM_004360.3:c.2440-6_2440-4delCTT NA CDH1 FANCC 9 97934476 A/G 0.18 NM_000136.2 intron_variant NM_000136.2:c.346-47T>C NA NM_000136.2 intron_variant NM_000136.2:c.346-47T>C NA FANCC CDH1 16 68842480 G/C 1.8 NM_004360.3 intron_variant NM_004360.3:c.531+10G>C NA NM_004360.3 intron_variant NM_004360.3:c.531+10G>C NA CDH1 CDH1 16 68771418 C/CGCCCCAGCCCCGT 0 NM_004360.3 intron_variant NM_004360.3:c.48+62_48+63insCGTGCCCCAGCCC NA NM_004360.3 intron_variant NM_004360.3:c.48+62_48+63insCGTGCCCCAGCCC NA CDH1 SDHC 1 161293485 TTA/TTA 0 NM_003001.3 intron_variant NM_003001.3:c.77+26_77+27insAT NA NM_003001.3 intron_variant NM_003001.3:c.77+26_77+27insAT NA SDHC SDHC 1 161293508 T/T 12.84 NM_003001.3 intron_variant NM_003001.3:c.77+48C>T NA NM_003001.3 intron_variant NM_003001.3:c.77+48C>T NA SDHC KIT 4 55598211 ATT/A 0 NM_000222.2 intron_variant NM_000222.2:c.2361+72delT NA NM_000222.2 intron_variant NM_000222.2:c.2361+48dupT NA KIT PMS2 7 6038722 C/C 32.57 NM_000535.5 intron_variant NM_000535.5:c.705+17A>G NA NM_000535.5 intron_variant NM_000535.5:c.705+17A>G NA PMS2 RET 10 43612226 T/T 12.06 NM_020975.4 intron_variant NM_020975.4:c.2284+47C>T NA NM_020975.4 intron_variant NM_020975.4:c.2284+47C>T NA RET DDB2 11 47260319 G/G 48.12 NM_000107.2 intron_variant NM_000107.2:c.1235-32A>G NA NM_000107.2 intron_variant NM_000107.2:c.1235-32A>G NA DDB2 RB1 13 48916895 T/T 20.07 NM_000321.2 intron_variant NM_000321.2:c.380+45C>T NA NM_000321.2 intron_variant NM_000321.2:c.380+45C>T NA RB1 RB1 13 49051481 A/A 18.87 NM_000321.2 intron_variant NM_000321.2:c.2664-10T>A NA NM_000321.2 intron_variant NM_000321.2:c.2664-10T>A NA RB1 TSC2 16 2121495 A/G 0.02 NM_000548.3 intron_variant NM_000548.3:c.1840-16A>G NA NM_000548.3 intron_variant NM_000548.3:c.1840-16A>G NA TSC2 WRN 8 30946497 T/G 0 NM_000553.4 intron_variant NM_000553.4:c.1652+16T>G NA NM_000553.4 intron_variant NM_000553.4:c.1652+16T>G NA WRN TSC1 9 135802555 C/T 0.74 NM_000368.4 intron_variant NM_000368.4:c.210+33G>A NA NM_000368.4 intron_variant NM_000368.4:c.210+33G>A NA TSC1 HRAS 11 534197 C/T 7.67 NM_005343.2 intron_variant NM_005343.2:c.111+15G>A NA NM_005343.2 intron_variant NM_005343.2:c.111+15G>A NA HRAS BUB1B 15 40453497 G/A 34.96 NM_001211.5 intron_variant NM_001211.5:c.35+41G>A NA NM_001211.5 intron_variant NM_001211.5:c.35+41G>A NA BUB1B FANCA 16 89813206 A/G 1.34 NM_000135.2 intron_variant NM_000135.2:c.3408+33T>C NA NM_000135.2 intron_variant NM_000135.2:c.3408+33T>C NA FANCA FANCA 16 89813209 G/C 0.02 NM_000135.2 intron_variant NM_000135.2:c.3408+30C>G NA NM_000135.2 intron_variant NM_000135.2:c.3408+30C>G NA FANCA TP53 17 7578146 T/C 0.5 NM_000546.5 intron_variant NM_000546.5:c.672+31A>G NA NM_000546.5 intron_variant NM_000546.5:c.672+31A>G NA TP53 NF1 17 29556837 T/C 0.56 NM_001042492.2 intron_variant NM_001042492.2:c.2851-16T>C NA NM_000267.3 intron_variant NM_000267.3:c.2851-16T>C NA NF1 BRIP1 17 59926645 C/T 0.6 NM_032043.2 intron_variant NM_032043.2:c.380-28G>A NA NM_032043.2 intron_variant NM_032043.2:c.380-28G>A NA BRIP1 PRKAR1A 17 66518882 C/T 0 NM_212471.2 intron_variant NM_212471.2:c.178-15C>T NA NM_002734.4 intron_variant NM_002734.4:c.178-15C>T NA PRKAR1A BLM 15 91303337 T/TC 0 NM_000057.2 intron_variant NM_000057.2:c.1088-37dupC NA NM_000057.2 intron_variant NM_000057.2:c.1088-37dupC NA BLM NF1 17 29508699 T/C 0.08 NM_001042492.2 intron_variant NM_001042492.2:c.655-29T>C NA NM_000267.3 intron_variant NM_000267.3:c.655-29T>C NA NF1 STK11 19 1219443 GCGGGGGC/GCGGGGGC 0 NM_000455.4 intron_variant NM_000455.4:c.464+40_464+46dupGGGGGCC NA NM_000455.4 intron_variant NM_000455.4:c.464+40_464+46dupGGGGGCC NA STK11 FANCC 9 97888873 G/A 0 NM_000136.2 intron_variant NM_000136.2:c.844-10C>T NA NM_000136.2 intron_variant NM_000136.2:c.844-10C>T NA FANCC TSC2 16 2125769 G/A 0.62 NM_000548.3 intron_variant NM_000548.3:c.2546-31G>A NA NM_000548.3 intron_variant NM_000548.3:c.2546-31G>A NA TSC2 CDH1 16 68857544 C/CA 0 NM_004360.3 intron_variant NM_004360.3:c.2164+17dupA NA NM_004360.3 intron_variant NM_004360.3:c.2164+17dupA NA CDH1 NBN 8 90958545 T/C 0.1 NM_002485.4 intron_variant NM_002485.4:c.1915-22A>G NA NM_002485.4 intron_variant NM_002485.4:c.1915-22A>G NA NBN FANCM 14 45609786 T/C 0.22 NM_020937.2 intron_variant NM_020937.2:c.682-49T>C NA NM_020937.2 intron_variant NM_020937.2:c.682-49T>C NA FANCM FANCA 16 89815201 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.3240-26C>T NA NM_000135.2 intron_variant NM_000135.2:c.3240-26C>T NA FANCA TSC2 16 2105571 C/T 0.02 NM_000548.3 intron_variant NM_000548.3:c.599+51C>T NA NM_000548.3 intron_variant NM_000548.3:c.599+51C>T NA TSC2 FANCL 2 58459258 T/C 0.04 NM_001114636.1 intron_variant NM_001114636.1:c.97-11A>G NA NM_018062.3 intron_variant NM_018062.3:c.97-11A>G NA FANCL RET 10 43602066 G/A 0.04 NM_020975.4 intron_variant NM_020975.4:c.1063+47G>A NA NM_020975.4 intron_variant NM_020975.4:c.1063+47G>A NA RET EGFR 7 55269520 A/G 0.08 NM_005228.3 intron_variant NM_005228.3:c.3162+45A>G NA NM_005228.3 intron_variant NM_005228.3:c.3162+45A>G NA EGFR RB1 13 48921923 G/A 1.18 NM_000321.2 intron_variant NM_000321.2:c.501-38G>A NA NM_000321.2 intron_variant NM_000321.2:c.501-38G>A NA RB1 RB1 13 48939015 C/A 0.38 NM_000321.2 intron_variant NM_000321.2:c.862-15C>A NA NM_000321.2 intron_variant NM_000321.2:c.862-15C>A NA RB1 TSC2 16 2129474 G/A 0.04 NM_000548.3 intron_variant NM_000548.3:c.3284+45G>A NA NM_000548.3 intron_variant NM_000548.3:c.3284+45G>A NA TSC2 XPC 3 14208630 G/A 11.06 NM_004628.4 intron_variant NM_004628.4:c.621+39C>T NA NM_004628.4 intron_variant NM_004628.4:c.621+39C>T NA XPC ATM 11 108151688 T/A 0.8 NM_000051.3 intron_variant NM_000051.3:c.3403-34T>A NA NM_000051.3 intron_variant NM_000051.3:c.3403-34T>A NA ATM SDHC 1 161293485 T/TTA 0 NM_003001.3 intron_variant NM_003001.3:c.77+26_77+27insAT NA NM_003001.3 intron_variant NM_003001.3:c.77+26_77+27insAT NA SDHC SDHC 1 161293508 C/T 12.84 NM_003001.3 intron_variant NM_003001.3:c.77+48C>T NA NM_003001.3 intron_variant NM_003001.3:c.77+48C>T NA SDHC ERCC3 2 128051080 C/A 0 NM_000122.1 intron_variant NM_000122.1:c.234+9G>T NA NM_000122.1 intron_variant NM_000122.1:c.234+9G>T NA ERCC3 MLH1 3 37050425 CT/C 0 NM_000249.3 intron_variant NM_000249.3:c.545+30delT NA NM_000249.3 intron_variant NM_000249.3:c.545+30delT NA MLH1 FLCN 17 17124804 C/T 0.08 NM_144997.5 intron_variant NM_144997.5:c.871+47G>A NA NM_144997.5 intron_variant NM_144997.5:c.871+47G>A NA FLCN FLCN 17 17125765 C/A 0.16 NM_144997.5 intron_variant NM_144997.5:c.779+50G>T NA NM_144997.5 intron_variant NM_144997.5:c.779+50G>T NA FLCN FANCD2 3 10122927 C/T 0.42 NM_033084.3 intron_variant NM_033084.3:c.3105+15C>T NA NM_033084.3 intron_variant NM_033084.3:c.3105+15C>T NA FANCD2 RHBDF2 17 74475409 G/A 2.16 NM_024599.5 intron_variant NM_024599.5:c.360-50C>T NA NM_001005498.3 intron_variant NM_001005498.3:c.273-50C>T NA RHBDF2 FANCL 2 58431410 C/C 17.67 NM_001114636.1 intron_variant NM_001114636.1:c.375-49C>G NA NM_018062.3 intron_variant NM_018062.3:c.375-49C>G NA FANCL CDC73 1 193218843 G/G 2.89 NM_024529.4 intron_variant NM_024529.4:c.1418-17C>G NA NM_024529.4 intron_variant NM_024529.4:c.1418-17C>G NA CDC73 FANCD2 3 10084856 AG/A 0 NM_033084.3 intron_variant NM_033084.3:c.989+24delG NA NM_033084.3 intron_variant NM_033084.3:c.989+24delG NA FANCD2 RAD51C 17 56780540 G/T 0.36 NM_058216.2 intron_variant NM_058216.2:c.572-17G>T NA NM_058216.2 intron_variant NM_058216.2:c.572-17G>T NA RAD51C CDC73 1 193107187 A/G 0.3 NM_024529.4 intron_variant NM_024529.4:c.424-28A>G NA NM_024529.4 intron_variant NM_024529.4:c.424-28A>G NA CDC73 SBDS 7 66459180 T/C 0.34 NM_016038.2 intron_variant NM_016038.2:c.258+19A>G NA NM_016038.2 intron_variant NM_016038.2:c.258+19A>G NA SBDS BRCA2 13 32910351 G/T 7.35 NM_000059.3 intron_variant NM_000059.3:c.1910-51G>T NA NM_000059.3 intron_variant NM_000059.3:c.1910-51G>T NA BRCA2 EGFR 7 55221655 A/A 32.07 NM_005228.3 intron_variant NM_005228.3:c.748-49G>A NA NM_005228.3 intron_variant NM_005228.3:c.748-49G>A NA EGFR RB1 13 49039094 CTT/C 0 NM_000321.2 intron_variant NM_000321.2:c.2212-16delT NA NM_000321.2 intron_variant NM_000321.2:c.2212-39dupT NA RB1 SDHC 1 161293491 TA/T 12.2 NM_003001.3 intron_variant NM_003001.3:c.77+32delA NA NM_003001.3 intron_variant NM_003001.3:c.77+32delA NA SDHC FANCD2,FANCD2OS 3 10133843 C/T 0 NM_033084.3 intron_variant NM_033084.3:c.3778-22C>T NA NM_033084.3 intron_variant NM_033084.3:c.3778-22C>T NA FANCD2 MLH1 3 37067095 ATATATTTT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-24delATATTTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-24delATATTTTT NA MLH1 GATA2 3 128200806 A/A 12.3 NM_032638.4 intron_variant NM_032638.4:c.1018-19C>T NA NM_032638.4 intron_variant NM_032638.4:c.1018-19C>T NA GATA2 WT1 11 32417962 A/G 0.16 NM_024426.4 intron_variant NM_024426.4:c.1099-9T>C NA NM_024426.4 intron_variant NM_024426.4:c.1099-9T>C NA WT1 TP53 17 7579619 G/T 7.77 NM_000546.5 intron_variant NM_000546.5:c.97-29C>A NA NM_000546.5 intron_variant NM_000546.5:c.97-29C>A NA TP53 SDHB 1 17349074 C/T 0.04 NM_003000.2 intron_variant NM_003000.2:c.765+29G>A NA NM_003000.2 intron_variant NM_003000.2:c.765+29G>A NA SDHB CDC73 1 193094368 TTATC/T 0 NM_024529.4 intron_variant NM_024529.4:c.237+29_237+32delCTAT NA NM_024529.4 intron_variant NM_024529.4:c.237+29_237+32delCTAT NA CDC73 XPC 3 14219932 G/C 0.24 NM_004628.4 intron_variant NM_004628.4:c.103+34C>G NA NM_004628.4 intron_variant NM_004628.4:c.103+34C>G NA XPC HNF1A 12 121434302 G/T 5.27 NM_000545.5 intron_variant NM_000545.5:c.1108-42G>T NA NM_000545.5 intron_variant NM_000545.5:c.1108-42G>T NA HNF1A FANCD2 3 10077955 G/G 18.21 NM_033084.3 intron_variant NM_033084.3:c.439-16A>G NA NM_033084.3 intron_variant NM_033084.3:c.439-16A>G NA FANCD2 FANCD2 3 10081545 C/C 18.21 NM_033084.3 intron_variant NM_033084.3:c.695+16G>C NA NM_033084.3 intron_variant NM_033084.3:c.695+16G>C NA FANCD2 FANCD2 3 10084224 T/T 21.07 NM_033084.3 intron_variant NM_033084.3:c.784-19C>T NA NM_033084.3 intron_variant NM_033084.3:c.784-19C>T NA FANCD2 FANCD2 3 10085130 G/G 21.17 NM_033084.3 intron_variant NM_033084.3:c.990-38C>G NA NM_033084.3 intron_variant NM_033084.3:c.990-38C>G NA FANCD2 FANCD2 3 10091049 C/T 0 NM_033084.3 intron_variant NM_033084.3:c.1414-9C>T NA NM_033084.3 intron_variant NM_033084.3:c.1414-9C>T NA FANCD2 FANCD2 3 10107520 T/T 17.53 NM_033084.3 intron_variant NM_033084.3:c.2270-28G>T NA NM_033084.3 intron_variant NM_033084.3:c.2270-28G>T NA FANCD2 FANCD2 3 10119917 C/C 21.15 NM_033084.3 intron_variant NM_033084.3:c.2976+36T>C NA NM_033084.3 intron_variant NM_033084.3:c.2976+36T>C NA FANCD2 FANCD2,FANCD2OS 3 10133949 G/G 25.42 NM_033084.3 intron_variant NM_033084.3:c.3849+13A>G NA NM_033084.3 intron_variant NM_033084.3:c.3849+13A>G NA FANCD2 FANCD2,FANCD2OS 3 10138189 C/C 24.18 NM_033084.3 intron_variant NM_033084.3:c.4185+33T>C NA NM_033084.3 intron_variant NM_033084.3:c.4185+33T>C NA FANCD2 MAX 14 65568302 G/A 0 NM_002382.4 intron_variant NM_002382.4:c.37-12C>T NA NM_002382.4 intron_variant NM_002382.4:c.37-12C>T NA MAX TSC2 16 2129455 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.3284+26G>A NA NM_000548.3 intron_variant NM_000548.3:c.3284+26G>A NA TSC2 ERCC3 2 128047101 C/G 0.86 NM_000122.1 intron_variant NM_000122.1:c.658-24G>C NA NM_000122.1 intron_variant NM_000122.1:c.658-24G>C NA ERCC3 MLH1 3 37059105 A/G 0.02 NM_000249.3 intron_variant NM_000249.3:c.884+15A>G NA NM_000249.3 intron_variant NM_000249.3:c.884+15A>G NA MLH1 WRN 8 31005017 T/TC 0 NM_000553.4 intron_variant NM_000553.4:c.3572+25_3572+26insC NA NM_000553.4 intron_variant NM_000553.4:c.3572+25_3572+26insC NA WRN CHEK2 22 29120915 T/A 0 NM_001005735.1 intron_variant NM_001005735.1:c.721+50A>T NA NM_007194.3 intron_variant NM_007194.3:c.592+50A>T NA CHEK2 FANCD2 3 10094195 T/A 0.14 NM_033084.3 intron_variant NM_033084.3:c.1656+14T>A NA NM_033084.3 intron_variant NM_033084.3:c.1656+14T>A NA FANCD2 MLH1 3 37048574 G/T 0 NM_000249.3 intron_variant NM_000249.3:c.453+20G>T NA NM_000249.3 intron_variant NM_000249.3:c.453+20G>T NA MLH1 ATM 11 108150364 TATC/T 0 NM_000051.3 intron_variant NM_000051.3:c.3402+32_3402+34delCAT NA NM_000051.3 intron_variant NM_000051.3:c.3402+32_3402+34delCAT NA ATM FANCI 15 89817386 A/T 0.38 NM_001113378.1 intron_variant NM_001113378.1:c.976-13A>T NA NM_001113378.1 intron_variant NM_001113378.1:c.976-13A>T NA FANCI FANCI 15 89828482 A/C 0.38 NM_001113378.1 intron_variant NM_001113378.1:c.1821+33A>C NA NM_001113378.1 intron_variant NM_001113378.1:c.1821+33A>C NA FANCI FANCA 16 89838267 G/C 0 NM_000135.2 intron_variant NM_000135.2:c.2015-45C>G NA NM_000135.2 intron_variant NM_000135.2:c.2015-45C>G NA FANCA CDC73 1 193205360 C/A 0 NM_024529.4 intron_variant NM_024529.4:c.1317-26C>A NA NM_024529.4 intron_variant NM_024529.4:c.1317-26C>A NA CDC73 TSC2 16 2125937 G/G 21.47 NM_000548.3 intron_variant NM_000548.3:c.2639+44C>G NA NM_000548.3 intron_variant NM_000548.3:c.2639+44C>G NA TSC2 MLH1 3 37067093 ATATATAT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-27delATATATT NA NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-27delATATATT NA MLH1 CDKN1C 11 2905195 G/A 0 NM_000076.2 intron_variant NM_000076.2:c.*5+34C>T NA NM_000076.2 intron_variant NM_000076.2:c.*5+34C>T NA CDKN1C NF1 17 29508819 ATT/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.730+32delT NA NM_000267.3 intron_variant NM_000267.3:c.730+17dupT NA NF1 EXT1 8 119122302 A/G 0.14 NM_000127.2 intron_variant NM_000127.2:c.962+22T>C NA NM_000127.2 intron_variant NM_000127.2:c.962+22T>C NA EXT1 KIT 4 55597986 T/A 0.34 NM_000222.2 intron_variant NM_000222.2:c.2234-51T>A NA NM_000222.2 intron_variant NM_000222.2:c.2234-51T>A NA KIT XPC 3 14201352 C/C 7.07 NM_004628.4 intron_variant NM_004628.4:c.901-22A>G NA NM_004628.4 intron_variant NM_004628.4:c.901-22A>G NA XPC FANCI 15 89816742 TAAA/T 0 NM_001113378.1 intron_variant NM_001113378.1:c.975+66delA NA NM_001113378.1 intron_variant NM_001113378.1:c.975+43_975+44insAA NA FANCI PMS2 7 6042307 C/T 0 NM_000535.5 intron_variant NM_000535.5:c.354-40G>A NA NM_000535.5 intron_variant NM_000535.5:c.354-40G>A NA PMS2 PMS2 7 6042310 A/G 0 NM_000535.5 intron_variant NM_000535.5:c.354-43T>C NA NM_000535.5 intron_variant NM_000535.5:c.354-43T>C NA PMS2 SBDS 7 66453508 A/T 0 NM_016038.2 intron_variant NM_016038.2:c.625-22T>A NA NM_016038.2 intron_variant NM_016038.2:c.625-22T>A NA SBDS SBDS 7 66453515 C/A 0 NM_016038.2 intron_variant NM_016038.2:c.625-29G>T NA NM_016038.2 intron_variant NM_016038.2:c.625-29G>T NA SBDS NF1 17 29554526 T/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.2326-15T>C NA NM_000267.3 intron_variant NM_000267.3:c.2326-15T>C NA NF1 NF1 17 29554529 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.2326-12C>T NA NM_000267.3 intron_variant NM_000267.3:c.2326-12C>T NA NF1 NF1 17 29556003 A/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.2410-40A>T NA NM_000267.3 intron_variant NM_000267.3:c.2410-40A>T NA NF1 NF1 17 29556493 T/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.2850+10T>G NA NM_000267.3 intron_variant NM_000267.3:c.2850+10T>G NA NF1 NF1 17 29587572 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.4577+39G>A NA NM_000267.3 intron_variant NM_000267.3:c.4514+39G>A NA NF1 NF1 17 29587576 A/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.4577+43A>T NA NM_000267.3 intron_variant NM_000267.3:c.4514+43A>T NA NF1 RET 10 43614950 C/T 0.02 NM_020975.4 intron_variant NM_020975.4:c.2393-29C>T NA NM_020975.4 intron_variant NM_020975.4:c.2393-29C>T NA RET FH 1 241669256 C/T 0.6 NM_000143.3 intron_variant NM_000143.3:c.904+47G>A NA NM_000143.3 intron_variant NM_000143.3:c.904+47G>A NA FH BMPR1A 10 88659758 T/A 5.95 NM_004329.2 intron_variant NM_004329.2:c.431-26T>A NA NM_004329.2 intron_variant NM_004329.2:c.431-26T>A NA BMPR1A FANCD2 3 10114897 A/T 0.46 NM_033084.3 intron_variant NM_033084.3:c.2606-40A>T NA NM_033084.3 intron_variant NM_033084.3:c.2606-40A>T NA FANCD2 BRCA1 17 41256100 AAAG/A 0 NM_007300.3 intron_variant NM_007300.3:c.441+36_441+38delCTT NA NM_007294.3 intron_variant NM_007294.3:c.441+36_441+38delCTT NA BRCA1 MSH6 2 48028337 T/C 0 NM_000179.2 intron_variant NM_000179.2:c.3172+43T>C NA NM_000179.2 intron_variant NM_000179.2:c.3172+43T>C NA MSH6 WRN 8 31007825 TTTGTTG/T 0 NM_000553.4 intron_variant NM_000553.4:c.3573-14_3573-9delGTTGTT NA NM_000553.4 intron_variant NM_000553.4:c.3573-14_3573-9delGTTGTT NA WRN FANCA 16 89877305 G/T 0 NM_000135.2 intron_variant NM_000135.2:c.426+32C>A NA NM_000135.2 intron_variant NM_000135.2:c.426+32C>A NA FANCA BRCA2 13 32968810 T/C 0.44 NM_000059.3 intron_variant NM_000059.3:c.9257-16T>C NA NM_000059.3 intron_variant NM_000059.3:c.9257-16T>C NA BRCA2 FANCA 16 89831510 A/A 9.32 NM_000135.2 intron_variant NM_000135.2:c.2602-36G>T NA NM_000135.2 intron_variant NM_000135.2:c.2602-36G>T NA FANCA SMARCB1 22 24135703 A/T 0.38 NM_003073.3 intron_variant NM_003073.3:c.233-43A>T NA NM_003073.3 intron_variant NM_003073.3:c.233-43A>T NA SMARCB1 MEN1 11 64577620 G/C 17.49 NM_130803.2 intron_variant NM_130803.2:c.-23-16C>G NA NM_130799.2 intron_variant NM_130799.2:c.-23-16C>G NA MEN1 DICER1 14 95566108 CAA/CAA 0 NM_177438.2 intron_variant NM_177438.2:c.4206+7_4206+8dupTT NA NM_177438.2 intron_variant NM_177438.2:c.4206+7_4206+8dupTT NA DICER1 RUNX1 21 36259125 T/C 0.24 NM_001754.4 intron_variant NM_001754.4:c.351+15A>G NA NM_001754.4 intron_variant NM_001754.4:c.351+15A>G NA RUNX1 FANCI 15 89816742 TAA/T 0 NM_001113378.1 intron_variant NM_001113378.1:c.975+66delA NA NM_001113378.1 intron_variant NM_001113378.1:c.975+43dupA NA FANCI MSH6 2 48033890 CTT/C 0 NM_000179.2 intron_variant NM_000179.2:c.4002-10delT NA NM_000179.2 intron_variant NM_000179.2:c.4002-27dupT NA MSH6 TSC2 16 2112650 CTCTG/C 0 NM_000548.3 intron_variant NM_000548.3:c.1361+54_1361+57delTCTG NA NM_000548.3 intron_variant NM_000548.3:c.1361+54_1361+57delTCTG NA TSC2 SDHB 1 17359676 C/A 4.09 NM_003000.2 intron_variant NM_003000.2:c.201-36G>T NA NM_003000.2 intron_variant NM_003000.2:c.201-36G>T NA SDHB FANCA 16 89839637 C/A 7.25 NM_000135.2 intron_variant NM_000135.2:c.2014+42G>T NA NM_000135.2 intron_variant NM_000135.2:c.2014+42G>T NA FANCA FANCA 16 89845178 T/TAC 0 NM_000135.2 intron_variant NM_000135.2:c.1826+30_1826+31insGT NA NM_000135.2 intron_variant NM_000135.2:c.1826+30_1826+31insGT NA FANCA FANCA 16 89845287 A/G 7.23 NM_000135.2 intron_variant NM_000135.2:c.1777-29T>C NA NM_000135.2 intron_variant NM_000135.2:c.1777-29T>C NA FANCA FANCA 16 89831520 A/T 7.17 NM_000135.2 intron_variant NM_000135.2:c.2602-46T>A NA NM_000135.2 intron_variant NM_000135.2:c.2602-46T>A NA FANCA FANCA 16 89813194 C/T 7.17 NM_000135.2 intron_variant NM_000135.2:c.3408+45G>A NA NM_000135.2 intron_variant NM_000135.2:c.3408+45G>A NA FANCA FANCA 16 89816333 C/T 7.17 NM_000135.2 intron_variant NM_000135.2:c.3067-23G>A NA NM_000135.2 intron_variant NM_000135.2:c.3067-23G>A NA FANCA NBN 8 90976785 T/C 0 NM_002485.4 intron_variant NM_002485.4:c.897-50A>G NA NM_002485.4 intron_variant NM_002485.4:c.897-50A>G NA NBN FANCA 16 89882410 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.80-16C>T NA NM_000135.2 intron_variant NM_000135.2:c.80-16C>T NA FANCA CDC73 1 193111214 C/T 0 NM_024529.4 intron_variant NM_024529.4:c.729+18C>T NA NM_024529.4 intron_variant NM_024529.4:c.729+18C>T NA CDC73 MLH1 3 37067099 A/ATATAT 0 NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insATATT NA NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insATATT NA MLH1 RET 10 43572809 G/A 0 NM_020975.4 intron_variant NM_020975.4:c.73+30G>A NA NM_020975.4 intron_variant NM_020975.4:c.73+30G>A NA RET BRCA2 13 32900313 T/C 0 NM_000059.3 intron_variant NM_000059.3:c.475+26T>C NA NM_000059.3 intron_variant NM_000059.3:c.475+26T>C NA BRCA2 SLX4 16 3644430 G/T 0.76 NM_032444.2 intron_variant NM_032444.2:c.2160+24C>A NA NM_032444.2 intron_variant NM_032444.2:c.2160+24C>A NA SLX4 MET 7 116422030 C/G 0.06 NM_001127500.1 intron_variant NM_001127500.1:c.3577-12C>G NA NM_000245.2 intron_variant NM_000245.2:c.3523-12C>G NA MET MLH1 3 37045863 C/A 0.32 NM_000249.3 intron_variant NM_000249.3:c.307-29C>A NA NM_000249.3 intron_variant NM_000249.3:c.307-29C>A NA MLH1 MLH1 3 37048579 A/G 0.32 NM_000249.3 intron_variant NM_000249.3:c.453+25A>G NA NM_000249.3 intron_variant NM_000249.3:c.453+25A>G NA MLH1 ATM 11 108155240 G/A 0.3 NM_000051.3 intron_variant NM_000051.3:c.3993+40G>A NA NM_000051.3 intron_variant NM_000051.3:c.3993+40G>A NA ATM ERCC4 16 14014240 A/A 22.02 NM_005236.2 intron_variant NM_005236.2:c.207+11G>A NA NM_005236.2 intron_variant NM_005236.2:c.207+11G>A NA ERCC4 ERCC4 16 14038552 A/A 21.21 NM_005236.2 intron_variant NM_005236.2:c.1905-28G>A NA NM_005236.2 intron_variant NM_005236.2:c.1905-28G>A NA ERCC4 FANCE 6 35430552 C/T 0.02 NM_021922.2 intron_variant NM_021922.2:c.1384-14C>T NA NM_021922.2 intron_variant NM_021922.2:c.1384-14C>T NA FANCE EGFR 7 55224427 A/G 0.02 NM_005228.3 intron_variant NM_005228.3:c.1134-25A>G NA NM_005228.3 intron_variant NM_005228.3:c.1134-25A>G NA EGFR ATM 11 108128189 T/C 0.02 NM_000051.3 intron_variant NM_000051.3:c.2251-19T>C NA NM_000051.3 intron_variant NM_000051.3:c.2251-19T>C NA ATM FANCM 14 45633522 G/G 10.64 NM_020937.2 intron_variant NM_020937.2:c.1582-40A>G NA NM_020937.2 intron_variant NM_020937.2:c.1582-40A>G NA FANCM FANCM 14 45628283 T/T 0 NM_020937.2 intron_variant NM_020937.2:c.1397-3_1397-2delTA NA NM_020937.2 intron_variant NM_020937.2:c.1397-3_1397-2delTA NA FANCM FANCM 14 45650813 A/A 23.2 NM_020937.2 intron_variant NM_020937.2:c.4318-27G>A NA NM_020937.2 intron_variant NM_020937.2:c.4318-27G>A NA FANCM KIT 4 55561974 G/A 0 NM_000222.2 intron_variant NM_000222.2:c.337+27G>A NA NM_000222.2 intron_variant NM_000222.2:c.337+27G>A NA KIT FANCI 15 89803902 G/T 2.53 NM_001113378.1 intron_variant NM_001113378.1:c.158-42G>T NA NM_001113378.1 intron_variant NM_001113378.1:c.158-42G>T NA FANCI ERCC2 19 45860874 G/A 0 NM_000400.3 intron_variant NM_000400.3:c.1307+14C>T NA NM_000400.3 intron_variant NM_000400.3:c.1307+14C>T NA ERCC2 RET 10 43615505 A/A 17.31 NM_020975.4 intron_variant NM_020975.4:c.2608-24G>A NA NM_020975.4 intron_variant NM_020975.4:c.2608-24G>A NA RET SDHC 1 161293488 A/T 0 NM_003001.3 intron_variant NM_003001.3:c.77+28A>T NA NM_003001.3 intron_variant NM_003001.3:c.77+28A>T NA SDHC MLH1 3 37067095 ATATATTT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-25delATATTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-25delATATTTT NA MLH1 FANCA 16 89882407 G/A 0.08 NM_000135.2 intron_variant NM_000135.2:c.80-13C>T NA NM_000135.2 intron_variant NM_000135.2:c.80-13C>T NA FANCA TSC2 16 2121978 A/G 0.26 NM_000548.3 intron_variant NM_000548.3:c.2097+43A>G NA NM_000548.3 intron_variant NM_000548.3:c.2097+43A>G NA TSC2 SDHC 1 161293492 A/T 12.2 NM_003001.3 intron_variant NM_003001.3:c.77+32A>T NA NM_003001.3 intron_variant NM_003001.3:c.77+32A>T NA SDHC NF1 17 29550443 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.1722-19G>A NA NM_000267.3 intron_variant NM_000267.3:c.1722-19G>A NA NF1 NF1 17 29550446 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.1722-16C>T NA NM_000267.3 intron_variant NM_000267.3:c.1722-16C>T NA NF1 BRIP1 17 59924612 C/C 21.57 NM_032043.2 intron_variant NM_032043.2:c.508-31C>G NA NM_032043.2 intron_variant NM_032043.2:c.508-31C>G NA BRIP1 NF1 17 29684130 G/A 0.06 NM_001042492.2 intron_variant NM_001042492.2:c.7869+22G>A NA NM_000267.3 intron_variant NM_000267.3:c.7806+22G>A NA NF1 STK11 19 1220518 A/AG 0 NM_000455.4 intron_variant NM_000455.4:c.597+21dupG NA NM_000455.4 intron_variant NM_000455.4:c.597+21dupG NA STK11 PTEN 10 89690764 A/G 0.12 NM_000314.4 intron_variant NM_000314.4:c.210-39A>G NA NM_000314.4 intron_variant NM_000314.4:c.210-39A>G NA PTEN PALB2 16 23637756 G/C 0.22 NM_024675.3 intron_variant NM_024675.3:c.2587-38C>G NA NM_024675.3 intron_variant NM_024675.3:c.2587-38C>G NA PALB2 WRN 8 30982552 C/C 4.13 NM_000553.4 intron_variant NM_000553.4:c.2825+36G>C NA NM_000553.4 intron_variant NM_000553.4:c.2825+36G>C NA WRN SLX4 16 3634746 A/A 6.21 NM_032444.2 intron_variant NM_032444.2:c.4739+24G>T NA NM_032444.2 intron_variant NM_032444.2:c.4739+24G>T NA SLX4 CEP57 11 95546792 T/C 0.72 NM_014679.4 intron_variant NM_014679.4:c.504+39T>C NA NM_014679.4 intron_variant NM_014679.4:c.504+39T>C NA CEP57 BUB1B 15 40457238 G/GT 0 NM_001211.5 intron_variant NM_001211.5:c.36-13dupT NA NM_001211.5 intron_variant NM_001211.5:c.36-13dupT NA BUB1B BUB1B 15 40476131 T/TA 0 NM_001211.5 intron_variant NM_001211.5:c.751+51dupA NA NM_001211.5 intron_variant NM_001211.5:c.751+51dupA NA BUB1B BUB1B 15 40501993 T/G 9.28 NM_001211.5 intron_variant NM_001211.5:c.2284+17T>G NA NM_001211.5 intron_variant NM_001211.5:c.2284+17T>G NA BUB1B NBN 8 90976777 C/G 0.38 NM_002485.4 intron_variant NM_002485.4:c.897-42G>C NA NM_002485.4 intron_variant NM_002485.4:c.897-42G>C NA NBN APC 5 112136954 G/C 0.02 NM_000038.5 intron_variant NM_000038.5:c.730-22G>C NA NM_000038.5 intron_variant NM_000038.5:c.730-22G>C NA APC TSC2 16 2138197 TAGTG/T 0 NM_000548.3 intron_variant NM_000548.3:c.5161-28_5161-25delTGAG NA NM_000548.3 intron_variant NM_000548.3:c.5161-28_5161-25delTGAG NA TSC2 WRN 8 30925751 T/A 3.51 NM_000553.4 intron_variant NM_000553.4:c.655-23T>A NA NM_000553.4 intron_variant NM_000553.4:c.655-23T>A NA WRN WRN 8 30921970 A/T 3.61 NM_000553.4 intron_variant NM_000553.4:c.355+20A>T NA NM_000553.4 intron_variant NM_000553.4:c.355+20A>T NA WRN SUFU 10 104375002 C/G 1.22 NM_016169.3 intron_variant NM_016169.3:c.1023-23C>G NA NM_016169.3 intron_variant NM_016169.3:c.1023-23C>G NA SUFU SDHB 1 17354373 G/GGAAGAA 0 NM_003000.2 intron_variant NM_003000.2:c.424-19_424-14dupTTCTTC NA NM_003000.2 intron_variant NM_003000.2:c.424-19_424-14dupTTCTTC NA SDHB WRN 8 30941314 A/C 0 NM_000553.4 intron_variant NM_000553.4:c.1350+19A>C NA NM_000553.4 intron_variant NM_000553.4:c.1350+19A>C NA WRN PALB2 16 23615031 C/T 0.02 NM_024675.3 intron_variant NM_024675.3:c.3351-41G>A NA NM_024675.3 intron_variant NM_024675.3:c.3351-41G>A NA PALB2 MET 7 116380867 T/A 0.08 NM_001127500.1 intron_variant NM_001127500.1:c.1528-39T>A NA NM_000245.2 intron_variant NM_000245.2:c.1528-39T>A NA MET MET 7 116380868 A/T 0.08 NM_001127500.1 intron_variant NM_001127500.1:c.1528-38A>T NA NM_000245.2 intron_variant NM_000245.2:c.1528-38A>T NA MET TSC2 16 2132422 G/A 0.12 NM_000548.3 intron_variant NM_000548.3:c.3815-15G>A NA NM_000548.3 intron_variant NM_000548.3:c.3815-15G>A NA TSC2 CYLD 16 50825440 T/C 0.14 NM_015247.2 intron_variant NM_015247.2:c.2109-29T>C NA NM_001042412.1 intron_variant NM_001042412.1:c.2100-29T>C NA CYLD BUB1B 15 40457431 C/C 6.19 NM_001211.5 intron_variant NM_001211.5:c.179+34A>C NA NM_001211.5 intron_variant NM_001211.5:c.179+34A>C NA BUB1B CHEK2 22 29115524 C/T 0 NM_001005735.1 intron_variant NM_001005735.1:c.722-51G>A NA NM_007194.3 intron_variant NM_007194.3:c.593-51G>A NA CHEK2 ATM 11 108175387 G/C 0.22 NM_000051.3 intron_variant NM_000051.3:c.5497-15G>C NA NM_000051.3 intron_variant NM_000051.3:c.5497-15G>C NA ATM MET 7 116411867 G/A 1.1 NM_001127500.1 intron_variant NM_001127500.1:c.2942-36G>A NA NM_000245.2 intron_variant NM_000245.2:c.2888-36G>A NA MET PTCH1 9 98209156 T/C 2.95 NM_000264.3 intron_variant NM_000264.3:c.*1+37A>G NA NM_000264.3 intron_variant NM_000264.3:c.*1+37A>G NA PTCH1 PTCH1 9 98211319 A/G 0.08 NM_000264.3 intron_variant NM_000264.3:c.3804+32T>C NA NM_000264.3 intron_variant NM_000264.3:c.3804+32T>C NA PTCH1 WRN 8 31014835 G/A 0.72 NM_000553.4 intron_variant NM_000553.4:c.3820-49G>A NA NM_000553.4 intron_variant NM_000553.4:c.3820-49G>A NA WRN MET 7 116422168 C/T 0 NM_001127500.1 intron_variant NM_001127500.1:c.3686+17C>T NA NM_000245.2 intron_variant NM_000245.2:c.3632+17C>T NA MET NF1 17 29533212 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.1261-46C>T NA NM_000267.3 intron_variant NM_000267.3:c.1261-46C>T NA NF1 TSC1 9 135776925 C/C 7.95 NM_000368.4 intron_variant NM_000368.4:c.2502+51A>G NA NM_000368.4 intron_variant NM_000368.4:c.2502+51A>G NA TSC1 RB1 13 48954175 T/T 2.29 NM_000321.2 intron_variant NM_000321.2:c.1390-14A>T NA NM_000321.2 intron_variant NM_000321.2:c.1390-14A>T NA RB1 XPA 9 100449578 T/G 0 NM_000380.3 intron_variant NM_000380.3:c.390-35A>C NA NM_000380.3 intron_variant NM_000380.3:c.390-35A>C NA XPA FANCI 15 89807086 C/A 0 NM_001113378.1 intron_variant NM_001113378.1:c.546-48C>A NA NM_001113378.1 intron_variant NM_001113378.1:c.546-48C>A NA FANCI SDHB 1 17371223 T/T 10.62 NM_003000.2 intron_variant NM_003000.2:c.200+33G>A NA NM_003000.2 intron_variant NM_003000.2:c.200+33G>A NA SDHB FLCN 17 17120344 T/T 7.69 NM_144997.5 intron_variant NM_144997.5:c.1176+39G>A NA NM_144997.5 intron_variant NM_144997.5:c.1176+39G>A NA FLCN FANCD2 3 10106366 T/C 0 NM_033084.3 intron_variant NM_033084.3:c.2022-47T>C NA NM_033084.3 intron_variant NM_033084.3:c.2022-47T>C NA FANCD2 FANCM 14 45658583 G/A 0 NM_020937.2 intron_variant NM_020937.2:c.5340+18G>A NA NM_020937.2 intron_variant NM_020937.2:c.5340+18G>A NA FANCM EGFR,EGFR-AS1 7 55248965 C/T 0.12 NM_005228.3 intron_variant NM_005228.3:c.2284-21C>T NA NM_005228.3 intron_variant NM_005228.3:c.2284-21C>T NA EGFR BLM 15 91290753 G/T 0.38 NM_000057.2 intron_variant NM_000057.2:c.98+33G>T NA NM_000057.2 intron_variant NM_000057.2:c.98+33G>T NA BLM FANCD2,FANCD2OS 3 10128965 CTT/C 0 NM_033084.3 intron_variant NM_033084.3:c.3466+36delT NA NM_033084.3 intron_variant NM_033084.3:c.3466+18dupT NA FANCD2 EZH2 7 148525810 G/A 0 NM_004456.4 intron_variant NM_004456.4:c.625+22C>T NA NM_004456.4 intron_variant NM_004456.4:c.625+22C>T NA EZH2 CDH1 16 68847443 G/C 2.33 NM_004360.3 intron_variant NM_004360.3:c.1320+45G>C NA NM_004360.3 intron_variant NM_004360.3:c.1320+45G>C NA CDH1 FANCA 16 89851413 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.1360-41C>T NA NM_000135.2 intron_variant NM_000135.2:c.1360-41C>T NA FANCA TSC2 16 2138432 C/T 0.16 NM_000548.3 intron_variant NM_000548.3:c.5260-15C>T NA NM_000548.3 intron_variant NM_000548.3:c.5260-15C>T NA TSC2 ERCC4 16 14014278 A/A 11.2 NM_005236.2 intron_variant NM_005236.2:c.207+49G>A NA NM_005236.2 intron_variant NM_005236.2:c.207+49G>A NA ERCC4 STK11 19 1218523 T/T 26.96 NM_000455.4 intron_variant NM_000455.4:c.374+24G>T NA NM_000455.4 intron_variant NM_000455.4:c.374+24G>T NA STK11 CDC73 1 193099415 G/A 0.02 NM_024529.4 intron_variant NM_024529.4:c.307+42G>A NA NM_024529.4 intron_variant NM_024529.4:c.307+42G>A NA CDC73 PTCH1 9 98241259 C/T 0.06 NM_000264.3 intron_variant NM_000264.3:c.1215+23G>A NA NM_000264.3 intron_variant NM_000264.3:c.1215+23G>A NA PTCH1 ERCC4 16 14026187 A/G 0.34 NM_005236.2 intron_variant NM_005236.2:c.1102+45A>G NA NM_005236.2 intron_variant NM_005236.2:c.1102+45A>G NA ERCC4 CEP57 11 95562311 C/T 0.14 NM_014679.4 intron_variant NM_014679.4:c.1128-40C>T NA NM_014679.4 intron_variant NM_014679.4:c.1128-40C>T NA CEP57 EXT2 11 44255614 C/C 31.19 NM_000401.3 intron_variant NM_000401.3:c.1906-51T>C NA NM_207122.1 intron_variant NM_207122.1:c.1807-51T>C NA EXT2 EXT2 11 44257802 C/C 30.05 NM_000401.3 intron_variant NM_000401.3:c.2035-41T>C NA NM_207122.1 intron_variant NM_207122.1:c.1936-41T>C NA EXT2 EXT2 11 44151577 A/A 32.09 NM_000401.3 intron_variant NM_000401.3:c.1179-18T>A NA NM_207122.1 intron_variant NM_207122.1:c.1080-18T>A NA EXT2 SMAD4 18 48575732 G/C 0.02 NM_005359.5 intron_variant NM_005359.5:c.454+38G>C NA NM_005359.5 intron_variant NM_005359.5:c.454+38G>C NA SMAD4 PRF1 10 72360081 C/T 1.48 NM_005041.4 intron_variant NM_005041.4:c.539+39G>A NA NM_005041.4 intron_variant NM_005041.4:c.539+39G>A NA PRF1 AIP 11 67258229 A/ATGCCCAC 0 NM_003977.2 intron_variant NM_003977.2:c.788-20_788-14dupCCCACTG NA NM_003977.2 intron_variant NM_003977.2:c.788-20_788-14dupCCCACTG NA AIP ATM 11 108114883 T/C 3.11 NM_000051.3 intron_variant NM_000051.3:c.662+38T>C NA NM_000051.3 intron_variant NM_000051.3:c.662+38T>C NA ATM TSC2 16 2110650 C/G 0 NM_000548.3 intron_variant NM_000548.3:c.976-21C>G NA NM_000548.3 intron_variant NM_000548.3:c.976-21C>G NA TSC2 ATM 11 108115778 T/G 6.23 NM_000051.3 intron_variant NM_000051.3:c.901+25T>G NA NM_000051.3 intron_variant NM_000051.3:c.901+25T>G NA ATM ATM 11 108165634 A/G 6.23 NM_000051.3 intron_variant NM_000051.3:c.4777-20A>G NA NM_000051.3 intron_variant NM_000051.3:c.4777-20A>G NA ATM SMARCB1 22 24176287 A/A 15.18 NM_003073.3 intron_variant NM_003073.3:c.1119-41G>A NA NM_003073.3 intron_variant NM_003073.3:c.1119-41G>A NA SMARCB1 CYLD 16 50827612 G/T 0 NM_015247.2 intron_variant NM_015247.2:c.2469+37G>T NA NM_001042412.1 intron_variant NM_001042412.1:c.2460+37G>T NA CYLD CDH1 16 68842770 CT/C 0 NM_004360.3 intron_variant NM_004360.3:c.687+21delT NA NM_004360.3 intron_variant NM_004360.3:c.687+21delT NA CDH1 FANCA 16 89858513 C/T 0 NM_000135.2 intron_variant NM_000135.2:c.1084-37G>A NA NM_000135.2 intron_variant NM_000135.2:c.1084-37G>A NA FANCA FANCL 2 58425818 T/C 0 NM_001114636.1 intron_variant NM_001114636.1:c.472-21A>G NA NM_018062.3 intron_variant NM_018062.3:c.472-21A>G NA FANCL FANCD2,FANCD2OS 3 10127653 A/G 0 NM_033084.3 intron_variant NM_033084.3:c.3335+47A>G NA NM_033084.3 intron_variant NM_033084.3:c.3335+47A>G NA FANCD2 TSC2 16 2108724 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.849-24C>T NA NM_000548.3 intron_variant NM_000548.3:c.849-24C>T NA TSC2 NSD1 5 176715769 AT/A 0 NM_022455.4 intron_variant NM_022455.4:c.6152-50delT NA NM_022455.4 intron_variant NM_022455.4:c.6152-50delT NA NSD1 NF1 17 29559061 ATT/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.3198-4delT NA NM_000267.3 intron_variant NM_000267.3:c.3198-29dupT NA NF1 ATM 11 108139364 T/TA 0 NM_000051.3 intron_variant NM_000051.3:c.2838+28_2838+29insA NA NM_000051.3 intron_variant NM_000051.3:c.2838+28_2838+29insA NA ATM TSC1 9 135772175 G/T 0.04 NM_000368.4 intron_variant NM_000368.4:c.2976-34C>A NA NM_000368.4 intron_variant NM_000368.4:c.2976-34C>A NA TSC1 PTEN 10 89720895 T/G 0 NM_000314.4 intron_variant NM_000314.4:c.1026+20T>G NA NM_000314.4 intron_variant NM_000314.4:c.1026+20T>G NA PTEN DICER1 14 95596551 TA/T 0 NM_177438.2 intron_variant NM_177438.2:c.439-23delT NA NM_177438.2 intron_variant NM_177438.2:c.439-23delT NA DICER1 TSC1 9 135786112 C/C 13.46 NM_000368.4 intron_variant NM_000368.4:c.1142-33A>G NA NM_000368.4 intron_variant NM_000368.4:c.1142-33A>G NA TSC1 TSC1 9 135781563 A/A 13.88 NM_000368.4 intron_variant NM_000368.4:c.1439-37C>T NA NM_000368.4 intron_variant NM_000368.4:c.1439-37C>T NA TSC1 TSC1 9 135777121 G/G 17.49 NM_000368.4 intron_variant NM_000368.4:c.2392-35T>C NA NM_000368.4 intron_variant NM_000368.4:c.2392-35T>C NA TSC1 BRIP1 17 59926633 T/TA 0.04 NM_032043.2 intron_variant NM_032043.2:c.380-17dupT NA NM_032043.2 intron_variant NM_032043.2:c.380-17dupT NA BRIP1 ATM 11 108151707 T/A 3.49 NM_000051.3 intron_variant NM_000051.3:c.3403-15T>A NA NM_000051.3 intron_variant NM_000051.3:c.3403-15T>A NA ATM MSH2 2 47702458 T/G 0.04 NM_000251.2 intron_variant NM_000251.2:c.2005+49T>G NA NM_000251.2 intron_variant NM_000251.2:c.2005+49T>G NA MSH2 BAP1 3 52443548 G/GC 0 NM_004656.3 intron_variant NM_004656.3:c.122+21dupG NA NM_004656.3 intron_variant NM_004656.3:c.122+21dupG NA BAP1 TSC2 16 2132528 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.3883+23G>A NA NM_000548.3 intron_variant NM_000548.3:c.3883+23G>A NA TSC2 ERCC2 19 45860846 C/T 0.02 NM_000400.3 intron_variant NM_000400.3:c.1307+42G>A NA NM_000400.3 intron_variant NM_000400.3:c.1307+42G>A NA ERCC2 NF1 17 29685957 G/A 0.02 NM_001042492.2 intron_variant NM_001042492.2:c.8114-30G>A NA NM_000267.3 intron_variant NM_000267.3:c.8051-30G>A NA NF1 FANCM 14 45633798 CA/C 0 NM_020937.2 intron_variant NM_020937.2:c.1788+31delA NA NM_020937.2 intron_variant NM_020937.2:c.1788+31delA NA FANCM FANCM 14 45639985 C/G 5.93 NM_020937.2 intron_variant NM_020937.2:c.2160+36C>G NA NM_020937.2 intron_variant NM_020937.2:c.2160+36C>G NA FANCM FANCM 14 45624533 G/GA 0 NM_020937.2 intron_variant NM_020937.2:c.1310-36dupA NA NM_020937.2 intron_variant NM_020937.2:c.1310-36dupA NA FANCM EZH2 7 148514272 T/C 0 NM_004456.4 intron_variant NM_004456.4:c.1410+42A>G NA NM_004456.4 intron_variant NM_004456.4:c.1410+42A>G NA EZH2 DICER1 14 95566108 C/CAA 0 NM_177438.2 intron_variant NM_177438.2:c.4206+7_4206+8dupTT NA NM_177438.2 intron_variant NM_177438.2:c.4206+7_4206+8dupTT NA DICER1 FANCA 16 89825157 G/A 0.76 NM_000135.2 intron_variant NM_000135.2:c.2853-44C>T NA NM_000135.2 intron_variant NM_000135.2:c.2853-44C>T NA FANCA EXT1 8 118825102 G/A 0 NM_000127.2 intron_variant NM_000127.2:c.1722+9C>T NA NM_000127.2 intron_variant NM_000127.2:c.1722+9C>T NA EXT1 CDH1 16 68857277 C/A 0.06 NM_004360.3 intron_variant NM_004360.3:c.1937-25C>A NA NM_004360.3 intron_variant NM_004360.3:c.1937-25C>A NA CDH1 SMARCB1 22 24175942 A/G 0.46 NM_003073.3 intron_variant NM_003073.3:c.1118+52A>G NA NM_003073.3 intron_variant NM_003073.3:c.1118+52A>G NA SMARCB1 MLH1 3 37067100 T/TATA 20.81 NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insATA NA NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insATA NA MLH1 RB1 13 48953701 C/T 0.06 NM_000321.2 intron_variant NM_000321.2:c.1333-29C>T NA NM_000321.2 intron_variant NM_000321.2:c.1333-29C>T NA RB1 BLM 15 91341406 C/G 0 NM_000057.2 intron_variant NM_000057.2:c.3211-14C>G NA NM_000057.2 intron_variant NM_000057.2:c.3211-14C>G NA BLM BRIP1 17 59820324 C/T 0 NM_032043.2 intron_variant NM_032043.2:c.2379+50G>A NA NM_032043.2 intron_variant NM_032043.2:c.2379+50G>A NA BRIP1 RB1 13 48916887 A/G 0.34 NM_000321.2 intron_variant NM_000321.2:c.380+37A>G NA NM_000321.2 intron_variant NM_000321.2:c.380+37A>G NA RB1 RB1 13 49050826 G/A 0.34 NM_000321.2 intron_variant NM_000321.2:c.2521-11G>A NA NM_000321.2 intron_variant NM_000321.2:c.2521-11G>A NA RB1 SMARCB1 22 24135703 T/T 0.38 NM_003073.3 intron_variant NM_003073.3:c.233-43A>T NA NM_003073.3 intron_variant NM_003073.3:c.233-43A>T NA SMARCB1 DICER1 14 95574125 C/G 0 NM_177438.2 intron_variant NM_177438.2:c.2651-27G>C NA NM_177438.2 intron_variant NM_177438.2:c.2651-27G>C NA DICER1 BMPR1A 10 88659672 G/A 0.28 NM_004329.2 intron_variant NM_004329.2:c.430+25G>A NA NM_004329.2 intron_variant NM_004329.2:c.430+25G>A NA BMPR1A ERCC3 2 128046899 G/A 0.08 NM_000122.1 intron_variant NM_000122.1:c.822+14C>T NA NM_000122.1 intron_variant NM_000122.1:c.822+14C>T NA ERCC3 TSC2 16 2135073 C/T 0.44 NM_000548.3 intron_variant NM_000548.3:c.4569+46C>T NA NM_000548.3 intron_variant NM_000548.3:c.4569+46C>T NA TSC2 ATM,C11ORF65 11 108186689 G/C 0 NM_000051.3 intron_variant NM_000051.3:c.6096-49G>C NA NM_000051.3 intron_variant NM_000051.3:c.6096-49G>C NA ATM TSC2 16 2133673 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.3884-23C>T NA NM_000548.3 intron_variant NM_000548.3:c.3884-23C>T NA TSC2 ALK 2 29432776 T/C 10.9 NM_004304.4 intron_variant NM_004304.4:c.3744-32A>G NA NM_004304.4 intron_variant NM_004304.4:c.3744-32A>G NA ALK APC 5 112162779 T/G 0.2 NM_000038.5 intron_variant NM_000038.5:c.1409-26T>G NA NM_000038.5 intron_variant NM_000038.5:c.1409-26T>G NA APC RB1 13 49039094 CTTT/C 0 NM_000321.2 intron_variant NM_000321.2:c.2212-17_2212-16delTT NA NM_000321.2 intron_variant NM_000321.2:c.2212-38_2212-37insT NA RB1 TSC1 9 135772184 C/G 2.49 NM_000368.4 intron_variant NM_000368.4:c.2976-43G>C NA NM_000368.4 intron_variant NM_000368.4:c.2976-43G>C NA TSC1 FANCD2,FANCD2OS 3 10128965 C/CTTT 0 NM_033084.3 intron_variant NM_033084.3:c.3466+35_3466+36dupTT NA NM_033084.3 intron_variant NM_033084.3:c.3466+18delT NA FANCD2 RECQL4 8 145742172 G/T 1.02 NM_004260.3 intron_variant NM_004260.3:c.355-24G>A NA NM_004260.3 intron_variant NM_004260.3:c.355-24G>C NA RECQL4 MSH2 2 47641385 G/A 1.44 NM_000251.2 intron_variant NM_000251.2:c.793-23G>A NA NM_000251.2 intron_variant NM_000251.2:c.793-23G>A NA MSH2 FANCD2,FANCD2OS 3 10128965 CTTT/C 0 NM_033084.3 intron_variant NM_033084.3:c.3466+36delT NA NM_033084.3 intron_variant NM_033084.3:c.3466+19_3466+20insT NA FANCD2 CDKN2A 9 21974640 C/G 0.12 NM_001195132.1 intron_variant NM_001195132.1:c.150+37G>C NA NM_058195.3 intron_variant NM_058195.3:c.194-3433G>C NA CDKN2A MSH2 2 47702451 GTT/G 0.04 NM_000251.2 intron_variant NM_000251.2:c.2005+61delT NA NM_000251.2 intron_variant NM_000251.2:c.2005+43dupT NA MSH2 NF1 17 29562901 A/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.3871-35A>C NA NM_000267.3 intron_variant NM_000267.3:c.3871-35A>C NA NF1 WRN 8 30925867 A/C 0.12 NM_000553.4 intron_variant NM_000553.4:c.724+24A>C NA NM_000553.4 intron_variant NM_000553.4:c.724+24A>C NA WRN EXT2 11 44146564 G/A 0.48 NM_000401.3 intron_variant NM_000401.3:c.1038+30G>A NA NM_207122.1 intron_variant NM_207122.1:c.939+30G>A NA EXT2 BRCA1 17 41219750 C/G 0 NM_007300.3 intron_variant NM_007300.3:c.5050-38G>C NA NM_007294.3 intron_variant NM_007294.3:c.4987-38G>C NA BRCA1 KIT 4 55593538 A/G 0.02 NM_000222.2 intron_variant NM_000222.2:c.1648-44A>G NA NM_000222.2 intron_variant NM_000222.2:c.1648-44A>G NA KIT FANCA 16 89836478 C/A 0.14 NM_000135.2 intron_variant NM_000135.2:c.2317-46G>T NA NM_000135.2 intron_variant NM_000135.2:c.2317-46G>T NA FANCA ATM 11 108150352 T/C 0.04 NM_000051.3 intron_variant NM_000051.3:c.3402+17T>C NA NM_000051.3 intron_variant NM_000051.3:c.3402+17T>C NA ATM FH 1 241667584 T/C 0.14 NM_000143.3 intron_variant NM_000143.3:c.905-39A>G NA NM_000143.3 intron_variant NM_000143.3:c.905-39A>G NA FH PRKAR1A 17 66521131 A/A 0.02 NM_212471.2 intron_variant NM_212471.2:c.549+32T>A NA NM_002734.4 intron_variant NM_002734.4:c.549+32T>A NA PRKAR1A CDH1 16 68835823 C/T 0.12 NM_004360.3 intron_variant NM_004360.3:c.387+27C>T NA NM_004360.3 intron_variant NM_004360.3:c.387+27C>T NA CDH1 PMS1 2 190717358 C/A 1.12 NM_000534.4 intron_variant NM_000534.4:c.700-23C>A NA NM_000534.4 intron_variant NM_000534.4:c.700-23C>A NA PMS1 DIS3L2 2 233198504 T/C 0.04 NM_152383.4 intron_variant NM_152383.4:c.2011-46T>C NA NM_152383.4 intron_variant NM_152383.4:c.2011-46T>C NA DIS3L2 TSC2 16 2120430 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.1717-27G>A NA NM_000548.3 intron_variant NM_000548.3:c.1717-27G>A NA TSC2 FLCN 17 17118285 A/C 0.76 NM_144997.5 intron_variant NM_144997.5:c.1538+14T>G NA NM_144997.5 intron_variant NM_144997.5:c.1538+14T>G NA FLCN FANCI 15 89805020 A/G 0.04 NM_001113378.1 intron_variant NM_001113378.1:c.446-32A>G NA NM_001113378.1 intron_variant NM_001113378.1:c.446-32A>G NA FANCI SLX4 16 3646135 G/T 0.74 NM_032444.2 intron_variant NM_032444.2:c.1924+19C>A NA NM_032444.2 intron_variant NM_032444.2:c.1924+19C>A NA SLX4 NF1 17 29685689 C/T 0.96 NM_001042492.2 intron_variant NM_001042492.2:c.8113+49C>T NA NM_000267.3 intron_variant NM_000267.3:c.8050+49C>T NA NF1 FANCI 15 89805154 C/T 0.18 NM_001113378.1 intron_variant NM_001113378.1:c.503+45C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.503+45C>T NA FANCI STK11 19 1220757 T/C 2.49 NM_000455.4 intron_variant NM_000455.4:c.734+41T>C NA NM_000455.4 intron_variant NM_000455.4:c.734+41T>C NA STK11 NF1 17 29676104 CTTGT/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.7190-11_7190-8delGTTT NA NM_000267.3 intron_variant NM_000267.3:c.7127-11_7127-8delGTTT NA NF1 PHOX2B 4 41749328 A/G 0 NM_003924.3 intron_variant NM_003924.3:c.429+38T>C NA NM_003924.3 intron_variant NM_003924.3:c.429+38T>C NA PHOX2B TP53 17 7579619 T/T 7.77 NM_000546.5 intron_variant NM_000546.5:c.97-29C>A NA NM_000546.5 intron_variant NM_000546.5:c.97-29C>A NA TP53 EZH2 7 148506363 G/G 11.36 NM_004456.4 intron_variant NM_004456.4:c.2110+39A>C NA NM_004456.4 intron_variant NM_004456.4:c.2110+39A>C NA EZH2 FANCE 6 35426247 C/T 0.36 NM_021922.2 intron_variant NM_021922.2:c.1113+30C>T NA NM_021922.2 intron_variant NM_021922.2:c.1113+30C>T NA FANCE FANCE 6 35427424 C/A 0.36 NM_021922.2 intron_variant NM_021922.2:c.1238-35C>A NA NM_021922.2 intron_variant NM_021922.2:c.1238-35C>A NA FANCE MLH1 3 37067095 A/AT 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-25delATATTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-32_1039-26delTATATTT NA MLH1 MLH1 3 37090123 A/G 0 NM_000249.3 intron_variant NM_000249.3:c.1989+23A>G NA NM_000249.3 intron_variant NM_000249.3:c.1989+23A>G NA MLH1 PTCH1 9 98224111 G/A 0 NM_000264.3 intron_variant NM_000264.3:c.2703+27C>T NA NM_000264.3 intron_variant NM_000264.3:c.2703+27C>T NA PTCH1 FANCA 16 89842257 C/G 0 NM_000135.2 intron_variant NM_000135.2:c.1827-34G>C NA NM_000135.2 intron_variant NM_000135.2:c.1827-34G>C NA FANCA ERCC2 19 45868291 T/G 3.73 NM_000400.3 intron_variant NM_000400.3:c.477+9A>C NA NM_000400.3 intron_variant NM_000400.3:c.477+9A>C NA ERCC2 FANCI 15 89816742 TGA/T 0 NM_001113378.1 intron_variant NM_001113378.1:c.975+66delA NA NM_001113378.1 intron_variant NM_001113378.1:c.975+42_975+43insG NA FANCI NSD1 5 176694514 A/G 0.62 NM_022455.4 intron_variant NM_022455.4:c.5147-49A>G NA NM_022455.4 intron_variant NM_022455.4:c.5147-49A>G NA NSD1 ATM 11 108117665 T/C 0 NM_000051.3 intron_variant NM_000051.3:c.902-26T>C NA NM_000051.3 intron_variant NM_000051.3:c.902-26T>C NA ATM TSC2 16 2134211 TG/T 0 NM_000548.3 intron_variant NM_000548.3:c.4006-15delG NA NM_000548.3 intron_variant NM_000548.3:c.4006-15delG NA TSC2 ALK 2 29448474 T/C 0.2 NM_004304.4 intron_variant NM_004304.4:c.3068-43A>G NA NM_004304.4 intron_variant NM_004304.4:c.3068-43A>G NA ALK WRN 8 30948093 CAT/C 0 NM_000553.4 intron_variant NM_000553.4:c.1720+47_1720+48delTA NA NM_000553.4 intron_variant NM_000553.4:c.1720+47_1720+48delTA NA WRN FANCM 14 45623851 T/G 0 NM_020937.2 intron_variant NM_020937.2:c.1184-49T>G NA NM_020937.2 intron_variant NM_020937.2:c.1184-49T>G NA FANCM MLH1 3 37067099 A/ATAT 0 NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insATT NA NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insATT NA MLH1 RB1 13 48916883 C/A 0 NM_000321.2 intron_variant NM_000321.2:c.380+33C>A NA NM_000321.2 intron_variant NM_000321.2:c.380+33C>A NA RB1 NF1 17 29684246 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.7870-41A>G NA NM_000267.3 intron_variant NM_000267.3:c.7807-41A>G NA NF1 SDHC 1 161293496 T/A 9.44 NM_003001.3 intron_variant NM_003001.3:c.77+36T>A NA NM_003001.3 intron_variant NM_003001.3:c.77+36T>A NA SDHC RET 10 43620286 C/T 0.04 NM_020975.4 intron_variant NM_020975.4:c.2940-45C>T NA NM_020975.4 intron_variant NM_020975.4:c.2940-45C>T NA RET BRCA2 13 32972280 G/A 0.38 NM_000059.3 intron_variant NM_000059.3:c.9649-19G>A NA NM_000059.3 intron_variant NM_000059.3:c.9649-19G>A NA BRCA2 MUTYH,TOE1 1 45805880 G/A 0.68 NM_001128425.1 intron_variant NM_001128425.1:c.36+11C>T NA NM_001048172.1 upstream_gene_variant NA NA MUTYH ALK 2 29456385 A/A 3.37 NM_004304.4 intron_variant NM_004304.4:c.2487+46C>T NA NM_004304.4 intron_variant NM_004304.4:c.2487+46C>T NA ALK ALK 2 29456384 C/C 3.89 NM_004304.4 intron_variant NM_004304.4:c.2487+47A>G NA NM_004304.4 intron_variant NM_004304.4:c.2487+47A>G NA ALK ALK 2 29462520 A/A 7.31 NM_004304.4 intron_variant NM_004304.4:c.2355+26C>T NA NM_004304.4 intron_variant NM_004304.4:c.2355+26C>T NA ALK TSC1 9 135776062 G/A 0.02 NM_000368.4 intron_variant NM_000368.4:c.2625+40C>T NA NM_000368.4 intron_variant NM_000368.4:c.2625+40C>T NA TSC1 RET 10 43595857 G/C 0 NM_020975.4 intron_variant NM_020975.4:c.74-50G>C NA NM_020975.4 intron_variant NM_020975.4:c.74-50G>C NA RET ATM 11 108121410 CTTT/C 0 NM_000051.3 intron_variant NM_000051.3:c.1236-4_1236-3delTT NA NM_000051.3 intron_variant NM_000051.3:c.1236-16_1236-15insT NA ATM PALB2 16 23646141 T/TTCA 0 NM_024675.3 intron_variant NM_024675.3:c.1684+39_1684+41dupTGA NA NM_024675.3 intron_variant NM_024675.3:c.1684+39_1684+41dupTGA NA PALB2 ERCC2 19 45860716 G/A 0.06 NM_000400.3 intron_variant NM_000400.3:c.1377+16C>T NA NM_000400.3 intron_variant NM_000400.3:c.1377+16C>T NA ERCC2 RHBDF2 17 74473212 T/T 1.64 NM_024599.5 intron_variant NM_024599.5:c.1007+50G>A NA NM_001005498.3 intron_variant NM_001005498.3:c.920+50G>A NA RHBDF2 PMS2 7 6022638 G/A 0 NM_000535.5 intron_variant NM_000535.5:c.2007-16C>T NA NM_000535.5 intron_variant NM_000535.5:c.2007-16C>T NA PMS2 SLX4 16 3633066 G/A 0 NM_032444.2 intron_variant NM_032444.2:c.5153+32C>T NA NM_032444.2 intron_variant NM_032444.2:c.5153+32C>T NA SLX4 NF1 17 29663623 T/TA 31.51 NM_001042492.2 intron_variant NM_001042492.2:c.6148-30_6148-29insA NA NM_000267.3 intron_variant NM_000267.3:c.6085-30_6085-29insA NA NF1 BRCA1 17 41256089 AAAAAAAAAGAAAAG/A 0 NM_007300.3 intron_variant NM_007300.3:c.441+36_441+49delCTTTTCTTTTTTTT NA NM_007294.3 intron_variant NM_007294.3:c.441+36_441+49delCTTTTCTTTTTTTT NA BRCA1 TP53 17 7579642 C/T 0.2 NM_000546.5 intron_variant NM_000546.5:c.97-52G>A NA NM_000546.5 intron_variant NM_000546.5:c.97-52G>A NA TP53 RB1 13 49047451 A/G 0.28 NM_000321.2 intron_variant NM_000321.2:c.2490-45A>G NA NM_000321.2 intron_variant NM_000321.2:c.2490-45A>G NA RB1 KIT 4 55573494 C/A 0.02 NM_000222.2 intron_variant NM_000222.2:c.1115+41C>A NA NM_000222.2 intron_variant NM_000222.2:c.1115+41C>A NA KIT BLM 15 91312636 G/A 0.12 NM_000057.2 intron_variant NM_000057.2:c.2407-32G>A NA NM_000057.2 intron_variant NM_000057.2:c.2407-32G>A NA BLM RET 10 43600359 G/A 0.1 NM_020975.4 intron_variant NM_020975.4:c.626-41G>A NA NM_020975.4 intron_variant NM_020975.4:c.626-41G>A NA RET CYLD 16 50825459 G/A 5.35 NM_015247.2 intron_variant NM_015247.2:c.2109-10G>A NA NM_001042412.1 intron_variant NM_001042412.1:c.2100-10G>A NA CYLD MSH2 2 47639506 TC/T 0 NM_000251.2 intron_variant NM_000251.2:c.646-46delC NA NM_000251.2 intron_variant NM_000251.2:c.646-46delC NA MSH2 FANCI 15 89857802 C/A 0.02 NM_001113378.1 intron_variant NM_001113378.1:c.3721-41C>A NA NM_001113378.1 intron_variant NM_001113378.1:c.3721-41C>A NA FANCI FANCA 16 89836222 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.2504+23C>T NA NM_000135.2 intron_variant NM_000135.2:c.2504+23C>T NA FANCA NF1 17 29576155 GAT/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.4110+19_4110+20delAT NA NM_000267.3 intron_variant NM_000267.3:c.4110+19_4110+20delAT NA NF1 ATM 11 108150207 C/C 0 NM_000051.3 intron_variant NM_000051.3:c.3285-9delT NA NM_000051.3 intron_variant NM_000051.3:c.3285-9delT NA ATM RET 10 43600379 C/T 0 NM_020975.4 intron_variant NM_020975.4:c.626-21C>T NA NM_020975.4 intron_variant NM_020975.4:c.626-21C>T NA RET FANCA 16 89813346 C/T 0.02 NM_000135.2 intron_variant NM_000135.2:c.3349-48G>A NA NM_000135.2 intron_variant NM_000135.2:c.3349-48G>A NA FANCA CHEK2 22 29115487 G/A 0.2 NM_001005735.1 intron_variant NM_001005735.1:c.722-14C>T NA NM_007194.3 intron_variant NM_007194.3:c.593-14C>T NA CHEK2 MSH2 2 47702450 TG/T 0 NM_000251.2 intron_variant NM_000251.2:c.2005+42delG NA NM_000251.2 intron_variant NM_000251.2:c.2005+42delG NA MSH2 FLCN 17 17122286 C/T 0.42 NM_144997.5 intron_variant NM_144997.5:c.1062+47G>A NA NM_144997.5 intron_variant NM_144997.5:c.1062+47G>A NA FLCN SMAD4 18 48591747 A/T 0 NM_005359.5 intron_variant NM_005359.5:c.956-46A>T NA NM_005359.5 intron_variant NM_005359.5:c.956-46A>T NA SMAD4 ERCC2 19 45873501 G/A 0 NM_000400.3 intron_variant NM_000400.3:c.6-11C>T NA NM_000400.3 intron_variant NM_000400.3:c.6-11C>T NA ERCC2 TSC2 16 2115506 T/T 3.43 NM_000548.3 intron_variant NM_000548.3:c.1600-14C>T NA NM_000548.3 intron_variant NM_000548.3:c.1600-14C>T NA TSC2 FANCA 16 89858838 G/A 0.06 NM_000135.2 intron_variant NM_000135.2:c.1083+41C>T NA NM_000135.2 intron_variant NM_000135.2:c.1083+41C>T NA FANCA CDC73 1 193107353 G/T 0 NM_024529.4 intron_variant NM_024529.4:c.512+50G>T NA NM_024529.4 intron_variant NM_024529.4:c.512+50G>T NA CDC73 MSH2 2 47702456 T/G 0 NM_000251.2 intron_variant NM_000251.2:c.2005+47T>G NA NM_000251.2 intron_variant NM_000251.2:c.2005+47T>G NA MSH2 MLH1 3 37053636 TG/T 0 NM_000249.3 intron_variant NM_000249.3:c.677+48delG NA NM_000249.3 intron_variant NM_000249.3:c.677+48delG NA MLH1 MLH1 3 37067081 A/C 0 NM_000249.3 intron_variant NM_000249.3:c.1039-47A>C NA NM_000249.3 intron_variant NM_000249.3:c.1039-47A>C NA MLH1 AIP 11 67256953 C/G 0 NM_003977.2 intron_variant NM_003977.2:c.468+27C>G NA NM_003977.2 intron_variant NM_003977.2:c.468+27C>G NA AIP TSC2 16 2115666 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.1716+30C>T NA NM_000548.3 intron_variant NM_000548.3:c.1716+30C>T NA TSC2 EGFR 7 55214443 A/A 5.53 NM_005228.3 intron_variant NM_005228.3:c.559+10G>A NA NM_005228.3 intron_variant NM_005228.3:c.559+10G>A NA EGFR ERCC3 2 128047859 C/T 0 NM_000122.1 intron_variant NM_000122.1:c.472-10G>A NA NM_000122.1 intron_variant NM_000122.1:c.472-10G>A NA ERCC3 RET 10 43606640 C/T 0 NM_020975.4 intron_variant NM_020975.4:c.1264-15C>T NA NM_020975.4 intron_variant NM_020975.4:c.1264-15C>T NA RET SDHAF2 11 61213367 T/C 0 NM_017841.2 intron_variant NM_017841.2:c.371-46T>C NA NM_017841.2 intron_variant NM_017841.2:c.371-46T>C NA SDHAF2 TSC2 16 2129465 C/G 0 NM_000548.3 intron_variant NM_000548.3:c.3284+36C>G NA NM_000548.3 intron_variant NM_000548.3:c.3284+36C>G NA TSC2 NSD1 5 176671297 C/T 0.06 NM_022455.4 intron_variant NM_022455.4:c.4378+26C>T NA NM_022455.4 intron_variant NM_022455.4:c.4378+26C>T NA NSD1 DIS3L2 2 233199477 A/G 0 NM_152383.4 intron_variant NM_152383.4:c.2394+32A>G NA NM_152383.4 intron_variant NM_152383.4:c.2394+32A>G NA DIS3L2 BRCA2 13 32900793 G/T 0 NM_000059.3 intron_variant NM_000059.3:c.631+43G>T NA NM_000059.3 intron_variant NM_000059.3:c.631+43G>T NA BRCA2 WRN 8 31004843 C/T 0.1 NM_000553.4 intron_variant NM_000553.4:c.3460-37C>T NA NM_000553.4 intron_variant NM_000553.4:c.3460-37C>T NA WRN SLX4 16 3652340 A/C 0.24 NM_032444.2 intron_variant NM_032444.2:c.761-32T>G NA NM_032444.2 intron_variant NM_032444.2:c.761-32T>G NA SLX4 FANCD2,FANCD2OS 3 10131954 G/A 0.76 NM_033084.3 intron_variant NM_033084.3:c.3684-22G>A NA NM_033084.3 intron_variant NM_033084.3:c.3684-22G>A NA FANCD2 MSH2 2 47693768 T/C 0.04 NM_000251.2 intron_variant NM_000251.2:c.1511-29T>C NA NM_000251.2 intron_variant NM_000251.2:c.1511-29T>C NA MSH2 NF1 17 29554205 A/T 0.1 NM_001042492.2 intron_variant NM_001042492.2:c.2252-31A>T NA NM_000267.3 intron_variant NM_000267.3:c.2252-31A>T NA NF1 TP53 17 7576988 T/TCC 0 NM_000546.5 intron_variant NM_000546.5:c.919+29_919+30dupGG NA NM_000546.5 intron_variant NM_000546.5:c.919+29_919+30dupGG NA TP53 KIT 4 55602836 T/C 0.04 NM_000222.2 intron_variant NM_000222.2:c.2597-51T>C NA NM_000222.2 intron_variant NM_000222.2:c.2597-51T>C NA KIT TSC2 16 2121637 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.1946+20C>T NA NM_000548.3 intron_variant NM_000548.3:c.1946+20C>T NA TSC2 MLH1 3 37067093 ATATATATTT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-25delATATATTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-25delATATATTTT NA MLH1 CHEK2 22 29107873 G/A 0 NM_001005735.1 intron_variant NM_001005735.1:c.921+24C>T NA NM_007194.3 intron_variant NM_007194.3:c.792+24C>T NA CHEK2 CDC73 1 193094368 T/T 0 NM_024529.4 intron_variant NM_024529.4:c.237+29_237+32delCTAT NA NM_024529.4 intron_variant NM_024529.4:c.237+29_237+32delCTAT NA CDC73 ALK 2 29543794 G/A 0 NM_004304.4 intron_variant NM_004304.4:c.1415-46C>T NA NM_004304.4 intron_variant NM_004304.4:c.1415-46C>T NA ALK BUB1B 15 40504872 T/G 0 NM_001211.5 intron_variant NM_001211.5:c.2535+23T>G NA NM_001211.5 intron_variant NM_001211.5:c.2535+23T>G NA BUB1B NF1 17 29687761 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.8377+40A>G NA NM_000267.3 intron_variant NM_000267.3:c.8314+40A>G NA NF1 CHEK2 22 29130009 G/GACCTT 0 NM_001005735.1 intron_variant NM_001005735.1:c.319+381_319+382insAAGGT NA NM_007194.3 intron_variant NM_007194.3:c.319+381_319+382insAAGGT NA CHEK2 CHEK2 22 29130011 G/A 0 NM_001005735.1 intron_variant NM_001005735.1:c.319+380C>T NA NM_007194.3 intron_variant NM_007194.3:c.319+380C>T NA CHEK2 CHEK2 22 29130012 T/TTTC 0 NM_001005735.1 intron_variant NM_001005735.1:c.319+378_319+379insGAA NA NM_007194.3 intron_variant NM_007194.3:c.319+378_319+379insGAA NA CHEK2 DIS3L2 2 232995439 T/G 0.18 NM_152383.4 intron_variant NM_152383.4:c.702+10T>G NA NM_152383.4 intron_variant NM_152383.4:c.702+10T>G NA DIS3L2 TP53 17 7579599 G/A 0 NM_000546.5 intron_variant NM_000546.5:c.97-9C>T NA NM_000546.5 intron_variant NM_000546.5:c.97-9C>T NA TP53 SMARCB1 22 24145459 T/G 0.98 NM_003073.3 intron_variant NM_003073.3:c.501-23T>G NA NM_003073.3 intron_variant NM_003073.3:c.501-23T>G NA SMARCB1 MSH6 2 48018314 A/A 18.55 NM_000179.2 intron_variant NM_000179.2:c.457+52T>A NA NM_000179.2 intron_variant NM_000179.2:c.457+52T>A NA MSH6 SDHB 1 17354373 G/GGAA 0 NM_003000.2 intron_variant NM_003000.2:c.424-16_424-14dupTTC NA NM_003000.2 intron_variant NM_003000.2:c.424-16_424-14dupTTC NA SDHB RET 10 43619303 G/A 0 NM_020975.4 intron_variant NM_020975.4:c.2939+47G>A NA NM_020975.4 intron_variant NM_020975.4:c.2939+47G>A NA RET ATM,C11ORF65 11 108203653 T/G 0 NM_000051.3 intron_variant NM_000051.3:c.7927+26T>G NA NM_000051.3 intron_variant NM_000051.3:c.7927+26T>G NA ATM FANCA 16 89815056 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.3348+11C>T NA NM_000135.2 intron_variant NM_000135.2:c.3348+11C>T NA FANCA FANCA 16 89849520 G/C 0 NM_000135.2 intron_variant NM_000135.2:c.1471-10C>G NA NM_000135.2 intron_variant NM_000135.2:c.1471-10C>G NA FANCA FH 1 241675239 C/CA 0 NM_000143.3 intron_variant NM_000143.3:c.555+27dupT NA NM_000143.3 intron_variant NM_000143.3:c.555+27dupT NA FH ALK 2 29432788 G/C 0 NM_004304.4 intron_variant NM_004304.4:c.3744-44C>G NA NM_004304.4 intron_variant NM_004304.4:c.3744-44C>G NA ALK MSH6 2 48033838 C/CAA 0 NM_000179.2 intron_variant NM_000179.2:c.4001+50_4001+51dupAA NA NM_000179.2 intron_variant NM_000179.2:c.4001+50_4001+51dupAA NA MSH6 PMS1 2 190708640 T/C 0.32 NM_000534.4 intron_variant NM_000534.4:c.583-50T>C NA NM_000534.4 intron_variant NM_000534.4:c.583-50T>C NA PMS1 PMS1 2 190717555 G/GT 0 NM_000534.4 intron_variant NM_000534.4:c.822+53dupT NA NM_000534.4 intron_variant NM_000534.4:c.822+53dupT NA PMS1 PMS1 2 190718845 A/G 0.32 NM_000534.4 intron_variant NM_000534.4:c.966+37A>G NA NM_000534.4 intron_variant NM_000534.4:c.966+37A>G NA PMS1 KIT 4 55597458 A/G 2.62 NM_000222.2 intron_variant NM_000222.2:c.2142-36A>G NA NM_000222.2 intron_variant NM_000222.2:c.2142-36A>G NA KIT MET 7 116381104 A/G 3.39 NM_001127500.1 intron_variant NM_001127500.1:c.1701+25A>G NA NM_000245.2 intron_variant NM_000245.2:c.1701+25A>G NA MET NBN 8 90982562 G/GT 0 NM_002485.4 intron_variant NM_002485.4:c.896+29dupA NA NM_002485.4 intron_variant NM_002485.4:c.896+29dupA NA NBN FANCC 9 97912175 G/A 0.88 NM_000136.2 intron_variant NM_000136.2:c.686+30C>T NA NM_000136.2 intron_variant NM_000136.2:c.686+30C>T NA FANCC RB1 13 48951025 A/G 2.53 NM_000321.2 intron_variant NM_000321.2:c.1216-29A>G NA NM_000321.2 intron_variant NM_000321.2:c.1216-29A>G NA RB1 RB1 13 48954178 A/G 0.36 NM_000321.2 intron_variant NM_000321.2:c.1390-11A>G NA NM_000321.2 intron_variant NM_000321.2:c.1390-11A>G NA RB1 BUB1B 15 40501993 G/G 9.28 NM_001211.5 intron_variant NM_001211.5:c.2284+17T>G NA NM_001211.5 intron_variant NM_001211.5:c.2284+17T>G NA BUB1B TSC2 16 2135074 G/A 1.92 NM_000548.3 intron_variant NM_000548.3:c.4569+47G>A NA NM_000548.3 intron_variant NM_000548.3:c.4569+47G>A NA TSC2 SLX4 16 3644431 C/T 0.76 NM_032444.2 intron_variant NM_032444.2:c.2160+23G>A NA NM_032444.2 intron_variant NM_032444.2:c.2160+23G>A NA SLX4 FLCN 17 17124975 C/T 2.29 NM_144997.5 intron_variant NM_144997.5:c.780-33G>A NA NM_144997.5 intron_variant NM_144997.5:c.780-33G>A NA FLCN BRIP1 17 59821974 A/G 0.82 NM_032043.2 intron_variant NM_032043.2:c.2098-22T>C NA NM_032043.2 intron_variant NM_032043.2:c.2098-22T>C NA BRIP1 BRIP1 17 59853967 G/T 0.68 NM_032043.2 intron_variant NM_032043.2:c.1936-44C>A NA NM_032043.2 intron_variant NM_032043.2:c.1936-44C>A NA BRIP1 BRIP1 17 59871140 C/A 0.14 NM_032043.2 intron_variant NM_032043.2:c.1341-50G>T NA NM_032043.2 intron_variant NM_032043.2:c.1341-50G>T NA BRIP1 STK11 19 1218384 C/T 4.27 NM_000455.4 intron_variant NM_000455.4:c.291-32C>T NA NM_000455.4 intron_variant NM_000455.4:c.291-32C>T NA STK11 BMPR1A 10 88672153 G/A 4.11 NM_004329.2 intron_variant NM_004329.2:c.675+12G>A NA NM_004329.2 intron_variant NM_004329.2:c.675+12G>A NA BMPR1A BRCA2 13 32900617 C/T 0.82 NM_000059.3 intron_variant NM_000059.3:c.517-19C>T NA NM_000059.3 intron_variant NM_000059.3:c.517-19C>T NA BRCA2 TSC2 16 2122822 A/G 10.94 NM_000548.3 intron_variant NM_000548.3:c.2221-28A>G NA NM_000548.3 intron_variant NM_000548.3:c.2221-28A>G NA TSC2 BRIP1 17 59937286 A/C 3.33 NM_032043.2 intron_variant NM_032043.2:c.94-18T>G NA NM_032043.2 intron_variant NM_032043.2:c.94-18T>G NA BRIP1 SMAD4 18 48591762 A/A 4.49 NM_005359.5 intron_variant NM_005359.5:c.956-31G>A NA NM_005359.5 intron_variant NM_005359.5:c.956-31G>A NA SMAD4 SDHD 11 111965497 C/C 11.34 NM_003002.3 intron_variant NM_003002.3:c.315-32T>C NA NM_003002.3 intron_variant NM_003002.3:c.315-32T>C NA SDHD CDH1 16 68842480 C/C 1.8 NM_004360.3 intron_variant NM_004360.3:c.531+10G>C NA NM_004360.3 intron_variant NM_004360.3:c.531+10G>C NA CDH1 EPCAM 2 47606895 CT/C 0 NM_002354.2 intron_variant NM_002354.2:c.658-9delT NA NM_002354.2 intron_variant NM_002354.2:c.658-9delT NA EPCAM EZH2 7 148506292 C/T 0 NM_004456.4 intron_variant NM_004456.4:c.2111-45G>A NA NM_004456.4 intron_variant NM_004456.4:c.2111-45G>A NA EZH2 PRKAR1A 17 66519971 C/A 0 NM_212471.2 intron_variant NM_212471.2:c.440+14C>A NA NM_002734.4 intron_variant NM_002734.4:c.440+14C>A NA PRKAR1A FH 1 241669252 A/G 0 NM_000143.3 intron_variant NM_000143.3:c.904+51T>C NA NM_000143.3 intron_variant NM_000143.3:c.904+51T>C NA FH WRN 8 31012117 G/A 0.02 NM_000553.4 intron_variant NM_000553.4:c.3688-23G>A NA NM_000553.4 intron_variant NM_000553.4:c.3688-23G>A NA WRN TSC2 16 2115481 T/T 3.93 NM_000548.3 intron_variant NM_000548.3:c.1600-39C>T NA NM_000548.3 intron_variant NM_000548.3:c.1600-39C>T NA TSC2 FANCI 15 89850930 T/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.3651+27T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3651+27T>C NA FANCI FANCI 15 89857804 T/C 1.46 NM_001113378.1 intron_variant NM_001113378.1:c.3721-39T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3721-39T>C NA FANCI TSC2 16 2111825 A/G 0 NM_000548.3 intron_variant NM_000548.3:c.1120-47A>G NA NM_000548.3 intron_variant NM_000548.3:c.1120-47A>G NA TSC2 BUB1B 15 40493109 A/G 0.02 NM_001211.5 intron_variant NM_001211.5:c.1518-23A>G NA NM_001211.5 intron_variant NM_001211.5:c.1518-23A>G NA BUB1B FANCA 16 89849522 T/C 0.08 NM_000135.2 intron_variant NM_000135.2:c.1471-12A>G NA NM_000135.2 intron_variant NM_000135.2:c.1471-12A>G NA FANCA NF1 17 29685660 G/A 0.7 NM_001042492.2 intron_variant NM_001042492.2:c.8113+20G>A NA NM_000267.3 intron_variant NM_000267.3:c.8050+20G>A NA NF1 DIS3L2 2 233199492 A/G 0 NM_152383.4 intron_variant NM_152383.4:c.2394+47A>G NA NM_152383.4 intron_variant NM_152383.4:c.2394+47A>G NA DIS3L2 ATM 11 108151707 TA/TTA 0 NM_000051.3 intron_variant NM_000051.3:c.3403-15_3403-14insTA NA NM_000051.3 intron_variant NM_000051.3:c.3403-13dupA NA ATM TSC2 16 2124169 G/A 0.02 NM_000548.3 intron_variant NM_000548.3:c.2356-32G>A NA NM_000548.3 intron_variant NM_000548.3:c.2356-32G>A NA TSC2 BMPR1A 10 88659758 A/A 5.95 NM_004329.2 intron_variant NM_004329.2:c.431-26T>A NA NM_004329.2 intron_variant NM_004329.2:c.431-26T>A NA BMPR1A RAD51C 17 56798091 C/G 0 NM_058216.2 intron_variant NM_058216.2:c.838-16C>G NA NM_058216.2 intron_variant NM_058216.2:c.838-16C>G NA RAD51C BIVM-ERCC5,ERCC5 13 103520424 A/G 0.1 NM_001204425.1 intron_variant NM_001204425.1:c.3896-39A>G NA NM_000123.3 intron_variant NM_000123.3:c.2534-39A>G NA ERCC5 FANCM 14 45658588 A/T 0.58 NM_020937.2 intron_variant NM_020937.2:c.5340+23A>T NA NM_020937.2 intron_variant NM_020937.2:c.5340+23A>T NA FANCM WT1 11 32438013 C/T 0 NM_024426.4 intron_variant NM_024426.4:c.1001+23G>A NA NM_024426.4 intron_variant NM_024426.4:c.1001+23G>A NA WT1 CYLD 16 50788366 G/A 1.96 NM_015247.2 intron_variant NM_015247.2:c.913+31G>A NA NM_001042412.1 intron_variant NM_001042412.1:c.913+31G>A NA CYLD MLH1 3 37089187 T/C 0 NM_000249.3 intron_variant NM_000249.3:c.1896+13T>C NA NM_000249.3 intron_variant NM_000249.3:c.1896+13T>C NA MLH1 CDC73 1 193107338 T/C 0.12 NM_024529.4 intron_variant NM_024529.4:c.512+35T>C NA NM_024529.4 intron_variant NM_024529.4:c.512+35T>C NA CDC73 FANCD2,FANCD2OS 3 10128965 CTTTT/C 0 NM_033084.3 intron_variant NM_033084.3:c.3466+36delT NA NM_033084.3 intron_variant NM_033084.3:c.3466+18_3466+19insTTT NA FANCD2 FANCA 16 89845295 GGAAA/G 0 NM_000135.2 intron_variant NM_000135.2:c.1777-41_1777-38delTTTC NA NM_000135.2 intron_variant NM_000135.2:c.1777-41_1777-38delTTTC NA FANCA FH 1 241663902 TGAGAGA/T 0 NM_000143.3 intron_variant NM_000143.3:c.1237-14_1237-13delTC NA NM_000143.3 intron_variant NM_000143.3:c.1237-13_1237-12insTCTC NA FH FANCI 15 89858637 G/A 0 NM_001113378.1 intron_variant NM_001113378.1:c.3924+17G>A NA NM_001113378.1 intron_variant NM_001113378.1:c.3924+17G>A NA FANCI BIVM-ERCC5,ERCC5 13 103504653 G/A 0 NM_001204425.1 intron_variant NM_001204425.1:c.1626+10G>A NA NM_000123.3 intron_variant NM_000123.3:c.264+10G>A NA ERCC5 EPCAM 2 47600921 G/C 0 NM_002354.2 intron_variant NM_002354.2:c.185-26G>C NA NM_002354.2 intron_variant NM_002354.2:c.185-26G>C NA EPCAM HNF1A 12 121434310 G/A 0.02 NM_000545.5 intron_variant NM_000545.5:c.1108-34G>A NA NM_000545.5 intron_variant NM_000545.5:c.1108-34G>A NA HNF1A BRCA1 17 41247973 A/G 0.06 NM_007300.3 intron_variant NM_007300.3:c.594-34T>C NA NM_007294.3 intron_variant NM_007294.3:c.594-34T>C NA BRCA1 MLH1 3 37067100 T/TA 20.81 NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insA NA NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insA NA MLH1 PTCH1 9 98218528 CAA/C 0 NM_000264.3 intron_variant NM_000264.3:c.3306+28_3306+29delTT NA NM_000264.3 intron_variant NM_000264.3:c.3306+28_3306+29delTT NA PTCH1 SMAD4 18 48584855 A/ATTT 0 NM_005359.5 intron_variant NM_005359.5:c.904+44_904+45dupTT NA NM_005359.5 intron_variant NM_005359.5:c.904+30delT NA SMAD4 BAP1 3 52443832 C/A 0 NM_004656.3 intron_variant NM_004656.3:c.37+26G>T NA NM_004656.3 intron_variant NM_004656.3:c.37+26G>T NA BAP1 MLH1 3 37067093 A/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-26delATATATTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-33_1039-26delATATATTT NA MLH1 TSC2 16 2120599 G/A 0.02 NM_000548.3 intron_variant NM_000548.3:c.1839+20G>A NA NM_000548.3 intron_variant NM_000548.3:c.1839+20G>A NA TSC2 NF1 17 29552280 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.2001+12C>T NA NM_000267.3 intron_variant NM_000267.3:c.2001+12C>T NA NF1 EPCAM 2 47613681 A/T 0 NM_002354.2 intron_variant NM_002354.2:c.904-30A>T NA NM_002354.2 intron_variant NM_002354.2:c.904-30A>T NA EPCAM DIS3L2 2 233199472 C/T 0 NM_152383.4 intron_variant NM_152383.4:c.2394+27C>T NA NM_152383.4 intron_variant NM_152383.4:c.2394+27C>T NA DIS3L2 CYLD 16 50820730 A/G 0 NM_015247.2 intron_variant NM_015247.2:c.1950-36A>G NA NM_001042412.1 intron_variant NM_001042412.1:c.1941-36A>G NA CYLD CHEK2 22 29091068 T/C 0 NM_001005735.1 intron_variant NM_001005735.1:c.1504+47A>G NA NM_007194.3 intron_variant NM_007194.3:c.1375+47A>G NA CHEK2 FANCD2 3 10116167 A/C 0 NM_033084.3 intron_variant NM_033084.3:c.2716-47A>C NA NM_033084.3 intron_variant NM_033084.3:c.2716-47A>C NA FANCD2 FANCI 15 89847054 T/C 0.76 NM_001113378.1 intron_variant NM_001113378.1:c.3007-41T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3007-41T>C NA FANCI FANCI 15 89857953 A/T 4.53 NM_001113378.1 intron_variant NM_001113378.1:c.3816+15A>T NA NM_001113378.1 intron_variant NM_001113378.1:c.3816+15A>T NA FANCI ALK 2 29456609 T/C 0 NM_004304.4 intron_variant NM_004304.4:c.2356-47A>G NA NM_004304.4 intron_variant NM_004304.4:c.2356-47A>G NA ALK EZH2 7 148508669 A/C 0 NM_004456.4 intron_variant NM_004456.4:c.1947+48T>G NA NM_004456.4 intron_variant NM_004456.4:c.1947+48T>G NA EZH2 EXT2 11 44193304 C/G 0 NM_000401.3 intron_variant NM_000401.3:c.1404+12C>G NA NM_207122.1 intron_variant NM_207122.1:c.1305+12C>G NA EXT2 VHL 3 10188363 A/G 0.48 NM_000551.3 intron_variant NM_000551.3:c.463+43A>G NA NM_000551.3 intron_variant NM_000551.3:c.463+43A>G NA VHL EGFR 7 55259594 G/A 0 NM_005228.3 intron_variant NM_005228.3:c.2625+27G>A NA NM_005228.3 intron_variant NM_005228.3:c.2625+27G>A NA EGFR BAP1 3 52440418 A/T 0.84 NM_004656.3 intron_variant NM_004656.3:c.660-26T>A NA NM_004656.3 intron_variant NM_004656.3:c.660-26T>A NA BAP1 NBN 8 90982814 G/A 0.66 NM_002485.4 intron_variant NM_002485.4:c.703-29C>T NA NM_002485.4 intron_variant NM_002485.4:c.703-29C>T NA NBN MSH2 2 47693788 T/T 4.05 NM_000251.2 intron_variant NM_000251.2:c.1511-9A>T NA NM_000251.2 intron_variant NM_000251.2:c.1511-9A>T NA MSH2 NF1 17 29587566 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.4577+33C>T NA NM_000267.3 intron_variant NM_000267.3:c.4514+33C>T NA NF1 ALK 2 29416799 G/A 0 NM_004304.4 intron_variant NM_004304.4:c.4165-11C>T NA NM_004304.4 intron_variant NM_004304.4:c.4165-11C>T NA ALK FLCN 17 17117219 G/A 0 NM_144997.5 intron_variant NM_144997.5:c.1539-49C>T NA NM_144997.5 intron_variant NM_144997.5:c.1539-49C>T NA FLCN BRIP1 17 59870931 G/A 0 NM_032043.2 intron_variant NM_032043.2:c.1473+27C>T NA NM_032043.2 intron_variant NM_032043.2:c.1473+27C>T NA BRIP1 ALK 2 29940430 A/C 0 NM_004304.4 intron_variant NM_004304.4:c.787+14T>G NA NM_004304.4 intron_variant NM_004304.4:c.787+14T>G NA ALK FLCN 17 17129682 C/A 0.02 NM_144997.5 intron_variant NM_144997.5:c.250-46G>T NA NM_144997.5 intron_variant NM_144997.5:c.250-46G>T NA FLCN NF1 17 29562804 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.3870+14A>G NA NM_000267.3 intron_variant NM_000267.3:c.3870+14A>G NA NF1 MLH1 3 37067095 ATATATT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-26delATATTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-26delATATTT NA MLH1 HRAS 11 532803 G/A 1.46 NM_005343.2 intron_variant NM_005343.2:c.451-48C>T NA NM_005343.2 intron_variant NM_005343.2:c.451-48C>T NA HRAS EGFR 7 55268864 C/T 0 NM_005228.3 intron_variant NM_005228.3:c.2947-17C>T NA NM_005228.3 intron_variant NM_005228.3:c.2947-17C>T NA EGFR FANCC 9 98002890 A/G 0.04 NM_000136.2 intron_variant NM_000136.2:c.345+41T>C NA NM_000136.2 intron_variant NM_000136.2:c.345+41T>C NA FANCC BRCA2 13 32954059 C/T 0 NM_000059.3 intron_variant NM_000059.3:c.9117+9C>T NA NM_000059.3 intron_variant NM_000059.3:c.9117+9C>T NA BRCA2 MSH6 2 48033890 CTTT/C 0 NM_000179.2 intron_variant NM_000179.2:c.4002-11_4002-10delTT NA NM_000179.2 intron_variant NM_000179.2:c.4002-26_4002-25insT NA MSH6 NF1 17 29683646 G/A 0.42 NM_001042492.2 intron_variant NM_001042492.2:c.7738+46G>A NA NM_000267.3 intron_variant NM_000267.3:c.7675+46G>A NA NF1 BMPR1A 10 88672188 T/C 0 NM_004329.2 intron_variant NM_004329.2:c.675+47T>C NA NM_004329.2 intron_variant NM_004329.2:c.675+47T>C NA BMPR1A FH 1 241663902 TGAGAGAGAGA/T 0 NM_000143.3 intron_variant NM_000143.3:c.1237-14_1237-13delTC NA NM_000143.3 intron_variant NM_000143.3:c.1237-13_1237-12insTCTCTCTC NA FH CDKN1C 11 2905204 GCC/GC 0 NM_000076.2 intron_variant NM_000076.2:c.*5+24dupG NA NM_000076.2 intron_variant NM_000076.2:c.*5+23_*5+24dupGG NA CDKN1C CDC73 1 193121485 A/G 0.1 NM_024529.4 intron_variant NM_024529.4:c.908-25A>G NA NM_024529.4 intron_variant NM_024529.4:c.908-25A>G NA CDC73 ERCC3 2 128051345 C/A 0 NM_000122.1 intron_variant NM_000122.1:c.29-51G>T NA NM_000122.1 intron_variant NM_000122.1:c.29-51G>T NA ERCC3 TSC2 16 2136922 C/CT 0 NM_000548.3 intron_variant NM_000548.3:c.4989+51dupT NA NM_000548.3 intron_variant NM_000548.3:c.4989+51dupT NA TSC2 DICER1 14 95598003 A/G 0 NM_177438.2 intron_variant NM_177438.2:c.308-27T>C NA NM_177438.2 intron_variant NM_177438.2:c.308-27T>C NA DICER1 CHEK2 22 29083986 G/A 0 NM_001005735.1 intron_variant NM_001005735.1:c.1672-12C>T NA NM_007194.3 intron_variant NM_007194.3:c.1543-12C>T NA CHEK2 SLX4 16 3647740 C/A 0.02 NM_032444.2 intron_variant NM_032444.2:c.1367-44G>T NA NM_032444.2 intron_variant NM_032444.2:c.1367-44G>T NA SLX4 CDC73 1 193091482 G/A 0 NM_024529.4 intron_variant NM_024529.4:c.131+21G>A NA NM_024529.4 intron_variant NM_024529.4:c.131+21G>A NA CDC73 FLCN 17 17119852 G/A 0 NM_144997.5 intron_variant NM_144997.5:c.1177-35C>T NA NM_144997.5 intron_variant NM_144997.5:c.1177-35C>T NA FLCN WRN 8 31030472 T/C 0.1 NM_000553.4 intron_variant NM_000553.4:c.4192-39T>C NA NM_000553.4 intron_variant NM_000553.4:c.4192-39T>C NA WRN NF1 17 29554347 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.2325+38C>T NA NM_000267.3 intron_variant NM_000267.3:c.2325+38C>T NA NF1 GPC3 X 132888222 A/C 0.11 NM_001164617.1 intron_variant NM_001164617.1:c.338-19T>G NA NM_004484.3 intron_variant NM_004484.3:c.338-19T>G NA GPC3 GPC3 X 132888222 AC/AC 0 NM_001164617.1 intron_variant NM_001164617.1:c.338-20_338-19insG NA NM_004484.3 intron_variant NM_004484.3:c.338-20_338-19insG NA GPC3 FANCE 6 35425812 C/A 0 NM_021922.2 intron_variant NM_021922.2:c.969+51C>A NA NM_021922.2 intron_variant NM_021922.2:c.969+51C>A NA FANCE TSC2 16 2138162 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.5160+22C>T NA NM_000548.3 intron_variant NM_000548.3:c.5160+22C>T NA TSC2 FANCA 16 89836223 C/T 0.02 NM_000135.2 intron_variant NM_000135.2:c.2504+22G>A NA NM_000135.2 intron_variant NM_000135.2:c.2504+22G>A NA FANCA EPCAM 2 47596763 T/TGGGCG 0 NM_002354.2 intron_variant NM_002354.2:c.76+46_76+47insCGGGG NA NM_002354.2 intron_variant NM_002354.2:c.76+46_76+47insCGGGG NA EPCAM MSH2 2 47698095 G/A 0.68 NM_000251.2 intron_variant NM_000251.2:c.1662-9G>A NA NM_000251.2 intron_variant NM_000251.2:c.1662-9G>A NA MSH2 FANCI 15 89791001 C/T 0 NM_001113378.1 intron_variant NM_001113378.1:c.84+39C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.84+39C>T NA FANCI ERCC2 19 45873359 G/A 0 NM_000400.3 intron_variant NM_000400.3:c.105+32C>T NA NM_000400.3 intron_variant NM_000400.3:c.105+32C>T NA ERCC2 SLX4 16 3645724 C/T 0.78 NM_032444.2 intron_variant NM_032444.2:c.1925-30G>A NA NM_032444.2 intron_variant NM_032444.2:c.1925-30G>A NA SLX4 ERCC4 16 14028185 T/C 0 NM_005236.2 intron_variant NM_005236.2:c.1213+26T>C NA NM_005236.2 intron_variant NM_005236.2:c.1213+26T>C NA ERCC4 NF1 17 29554356 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.2325+47A>G NA NM_000267.3 intron_variant NM_000267.3:c.2325+47A>G NA NF1 NF1 17 29554360 G/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.2325+51G>T NA NM_000267.3 intron_variant NM_000267.3:c.2325+51G>T NA NF1 MET 7 116340384 A/C 0.02 NM_001127500.1 intron_variant NM_001127500.1:c.1200+46A>C NA NM_000245.2 intron_variant NM_000245.2:c.1200+46A>C NA MET NF1 17 29683646 A/A 0.42 NM_001042492.2 intron_variant NM_001042492.2:c.7738+46G>A NA NM_000267.3 intron_variant NM_000267.3:c.7675+46G>A NA NF1 ALK 2 29450572 G/C 0.02 NM_004304.4 intron_variant NM_004304.4:c.2816-34C>G NA NM_004304.4 intron_variant NM_004304.4:c.2816-34C>G NA ALK ALK 2 29473924 T/C 0 NM_004304.4 intron_variant NM_004304.4:c.2204+47A>G NA NM_004304.4 intron_variant NM_004304.4:c.2204+47A>G NA ALK TMEM127 2 96920780 G/C 0.02 NM_017849.3 intron_variant NM_017849.3:c.245-45C>G NA NM_017849.3 intron_variant NM_017849.3:c.245-45C>G NA TMEM127 TSC2 16 2115656 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.1716+20C>T NA NM_000548.3 intron_variant NM_000548.3:c.1716+20C>T NA TSC2 BRCA1 17 41199745 A/T 0 NM_007300.3 intron_variant NM_007300.3:c.5470-25T>A NA NM_007294.3 intron_variant NM_007294.3:c.5407-25T>A NA BRCA1 TSC1 9 135777958 C/T 0.98 NM_000368.4 intron_variant NM_000368.4:c.2391+34G>A NA NM_000368.4 intron_variant NM_000368.4:c.2391+34G>A NA TSC1 TSC2 16 2122391 TG/T 0 NM_000548.3 intron_variant NM_000548.3:c.2220+32delG NA NM_000548.3 intron_variant NM_000548.3:c.2220+32delG NA TSC2 BAP1 3 52441391 T/TCAGCTCCCA 0 NM_004656.3 intron_variant NM_004656.3:c.437+15_437+23dupTGGGAGCTG NA NM_004656.3 intron_variant NM_004656.3:c.437+15_437+23dupTGGGAGCTG NA BAP1 PMS2 7 6022655 T/C 0 NM_000535.5 intron_variant NM_000535.5:c.2007-33A>G NA NM_000535.5 intron_variant NM_000535.5:c.2007-33A>G NA PMS2 RET 10 43608991 C/T 0 NM_020975.4 intron_variant NM_020975.4:c.1760-13C>T NA NM_020975.4 intron_variant NM_020975.4:c.1760-13C>T NA RET MEN1 11 64577620 C/C 17.49 NM_130803.2 intron_variant NM_130803.2:c.-23-16C>G NA NM_130799.2 intron_variant NM_130799.2:c.-23-16C>G NA MEN1 SDHB 1 17354373 GGAAGAA/G 0 NM_003000.2 intron_variant NM_003000.2:c.424-19_424-14delTTCTTC NA NM_003000.2 intron_variant NM_003000.2:c.424-19_424-14delTTCTTC NA SDHB FANCD2,FANCD2OS 3 10137969 G/T 0 NM_033084.3 intron_variant NM_033084.3:c.4039-41G>T NA NM_033084.3 intron_variant NM_033084.3:c.4039-41G>T NA FANCD2 MLH1 3 37067097 ATATTT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-29_1039-25delATTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-29_1039-25delATTTT NA MLH1 FANCB X 14868839 G/A 0.42 NM_152633.2 intron_variant NM_152633.2:c.1327-43C>T NA NM_152633.2 intron_variant NM_152633.2:c.1327-43C>T NA FANCB FANCD2 3 10107690 C/T 0 NM_033084.3 intron_variant NM_033084.3:c.2385+27C>T NA NM_033084.3 intron_variant NM_033084.3:c.2385+27C>T NA FANCD2 ERCC2 19 45860811 G/A 0.02 NM_000400.3 intron_variant NM_000400.3:c.1308-10C>T NA NM_000400.3 intron_variant NM_000400.3:c.1308-10C>T NA ERCC2 FANCI 15 89807888 T/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.755+50T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.755+50T>C NA FANCI KIT 4 55597987 C/T 0.44 NM_000222.2 intron_variant NM_000222.2:c.2234-50C>T NA NM_000222.2 intron_variant NM_000222.2:c.2234-50C>T NA KIT NF1 17 29483195 G/C 0.24 NM_001042492.2 intron_variant NM_001042492.2:c.204+51G>C NA NM_000267.3 intron_variant NM_000267.3:c.204+51G>C NA NF1 NF1 17 29554492 T/G 0.02 NM_001042492.2 intron_variant NM_001042492.2:c.2326-49T>G NA NM_000267.3 intron_variant NM_000267.3:c.2326-49T>G NA NF1 ERCC3 2 128018944 G/A 0 NM_000122.1 intron_variant NM_000122.1:c.1946-22C>T NA NM_000122.1 intron_variant NM_000122.1:c.1946-22C>T NA ERCC3 APC 5 112151309 C/T 0 NM_000038.5 intron_variant NM_000038.5:c.933+19C>T NA NM_000038.5 intron_variant NM_000038.5:c.933+19C>T NA APC SMARCB1 22 24143298 G/A 0 NM_003073.3 intron_variant NM_003073.3:c.500+30G>A NA NM_003073.3 intron_variant NM_003073.3:c.500+30G>A NA SMARCB1 WRN 8 31004658 A/G 0 NM_000553.4 intron_variant NM_000553.4:c.3459+14A>G NA NM_000553.4 intron_variant NM_000553.4:c.3459+14A>G NA WRN TP53 17 7573897 A/A 0.32 NM_000546.5 intron_variant NM_000546.5:c.1100+30A>T NA NM_000546.5 intron_variant NM_000546.5:c.1100+30A>T NA TP53 STK11 19 1221161 T/T 10.1 NM_000455.4 intron_variant NM_000455.4:c.735-51C>T NA NM_000455.4 intron_variant NM_000455.4:c.735-51C>T NA STK11 MLH1 3 37059129 G/A 0 NM_000249.3 intron_variant NM_000249.3:c.884+39G>A NA NM_000249.3 intron_variant NM_000249.3:c.884+39G>A NA MLH1 PTCH1 9 98224095 C/A 0 NM_000264.3 intron_variant NM_000264.3:c.2703+43G>T NA NM_000264.3 intron_variant NM_000264.3:c.2703+43G>T NA PTCH1 RET 10 43604725 G/C 0 NM_020975.4 intron_variant NM_020975.4:c.1263+47G>C NA NM_020975.4 intron_variant NM_020975.4:c.1263+47G>C NA RET HNF1A 12 121426615 C/A 0 NM_000545.5 intron_variant NM_000545.5:c.327-21C>A NA NM_000545.5 intron_variant NM_000545.5:c.327-21C>A NA HNF1A HNF1A 12 121434308 C/T 0 NM_000545.5 intron_variant NM_000545.5:c.1108-36C>T NA NM_000545.5 intron_variant NM_000545.5:c.1108-36C>T NA HNF1A CDH1 16 68857273 T/C 0 NM_004360.3 intron_variant NM_004360.3:c.1937-29T>C NA NM_004360.3 intron_variant NM_004360.3:c.1937-29T>C NA CDH1 MLH1 3 37061762 A/G 0 NM_000249.3 intron_variant NM_000249.3:c.885-39A>G NA NM_000249.3 intron_variant NM_000249.3:c.885-39A>G NA MLH1 BIVM-ERCC5,ERCC5 13 103504688 T/C 0 NM_001204425.1 intron_variant NM_001204425.1:c.1626+45T>C NA NM_000123.3 intron_variant NM_000123.3:c.264+45T>C NA ERCC5 MLH1 3 37067095 A/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-25delATATTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-25delATATTTT NA MLH1 WRN 8 31007825 T/TTTG 0 NM_000553.4 intron_variant NM_000553.4:c.3573-11_3573-9dupGTT NA NM_000553.4 intron_variant NM_000553.4:c.3573-11_3573-9dupGTT NA WRN ATM 11 108178576 T/C 0 NM_000051.3 intron_variant NM_000051.3:c.5675-48T>C NA NM_000051.3 intron_variant NM_000051.3:c.5675-48T>C NA ATM NF1 17 29508420 A/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.587-20A>T NA NM_000267.3 intron_variant NM_000267.3:c.587-20A>T NA NF1 RB1 13 49047453 A/G 0 NM_000321.2 intron_variant NM_000321.2:c.2490-43A>G NA NM_000321.2 intron_variant NM_000321.2:c.2490-43A>G NA RB1 NF1 17 29684268 C/T 0.02 NM_001042492.2 intron_variant NM_001042492.2:c.7870-19C>T NA NM_000267.3 intron_variant NM_000267.3:c.7807-19C>T NA NF1 AIP 11 67257722 G/C 0 NM_003977.2 intron_variant NM_003977.2:c.645+37G>C NA NM_003977.2 intron_variant NM_003977.2:c.645+37G>C NA AIP FANCM 14 45623852 A/G 0 NM_020937.2 intron_variant NM_020937.2:c.1184-48A>G NA NM_020937.2 intron_variant NM_020937.2:c.1184-48A>G NA FANCM CYLD 16 50813997 A/A 7.89 NM_015247.2 intron_variant NM_015247.2:c.1518+42G>A NA NM_001042412.1 intron_variant NM_001042412.1:c.1509+42G>A NA CYLD CYLD 16 50826462 T/T 13.36 NM_015247.2 intron_variant NM_015247.2:c.2242-46G>T NA NM_001042412.1 intron_variant NM_001042412.1:c.2233-46G>T NA CYLD KIT 4 55569881 A/G 0 NM_000222.2 intron_variant NM_000222.2:c.757-9A>G NA NM_000222.2 intron_variant NM_000222.2:c.757-9A>G NA KIT EZH2 7 148515256 T/C 0.12 NM_004456.4 intron_variant NM_004456.4:c.1000-47A>G NA NM_004456.4 intron_variant NM_004456.4:c.1000-47A>G NA EZH2 FANCD2 3 10105445 A/G 0 NM_033084.3 intron_variant NM_033084.3:c.1828-31A>G NA NM_033084.3 intron_variant NM_033084.3:c.1828-31A>G NA FANCD2 BAP1 3 52443558 A/G 0 NM_004656.3 intron_variant NM_004656.3:c.122+12T>C NA NM_004656.3 intron_variant NM_004656.3:c.122+12T>C NA BAP1 CHEK2 22 29106058 C/G 0.04 NM_001005735.1 intron_variant NM_001005735.1:c.922-11G>C NA NM_007194.3 intron_variant NM_007194.3:c.793-11G>C NA CHEK2 PALB2 16 23634273 A/G 0.12 NM_024675.3 intron_variant NM_024675.3:c.2996+17T>C NA NM_024675.3 intron_variant NM_024675.3:c.2996+17T>C NA PALB2 FANCE 6 35426041 G/A 0.66 NM_021922.2 intron_variant NM_021922.2:c.970-33G>A NA NM_021922.2 intron_variant NM_021922.2:c.970-33G>A NA FANCE TSC2 16 2112941 C/G 0.2 NM_000548.3 intron_variant NM_000548.3:c.1362-32C>G NA NM_000548.3 intron_variant NM_000548.3:c.1362-32C>G NA TSC2 SUFU 10 104359350 C/C 24.8 NM_016169.3 intron_variant NM_016169.3:c.1022+49T>C NA NM_016169.3 intron_variant NM_016169.3:c.1022+49T>C NA SUFU XPA 9 100451934 AAATG/A 0 NM_000380.3 intron_variant NM_000380.3:c.284-17_284-14delCATT NA NM_000380.3 intron_variant NM_000380.3:c.284-17_284-14delCATT NA XPA PTCH1 9 98220619 G/A 0.04 NM_000264.3 intron_variant NM_000264.3:c.2888-44C>T NA NM_000264.3 intron_variant NM_000264.3:c.2888-44C>T NA PTCH1 CYLD 16 50828088 C/T 0.2 NM_015247.2 intron_variant NM_015247.2:c.2470-35C>T NA NM_001042412.1 intron_variant NM_001042412.1:c.2461-35C>T NA CYLD BLM 15 91352354 T/G 0 NM_000057.2 intron_variant NM_000057.2:c.3752-13T>G NA NM_000057.2 intron_variant NM_000057.2:c.3752-13T>G NA BLM SMARCB1 22 24145622 C/T 0.06 NM_003073.3 intron_variant NM_003073.3:c.628+13C>T NA NM_003073.3 intron_variant NM_003073.3:c.628+13C>T NA SMARCB1 EGFR 7 55223682 G/A 0 NM_005228.3 intron_variant NM_005228.3:c.1006+43G>A NA NM_005228.3 intron_variant NM_005228.3:c.1006+43G>A NA EGFR EXT2 11 44146294 C/T 0.32 NM_000401.3 intron_variant NM_000401.3:c.843-45C>T NA NM_207122.1 intron_variant NM_207122.1:c.744-45C>T NA EXT2 NF1 17 29684427 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.7970+40G>A NA NM_000267.3 intron_variant NM_000267.3:c.7907+40G>A NA NF1 TSC2 16 2125788 T/T 20.55 NM_000548.3 intron_variant NM_000548.3:c.2546-12C>T NA NM_000548.3 intron_variant NM_000548.3:c.2546-12C>T NA TSC2 PRKAR1A 17 66524971 C/T 0 NM_212471.2 intron_variant NM_212471.2:c.770-40C>T NA NM_002734.4 intron_variant NM_002734.4:c.770-40C>T NA PRKAR1A TSC2 16 2133670 C/G 0 NM_000548.3 intron_variant NM_000548.3:c.3884-26C>G NA NM_000548.3 intron_variant NM_000548.3:c.3884-26C>G NA TSC2 FANCA 16 89866075 T/G 0.02 NM_000135.2 intron_variant NM_000135.2:c.793-29A>C NA NM_000135.2 intron_variant NM_000135.2:c.793-29A>C NA FANCA MSH6 2 48018275 A/G 0.38 NM_000179.2 intron_variant NM_000179.2:c.457+13A>G NA NM_000179.2 intron_variant NM_000179.2:c.457+13A>G NA MSH6 BIVM-ERCC5,ERCC5 13 103518949 C/T 0.04 NM_001204425.1 intron_variant NM_001204425.1:c.3682-33C>T NA NM_000123.3 intron_variant NM_000123.3:c.2320-33C>T NA ERCC5 PTCH1 9 98229356 C/T 0.12 NM_000264.3 intron_variant NM_000264.3:c.2560+42G>A NA NM_000264.3 intron_variant NM_000264.3:c.2560+42G>A NA PTCH1 SDHB 1 17349274 C/T 0 NM_003000.2 intron_variant NM_003000.2:c.643-49G>A NA NM_003000.2 intron_variant NM_003000.2:c.643-49G>A NA SDHB PHOX2B 4 41749605 C/A 0 NM_003924.3 intron_variant NM_003924.3:c.242-52G>T NA NM_003924.3 intron_variant NM_003924.3:c.242-52G>T NA PHOX2B BMPR1A 10 88652015 A/G 0 NM_004329.2 intron_variant NM_004329.2:c.333+29A>G NA NM_004329.2 intron_variant NM_004329.2:c.333+29A>G NA BMPR1A BIVM-ERCC5,ERCC5 13 103518284 C/T 0 NM_001204425.1 intron_variant NM_001204425.1:c.3561+23C>T NA NM_000123.3 intron_variant NM_000123.3:c.2199+23C>T NA ERCC5 XPC 3 14208647 C/T 0.68 NM_004628.4 intron_variant NM_004628.4:c.621+22G>A NA NM_004628.4 intron_variant NM_004628.4:c.621+22G>A NA XPC PTCH1 9 98238278 G/A 0 NM_000264.3 intron_variant NM_000264.3:c.1728+38C>T NA NM_000264.3 intron_variant NM_000264.3:c.1728+38C>T NA PTCH1 FANCA 16 89813315 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.3349-17C>T NA NM_000135.2 intron_variant NM_000135.2:c.3349-17C>T NA FANCA FANCA 16 89858967 G/T 0 NM_000135.2 intron_variant NM_000135.2:c.1007-12C>A NA NM_000135.2 intron_variant NM_000135.2:c.1007-12C>A NA FANCA RHBDF2 17 74477653 G/A 1.46 NM_024599.5 intron_variant NM_024599.5:c.-21-26C>T NA NM_001005498.3 intron_variant NM_001005498.3:c.-21-26C>T NA RHBDF2 MSH6 2 48010648 T/G 0 NM_000179.2 intron_variant NM_000179.2:c.260+16T>G NA NM_000179.2 intron_variant NM_000179.2:c.260+16T>G NA MSH6 WRN 8 30954265 C/T 0 NM_000553.4 intron_variant NM_000553.4:c.1899-19C>T NA NM_000553.4 intron_variant NM_000553.4:c.1899-19C>T NA WRN ERCC3 2 128037999 C/T 0.12 NM_000122.1 intron_variant NM_000122.1:c.1527+24G>A NA NM_000122.1 intron_variant NM_000122.1:c.1527+24G>A NA ERCC3 CEP57 11 95555618 A/G 0 NM_014679.4 intron_variant NM_014679.4:c.808-45A>G NA NM_014679.4 intron_variant NM_014679.4:c.808-45A>G NA CEP57 EGFR,EGFR-AS1 7 55249190 T/C 0.02 NM_005228.3 intron_variant NM_005228.3:c.2469+19T>C NA NM_005228.3 intron_variant NM_005228.3:c.2469+19T>C NA EGFR NSD1 5 176707544 A/A 5.15 NM_022455.4 intron_variant NM_022455.4:c.5623-22G>A NA NM_022455.4 intron_variant NM_022455.4:c.5623-22G>A NA NSD1 NBN 8 90990595 C/A 0 NM_002485.4 intron_variant NM_002485.4:c.481-44G>T NA NM_002485.4 intron_variant NM_002485.4:c.481-44G>T NA NBN PTEN 10 89711855 C/CT 0 NM_000314.4 intron_variant NM_000314.4:c.493-12dupT NA NM_000314.4 intron_variant NM_000314.4:c.493-12dupT NA PTEN APC 5 112111302 C/CT 0 NM_000038.5 intron_variant NM_000038.5:c.423-17dupT NA NM_000038.5 intron_variant NM_000038.5:c.423-17dupT NA APC NF2 22 30064450 G/A 0.04 NM_000268.3 intron_variant NM_000268.3:c.999+15G>A NA NM_000268.3 intron_variant NM_000268.3:c.999+15G>A NA NF2 NSD1 5 176636586 C/G 0 NM_022455.4 intron_variant NM_022455.4:c.1237-51C>G NA NM_022455.4 intron_variant NM_022455.4:c.1237-51C>G NA NSD1 TSC2 16 2137951 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.5068+9G>A NA NM_000548.3 intron_variant NM_000548.3:c.5068+9G>A NA TSC2 MET 7 116403083 G/C 0.04 NM_001127500.1 intron_variant NM_001127500.1:c.2419-21G>C NA NM_000245.2 intron_variant NM_000245.2:c.2365-21G>C NA MET DICER1 14 95571981 A/T 0 NM_177438.2 intron_variant NM_177438.2:c.3093+34T>A NA NM_177438.2 intron_variant NM_177438.2:c.3093+34T>A NA DICER1 NF1 17 29683645 A/AACT 0.42 NM_001042492.2 intron_variant NM_001042492.2:c.7738+45_7738+46insACT NA NM_000267.3 intron_variant NM_000267.3:c.7675+45_7675+46insACT NA NF1 MSH6 2 48010642 T/G 0 NM_000179.2 intron_variant NM_000179.2:c.260+10T>G NA NM_000179.2 intron_variant NM_000179.2:c.260+10T>G NA MSH6 ATM,C11ORF65 11 108201192 CTT/C 0 NM_000051.3 intron_variant NM_000051.3:c.7515+45_7515+46delTT NA NM_000051.3 intron_variant NM_000051.3:c.7515+45_7515+46delTT NA ATM RUNX1 21 36259430 A/G 0 NM_001754.4 intron_variant NM_001754.4:c.98-37T>C NA NM_001754.4 intron_variant NM_001754.4:c.98-37T>C NA RUNX1 MSH6 2 48010654 C/G 6.89 NM_000179.2 intron_variant NM_000179.2:c.260+22C>G NA NM_000179.2 intron_variant NM_000179.2:c.260+22C>G NA MSH6 RB1 13 48954153 C/A 0 NM_000321.2 intron_variant NM_000321.2:c.1390-36C>A NA NM_000321.2 intron_variant NM_000321.2:c.1390-36C>A NA RB1 DICER1 14 95563086 T/C 0 NM_177438.2 intron_variant NM_177438.2:c.4207-36A>G NA NM_177438.2 intron_variant NM_177438.2:c.4207-36A>G NA DICER1 FANCI 15 89804084 C/T 0 NM_001113378.1 intron_variant NM_001113378.1:c.288+10C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.288+10C>T NA FANCI SMARCB1 22 24167363 T/C 0 NM_003073.3 intron_variant NM_003073.3:c.796-49T>C NA NM_003073.3 intron_variant NM_003073.3:c.796-49T>C NA SMARCB1 MSH6 2 48010654 G/G 6.89 NM_000179.2 intron_variant NM_000179.2:c.260+22C>G NA NM_000179.2 intron_variant NM_000179.2:c.260+22C>G NA MSH6 FANCD2 3 10105439 A/C 0 NM_033084.3 intron_variant NM_033084.3:c.1828-37A>C NA NM_033084.3 intron_variant NM_033084.3:c.1828-37A>C NA FANCD2 KIT 4 55524280 C/T 0 NM_000222.2 intron_variant NM_000222.2:c.67+32C>T NA NM_000222.2 intron_variant NM_000222.2:c.67+32C>T NA KIT BRIP1 17 59938770 A/G 0 NM_032043.2 intron_variant NM_032043.2:c.93+38T>C NA NM_032043.2 intron_variant NM_032043.2:c.93+38T>C NA BRIP1 CYLD 16 50784159 G/A 0 NM_015247.2 intron_variant NM_015247.2:c.504+46G>A NA NM_001042412.1 intron_variant NM_001042412.1:c.504+46G>A NA CYLD NF1 17 29550630 G/T 0.3 NM_001042492.2 intron_variant NM_001042492.2:c.1845+45G>T NA NM_000267.3 intron_variant NM_000267.3:c.1845+45G>T NA NF1 WT1 11 32414203 C/T 0 NM_024426.4 intron_variant NM_024426.4:c.1339+9G>A NA NM_024426.4 intron_variant NM_024426.4:c.1339+9G>A NA WT1 EPCAM 2 47613699 C/C 2.6 NM_002354.2 intron_variant NM_002354.2:c.904-12T>C NA NM_002354.2 intron_variant NM_002354.2:c.904-12T>C NA EPCAM PRKAR1A 17 66519085 A/G 0 NM_212471.2 intron_variant NM_212471.2:c.348+18A>G NA NM_002734.4 intron_variant NM_002734.4:c.348+18A>G NA PRKAR1A BUB1B 15 40494700 T/A 0 NM_001211.5 intron_variant NM_001211.5:c.1628+34T>A NA NM_001211.5 intron_variant NM_001211.5:c.1628+34T>A NA BUB1B CDH1 16 68863710 C/T 0 NM_004360.3 intron_variant NM_004360.3:c.2439+10C>T NA NM_004360.3 intron_variant NM_004360.3:c.2439+10C>T NA CDH1 SDHB 1 17355257 T/C 0 NM_003000.2 intron_variant NM_003000.2:c.287-26A>G NA NM_003000.2 intron_variant NM_003000.2:c.287-26A>G NA SDHB FANCC 9 97887344 AG/A 0 NM_000136.2 intron_variant NM_000136.2:c.996+23delC NA NM_000136.2 intron_variant NM_000136.2:c.996+23delC NA FANCC BMPR1A 10 88678886 A/G 0 NM_004329.2 intron_variant NM_004329.2:c.869-43A>G NA NM_004329.2 intron_variant NM_004329.2:c.869-43A>G NA BMPR1A TSC2 16 2124416 G/A 0.04 NM_000548.3 intron_variant NM_000548.3:c.2545+26G>A NA NM_000548.3 intron_variant NM_000548.3:c.2545+26G>A NA TSC2 CHEK2 22 29121207 A/A 0.06 NM_001005735.1 intron_variant NM_001005735.1:c.573+24C>T NA NM_007194.3 intron_variant NM_007194.3:c.444+24C>T NA CHEK2 XPC 3 14193816 A/AC 0 NM_004628.4 intron_variant NM_004628.4:c.2115+18dupG NA NM_004628.4 intron_variant NM_004628.4:c.2115+18dupG NA XPC NBN 8 90996723 T/C 0.9 NM_002485.4 intron_variant NM_002485.4:c.37+30A>G NA NM_002485.4 intron_variant NM_002485.4:c.37+30A>G NA NBN CDH1 16 68863752 A/A 1.94 NM_004360.3 intron_variant NM_004360.3:c.2439+52G>A NA NM_004360.3 intron_variant NM_004360.3:c.2439+52G>A NA CDH1 MET 7 116419023 G/T 0.06 NM_001127500.1 intron_variant NM_001127500.1:c.3576+12G>T NA NM_000245.2 intron_variant NM_000245.2:c.3522+12G>T NA MET FANCA 16 89882442 G/C 0.06 NM_000135.2 intron_variant NM_000135.2:c.80-48C>G NA NM_000135.2 intron_variant NM_000135.2:c.80-48C>G NA FANCA NF2 22 30050619 C/T 0 NM_000268.3 intron_variant NM_000268.3:c.448-27C>T NA NM_000268.3 intron_variant NM_000268.3:c.448-27C>T NA NF2 CDC73 1 193181655 T/C 0 NM_024529.4 intron_variant NM_024529.4:c.1154+48T>C NA NM_024529.4 intron_variant NM_024529.4:c.1154+48T>C NA CDC73 RET 10 43611994 T/C 0 NM_020975.4 intron_variant NM_020975.4:c.2137-38T>C NA NM_020975.4 intron_variant NM_020975.4:c.2137-38T>C NA RET NF1 17 29665172 C/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.6819+15C>G NA NM_000267.3 intron_variant NM_000267.3:c.6756+15C>G NA NF1 PMS2 7 6043299 G/A 0 NM_000535.5 intron_variant NM_000535.5:c.353+22C>T NA NM_000535.5 intron_variant NM_000535.5:c.353+22C>T NA PMS2 FANCA 16 89836447 A/G 0 NM_000135.2 intron_variant NM_000135.2:c.2317-15T>C NA NM_000135.2 intron_variant NM_000135.2:c.2317-15T>C NA FANCA NF1 17 29557990 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.3197+47G>A NA NM_000267.3 intron_variant NM_000267.3:c.3197+47G>A NA NF1 APC 5 112116632 T/T 5.47 NM_000038.5 intron_variant NM_000038.5:c.645+32C>T NA NM_000038.5 intron_variant NM_000038.5:c.645+32C>T NA APC PTCH1 9 98244522 TG/T 0 NM_000264.3 intron_variant NM_000264.3:c.585-38delC NA NM_000264.3 intron_variant NM_000264.3:c.585-38delC NA PTCH1 CDH1 16 68849383 GTTTTGT/G 0 NM_004360.3 intron_variant NM_004360.3:c.1321-30_1321-25delGTTTTT NA NM_004360.3 intron_variant NM_004360.3:c.1321-30_1321-25delGTTTTT NA CDH1 FLCN 17 17124815 T/T 9.96 NM_144997.5 intron_variant NM_144997.5:c.871+36G>A NA NM_144997.5 intron_variant NM_144997.5:c.871+36G>A NA FLCN FANCA 16 89845458 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.1716-47C>T NA NM_000135.2 intron_variant NM_000135.2:c.1716-47C>T NA FANCA EGFR 7 55238941 A/A 0.38 NM_005228.3 intron_variant NM_005228.3:c.1919+35G>A NA NM_005228.3 intron_variant NM_005228.3:c.1919+35G>A NA EGFR FANCA 16 89813319 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.3349-21C>T NA NM_000135.2 intron_variant NM_000135.2:c.3349-21C>T NA FANCA RUNX1 21 36231724 G/A 0 NM_001754.4 intron_variant NM_001754.4:c.613+47C>T NA NM_001754.4 intron_variant NM_001754.4:c.613+47C>T NA RUNX1 DICER1 14 95581961 A/A 2.87 NM_177438.2 intron_variant NM_177438.2:c.1907+43C>T NA NM_177438.2 intron_variant NM_177438.2:c.1907+43C>T NA DICER1 ERCC4 16 14038555 G/T 0 NM_005236.2 intron_variant NM_005236.2:c.1905-25G>T NA NM_005236.2 intron_variant NM_005236.2:c.1905-25G>T NA ERCC4 NBN 8 90983350 T/A 0 NM_002485.4 intron_variant NM_002485.4:c.702+51A>T NA NM_002485.4 intron_variant NM_002485.4:c.702+51A>T NA NBN FANCI 15 89801904 C/G 0 NM_001113378.1 intron_variant NM_001113378.1:c.85-31C>G NA NM_001113378.1 intron_variant NM_001113378.1:c.85-31C>G NA FANCI FANCI 15 89802032 G/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.157+25G>C NA NM_001113378.1 intron_variant NM_001113378.1:c.157+25G>C NA FANCI BRCA1 17 41256111 A/G 0 NM_007300.3 intron_variant NM_007300.3:c.441+28T>C NA NM_007294.3 intron_variant NM_007294.3:c.441+28T>C NA BRCA1 DIS3L2 2 232879736 A/T 0.12 NM_152383.4 intron_variant NM_152383.4:c.52+47A>T NA NM_152383.4 intron_variant NM_152383.4:c.52+47A>T NA DIS3L2 DIS3L2 2 232995468 T/G 0.12 NM_152383.4 intron_variant NM_152383.4:c.702+39T>G NA NM_152383.4 intron_variant NM_152383.4:c.702+39T>G NA DIS3L2 NSD1 5 176718935 G/A 0 NM_022455.4 intron_variant NM_022455.4:c.6259-20G>A NA NM_022455.4 intron_variant NM_022455.4:c.6259-20G>A NA NSD1 CEP57 11 95555158 C/A 0 NM_014679.4 intron_variant NM_014679.4:c.807+16C>A NA NM_014679.4 intron_variant NM_014679.4:c.807+16C>A NA CEP57 NF1 17 29559061 ATTT/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.3198-5_3198-4delTT NA NM_000267.3 intron_variant NM_000267.3:c.3198-28_3198-27insT NA NF1 NF1 17 29559061 A/ATTT 0 NM_001042492.2 intron_variant NM_001042492.2:c.3198-4dupT NA NM_000267.3 intron_variant NM_000267.3:c.3198-29delT NA NF1 SLX4 16 3642909 T/G 0 NM_032444.2 intron_variant NM_032444.2:c.2161-43A>C NA NM_032444.2 intron_variant NM_032444.2:c.2161-43A>C NA SLX4 EXT1 8 118834664 AG/A 0 NM_000127.2 intron_variant NM_000127.2:c.1417+39delC NA NM_000127.2 intron_variant NM_000127.2:c.1417+39delC NA EXT1 ATM 11 108128347 CT/C 0.02 NM_000051.3 intron_variant NM_000051.3:c.2376+16delT NA NM_000051.3 intron_variant NM_000051.3:c.2376+16delT NA ATM BRCA1 17 41251777 AC/A 0 NM_007300.3 intron_variant NM_007300.3:c.547+14delG NA NM_007294.3 intron_variant NM_007294.3:c.547+14delG NA BRCA1 MSH2 2 47707804 G/C 0 NM_000251.2 intron_variant NM_000251.2:c.2459-31G>C NA NM_000251.2 intron_variant NM_000251.2:c.2459-31G>C NA MSH2 FANCM 14 45639976 CT/C 0 NM_020937.2 intron_variant NM_020937.2:c.2160+31delT NA NM_020937.2 intron_variant NM_020937.2:c.2160+31delT NA FANCM FANCE 6 35425649 C/T 0 NM_021922.2 intron_variant NM_021922.2:c.901-44C>T NA NM_021922.2 intron_variant NM_021922.2:c.901-44C>T NA FANCE FANCI 15 89847181 T/C 0.48 NM_001113378.1 intron_variant NM_001113378.1:c.3058+35T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3058+35T>C NA FANCI MSH6 2 48033546 CT/CT 0 NM_000179.2 intron_variant NM_000179.2:c.3802-43dupT NA NM_000179.2 intron_variant NM_000179.2:c.3802-43dupT NA MSH6 MSH2 2 47639519 C/T 0 NM_000251.2 intron_variant NM_000251.2:c.646-34C>T NA NM_000251.2 intron_variant NM_000251.2:c.646-34C>T NA MSH2 CYLD 16 50821814 T/C 0.32 NM_015247.2 intron_variant NM_015247.2:c.2108+51T>C NA NM_001042412.1 intron_variant NM_001042412.1:c.2099+51T>C NA CYLD TSC2 16 2105551 A/G 0 NM_000548.3 intron_variant NM_000548.3:c.599+31A>G NA NM_000548.3 intron_variant NM_000548.3:c.599+31A>G NA TSC2 FANCM 14 45652935 A/G 0.06 NM_020937.2 intron_variant NM_020937.2:c.4387-42A>G NA NM_020937.2 intron_variant NM_020937.2:c.4387-42A>G NA FANCM ALK 2 29450402 C/G 0 NM_004304.4 intron_variant NM_004304.4:c.2914+38G>C NA NM_004304.4 intron_variant NM_004304.4:c.2914+38G>C NA ALK DIS3L2 2 233195359 C/T 0 NM_152383.4 intron_variant NM_152383.4:c.1924-41C>T NA NM_152383.4 intron_variant NM_152383.4:c.1924-41C>T NA DIS3L2 ATM 11 108164245 CAT/C 0 NM_000051.3 intron_variant NM_000051.3:c.4776+43_4776+44delTA NA NM_000051.3 intron_variant NM_000051.3:c.4776+43_4776+44delTA NA ATM NBN 8 90982554 T/C 0 NM_002485.4 intron_variant NM_002485.4:c.896+38A>G NA NM_002485.4 intron_variant NM_002485.4:c.896+38A>G NA NBN NF1 17 29587341 C/C 2.71 NM_001042492.2 intron_variant NM_001042492.2:c.4431-46G>C NA NM_000267.3 intron_variant NM_000267.3:c.4368-46G>C NA NF1 PTEN 10 89720633 CTT/C 0 NM_000314.4 intron_variant NM_000314.4:c.802-3delT NA NM_000314.4 intron_variant NM_000314.4:c.802-17dupT NA PTEN FANCI 15 89816711 A/T 0 NM_001113378.1 intron_variant NM_001113378.1:c.975+11A>T NA NM_001113378.1 intron_variant NM_001113378.1:c.975+11A>T NA FANCI FANCD2 3 10083289 T/G 0.02 NM_033084.3 intron_variant NM_033084.3:c.696-18T>G NA NM_033084.3 intron_variant NM_033084.3:c.696-18T>G NA FANCD2 ERCC3 2 128018943 C/T 0.9 NM_000122.1 intron_variant NM_000122.1:c.1946-21G>A NA NM_000122.1 intron_variant NM_000122.1:c.1946-21G>A NA ERCC3 SUFU 10 104309710 C/A 0 NM_016169.3 intron_variant NM_016169.3:c.318-17C>A NA NM_016169.3 intron_variant NM_016169.3:c.318-17C>A NA SUFU DIS3L2 2 233199246 A/A 12.36 NM_152383.4 intron_variant NM_152383.4:c.2289+37G>A NA NM_152383.4 intron_variant NM_152383.4:c.2289+37G>A NA DIS3L2 TSC2 16 2103320 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.226-23G>A NA NM_000548.3 intron_variant NM_000548.3:c.226-23G>A NA TSC2 TSC2 16 2137984 C/T 0.02 NM_000548.3 intron_variant NM_000548.3:c.5068+42C>T NA NM_000548.3 intron_variant NM_000548.3:c.5068+42C>T NA TSC2 MLH1 3 37048441 A/G 2.12 NM_000249.3 intron_variant NM_000249.3:c.381-41A>G NA NM_000249.3 intron_variant NM_000249.3:c.381-41A>G NA MLH1 WRN 8 30949465 A/G 0 NM_000553.4 intron_variant NM_000553.4:c.1898+51A>G NA NM_000553.4 intron_variant NM_000553.4:c.1898+51A>G NA WRN NF1 17 29683945 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.7739-33G>A NA NM_000267.3 intron_variant NM_000267.3:c.7676-33G>A NA NF1 KIT 4 55598198 T/C 0 NM_000222.2 intron_variant NM_000222.2:c.2361+34T>C NA NM_000222.2 intron_variant NM_000222.2:c.2361+34T>C NA KIT ATM 11 108106579 T/C 0 NM_000051.3 intron_variant NM_000051.3:c.496+18T>C NA NM_000051.3 intron_variant NM_000051.3:c.496+18T>C NA ATM CDH1 16 68842283 G/A 0.1 NM_004360.3 intron_variant NM_004360.3:c.388-44G>A NA NM_004360.3 intron_variant NM_004360.3:c.388-44G>A NA CDH1 FLCN 17 17129472 T/C 0 NM_144997.5 intron_variant NM_144997.5:c.396+18A>G NA NM_144997.5 intron_variant NM_144997.5:c.396+18A>G NA FLCN TSC2 16 2138023 C/G 0 NM_000548.3 intron_variant NM_000548.3:c.5069-26C>G NA NM_000548.3 intron_variant NM_000548.3:c.5069-26C>G NA TSC2 NBN 8 90996743 C/G 0 NM_002485.4 intron_variant NM_002485.4:c.37+10G>C NA NM_002485.4 intron_variant NM_002485.4:c.37+10G>C NA NBN BUB1B 15 40462228 A/G 5.09 NM_001211.5 intron_variant NM_001211.5:c.180-35A>G NA NM_001211.5 intron_variant NM_001211.5:c.180-35A>G NA BUB1B WRN 8 30954377 A/G 0.02 NM_000553.4 intron_variant NM_000553.4:c.1981+11A>G NA NM_000553.4 intron_variant NM_000553.4:c.1981+11A>G NA WRN ATM 11 108178589 G/A 0 NM_000051.3 intron_variant NM_000051.3:c.5675-35G>A NA NM_000051.3 intron_variant NM_000051.3:c.5675-35G>A NA ATM ATM 11 108178590 C/A 0 NM_000051.3 intron_variant NM_000051.3:c.5675-34C>A NA NM_000051.3 intron_variant NM_000051.3:c.5675-34C>A NA ATM ATM 11 108151707 TN/TN 0 NM_000051.3 intron_variant NA NA NM_000051.3 intron_variant NA NA ATM SDHC 1 161310468 A/G 0.02 NM_003001.3 intron_variant NM_003001.3:c.241+23A>G NA NM_003001.3 intron_variant NM_003001.3:c.241+23A>G NA SDHC GATA2 3 128200649 G/A 0 NM_032638.4 intron_variant NM_032638.4:c.1143+13C>T NA NM_032638.4 intron_variant NM_032638.4:c.1143+13C>T NA GATA2 TSC2 16 2124414 A/T 0 NM_000548.3 intron_variant NM_000548.3:c.2545+24A>T NA NM_000548.3 intron_variant NM_000548.3:c.2545+24A>T NA TSC2 RUNX1 21 36421116 T/C 0.08 NM_001754.4 intron_variant NM_001754.4:c.58+23A>G NA NM_001754.4 intron_variant NM_001754.4:c.58+23A>G NA RUNX1 MET 7 116414891 G/C 0 NM_001127500.1 intron_variant NM_001127500.1:c.3083-44G>C NA NM_000245.2 intron_variant NM_000245.2:c.3029-44G>C NA MET FLCN 17 17129669 T/C 0 NM_144997.5 intron_variant NM_144997.5:c.250-33A>G NA NM_144997.5 intron_variant NM_144997.5:c.250-33A>G NA FLCN FANCI 15 89848515 G/A 0 NM_001113378.1 intron_variant NM_001113378.1:c.3186+42G>A NA NM_001113378.1 intron_variant NM_001113378.1:c.3186+42G>A NA FANCI CEP57 11 95560900 T/C 0 NM_014679.4 intron_variant NM_014679.4:c.886-50T>C NA NM_014679.4 intron_variant NM_014679.4:c.886-50T>C NA CEP57 NBN 8 90970939 TGAA/T 0 NM_002485.4 intron_variant NM_002485.4:c.1124+11_1124+13delTTC NA NM_002485.4 intron_variant NM_002485.4:c.1124+11_1124+13delTTC NA NBN BRCA2 13 32936853 C/T 0.02 NM_000059.3 intron_variant NM_000059.3:c.7976+23C>T NA NM_000059.3 intron_variant NM_000059.3:c.7976+23C>T NA BRCA2 BMPR1A 10 88676867 A/G 0 NM_004329.2 intron_variant NM_004329.2:c.676-24A>G NA NM_004329.2 intron_variant NM_004329.2:c.676-24A>G NA BMPR1A ERCC2 19 45873748 A/AC 0.04 NM_000400.3 intron_variant NM_000400.3:c.5+45dupG NA NM_000400.3 intron_variant NM_000400.3:c.5+45dupG NA ERCC2 BUB1B 15 40505689 A/T 0 NM_001211.5 intron_variant NM_001211.5:c.2678+14A>T NA NM_001211.5 intron_variant NM_001211.5:c.2678+14A>T NA BUB1B CHEK2 22 29107855 G/C 0 NM_001005735.1 intron_variant NM_001005735.1:c.921+42C>G NA NM_007194.3 intron_variant NM_007194.3:c.792+42C>G NA CHEK2 PRKAR1A 17 66521877 A/G 2.85 NM_212471.2 intron_variant NM_212471.2:c.550-18A>G NA NM_002734.4 intron_variant NM_002734.4:c.550-18A>G NA PRKAR1A MET 7 116399360 C/A 0 NM_001127500.1 intron_variant NM_001127500.1:c.2265-31C>A NA NM_000245.2 intron_variant NM_000245.2:c.2265-85C>A NA MET PTCH1 9 98221865 G/A 0 NM_000264.3 intron_variant NM_000264.3:c.2887+17C>T NA NM_000264.3 intron_variant NM_000264.3:c.2887+17C>T NA PTCH1 NF1 17 29554339 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.2325+30C>T NA NM_000267.3 intron_variant NM_000267.3:c.2325+30C>T NA NF1 PTCH1 9 98247921 C/T 0 NM_000264.3 intron_variant NM_000264.3:c.584+46G>A NA NM_000264.3 intron_variant NM_000264.3:c.584+46G>A NA PTCH1 BLM 15 91303808 T/C 0 NM_000057.2 intron_variant NM_000057.2:c.1221-16T>C NA NM_000057.2 intron_variant NM_000057.2:c.1221-16T>C NA BLM FANCD2 3 10085587 T/G 0 NM_033084.3 intron_variant NM_033084.3:c.1134+39T>G NA NM_033084.3 intron_variant NM_033084.3:c.1134+39T>G NA FANCD2 NBN 8 90976770 A/T 0 NM_002485.4 intron_variant NM_002485.4:c.897-35T>A NA NM_002485.4 intron_variant NM_002485.4:c.897-35T>A NA NBN FANCM 14 45618002 C/T 0 NM_020937.2 intron_variant NM_020937.2:c.760-38C>T NA NM_020937.2 intron_variant NM_020937.2:c.760-38C>T NA FANCM PMS1 2 190738210 T/C 0.14 NM_000534.4 intron_variant NM_000534.4:c.2474-12T>C NA NM_000534.4 intron_variant NM_000534.4:c.2474-12T>C NA PMS1 ALK 2 29473926 C/A 0.9 NM_004304.4 intron_variant NM_004304.4:c.2204+45G>T NA NM_004304.4 intron_variant NM_004304.4:c.2204+45G>T NA ALK WRN 8 31005017 TN/TN 0 NM_000553.4 intron_variant NA NA NM_000553.4 intron_variant NA NA WRN AIP 11 67257458 C/T 0.02 NM_003977.2 intron_variant NM_003977.2:c.469-51C>T NA NM_003977.2 intron_variant NM_003977.2:c.469-51C>T NA AIP WRN 8 30946502 T/A 0 NM_000553.4 intron_variant NM_000553.4:c.1652+21T>A NA NM_000553.4 intron_variant NM_000553.4:c.1652+21T>A NA WRN RET 10 43609140 C/T 0 NM_020975.4 intron_variant NM_020975.4:c.1879+17C>T NA NM_020975.4 intron_variant NM_020975.4:c.1879+17C>T NA RET EGFR,EGFR-AS1 7 55248952 G/A 0 NM_005228.3 intron_variant NM_005228.3:c.2284-34G>A NA NM_005228.3 intron_variant NM_005228.3:c.2284-34G>A NA EGFR BLM 15 91334091 T/C 0.02 NM_000057.2 intron_variant NM_000057.2:c.3019+17T>C NA NM_000057.2 intron_variant NM_000057.2:c.3019+17T>C NA BLM EXT1 8 118832067 C/T 0 NM_000127.2 intron_variant NM_000127.2:c.1418-34G>A NA NM_000127.2 intron_variant NM_000127.2:c.1418-34G>A NA EXT1 TSC2 16 2103299 C/A 0 NM_000548.3 intron_variant NM_000548.3:c.226-44C>A NA NM_000548.3 intron_variant NM_000548.3:c.226-44C>A NA TSC2 NF1 17 29486139 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.288+28G>A NA NM_000267.3 intron_variant NM_000267.3:c.288+28G>A NA NF1 AIP 11 67257744 C/G 0.02 NM_003977.2 intron_variant NM_003977.2:c.646-43C>G NA NM_003977.2 intron_variant NM_003977.2:c.646-43C>G NA AIP PMS2 7 6038947 A/ATATTATAGGAAT 0 NM_000535.5 intron_variant NM_000535.5:c.538-53_538-42dupATTCCTATAATA NA NM_000535.5 intron_variant NM_000535.5:c.538-53_538-42dupATTCCTATAATA NA PMS2 RB1 13 48942760 T/C 0 NM_000321.2 intron_variant NM_000321.2:c.1127+20T>C NA NM_000321.2 intron_variant NM_000321.2:c.1127+20T>C NA RB1 TSC2 16 2110837 G/A 0.1 NM_000548.3 intron_variant NM_000548.3:c.1119+23G>A NA NM_000548.3 intron_variant NM_000548.3:c.1119+23G>A NA TSC2 FANCM 14 45624550 A/G 0.04 NM_020937.2 intron_variant NM_020937.2:c.1310-26A>G NA NM_020937.2 intron_variant NM_020937.2:c.1310-26A>G NA FANCM FANCD2 3 10084396 A/G 0.84 NM_033084.3 intron_variant NM_033084.3:c.888+49A>G NA NM_033084.3 intron_variant NM_033084.3:c.888+49A>G NA FANCD2 NF1 17 29554663 T/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.2409+39T>G NA NM_000267.3 intron_variant NM_000267.3:c.2409+39T>G NA NF1 BUB1B 15 40462915 A/C 0.44 NM_001211.5 intron_variant NM_001211.5:c.384+33A>C NA NM_001211.5 intron_variant NM_001211.5:c.384+33A>C NA BUB1B XPA 9 100447347 A/G 0 NM_000380.3 intron_variant NM_000380.3:c.556-25T>C NA NM_000380.3 intron_variant NM_000380.3:c.556-25T>C NA XPA TSC2 16 2134183 G/A 0.02 NM_000548.3 intron_variant NM_000548.3:c.4006-46G>A NA NM_000548.3 intron_variant NM_000548.3:c.4006-46G>A NA TSC2 NF1 17 29587544 C/G 0.1 NM_001042492.2 intron_variant NM_001042492.2:c.4577+11C>G NA NM_000267.3 intron_variant NM_000267.3:c.4514+11C>G NA NF1 ERCC2 19 45868064 C/T 0 NM_000400.3 intron_variant NM_000400.3:c.594+32G>A NA NM_000400.3 intron_variant NM_000400.3:c.594+32G>A NA ERCC2 FANCM 14 45624050 G/A 0 NM_020937.2 intron_variant NM_020937.2:c.1309+25G>A NA NM_020937.2 intron_variant NM_020937.2:c.1309+25G>A NA FANCM ERCC3 2 128046489 A/G 0.08 NM_000122.1 intron_variant NM_000122.1:c.823-49T>C NA NM_000122.1 intron_variant NM_000122.1:c.823-49T>C NA ERCC3 EPCAM 2 47602347 A/G 0 NM_002354.2 intron_variant NM_002354.2:c.426-26A>G NA NM_002354.2 intron_variant NM_002354.2:c.426-26A>G NA EPCAM MET 7 116380189 A/G 0.24 NM_001127500.1 intron_variant NM_001127500.1:c.1527+51A>G NA NM_000245.2 intron_variant NM_000245.2:c.1527+51A>G NA MET WRN 8 30948490 C/T 0 NM_000553.4 intron_variant NM_000553.4:c.1829+32C>T NA NM_000553.4 intron_variant NM_000553.4:c.1829+32C>T NA WRN SUFU 10 104374997 C/T 0 NM_016169.3 intron_variant NM_016169.3:c.1023-28C>T NA NM_016169.3 intron_variant NM_016169.3:c.1023-28C>T NA SUFU TSC2 16 2133854 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.4005+37G>A NA NM_000548.3 intron_variant NM_000548.3:c.4005+37G>A NA TSC2 FANCA 16 89836551 G/A 0.74 NM_000135.2 intron_variant NM_000135.2:c.2316+23C>T NA NM_000135.2 intron_variant NM_000135.2:c.2316+23C>T NA FANCA GPC3 X 132826549 G/G 0.29 NM_001164617.1 intron_variant NM_001164617.1:c.1236-27T>C NA NM_004484.3 intron_variant NM_004484.3:c.1167-27T>C NA GPC3 FANCD2 3 10078053 G/A 0 NM_033084.3 intron_variant NM_033084.3:c.491+30G>A NA NM_033084.3 intron_variant NM_033084.3:c.491+30G>A NA FANCD2 RUNX1 21 36357873 G/G 0.02 NM_001754.4 intron_variant NM_001754.4:c.58+63266T>C NA NM_001754.4 intron_variant NM_001754.4:c.58+63266T>C NA RUNX1 DIS3L2 2 233103370 C/G 0.08 NM_152383.4 intron_variant NM_152383.4:c.1317+15C>G NA NM_152383.4 intron_variant NM_152383.4:c.1317+15C>G NA DIS3L2 MAX 14 65560390 T/C 0.68 NM_002382.4 intron_variant NM_002382.4:c.171+36A>G NA NM_002382.4 intron_variant NM_002382.4:c.171+36A>G NA MAX DICER1 14 95566108 CACAA/CACAA 0 NM_177438.2 intron_variant NM_177438.2:c.4206+8_4206+9insTTGT NA NM_177438.2 intron_variant NM_177438.2:c.4206+8_4206+9insTTGT NA DICER1 XPC 3 14190268 G/T 32.79 NM_004628.4 intron_variant NM_004628.4:c.2251-37C>A NA NM_004628.4 intron_variant NM_004628.4:c.2251-37C>A NA XPC ATM,C11ORF65 11 108203640 T/A 0 NM_000051.3 intron_variant NM_000051.3:c.7927+13T>A NA NM_000051.3 intron_variant NM_000051.3:c.7927+13T>A NA ATM WRN 8 30954258 C/T 0 NM_000553.4 intron_variant NM_000553.4:c.1899-26C>T NA NM_000553.4 intron_variant NM_000553.4:c.1899-26C>T NA WRN PRF1 10 72360098 C/G 2.38 NM_005041.4 intron_variant NM_005041.4:c.539+22G>C NA NM_005041.4 intron_variant NM_005041.4:c.539+22G>C NA PRF1 MSH2 2 47702460 T/G 4.27 NM_000251.2 intron_variant NM_000251.2:c.2005+51T>G NA NM_000251.2 intron_variant NM_000251.2:c.2005+51T>G NA MSH2 NBN 8 90976602 G/A 0 NM_002485.4 intron_variant NM_002485.4:c.994+36C>T NA NM_002485.4 intron_variant NM_002485.4:c.994+36C>T NA NBN NF1 17 29497066 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.586+51A>G NA NM_000267.3 intron_variant NM_000267.3:c.586+51A>G NA NF1 NF1 17 29663626 A/T 0.6 NM_001042492.2 intron_variant NM_001042492.2:c.6148-27A>T NA NM_000267.3 intron_variant NM_000267.3:c.6085-27A>T NA NF1 NF2 22 30035048 T/C 0 NM_000268.3 intron_variant NM_000268.3:c.241-31T>C NA NM_000268.3 intron_variant NM_000268.3:c.241-31T>C NA NF2 HRAS 11 534197 T/T 7.67 NM_005343.2 intron_variant NM_005343.2:c.111+15G>A NA NM_005343.2 intron_variant NM_005343.2:c.111+15G>A NA HRAS CDKN1C 11 2905210 C/CG 0 NM_000076.2 intron_variant NM_000076.2:c.*5+18_*5+19insC NA NM_000076.2 intron_variant NM_000076.2:c.*5+18_*5+19insC NA CDKN1C FANCA 16 89831494 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.2602-20C>T NA NM_000135.2 intron_variant NM_000135.2:c.2602-20C>T NA FANCA SMAD4 18 48592020 T/C 1.04 NM_005359.5 intron_variant NM_005359.5:c.1139+44T>C NA NM_005359.5 intron_variant NM_005359.5:c.1139+44T>C NA SMAD4 RET 10 43609136 C/T 0 NM_020975.4 intron_variant NM_020975.4:c.1879+13C>T NA NM_020975.4 intron_variant NM_020975.4:c.1879+13C>T NA RET SLX4 16 3645585 C/T 0.72 NM_032444.2 intron_variant NM_032444.2:c.2013+21G>A NA NM_032444.2 intron_variant NM_032444.2:c.2013+21G>A NA SLX4 BAP1 3 52442670 A/C 0.1 NM_004656.3 intron_variant NM_004656.3:c.123-48T>G NA NM_004656.3 intron_variant NM_004656.3:c.123-48T>G NA BAP1 TSC1 9 135785949 G/GGAT 0 NM_000368.4 intron_variant NM_000368.4:c.1263+6_1263+8dupATC NA NM_000368.4 intron_variant NM_000368.4:c.1263+6_1263+8dupATC NA TSC1 NF1 17 29677184 C/T 0.7 NM_001042492.2 intron_variant NM_001042492.2:c.7322-17C>T NA NM_000267.3 intron_variant NM_000267.3:c.7259-17C>T NA NF1 PMS2 7 6048618 C/G 0.1 NM_000535.5 intron_variant NM_000535.5:c.23+10G>C NA NM_000535.5 intron_variant NM_000535.5:c.23+10G>C NA PMS2 APC 5 112102859 A/C 0 NM_000038.5 intron_variant NM_000038.5:c.221-27A>C NA NM_000038.5 intron_variant NM_000038.5:c.221-27A>C NA APC TP53 17 7579825 A/G 0.02 NM_000546.5 intron_variant NM_000546.5:c.74+14T>C NA NM_000546.5 intron_variant NM_000546.5:c.74+14T>C NA TP53 WRN 8 30938368 T/A 0 NM_000553.4 intron_variant NM_000553.4:c.840-15T>A NA NM_000553.4 intron_variant NM_000553.4:c.840-15T>A NA WRN FANCA 16 89865551 G/C 0 NM_000135.2 intron_variant NM_000135.2:c.893+23C>G NA NM_000135.2 intron_variant NM_000135.2:c.893+23C>G NA FANCA BRIP1 17 59885786 T/G 0 NM_032043.2 intron_variant NM_032043.2:c.918+42A>C NA NM_032043.2 intron_variant NM_032043.2:c.918+42A>C NA BRIP1 XPC 3 14193818 C/A 0.16 NM_004628.4 intron_variant NM_004628.4:c.2115+17G>T NA NM_004628.4 intron_variant NM_004628.4:c.2115+17G>T NA XPC ERCC3 2 128044616 C/T 0 NM_000122.1 intron_variant NM_000122.1:c.1028-23G>A NA NM_000122.1 intron_variant NM_000122.1:c.1028-23G>A NA ERCC3 TSC2 16 2105557 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.599+37C>T NA NM_000548.3 intron_variant NM_000548.3:c.599+37C>T NA TSC2 FANCI 15 89807300 C/A 0 NM_001113378.1 intron_variant NM_001113378.1:c.669+43C>A NA NM_001113378.1 intron_variant NM_001113378.1:c.669+43C>A NA FANCI TSC2 16 2113069 G/A 0.04 NM_000548.3 intron_variant NM_000548.3:c.1443+15G>A NA NM_000548.3 intron_variant NM_000548.3:c.1443+15G>A NA TSC2 BRIP1 17 59926634 A/T 0.04 NM_032043.2 intron_variant NM_032043.2:c.380-17T>A NA NM_032043.2 intron_variant NM_032043.2:c.380-17T>A NA BRIP1 WRN 8 31001029 A/G 0 NM_000553.4 intron_variant NM_000553.4:c.3310-37A>G NA NM_000553.4 intron_variant NM_000553.4:c.3310-37A>G NA WRN SLX4 16 3652079 T/C 0 NM_032444.2 intron_variant NM_032444.2:c.950+40A>G NA NM_032444.2 intron_variant NM_032444.2:c.950+40A>G NA SLX4 TSC2 16 2129231 C/T 0.02 NM_000548.3 intron_variant NM_000548.3:c.3131+34C>T NA NM_000548.3 intron_variant NM_000548.3:c.3131+34C>T NA TSC2 TSC2 16 2126184 C/G 0 NM_000548.3 intron_variant NM_000548.3:c.2742+13C>G NA NM_000548.3 intron_variant NM_000548.3:c.2742+13C>G NA TSC2 TSC2 16 2112061 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.1257+52C>T NA NM_000548.3 intron_variant NM_000548.3:c.1257+52C>T NA TSC2 SUFU 10 104375182 A/G 0.02 NM_016169.3 intron_variant NM_016169.3:c.1157+23A>G NA NM_016169.3 intron_variant NM_016169.3:c.1157+23A>G NA SUFU ALK 2 29416833 A/G 0.06 NM_004304.4 intron_variant NM_004304.4:c.4165-45T>C NA NM_004304.4 intron_variant NM_004304.4:c.4165-45T>C NA ALK FANCI 15 89848514 T/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.3186+41T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3186+41T>C NA FANCI KIT 4 55573484 C/T 0.02 NM_000222.2 intron_variant NM_000222.2:c.1115+31C>T NA NM_000222.2 intron_variant NM_000222.2:c.1115+31C>T NA KIT PMS2 7 6043454 T/A 0 NM_000535.5 intron_variant NM_000535.5:c.251-31A>T NA NM_000535.5 intron_variant NM_000535.5:c.251-31A>T NA PMS2 EGFR 7 55221863 G/T 0.02 NM_005228.3 intron_variant NM_005228.3:c.889+18G>T NA NM_005228.3 intron_variant NM_005228.3:c.889+18G>T NA EGFR PMS1 2 190732501 A/G 0 NM_000534.4 intron_variant NM_000534.4:c.2343-24A>G NA NM_000534.4 intron_variant NM_000534.4:c.2343-24A>G NA PMS1 FANCD2,FANCD2OS 3 10130083 A/T 0.04 NM_033084.3 intron_variant NM_033084.3:c.3467-50A>T NA NM_033084.3 intron_variant NM_033084.3:c.3467-50A>T NA FANCD2 ERCC3 2 128029043 T/C 0 NM_000122.1 intron_variant NM_000122.1:c.1828-14A>G NA NM_000122.1 intron_variant NM_000122.1:c.1828-14A>G NA ERCC3 BUB1B 15 40477604 T/G 0 NM_001211.5 intron_variant NM_001211.5:c.966+24T>G NA NM_001211.5 intron_variant NM_001211.5:c.966+24T>G NA BUB1B WRN 8 30916085 T/C 3.73 NM_000553.4 intron_variant NM_000553.4:c.96+26T>C NA NM_000553.4 intron_variant NM_000553.4:c.96+26T>C NA WRN FANCD2 3 10091049 T/T 0 NM_033084.3 intron_variant NM_033084.3:c.1414-9C>T NA NM_033084.3 intron_variant NM_033084.3:c.1414-9C>T NA FANCD2 MLH1 3 37089192 A/T 0 NM_000249.3 intron_variant NM_000249.3:c.1896+18A>T NA NM_000249.3 intron_variant NM_000249.3:c.1896+18A>T NA MLH1 FANCD2 3 10089773 C/C 17.91 NM_033084.3 intron_variant NM_033084.3:c.1413+38A>C NA NM_033084.3 intron_variant NM_033084.3:c.1413+38A>C NA FANCD2 RB1 13 48934289 T/C 0.04 NM_000321.2 intron_variant NM_000321.2:c.718+26T>C NA NM_000321.2 intron_variant NM_000321.2:c.718+26T>C NA RB1 EGFR 7 55269380 A/G 0 NM_005228.3 intron_variant NM_005228.3:c.3115-48A>G NA NM_005228.3 intron_variant NM_005228.3:c.3115-48A>G NA EGFR TSC2 16 2134915 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.4494-37C>T NA NM_000548.3 intron_variant NM_000548.3:c.4494-37C>T NA TSC2 FANCA 16 89845318 A/G 0 NM_000135.2 intron_variant NM_000135.2:c.1776+33T>C NA NM_000135.2 intron_variant NM_000135.2:c.1776+33T>C NA FANCA DIS3L2 2 233194493 G/A 0.02 NM_152383.4 intron_variant NM_152383.4:c.1740-30G>A NA NM_152383.4 intron_variant NM_152383.4:c.1740-30G>A NA DIS3L2 FANCI 15 89856250 G/A 4.43 NM_001113378.1 intron_variant NM_001113378.1:c.3720+47G>A NA NM_001113378.1 intron_variant NM_001113378.1:c.3720+47G>A NA FANCI EZH2 7 148507402 T/C 0 NM_004456.4 intron_variant NM_004456.4:c.2029+23A>G NA NM_004456.4 intron_variant NM_004456.4:c.2029+23A>G NA EZH2 TP53 17 7579626 G/A 0 NM_000546.5 intron_variant NM_000546.5:c.97-36C>T NA NM_000546.5 intron_variant NM_000546.5:c.97-36C>T NA TP53 FANCI 15 89833552 C/A 0.02 NM_001113378.1 intron_variant NM_001113378.1:c.1890+40C>A NA NM_001113378.1 intron_variant NM_001113378.1:c.1890+40C>A NA FANCI PALB2 16 23646154 T/C 2.49 NM_024675.3 intron_variant NM_024675.3:c.1684+29A>G NA NM_024675.3 intron_variant NM_024675.3:c.1684+29A>G NA PALB2 SMARCB1 22 24133920 G/T 0 NM_003073.3 intron_variant NM_003073.3:c.94-23G>T NA NM_003073.3 intron_variant NM_003073.3:c.94-23G>T NA SMARCB1 BIVM-ERCC5,ERCC5 13 103508379 G/C 0 NM_001204425.1 intron_variant NM_001204425.1:c.1830-23G>C NA NM_000123.3 intron_variant NM_000123.3:c.468-23G>C NA ERCC5 BRCA2 13 32893495 C/G 0 NM_000059.3 intron_variant NM_000059.3:c.316+33C>G NA NM_000059.3 intron_variant NM_000059.3:c.316+33C>G NA BRCA2 BIVM-ERCC5,ERCC5 13 103520425 A/C 0 NM_001204425.1 intron_variant NM_001204425.1:c.3896-38A>C NA NM_000123.3 intron_variant NM_000123.3:c.2534-38A>C NA ERCC5 MET 7 116423320 A/G 2.14 NM_001127500.1 intron_variant NM_001127500.1:c.3687-38A>G NA NM_000245.2 intron_variant NM_000245.2:c.3633-38A>G NA MET EXT2 11 44148522 A/G 0 NM_000401.3 intron_variant NM_000401.3:c.1178+17A>G NA NM_207122.1 intron_variant NM_207122.1:c.1079+17A>G NA EXT2 CEP57 11 95562536 A/G 0 NM_014679.4 intron_variant NM_014679.4:c.1272+41A>G NA NM_014679.4 intron_variant NM_014679.4:c.1272+41A>G NA CEP57 FANCM 14 45624688 A/A 2.08 NM_020937.2 intron_variant NM_020937.2:c.1396+26G>A NA NM_020937.2 intron_variant NM_020937.2:c.1396+26G>A NA FANCM MSH2 2 47643601 A/G 0 NM_000251.2 intron_variant NM_000251.2:c.1076+33A>G NA NM_000251.2 intron_variant NM_000251.2:c.1076+33A>G NA MSH2 DICER1 14 95583927 T/C 0.16 NM_177438.2 intron_variant NM_177438.2:c.1509+32A>G NA NM_177438.2 intron_variant NM_177438.2:c.1509+32A>G NA DICER1 NBN 8 90967464 C/C 0 NM_002485.4 intron_variant NM_002485.4:c.1397+46delA NA NM_002485.4 intron_variant NM_002485.4:c.1397+46delA NA NBN DICER1 14 95592893 T/C 0 NM_177438.2 intron_variant NM_177438.2:c.903+24A>G NA NM_177438.2 intron_variant NM_177438.2:c.903+24A>G NA DICER1 ATM,C11ORF65 11 108199710 T/G 0 NM_000051.3 intron_variant NM_000051.3:c.7090-38T>G NA NM_000051.3 intron_variant NM_000051.3:c.7090-38T>G NA ATM BRCA1 17 41228641 G/A 0.04 NM_007300.3 intron_variant NM_007300.3:c.4424-13C>T NA NM_007294.3 intron_variant NM_007294.3:c.4358-10C>T NA BRCA1 SMAD4 18 48593589 CTT/C 0 NM_005359.5 intron_variant NM_005359.5:c.1308+33_1308+34delTT NA NM_005359.5 intron_variant NM_005359.5:c.1308+33_1308+34delTT NA SMAD4 PRKAR1A 17 66520112 G/A 0.32 NM_212471.2 intron_variant NM_212471.2:c.441-45G>A NA NM_002734.4 intron_variant NM_002734.4:c.441-45G>A NA PRKAR1A DIS3L2 2 233195376 T/C 0 NM_152383.4 intron_variant NM_152383.4:c.1924-24T>C NA NM_152383.4 intron_variant NM_152383.4:c.1924-24T>C NA DIS3L2 TSC2 16 2106819 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.774+49G>A NA NM_000548.3 intron_variant NM_000548.3:c.774+49G>A NA TSC2 FANCD2 3 10103811 T/A 0.02 NM_033084.3 intron_variant NM_033084.3:c.1767-24T>A NA NM_033084.3 intron_variant NM_033084.3:c.1767-24T>A NA FANCD2 CDKN1C 11 2905204 G/GCC 0 NM_000076.2 intron_variant NM_000076.2:c.*5+23_*5+24dupGG NA NM_000076.2 intron_variant NM_000076.2:c.*5+23_*5+24dupGG NA CDKN1C SMAD4 18 48592017 G/A 0 NM_005359.5 intron_variant NM_005359.5:c.1139+41G>A NA NM_005359.5 intron_variant NM_005359.5:c.1139+41G>A NA SMAD4 FANCI 15 89806601 T/C 0.1 NM_001113378.1 intron_variant NM_001113378.1:c.504-49T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.504-49T>C NA FANCI EXT2 11 44148339 A/G 0 NM_000401.3 intron_variant NM_000401.3:c.1039-27A>G NA NM_207122.1 intron_variant NM_207122.1:c.940-27A>G NA EXT2 BLM 15 91334095 G/A 0 NM_000057.2 intron_variant NM_000057.2:c.3019+21G>A NA NM_000057.2 intron_variant NM_000057.2:c.3019+21G>A NA BLM NF1 17 29560240 T/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.3708+9T>A NA NM_000267.3 intron_variant NM_000267.3:c.3708+9T>A NA NF1 PTCH1 9 98231008 G/G 8.78 NM_000264.3 intron_variant NM_000264.3:c.2250+25T>C NA NM_000264.3 intron_variant NM_000264.3:c.2250+25T>C NA PTCH1 ERCC3 2 128030405 T/C 0 NM_000122.1 intron_variant NM_000122.1:c.1827+36A>G NA NM_000122.1 intron_variant NM_000122.1:c.1827+36A>G NA ERCC3 EZH2 7 148524231 T/C 0 NM_004456.4 intron_variant NM_004456.4:c.728+25A>G NA NM_004456.4 intron_variant NM_004456.4:c.728+25A>G NA EZH2 WRN 8 30948491 C/T 0 NM_000553.4 intron_variant NM_000553.4:c.1829+33C>T NA NM_000553.4 intron_variant NM_000553.4:c.1829+33C>T NA WRN DICER1 14 95557326 G/A 0 NM_177438.2 intron_variant NM_177438.2:c.5603+45C>T NA NM_177438.2 intron_variant NM_177438.2:c.5603+45C>T NA DICER1 NF1 17 29665168 C/T 0.04 NM_001042492.2 intron_variant NM_001042492.2:c.6819+11C>T NA NM_000267.3 intron_variant NM_000267.3:c.6756+11C>T NA NF1 ERCC3 2 128029057 T/C 0 NM_000122.1 intron_variant NM_000122.1:c.1828-28A>G NA NM_000122.1 intron_variant NM_000122.1:c.1828-28A>G NA ERCC3 FANCM 14 45639980 TC/T 0 NM_020937.2 intron_variant NM_020937.2:c.2160+39delC NA NM_020937.2 intron_variant NM_020937.2:c.2160+39delC NA FANCM ATM 11 108150168 T/C 0 NM_000051.3 intron_variant NM_000051.3:c.3285-50T>C NA NM_000051.3 intron_variant NM_000051.3:c.3285-50T>C NA ATM CDC73 1 193117124 T/T 1.26 NM_024529.4 intron_variant NM_024529.4:c.828+29A>T NA NM_024529.4 intron_variant NM_024529.4:c.828+29A>T NA CDC73 RECQL4 8 145742943 G/A 0 NM_004260.3 intron_variant NM_004260.3:c.118+43C>T NA NM_004260.3 intron_variant NM_004260.3:c.118+43C>T NA RECQL4 PTCH1 9 98240489 G/A 0 NM_000264.3 intron_variant NM_000264.3:c.1216-21C>T NA NM_000264.3 intron_variant NM_000264.3:c.1216-21C>T NA PTCH1 NF1 17 29508818 G/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.730+15G>T NA NM_000267.3 intron_variant NM_000267.3:c.730+15G>T NA NF1 DIS3L2 2 232889091 A/T 0 NM_152383.4 intron_variant NM_152383.4:c.264+51A>T NA NM_152383.4 intron_variant NM_152383.4:c.264+51A>T NA DIS3L2 ALK 2 29445192 G/A 0.2 NM_004304.4 intron_variant NM_004304.4:c.3515+18C>T NA NM_004304.4 intron_variant NM_004304.4:c.3515+18C>T NA ALK EGFR 7 55259373 G/A 0 NM_005228.3 intron_variant NM_005228.3:c.2470-39G>A NA NM_005228.3 intron_variant NM_005228.3:c.2470-39G>A NA EGFR CDH1 16 68842578 C/T 0.02 NM_004360.3 intron_variant NM_004360.3:c.532-18C>T NA NM_004360.3 intron_variant NM_004360.3:c.532-18C>T NA CDH1 NF1 17 29663624 TAA/TA 18.17 NM_001042492.2 intron_variant NM_001042492.2:c.6148-29_6148-28insA NA NM_000267.3 intron_variant NM_000267.3:c.6085-29_6085-28insAA NA NF1 BRCA2 13 32905024 A/G 0 NM_000059.3 intron_variant NM_000059.3:c.682-32A>G NA NM_000059.3 intron_variant NM_000059.3:c.682-32A>G NA BRCA2 APC 5 112116457 T/C 0 NM_000038.5 intron_variant NM_000038.5:c.532-30T>C NA NM_000038.5 intron_variant NM_000038.5:c.532-30T>C NA APC PRKAR1A 17 66521131 T/A 0.02 NM_212471.2 intron_variant NM_212471.2:c.549+32T>A NA NM_002734.4 intron_variant NM_002734.4:c.549+32T>A NA PRKAR1A NF1 17 29588678 G/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.4578-51G>C NA NM_000267.3 intron_variant NM_000267.3:c.4515-51G>C NA NF1 CYLD 16 50825642 T/A 3.67 NM_015247.2 intron_variant NM_015247.2:c.2241+41T>A NA NM_001042412.1 intron_variant NM_001042412.1:c.2232+41T>A NA CYLD BLM 15 91334124 T/G 0 NM_000057.2 intron_variant NM_000057.2:c.3019+50T>G NA NM_000057.2 intron_variant NM_000057.2:c.3019+50T>G NA BLM CYLD 16 50828088 T/T 0.2 NM_015247.2 intron_variant NM_015247.2:c.2470-35C>T NA NM_001042412.1 intron_variant NM_001042412.1:c.2461-35C>T NA CYLD RB1 13 48916698 T/C 0 NM_000321.2 intron_variant NM_000321.2:c.265-37T>C NA NM_000321.2 intron_variant NM_000321.2:c.265-37T>C NA RB1 STK11 19 1219422 C/T 0 NM_000455.4 intron_variant NM_000455.4:c.464+10C>T NA NM_000455.4 intron_variant NM_000455.4:c.464+10C>T NA STK11 GPC3 X 133087288 C/T 0 NM_001164617.1 intron_variant NM_001164617.1:c.176-50G>A NA NM_004484.3 intron_variant NM_004484.3:c.176-50G>A NA GPC3 SDHC 1 161326653 C/T 0 NM_003001.3 intron_variant NM_003001.3:c.405+23C>T NA NM_003001.3 intron_variant NM_003001.3:c.405+23C>T NA SDHC BAP1 3 52443667 A/C 0 NM_004656.3 intron_variant NM_004656.3:c.68-43T>G NA NM_004656.3 intron_variant NM_004656.3:c.68-43T>G NA BAP1 XPA 9 100456065 C/A 0 NM_000380.3 intron_variant NM_000380.3:c.173-24G>T NA NM_000380.3 intron_variant NM_000380.3:c.173-24G>T NA XPA ATM,C11ORF65 11 108218101 T/G 0 NM_000051.3 intron_variant NM_000051.3:c.8671+9T>G NA NM_000051.3 intron_variant NM_000051.3:c.8671+9T>G NA ATM GPC3 X 132888222 A/G 0.11 NM_001164617.1 intron_variant NM_001164617.1:c.338-19T>C NA NM_004484.3 intron_variant NM_004484.3:c.338-19T>C NA GPC3 WRN 8 30925751 A/A 3.51 NM_000553.4 intron_variant NM_000553.4:c.655-23T>A NA NM_000553.4 intron_variant NM_000553.4:c.655-23T>A NA WRN WRN 8 30921970 T/T 3.61 NM_000553.4 intron_variant NM_000553.4:c.355+20A>T NA NM_000553.4 intron_variant NM_000553.4:c.355+20A>T NA WRN SMARCB1 22 24143292 C/G 0.02 NM_003073.3 intron_variant NM_003073.3:c.500+24C>G NA NM_003073.3 intron_variant NM_003073.3:c.500+24C>G NA SMARCB1 RET 10 43596211 A/C 0 NM_020975.4 intron_variant NM_020975.4:c.337+41A>C NA NM_020975.4 intron_variant NM_020975.4:c.337+41A>C NA RET APC 5 112111309 T/A 0.32 NM_000038.5 intron_variant NM_000038.5:c.423-17T>A NA NM_000038.5 intron_variant NM_000038.5:c.423-17T>A NA APC NF1 17 29563077 T/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.3974+38T>G NA NM_000267.3 intron_variant NM_000267.3:c.3974+38T>G NA NF1 MSH2 2 47637184 A/T 0 NM_000251.2 intron_variant NM_000251.2:c.367-49A>T NA NM_000251.2 intron_variant NM_000251.2:c.367-49A>T NA MSH2 MLH1 3 37067095 A/ATT 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-27delATATT NA NM_000249.3 intron_variant NM_000249.3:c.1039-32_1039-26delTATATTT NA MLH1 MLH1 3 37067098 T/T 0 NM_000249.3 intron_variant NM_000249.3:c.1039-29delA NA NM_000249.3 intron_variant NM_000249.3:c.1039-29delA NA MLH1 TSC2 16 2105565 C/G 0 NM_000548.3 intron_variant NM_000548.3:c.599+45C>G NA NM_000548.3 intron_variant NM_000548.3:c.599+45C>G NA TSC2 CHEK2 22 29085075 G/T 0 NM_001005735.1 intron_variant NM_001005735.1:c.1671+48C>A NA NM_007194.3 intron_variant NM_007194.3:c.1542+48C>A NA CHEK2 RET 10 43604707 GAAGATTGA/G 0 NM_020975.4 intron_variant NM_020975.4:c.1263+33_1263+40delATTGAAAG NA NM_020975.4 intron_variant NM_020975.4:c.1263+33_1263+40delATTGAAAG NA RET BAP1 3 52441526 G/A 0 NM_004656.3 intron_variant NM_004656.3:c.376-50C>T NA NM_004656.3 intron_variant NM_004656.3:c.376-50C>T NA BAP1 EXT2 11 44253871 G/A 0.06 NM_000401.3 intron_variant NM_000401.3:c.1762-32G>A NA NM_207122.1 intron_variant NM_207122.1:c.1663-32G>A NA EXT2 ALK 2 29940435 T/C 0 NM_004304.4 intron_variant NM_004304.4:c.787+9A>G NA NM_004304.4 intron_variant NM_004304.4:c.787+9A>G NA ALK BLM 15 91303800 CGTT/C 0 NM_000057.2 intron_variant NM_000057.2:c.1221-20_1221-18delGTT NA NM_000057.2 intron_variant NM_000057.2:c.1221-20_1221-18delGTT NA BLM FANCL 2 58468313 A/G 0 NM_001114636.1 intron_variant NM_001114636.1:c.96+40T>C NA NM_018062.3 intron_variant NM_018062.3:c.96+40T>C NA FANCL BRIP1 17 59770919 A/C 0 NM_032043.2 intron_variant NM_032043.2:c.2493-46T>G NA NM_032043.2 intron_variant NM_032043.2:c.2493-46T>G NA BRIP1 VHL 3 10188161 G/A 2.48 NM_000551.3 intron_variant NM_000551.3:c.341-37G>A NA NM_000551.3 intron_variant NM_000551.3:c.341-37G>A NA VHL PMS2 7 6035304 G/A 0 NM_000535.5 intron_variant NM_000535.5:c.804-40C>T NA NM_000535.5 intron_variant NM_000535.5:c.804-40C>T NA PMS2 EXT2 11 44146315 A/G 0 NM_000401.3 intron_variant NM_000401.3:c.843-24A>G NA NM_207122.1 intron_variant NM_207122.1:c.744-24A>G NA EXT2 ATM 11 108119630 G/A 0 NM_000051.3 intron_variant NM_000051.3:c.1066-30G>A NA NM_000051.3 intron_variant NM_000051.3:c.1066-30G>A NA ATM ATM 11 108155237 A/T 0 NM_000051.3 intron_variant NM_000051.3:c.3993+37A>T NA NM_000051.3 intron_variant NM_000051.3:c.3993+37A>T NA ATM TP53 17 7574074 G/A 0.02 NM_000546.5 intron_variant NM_000546.5:c.994-41C>T NA NM_000546.5 intron_variant NM_000546.5:c.994-41C>T NA TP53 VHL 3 10188183 T/C 0 NM_000551.3 intron_variant NM_000551.3:c.341-15T>C NA NM_000551.3 intron_variant NM_000551.3:c.341-15T>C NA VHL MLH1 3 37067095 ATATATTTTT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-23delATATTTTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-31_1039-23delATATTTTTT NA MLH1 BIVM-ERCC5,ERCC5 13 103518595 G/GA 0 NM_001204425.1 intron_variant NM_001204425.1:c.3562-11dupA NA NM_000123.3 intron_variant NM_000123.3:c.2200-11dupA NA ERCC5 FANCI 15 89816710 T/A 0 NM_001113378.1 intron_variant NM_001113378.1:c.975+10T>A NA NM_001113378.1 intron_variant NM_001113378.1:c.975+10T>A NA FANCI ATM 11 108100098 C/T 0.06 NM_000051.3 intron_variant NM_000051.3:c.331+48C>T NA NM_000051.3 intron_variant NM_000051.3:c.331+48C>T NA ATM NF1 17 29663540 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.6147+49A>G NA NM_000267.3 intron_variant NM_000267.3:c.6084+49A>G NA NF1 SDHC 1 161310350 C/T 0 NM_003001.3 intron_variant NM_003001.3:c.180-34C>T NA NM_003001.3 intron_variant NM_003001.3:c.180-34C>T NA SDHC EZH2 7 148508821 T/G 0 NM_004456.4 intron_variant NM_004456.4:c.1852-9A>C NA NM_004456.4 intron_variant NM_004456.4:c.1852-9A>C NA EZH2 ATM 11 108168151 C/G 0 NM_000051.3 intron_variant NM_000051.3:c.5005+42C>G NA NM_000051.3 intron_variant NM_000051.3:c.5005+42C>G NA ATM NF1 17 29677187 C/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.7322-14C>T NA NM_000267.3 intron_variant NM_000267.3:c.7259-14C>T NA NF1 FANCE 6 35425657 G/T 0 NM_021922.2 intron_variant NM_021922.2:c.901-36G>T NA NM_021922.2 intron_variant NM_021922.2:c.901-36G>T NA FANCE RB1 13 48954172 T/A 0 NM_000321.2 intron_variant NM_000321.2:c.1390-17T>A NA NM_000321.2 intron_variant NM_000321.2:c.1390-17T>A NA RB1 ALK 2 29541283 A/G 0 NM_004304.4 intron_variant NM_004304.4:c.1547-13T>C NA NM_004304.4 intron_variant NM_004304.4:c.1547-13T>C NA ALK NF1 17 29556492 T/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.2850+9T>C NA NM_000267.3 intron_variant NM_000267.3:c.2850+9T>C NA NF1 XPA 9 100449556 T/G 0 NM_000380.3 intron_variant NM_000380.3:c.390-13A>C NA NM_000380.3 intron_variant NM_000380.3:c.390-13A>C NA XPA ALK 2 29474165 G/A 0.26 NM_004304.4 intron_variant NM_004304.4:c.2042-32C>T NA NM_004304.4 intron_variant NM_004304.4:c.2042-32C>T NA ALK ALK 2 29432625 C/A 10.3 NM_004304.4 intron_variant NM_004304.4:c.3836+27G>T NA NM_004304.4 intron_variant NM_004304.4:c.3836+27G>T NA ALK RHBDF2 17 74475409 A/A 2.16 NM_024599.5 intron_variant NM_024599.5:c.360-50C>T NA NM_001005498.3 intron_variant NM_001005498.3:c.273-50C>T NA RHBDF2 NF2 22 30070950 G/C 0 NM_000268.3 intron_variant NM_000268.3:c.1446+20G>C NA NM_000268.3 intron_variant NM_000268.3:c.1446+20G>C NA NF2 FANCI 15 89856223 C/T 0.02 NM_001113378.1 intron_variant NM_001113378.1:c.3720+20C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.3720+20C>T NA FANCI FLCN 17 17118652 GGCTCCTCATCTCCCCCAT/G 0.14 NM_144997.5 intron_variant NM_144997.5:c.1301-40_1301-23delATGGGGGAGATGAGGAGC NA NM_144997.5 intron_variant NM_144997.5:c.1301-40_1301-23delATGGGGGAGATGAGGAGC NA FLCN ATM,C11ORF65 11 108216447 TTATA/T 0 NM_000051.3 intron_variant NM_000051.3:c.8419-17_8419-14delATAT NA NM_000051.3 intron_variant NM_000051.3:c.8419-17_8419-14delATAT NA ATM MSH2 2 47702451 GTTT/G 0.04 NM_000251.2 intron_variant NM_000251.2:c.2005+60_2005+61delTT NA NM_000251.2 intron_variant NM_000251.2:c.2005+44_2005+45insT NA MSH2 RHBDF2 17 74471258 C/T 0 NM_024599.5 intron_variant NM_024599.5:c.1203-35G>A NA NM_001005498.3 intron_variant NM_001005498.3:c.1116-35G>A NA RHBDF2 FANCM 14 45650751 A/C 0 NM_020937.2 intron_variant NM_020937.2:c.4317+24A>C NA NM_020937.2 intron_variant NM_020937.2:c.4317+24A>C NA FANCM XPC 3 14208630 A/A 11.06 NM_004628.4 intron_variant NM_004628.4:c.621+39C>T NA NM_004628.4 intron_variant NM_004628.4:c.621+39C>T NA XPC RUNX1 21 36252811 G/A 0 NM_001754.4 intron_variant NM_001754.4:c.508+43C>T NA NM_001754.4 intron_variant NM_001754.4:c.508+43C>T NA RUNX1 MSH2 2 47702457 T/TG 0.04 NM_000251.2 intron_variant NM_000251.2:c.2005+48_2005+49insG NA NM_000251.2 intron_variant NM_000251.2:c.2005+48_2005+49insG NA MSH2 BIVM-ERCC5,ERCC5 13 103518955 C/T 0 NM_001204425.1 intron_variant NM_001204425.1:c.3682-27C>T NA NM_000123.3 intron_variant NM_000123.3:c.2320-27C>T NA ERCC5 HNF1A 12 121434041 G/A 0.02 NM_000545.5 intron_variant NM_000545.5:c.956-24G>A NA NM_000545.5 intron_variant NM_000545.5:c.956-24G>A NA HNF1A PTCH1 9 98239023 CTTT/C 0 NM_000264.3 intron_variant NM_000264.3:c.1602+15_1602+17delAAA NA NM_000264.3 intron_variant NM_000264.3:c.1602+15_1602+17delAAA NA PTCH1 STK11 19 1219451 C/CG 0 NM_000455.4 intron_variant NM_000455.4:c.464+44dupG NA NM_000455.4 intron_variant NM_000455.4:c.464+44dupG NA STK11 SLX4 16 3644413 A/G 0 NM_032444.2 intron_variant NM_032444.2:c.2160+41T>C NA NM_032444.2 intron_variant NM_032444.2:c.2160+41T>C NA SLX4 CEP57 11 95552112 G/A 0.16 NM_014679.4 intron_variant NM_014679.4:c.699+44G>A NA NM_014679.4 intron_variant NM_014679.4:c.699+44G>A NA CEP57 ATM,C11ORF65 11 108196995 T/TA 0 NM_000051.3 intron_variant NM_000051.3:c.6975+50dupA NA NM_000051.3 intron_variant NM_000051.3:c.6975+50dupA NA ATM FANCM 14 45624050 A/A 0 NM_020937.2 intron_variant NM_020937.2:c.1309+25G>A NA NM_020937.2 intron_variant NM_020937.2:c.1309+25G>A NA FANCM FANCA 16 89849228 G/A 0.06 NM_000135.2 intron_variant NM_000135.2:c.1626+39C>T NA NM_000135.2 intron_variant NM_000135.2:c.1626+39C>T NA FANCA FANCL 2 58431397 G/A 0 NM_001114636.1 intron_variant NM_001114636.1:c.375-36C>T NA NM_018062.3 intron_variant NM_018062.3:c.375-36C>T NA FANCL RECQL4 8 145742172 C/T 1.02 NM_004260.3 intron_variant NM_004260.3:c.355-24G>A NA NM_004260.3 intron_variant NM_004260.3:c.355-24G>A NA RECQL4 BRCA1 17 41246926 A/C 0 NM_007300.3 intron_variant NM_007300.3:c.671-49T>G NA NM_007294.3 intron_variant NM_007294.3:c.671-49T>G NA BRCA1 TSC1 9 135785921 G/A 0 NM_000368.4 intron_variant NM_000368.4:c.1263+37C>T NA NM_000368.4 intron_variant NM_000368.4:c.1263+37C>T NA TSC1 NF1 17 29508691 A/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.655-37A>C NA NM_000267.3 intron_variant NM_000267.3:c.655-37A>C NA NF1 RB1 13 48916860 C/G 0.06 NM_000321.2 intron_variant NM_000321.2:c.380+10C>G NA NM_000321.2 intron_variant NM_000321.2:c.380+10C>G NA RB1 HNF1A 12 121431523 C/T 0 NM_000545.5 intron_variant NM_000545.5:c.713+14C>T NA NM_000545.5 intron_variant NM_000545.5:c.713+14C>T NA HNF1A WRN 8 30942811 A/G 0 NM_000553.4 intron_variant NM_000553.4:c.1431+49A>G NA NM_000553.4 intron_variant NM_000553.4:c.1431+49A>G NA WRN STK11 19 1219279 G/A 0 NM_000455.4 intron_variant NM_000455.4:c.375-44G>A NA NM_000455.4 intron_variant NM_000455.4:c.375-44G>A NA STK11 WT1 11 32438008 C/T 0 NM_024426.4 intron_variant NM_024426.4:c.1001+28G>A NA NM_024426.4 intron_variant NM_024426.4:c.1001+28G>A NA WT1 DIS3L2 2 233001157 T/C 0.02 NM_152383.4 intron_variant NM_152383.4:c.703-25T>C NA NM_152383.4 intron_variant NM_152383.4:c.703-25T>C NA DIS3L2 PMS1 2 190660458 T/C 0 NM_000534.4 intron_variant NM_000534.4:c.133-37T>C NA NM_000534.4 intron_variant NM_000534.4:c.133-37T>C NA PMS1 EGFR 7 55240852 C/T 0 NM_005228.3 intron_variant NM_005228.3:c.2061+35C>T NA NM_005228.3 intron_variant NM_005228.3:c.2061+35C>T NA EGFR FANCC 9 97887317 A/C 0 NM_000136.2 intron_variant NM_000136.2:c.996+51T>G NA NM_000136.2 intron_variant NM_000136.2:c.996+51T>G NA FANCC DICER1 14 95557464 G/C 0 NM_177438.2 intron_variant NM_177438.2:c.5528-18C>G NA NM_177438.2 intron_variant NM_177438.2:c.5528-18C>G NA DICER1 NF1 17 29562897 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.3871-39G>A NA NM_000267.3 intron_variant NM_000267.3:c.3871-39G>A NA NF1 FANCM 14 45639980 T/C 0.5 NM_020937.2 intron_variant NM_020937.2:c.2160+31T>C NA NM_020937.2 intron_variant NM_020937.2:c.2160+31T>C NA FANCM SMARCB1 22 24158910 C/T 0 NM_003073.3 intron_variant NM_003073.3:c.629-47C>T NA NM_003073.3 intron_variant NM_003073.3:c.629-47C>T NA SMARCB1 MET 7 116399343 C/G 0 NM_001127500.1 intron_variant NM_001127500.1:c.2265-48C>G NA NM_000245.2 intron_variant NM_000245.2:c.2265-102C>G NA MET ATM 11 108151706 T/TA 3.49 NM_000051.3 intron_variant NM_000051.3:c.3403-16_3403-15insA NA NM_000051.3 intron_variant NM_000051.3:c.3403-16_3403-15insA NA ATM BLM 15 91334085 C/A 0 NM_000057.2 intron_variant NM_000057.2:c.3019+11C>A NA NM_000057.2 intron_variant NM_000057.2:c.3019+11C>A NA BLM TSC2 16 2120427 G/A 0.14 NM_000548.3 intron_variant NM_000548.3:c.1717-30G>A NA NM_000548.3 intron_variant NM_000548.3:c.1717-30G>A NA TSC2 XPC 3 14208620 T/C 0.12 NM_004628.4 intron_variant NM_004628.4:c.621+49A>G NA NM_004628.4 intron_variant NM_004628.4:c.621+49A>G NA XPC SUFU 10 104353346 G/C 0 NM_016169.3 intron_variant NM_016169.3:c.598-47G>C NA NM_016169.3 intron_variant NM_016169.3:c.598-47G>C NA SUFU BUB1B 15 40492581 G/A 0.02 NM_001211.5 intron_variant NM_001211.5:c.1517+21G>A NA NM_001211.5 intron_variant NM_001211.5:c.1517+21G>A NA BUB1B RB1 13 49039125 C/A 0 NM_000321.2 intron_variant NM_000321.2:c.2212-9C>A NA NM_000321.2 intron_variant NM_000321.2:c.2212-9C>A NA RB1 BUB1B 15 40494682 G/GT 0 NM_001211.5 intron_variant NM_001211.5:c.1628+23dupT NA NM_001211.5 intron_variant NM_001211.5:c.1628+23dupT NA BUB1B ATM 11 108114643 A/T 0 NM_000051.3 intron_variant NM_000051.3:c.497-37A>T NA NM_000051.3 intron_variant NM_000051.3:c.497-37A>T NA ATM PTEN 10 89717799 G/A 0.08 NM_000314.4 intron_variant NM_000314.4:c.801+23G>A NA NM_000314.4 intron_variant NM_000314.4:c.801+23G>A NA PTEN ERCC2 19 45867235 G/A 0.02 NM_000400.3 intron_variant NM_000400.3:c.949+9C>T NA NM_000400.3 intron_variant NM_000400.3:c.949+9C>T NA ERCC2 RB1 13 49030504 T/A 0 NM_000321.2 intron_variant NM_000321.2:c.1960+19T>A NA NM_000321.2 intron_variant NM_000321.2:c.1960+19T>A NA RB1 RB1 13 49039125 C/T 0 NM_000321.2 intron_variant NM_000321.2:c.2212-9C>T NA NM_000321.2 intron_variant NM_000321.2:c.2212-9C>T NA RB1 MSH6 2 48033822 AACTGACCTT/A 0 NM_000179.2 intron_variant NM_000179.2:c.4001+34_4001+42delCTGACCTTA NA NM_000179.2 intron_variant NM_000179.2:c.4001+34_4001+42delCTGACCTTA NA MSH6 BRCA2 13 32900797 A/G 0 NM_000059.3 intron_variant NM_000059.3:c.631+47A>G NA NM_000059.3 intron_variant NM_000059.3:c.631+47A>G NA BRCA2 TP53 17 7578129 C/A 0.34 NM_000546.5 intron_variant NM_000546.5:c.672+48G>T NA NM_000546.5 intron_variant NM_000546.5:c.672+48G>T NA TP53 MAX 14 65568305 A/G 0 NM_002382.4 intron_variant NM_002382.4:c.37-15T>C NA NM_002382.4 intron_variant NM_002382.4:c.37-15T>C NA MAX ERCC4 16 14020382 C/G 3.61 NM_005236.2 intron_variant NM_005236.2:c.389-36C>G NA NM_005236.2 intron_variant NM_005236.2:c.389-36C>G NA ERCC4 EGFR 7 55242391 G/A 0.04 NM_005228.3 intron_variant NM_005228.3:c.2185-24G>A NA NM_005228.3 intron_variant NM_005228.3:c.2185-24G>A NA EGFR SLX4 16 3646412 G/A 0 NM_032444.2 intron_variant NM_032444.2:c.1684-18C>T NA NM_032444.2 intron_variant NM_032444.2:c.1684-18C>T NA SLX4 NF2 22 30057161 C/T 0.02 NM_000268.3 intron_variant NM_000268.3:c.676-33C>T NA NM_000268.3 intron_variant NM_000268.3:c.676-33C>T NA NF2 TSC2 16 2105376 C/T 0.4 NM_000548.3 intron_variant NM_000548.3:c.482-27C>T NA NM_000548.3 intron_variant NM_000548.3:c.482-27C>T NA TSC2 CYLD 16 50828072 C/T 0.02 NM_015247.2 intron_variant NM_015247.2:c.2470-51C>T NA NM_001042412.1 intron_variant NM_001042412.1:c.2461-51C>T NA CYLD ATM,C11ORF65 11 108186726 C/A 0 NM_000051.3 intron_variant NM_000051.3:c.6096-12C>A NA NM_000051.3 intron_variant NM_000051.3:c.6096-12C>A NA ATM MSH6 2 48032033 C/T 0.08 NM_000179.2 intron_variant NM_000179.2:c.3439-16C>T NA NM_000179.2 intron_variant NM_000179.2:c.3439-16C>T NA MSH6 EZH2 7 148513744 G/C 0 NM_004456.4 intron_variant NM_004456.4:c.1505+32C>G NA NM_004456.4 intron_variant NM_004456.4:c.1505+32C>G NA EZH2 MSH6 2 48032192 T/C 0 NM_000179.2 intron_variant NM_000179.2:c.3556+26T>C NA NM_000179.2 intron_variant NM_000179.2:c.3556+26T>C NA MSH6 ATM 11 108160552 A/G 0 NM_000051.3 intron_variant NM_000051.3:c.4436+24A>G NA NM_000051.3 intron_variant NM_000051.3:c.4436+24A>G NA ATM FANCA 16 89849392 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.1566+23C>T NA NM_000135.2 intron_variant NM_000135.2:c.1566+23C>T NA FANCA RAD51C 17 56801486 C/T 0 NM_058216.2 intron_variant NM_058216.2:c.965+25C>T NA NM_058216.2 intron_variant NM_058216.2:c.965+25C>T NA RAD51C RAD51C 17 56801490 G/T 0 NM_058216.2 intron_variant NM_058216.2:c.965+29G>T NA NM_058216.2 intron_variant NM_058216.2:c.965+29G>T NA RAD51C PTCH1 9 98220627 C/T 0 NM_000264.3 intron_variant NM_000264.3:c.2888-52G>A NA NM_000264.3 intron_variant NM_000264.3:c.2888-52G>A NA PTCH1 EZH2 7 148506293 G/A 0.12 NM_004456.4 intron_variant NM_004456.4:c.2111-46C>T NA NM_004456.4 intron_variant NM_004456.4:c.2111-46C>T NA EZH2 ALK 2 29445294 G/A 0 NM_004304.4 intron_variant NM_004304.4:c.3451-20C>T NA NM_004304.4 intron_variant NM_004304.4:c.3451-20C>T NA ALK BAP1 3 52440828 A/T 0 NM_004656.3 intron_variant NM_004656.3:c.659+17T>A NA NM_004656.3 intron_variant NM_004656.3:c.659+17T>A NA BAP1 EGFR 7 55238920 GCT/G 0 NM_005228.3 intron_variant NM_005228.3:c.1919+17_1919+18delCT NA NM_005228.3 intron_variant NM_005228.3:c.1919+17_1919+18delCT NA EGFR TSC2 16 2105371 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.482-32G>A NA NM_000548.3 intron_variant NM_000548.3:c.482-32G>A NA TSC2 CEP57 11 95551110 G/T 0 NM_014679.4 intron_variant NM_014679.4:c.621+43G>T NA NM_014679.4 intron_variant NM_014679.4:c.621+43G>T NA CEP57 BLM 15 91354385 C/T 0.04 NM_000057.2 intron_variant NM_000057.2:c.3875-50C>T NA NM_000057.2 intron_variant NM_000057.2:c.3875-50C>T NA BLM NF1 17 29563085 T/TG 0 NM_001042492.2 intron_variant NM_001042492.2:c.3974+46_3974+47insG NA NM_000267.3 intron_variant NM_000267.3:c.3974+46_3974+47insG NA NF1 EGFR 7 55238940 C/G 0 NM_005228.3 intron_variant NM_005228.3:c.1919+34C>G NA NM_005228.3 intron_variant NM_005228.3:c.1919+34C>G NA EGFR GPC3 X 132888221 A/G 0 NM_001164617.1 intron_variant NM_001164617.1:c.338-18T>C NA NM_004484.3 intron_variant NM_004484.3:c.338-18T>C NA GPC3 RB1 13 48923069 T/C 0 NM_000321.2 intron_variant NM_000321.2:c.540-23T>C NA NM_000321.2 intron_variant NM_000321.2:c.540-23T>C NA RB1 APC 5 112102005 T/C 0 NM_000038.5 intron_variant NM_000038.5:c.136-18T>C NA NM_000038.5 intron_variant NM_000038.5:c.136-18T>C NA APC SMAD4 18 48591762 G/A 4.49 NM_005359.5 intron_variant NM_005359.5:c.956-31G>A NA NM_005359.5 intron_variant NM_005359.5:c.956-31G>A NA SMAD4 BRCA2 13 32906366 G/A 0 NM_000059.3 intron_variant NM_000059.3:c.794-43G>A NA NM_000059.3 intron_variant NM_000059.3:c.794-43G>A NA BRCA2 RB1 13 48936906 A/G 0 NM_000321.2 intron_variant NM_000321.2:c.719-45A>G NA NM_000321.2 intron_variant NM_000321.2:c.719-45A>G NA RB1 ERCC4 16 14024798 G/A 0 NM_005236.2 intron_variant NM_005236.2:c.973+51G>A NA NM_005236.2 intron_variant NM_005236.2:c.973+51G>A NA ERCC4 ATM 11 108141888 C/T 0 NM_000051.3 intron_variant NM_000051.3:c.2921+15C>T NA NM_000051.3 intron_variant NM_000051.3:c.2921+15C>T NA ATM FANCI 15 89843507 CAA/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.2804-23_2804-22delAA NA NM_001113378.1 intron_variant NM_001113378.1:c.2804-23_2804-22delAA NA FANCI FANCM 14 45665779 A/C 0 NM_020937.2 intron_variant NM_020937.2:c.5716+29A>C NA NM_020937.2 intron_variant NM_020937.2:c.5716+29A>C NA FANCM STK11 19 1221355 C/G 0 NM_000455.4 intron_variant NM_000455.4:c.862+16C>G NA NM_000455.4 intron_variant NM_000455.4:c.862+16C>G NA STK11 APC 5 112162961 T/C 0 NM_000038.5 intron_variant NM_000038.5:c.1548+17T>C NA NM_000038.5 intron_variant NM_000038.5:c.1548+17T>C NA APC PTCH1 9 98238300 A/T 0 NM_000264.3 intron_variant NM_000264.3:c.1728+16T>A NA NM_000264.3 intron_variant NM_000264.3:c.1728+16T>A NA PTCH1 FANCI 15 89816739 T/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.975+39T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.975+39T>C NA FANCI FANCA 16 89838266 G/C 0 NM_000135.2 intron_variant NM_000135.2:c.2015-44C>G NA NM_000135.2 intron_variant NM_000135.2:c.2015-44C>G NA FANCA RECQL4 8 145742172 C/G 1.02 NM_004260.3 intron_variant NM_004260.3:c.355-24G>C NA NM_004260.3 intron_variant NM_004260.3:c.355-24G>C NA RECQL4 DDB2 11 47254345 T/G 0 NM_000107.2 intron_variant NM_000107.2:c.457-20T>G NA NM_000107.2 intron_variant NM_000107.2:c.457-20T>G NA DDB2 AIP 11 67257475 C/T 0 NM_003977.2 intron_variant NM_003977.2:c.469-34C>T NA NM_003977.2 intron_variant NM_003977.2:c.469-34C>T NA AIP FH 1 241663701 C/T 0 NM_000143.3 intron_variant NM_000143.3:c.1390+36G>A NA NM_000143.3 intron_variant NM_000143.3:c.1390+36G>A NA FH ALK 2 29449762 C/C 0.04 NM_004304.4 intron_variant NM_004304.4:c.3067+26A>G NA NM_004304.4 intron_variant NM_004304.4:c.3067+26A>G NA ALK FANCD2 3 10106401 T/A 0 NM_033084.3 intron_variant NM_033084.3:c.2022-12T>A NA NM_033084.3 intron_variant NM_033084.3:c.2022-12T>A NA FANCD2 BRCA1 17 41243424 G/A 0 NM_007300.3 intron_variant NM_007300.3:c.4096+28C>T NA NM_007294.3 intron_variant NM_007294.3:c.4096+28C>T NA BRCA1 MLH1 3 37067097 A/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-29_1039-23delATTTTTT NA NM_000249.3 intron_variant NM_000249.3:c.1039-29_1039-23delATTTTTT NA MLH1 WRN 8 30916099 A/T 0 NM_000553.4 intron_variant NM_000553.4:c.96+40A>T NA NM_000553.4 intron_variant NM_000553.4:c.96+40A>T NA WRN CDH1 16 68853134 A/G 0 NM_004360.3 intron_variant NM_004360.3:c.1566-49A>G NA NM_004360.3 intron_variant NM_004360.3:c.1566-49A>G NA CDH1 MUTYH,TOE1 1 45805858 C/A 0 NM_001128425.1 intron_variant NM_001128425.1:c.36+33G>T NA NM_001048172.1 upstream_gene_variant NA NA MUTYH KIT 4 55564422 A/G 0 NM_000222.2 intron_variant NM_000222.2:c.338-28A>G NA NM_000222.2 intron_variant NM_000222.2:c.338-28A>G NA KIT CYLD 16 50813545 T/G 0 NM_015247.2 intron_variant NM_015247.2:c.1139-31T>G NA NM_001042412.1 intron_variant NM_001042412.1:c.1130-31T>G NA CYLD HRAS 11 532596 G/A 0.16 NM_005343.2 intron_variant NM_005343.2:c.*5+35C>T NA NM_005343.2 intron_variant NM_005343.2:c.*5+35C>T NA HRAS NF1 17 29508819 ATTT/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.730+31_730+32delTT NA NM_000267.3 intron_variant NM_000267.3:c.730+18_730+19insT NA NF1 NF1 17 29685668 G/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.8113+28G>C NA NM_000267.3 intron_variant NM_000267.3:c.8050+28G>C NA NF1 FLCN 17 17119838 C/T 0.56 NM_144997.5 intron_variant NM_144997.5:c.1177-21G>A NA NM_144997.5 intron_variant NM_144997.5:c.1177-21G>A NA FLCN BRCA2 13 32937708 G/A 0 NM_000059.3 intron_variant NM_000059.3:c.8331+38G>A NA NM_000059.3 intron_variant NM_000059.3:c.8331+38G>A NA BRCA2 FANCA 16 89866055 A/G 0 NM_000135.2 intron_variant NM_000135.2:c.793-9T>C NA NM_000135.2 intron_variant NM_000135.2:c.793-9T>C NA FANCA FLCN 17 17127470 T/T 6.53 NM_144997.5 intron_variant NM_144997.5:c.397-13G>A NA NM_144997.5 intron_variant NM_144997.5:c.397-13G>A NA FLCN EZH2 7 148526956 A/G 0 NM_004456.4 intron_variant NM_004456.4:c.364-16T>C NA NM_004456.4 intron_variant NM_004456.4:c.364-16T>C NA EZH2 APC 5 112102857 G/C 0.06 NM_000038.5 intron_variant NM_000038.5:c.221-29G>C NA NM_000038.5 intron_variant NM_000038.5:c.221-29G>C NA APC GPC3 X 132795928 A/G 0 NM_001164617.1 intron_variant NM_001164617.1:c.1362-50T>C NA NM_004484.3 intron_variant NM_004484.3:c.1293-50T>C NA GPC3 XPC 3 14208787 G/C 0 NM_004628.4 intron_variant NM_004628.4:c.537-34C>G NA NM_004628.4 intron_variant NM_004628.4:c.537-34C>G NA XPC FLCN 17 17118453 G/A 0.04 NM_144997.5 intron_variant NM_144997.5:c.1432+46C>T NA NM_144997.5 intron_variant NM_144997.5:c.1432+46C>T NA FLCN PTCH1 9 98209761 G/T 0 NM_000264.3 intron_variant NM_000264.3:c.3805-28C>A NA NM_000264.3 intron_variant NM_000264.3:c.3805-28C>A NA PTCH1 BMPR1A 10 88672151 A/T 0 NM_004329.2 intron_variant NM_004329.2:c.675+10A>T NA NM_004329.2 intron_variant NM_004329.2:c.675+10A>T NA BMPR1A FANCB X 14875962 AAAG/A 0.21 NM_152633.2 intron_variant NM_152633.2:c.1197+19_1197+21delCTT NA NM_152633.2 intron_variant NM_152633.2:c.1197+19_1197+21delCTT NA FANCB MET 7 116419026 A/G 0 NM_001127500.1 intron_variant NM_001127500.1:c.3576+15A>G NA NM_000245.2 intron_variant NM_000245.2:c.3522+15A>G NA MET BIVM-ERCC5,ERCC5 13 103504420 G/A 0 NM_001204425.1 intron_variant NM_001204425.1:c.1451-48G>A NA NM_000123.3 intron_variant NM_000123.3:c.89-48G>A NA ERCC5 TSC2 16 2138408 G/A 0.08 NM_000548.3 intron_variant NM_000548.3:c.5260-39G>A NA NM_000548.3 intron_variant NM_000548.3:c.5260-39G>A NA TSC2 SMAD4 18 48604577 G/C 0 NM_005359.5 intron_variant NM_005359.5:c.1448-49G>C NA NM_005359.5 intron_variant NM_005359.5:c.1448-49G>C NA SMAD4 TSC2 16 2138352 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.5259+26G>A NA NM_000548.3 intron_variant NM_000548.3:c.5259+26G>A NA TSC2 SMARCB1 22 24143308 C/T 0 NM_003073.3 intron_variant NM_003073.3:c.500+40C>T NA NM_003073.3 intron_variant NM_003073.3:c.500+40C>T NA SMARCB1 ATM 11 108114632 T/G 3.21 NM_000051.3 intron_variant NM_000051.3:c.497-48T>G NA NM_000051.3 intron_variant NM_000051.3:c.497-48T>G NA ATM ATM 11 108139120 G/T 3.21 NM_000051.3 intron_variant NM_000051.3:c.2639-17G>T NA NM_000051.3 intron_variant NM_000051.3:c.2639-17G>T NA ATM SMAD4 18 48584855 ATT/A 0 NM_005359.5 intron_variant NM_005359.5:c.904+45delT NA NM_005359.5 intron_variant NM_005359.5:c.904+30dupT NA SMAD4 BMPR1A 10 88676857 C/T 0 NM_004329.2 intron_variant NM_004329.2:c.676-34C>T NA NM_004329.2 intron_variant NM_004329.2:c.676-34C>T NA BMPR1A MLH1 3 37061777 T/A 0.08 NM_000249.3 intron_variant NM_000249.3:c.885-24T>A NA NM_000249.3 intron_variant NM_000249.3:c.885-24T>A NA MLH1 FANCI 15 89857966 A/G 1.92 NM_001113378.1 intron_variant NM_001113378.1:c.3816+28A>G NA NM_001113378.1 intron_variant NM_001113378.1:c.3816+28A>G NA FANCI SMAD4 18 48584855 A/ATTTT 0 NM_005359.5 intron_variant NM_005359.5:c.904+44_904+45dupTT NA NM_005359.5 intron_variant NM_005359.5:c.904+30_904+31delTT NA SMAD4 ATM 11 108123684 T/C 0 NM_000051.3 intron_variant NM_000051.3:c.1898+45T>C NA NM_000051.3 intron_variant NM_000051.3:c.1898+45T>C NA ATM TSC2 16 2107203 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.848+24G>A NA NM_000548.3 intron_variant NM_000548.3:c.848+24G>A NA TSC2 ATM 11 108127089 A/C 0.18 NM_000051.3 intron_variant NM_000051.3:c.2250+22A>C NA NM_000051.3 intron_variant NM_000051.3:c.2250+22A>C NA ATM ATM 11 108127101 A/C 0.18 NM_000051.3 intron_variant NM_000051.3:c.2250+34A>C NA NM_000051.3 intron_variant NM_000051.3:c.2250+34A>C NA ATM FANCE 6 35427556 A/A 18.95 NM_021922.2 intron_variant NM_021922.2:c.1316+19G>A NA NM_021922.2 intron_variant NM_021922.2:c.1316+19G>A NA FANCE BIVM-ERCC5,ERCC5 13 103506615 T/G 0.02 NM_001204425.1 intron_variant NM_001204425.1:c.1743-23T>G NA NM_000123.3 intron_variant NM_000123.3:c.381-23T>G NA ERCC5 ERCC3 2 128036975 G/T 0.02 NM_000122.1 intron_variant NM_000122.1:c.1528-24C>A NA NM_000122.1 intron_variant NM_000122.1:c.1528-24C>A NA ERCC3 WRN 8 30982023 G/A 0 NM_000553.4 intron_variant NM_000553.4:c.2631-15G>A NA NM_000553.4 intron_variant NM_000553.4:c.2631-15G>A NA WRN SLX4 16 3647787 G/G 7.57 NM_032444.2 intron_variant NM_032444.2:c.1366+11T>C NA NM_032444.2 intron_variant NM_032444.2:c.1366+11T>C NA SLX4 XPC 3 14208789 G/A 0 NM_004628.4 intron_variant NM_004628.4:c.537-36C>T NA NM_004628.4 intron_variant NM_004628.4:c.537-36C>T NA XPC CYLD 16 50784144 T/A 0 NM_015247.2 intron_variant NM_015247.2:c.504+31T>A NA NM_001042412.1 intron_variant NM_001042412.1:c.504+31T>A NA CYLD MSH2 2 47698243 C/A 0 NM_000251.2 intron_variant NM_000251.2:c.1759+42C>A NA NM_000251.2 intron_variant NM_000251.2:c.1759+42C>A NA MSH2 NSD1 5 176636597 C/T 0 NM_022455.4 intron_variant NM_022455.4:c.1237-40C>T NA NM_022455.4 intron_variant NM_022455.4:c.1237-40C>T NA NSD1 STK11 19 1222037 G/A 0 NM_000455.4 intron_variant NM_000455.4:c.920+32G>A NA NM_000455.4 intron_variant NM_000455.4:c.920+32G>A NA STK11 FANCD2 3 10084881 C/T 0.16 NM_033084.3 intron_variant NM_033084.3:c.989+47C>T NA NM_033084.3 intron_variant NM_033084.3:c.989+47C>T NA FANCD2 APC 5 112116467 TTTA/T 0 NM_000038.5 intron_variant NM_000038.5:c.532-14_532-12delATT NA NM_000038.5 intron_variant NM_000038.5:c.532-14_532-12delATT NA APC NF1 17 29663624 TA/TA 18.17 NM_001042492.2 intron_variant NM_001042492.2:c.6148-29_6148-28insA NA NM_000267.3 intron_variant NM_000267.3:c.6085-29_6085-28insA NA NF1 RAD51C 17 56780704 T/C 0 NM_058216.2 intron_variant NM_058216.2:c.705+14T>C NA NM_058216.2 intron_variant NM_058216.2:c.705+14T>C NA RAD51C XPA 9 100447368 C/T 0 NM_000380.3 intron_variant NM_000380.3:c.556-46G>A NA NM_000380.3 intron_variant NM_000380.3:c.556-46G>A NA XPA BRCA2 13 32906364 A/G 0 NM_000059.3 intron_variant NM_000059.3:c.794-45A>G NA NM_000059.3 intron_variant NM_000059.3:c.794-45A>G NA BRCA2 NF1 17 29687460 A/C 0.26 NM_001042492.2 intron_variant NM_001042492.2:c.8161-45A>C NA NM_000267.3 intron_variant NM_000267.3:c.8098-45A>C NA NF1 ALK 2 29940409 A/G 0 NM_004304.4 intron_variant NM_004304.4:c.787+35T>C NA NM_004304.4 intron_variant NM_004304.4:c.787+35T>C NA ALK BRCA1 17 41203170 T/C 0 NM_007300.3 intron_variant NM_007300.3:c.5341-36A>G NA NM_007294.3 intron_variant NM_007294.3:c.5278-36A>G NA BRCA1 EPCAM 2 47596750 A/AGCTGG 0 NM_002354.2 intron_variant NM_002354.2:c.76+42_76+46dupCTGGG NA NM_002354.2 intron_variant NM_002354.2:c.76+42_76+46dupCTGGG NA EPCAM FANCL 2 58459171 A/T 0 NM_001114636.1 intron_variant NM_001114636.1:c.155+18T>A NA NM_018062.3 intron_variant NM_018062.3:c.155+18T>A NA FANCL DIS3L2 2 233199497 G/A 0 NM_152383.4 intron_variant NM_152383.4:c.2394+52G>A NA NM_152383.4 intron_variant NM_152383.4:c.2394+52G>A NA DIS3L2 WRN 8 30998897 A/G 0.24 NM_000553.4 intron_variant NM_000553.4:c.2968-49A>G NA NM_000553.4 intron_variant NM_000553.4:c.2968-49A>G NA WRN BUB1B 15 40492414 G/A 0 NM_001211.5 intron_variant NM_001211.5:c.1402-31G>A NA NM_001211.5 intron_variant NM_001211.5:c.1402-31G>A NA BUB1B TSC2 16 2103467 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.336+14C>T NA NM_000548.3 intron_variant NM_000548.3:c.336+14C>T NA TSC2 NF1 17 29550598 A/T 1.22 NM_001042492.2 intron_variant NM_001042492.2:c.1845+13A>T NA NM_000267.3 intron_variant NM_000267.3:c.1845+13A>T NA NF1 NF1 17 29552074 C/T 1.22 NM_001042492.2 intron_variant NM_001042492.2:c.1846-39C>T NA NM_000267.3 intron_variant NM_000267.3:c.1846-39C>T NA NF1 NF1 17 29588690 A/G 1.22 NM_001042492.2 intron_variant NM_001042492.2:c.4578-39A>G NA NM_000267.3 intron_variant NM_000267.3:c.4515-39A>G NA NF1 NF1 17 29676104 CTTGTTTGTTTGT/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.7190-19_7190-8delGTTTGTTTGTTT NA NM_000267.3 intron_variant NM_000267.3:c.7127-19_7127-8delGTTTGTTTGTTT NA NF1 MET 7 116381117 T/A 0 NM_001127500.1 intron_variant NM_001127500.1:c.1701+38T>A NA NM_000245.2 intron_variant NM_000245.2:c.1701+38T>A NA MET BUB1B 15 40477327 G/T 0 NM_001211.5 intron_variant NM_001211.5:c.752-39G>T NA NM_001211.5 intron_variant NM_001211.5:c.752-39G>T NA BUB1B SBDS 7 66459150 T/C 0 NM_016038.2 intron_variant NM_016038.2:c.258+49A>G NA NM_016038.2 intron_variant NM_016038.2:c.258+49A>G NA SBDS FANCD2 3 10106386 A/G 0 NM_033084.3 intron_variant NM_033084.3:c.2022-27A>G NA NM_033084.3 intron_variant NM_033084.3:c.2022-27A>G NA FANCD2 WRN 8 31004859 G/T 0 NM_000553.4 intron_variant NM_000553.4:c.3460-21G>T NA NM_000553.4 intron_variant NM_000553.4:c.3460-21G>T NA WRN CDKN1C 11 2905185 C/T 0.06 NM_000076.2 intron_variant NM_000076.2:c.*6-40G>A NA NM_000076.2 intron_variant NM_000076.2:c.*6-40G>A NA CDKN1C MAX 14 65568303 A/AG 0 NM_002382.4 intron_variant NM_002382.4:c.37-14dupC NA NM_002382.4 intron_variant NM_002382.4:c.37-14dupC NA MAX HRAS 11 533646 G/A 0 NM_005343.2 intron_variant NM_005343.2:c.291-34C>T NA NM_005343.2 intron_variant NM_005343.2:c.291-34C>T NA HRAS SMAD4 18 48604575 T/G 0 NM_005359.5 intron_variant NM_005359.5:c.1448-51T>G NA NM_005359.5 intron_variant NM_005359.5:c.1448-51T>G NA SMAD4 PRKAR1A 17 66521022 A/G 0.02 NM_212471.2 intron_variant NM_212471.2:c.503-31A>G NA NM_002734.4 intron_variant NM_002734.4:c.503-31A>G NA PRKAR1A SDHB 1 17350581 GAA/G 0 NM_003000.2 intron_variant NM_003000.2:c.541-14_541-13delTT NA NM_003000.2 intron_variant NM_003000.2:c.541-14_541-13delTT NA SDHB PTCH1 9 98239170 G/C 0 NM_000264.3 intron_variant NM_000264.3:c.1504-31C>G NA NM_000264.3 intron_variant NM_000264.3:c.1504-31C>G NA PTCH1 NF1 17 29490161 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.289-43G>A NA NM_000267.3 intron_variant NM_000267.3:c.289-43G>A NA NF1 MSH2 2 47635737 G/T 0.02 NM_000251.2 intron_variant NM_000251.2:c.366+43G>T NA NM_000251.2 intron_variant NM_000251.2:c.366+43G>T NA MSH2 KIT 4 55595671 ATAGT/A 0 NM_000222.2 intron_variant NM_000222.2:c.2141+24_2141+27delTTAG NA NM_000222.2 intron_variant NM_000222.2:c.2141+24_2141+27delTTAG NA KIT FANCI 15 89803907 A/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.158-37A>C NA NM_001113378.1 intron_variant NM_001113378.1:c.158-37A>C NA FANCI PTCH1 9 98248168 G/A 0.02 NM_000264.3 intron_variant NM_000264.3:c.395-12C>T NA NM_000264.3 intron_variant NM_000264.3:c.395-12C>T NA PTCH1 DICER1 14 95598829 T/G 0 NM_177438.2 intron_variant NM_177438.2:c.307+23A>C NA NM_177438.2 intron_variant NM_177438.2:c.307+23A>C NA DICER1 DIS3L2 2 233001478 T/C 0 NM_152383.4 intron_variant NM_152383.4:c.950+49T>C NA NM_152383.4 intron_variant NM_152383.4:c.950+49T>C NA DIS3L2 MLH1 3 37067091 ATATATATAT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-35_1039-27delATATATATT NA NM_000249.3 intron_variant NM_000249.3:c.1039-35_1039-27delATATATATT NA MLH1 EXT2 11 44255845 A/G 0 NM_000401.3 intron_variant NM_000401.3:c.2034+52A>G NA NM_207122.1 intron_variant NM_207122.1:c.1935+52A>G NA EXT2 EGFR 7 55229144 G/A 0 NM_005228.3 intron_variant NM_005228.3:c.1499-48G>A NA NM_005228.3 intron_variant NM_005228.3:c.1499-48G>A NA EGFR BRCA1 17 41228659 A/G 0 NM_007300.3 intron_variant NM_007300.3:c.4424-31T>C NA NM_007294.3 intron_variant NM_007294.3:c.4358-28T>C NA BRCA1 CDC73 1 193104505 C/A 0.12 NM_024529.4 intron_variant NM_024529.4:c.308-16C>A NA NM_024529.4 intron_variant NM_024529.4:c.308-16C>A NA CDC73 FANCM 14 45650604 C/G 0.02 NM_020937.2 intron_variant NM_020937.2:c.4223-29C>G NA NM_020937.2 intron_variant NM_020937.2:c.4223-29C>G NA FANCM BLM 15 91346725 T/C 0 NM_000057.2 intron_variant NM_000057.2:c.3359-26T>C NA NM_000057.2 intron_variant NM_000057.2:c.3359-26T>C NA BLM TSC2 16 2129454 C/T 0.04 NM_000548.3 intron_variant NM_000548.3:c.3284+25C>T NA NM_000548.3 intron_variant NM_000548.3:c.3284+25C>T NA TSC2 NF1 17 29546177 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.1641+41G>A NA NM_000267.3 intron_variant NM_000267.3:c.1641+41G>A NA NF1 DICER1 14 95566068 TACACACACACACACAC/T 0 NM_177438.2 intron_variant NM_177438.2:c.4206+35_4206+48delGTGTGTGTGTGTGT NA NM_177438.2 intron_variant NM_177438.2:c.4206+48_4206+49insGT NA DICER1 HRAS 11 533418 T/G 0 NM_005343.2 intron_variant NM_005343.2:c.450+35A>C NA NM_005343.2 intron_variant NM_005343.2:c.450+35A>C NA HRAS TSC1 9 135802555 T/T 0.74 NM_000368.4 intron_variant NM_000368.4:c.210+33G>A NA NM_000368.4 intron_variant NM_000368.4:c.210+33G>A NA TSC1 FANCA 16 89846397 G/G 3.05 NM_000135.2 intron_variant NM_000135.2:c.1627-32T>C NA NM_000135.2 intron_variant NM_000135.2:c.1627-32T>C NA FANCA ATM 11 108100101 G/A 0 NM_000051.3 intron_variant NM_000051.3:c.331+51G>A NA NM_000051.3 intron_variant NM_000051.3:c.331+51G>A NA ATM TSC2 16 2136177 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.4663-17C>T NA NM_000548.3 intron_variant NM_000548.3:c.4663-17C>T NA TSC2 PTCH1 9 98212108 C/T 0 NM_000264.3 intron_variant NM_000264.3:c.3549+15G>A NA NM_000264.3 intron_variant NM_000264.3:c.3549+15G>A NA PTCH1 NF1 17 29508535 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.654+28A>G NA NM_000267.3 intron_variant NM_000267.3:c.654+28A>G NA NF1 CDH1 16 68863543 T/C 0 NM_004360.3 intron_variant NM_004360.3:c.2296-14T>C NA NM_004360.3 intron_variant NM_004360.3:c.2296-14T>C NA CDH1 BRCA2 13 32893494 A/G 0 NM_000059.3 intron_variant NM_000059.3:c.316+32A>G NA NM_000059.3 intron_variant NM_000059.3:c.316+32A>G NA BRCA2 TSC2 16 2135197 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.4570-34G>A NA NM_000548.3 intron_variant NM_000548.3:c.4570-34G>A NA TSC2 MLH1 3 37061774 AATTG/A 0 NM_000249.3 intron_variant NM_000249.3:c.885-26_885-23delATTG NA NM_000249.3 intron_variant NM_000249.3:c.885-26_885-23delATTG NA MLH1 NBN 8 90990575 T/C 0 NM_002485.4 intron_variant NM_002485.4:c.481-24A>G NA NM_002485.4 intron_variant NM_002485.4:c.481-24A>G NA NBN TP53 17 7578129 C/T 0.34 NM_000546.5 intron_variant NM_000546.5:c.672+48G>A NA NM_000546.5 intron_variant NM_000546.5:c.672+48G>A NA TP53 FANCM 14 45624072 C/G 0 NM_020937.2 intron_variant NM_020937.2:c.1309+47C>G NA NM_020937.2 intron_variant NM_020937.2:c.1309+47C>G NA FANCM MLH1 3 37061771 G/C 0 NM_000249.3 intron_variant NM_000249.3:c.885-30G>C NA NM_000249.3 intron_variant NM_000249.3:c.885-30G>C NA MLH1 BRCA1 17 41258590 T/A 0 NM_007300.3 intron_variant NM_007300.3:c.135-40A>T NA NM_007294.3 intron_variant NM_007294.3:c.135-40A>T NA BRCA1 MET 7 116381121 GTT/G 0 NM_001127500.1 intron_variant NM_001127500.1:c.1701+58delT NA NM_000245.2 intron_variant NM_000245.2:c.1701+43dupT NA MET TSC1 9 135804107 T/G 0 NM_000368.4 intron_variant NM_000368.4:c.106+47A>C NA NM_000368.4 intron_variant NM_000368.4:c.106+47A>C NA TSC1 FLCN 17 17118668 C/A 0 NM_144997.5 intron_variant NM_144997.5:c.1301-38G>T NA NM_144997.5 intron_variant NM_144997.5:c.1301-38G>T NA FLCN NF1 17 29554202 T/C 0.76 NM_001042492.2 intron_variant NM_001042492.2:c.2252-34T>C NA NM_000267.3 intron_variant NM_000267.3:c.2252-34T>C NA NF1 BAP1 3 52443779 G/A 0 NM_004656.3 intron_variant NM_004656.3:c.38-20C>T NA NM_004656.3 intron_variant NM_004656.3:c.38-20C>T NA BAP1 TP53 17 7577644 G/G 0.5 NM_000546.5 intron_variant NM_000546.5:c.673-36G>C NA NM_000546.5 intron_variant NM_000546.5:c.673-36G>C NA TP53 NSD1 5 176683904 T/C 0 NM_022455.4 intron_variant NM_022455.4:c.4766-48T>C NA NM_022455.4 intron_variant NM_022455.4:c.4766-48T>C NA NSD1 HNF1A 12 121437215 C/T 0 NM_000545.5 intron_variant NM_000545.5:c.1623+23C>T NA NM_000545.5 intron_variant NM_000545.5:c.1623+23C>T NA HNF1A XPC 3 14206298 G/A 0.02 NM_004628.4 intron_variant NM_004628.4:c.900+15C>T NA NM_004628.4 intron_variant NM_004628.4:c.900+15C>T NA XPC RET 10 43609137 G/A 0.02 NM_020975.4 intron_variant NM_020975.4:c.1879+14G>A NA NM_020975.4 intron_variant NM_020975.4:c.1879+14G>A NA RET HNF1A 12 121438827 G/A 0 NM_000545.5 intron_variant NM_000545.5:c.1769-41G>A NA NM_000545.5 intron_variant NM_000545.5:c.1769-41G>A NA HNF1A WRN 8 30982560 TTCTC/T 0 NM_000553.4 intron_variant NM_000553.4:c.2825+46_2825+49delCTCT NA NM_000553.4 intron_variant NM_000553.4:c.2825+46_2825+49delCTCT NA WRN FANCA 16 89862278 T/C 0 NM_000135.2 intron_variant NM_000135.2:c.1006+36A>G NA NM_000135.2 intron_variant NM_000135.2:c.1006+36A>G NA FANCA PTCH1 9 98241237 T/C 0 NM_000264.3 intron_variant NM_000264.3:c.1215+45A>G NA NM_000264.3 intron_variant NM_000264.3:c.1215+45A>G NA PTCH1 BIVM-ERCC5,ERCC5 13 103514350 A/G 0.18 NM_001204425.1 intron_variant NM_001204425.1:c.2243-30A>G NA NM_000123.3 intron_variant NM_000123.3:c.881-30A>G NA ERCC5 SLX4 16 3648049 C/G 0 NM_032444.2 intron_variant NM_032444.2:c.1164-49G>C NA NM_032444.2 intron_variant NM_032444.2:c.1164-49G>C NA SLX4 PMS1 2 190682952 TAAAC/TAAAC 0 NM_000534.4 intron_variant NM_000534.4:c.582+49_582+52dupACAA NA NM_000534.4 intron_variant NM_000534.4:c.582+49_582+52dupACAA NA PMS1 MET 7 116415206 C/T 0 NM_001127500.1 intron_variant NM_001127500.1:c.3313+41C>T NA NM_000245.2 intron_variant NM_000245.2:c.3259+41C>T NA MET DICER1 14 95591044 A/G 0 NM_177438.2 intron_variant NM_177438.2:c.904-39T>C NA NM_177438.2 intron_variant NM_177438.2:c.904-39T>C NA DICER1 NF1 17 29563068 GTTTTTTGTTTTTTT/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.3974+40_3974+53delTTTTTTTTTTGTTT NA NM_000267.3 intron_variant NM_000267.3:c.3974+40_3974+53delTTTTTTTTTTGTTT NA NF1 RB1 13 48923061 G/GT 0 NM_000321.2 intron_variant NM_000321.2:c.540-23dupT NA NM_000321.2 intron_variant NM_000321.2:c.540-23dupT NA RB1 TSC1 9 135804139 T/C 1.4 NM_000368.4 intron_variant NM_000368.4:c.106+15A>G NA NM_000368.4 intron_variant NM_000368.4:c.106+15A>G NA TSC1 FH 1 241669264 G/C 0 NM_000143.3 intron_variant NM_000143.3:c.904+39C>G NA NM_000143.3 intron_variant NM_000143.3:c.904+39C>G NA FH KIT 4 55598211 A/ATTT 0 NM_000222.2 intron_variant NM_000222.2:c.2361+71_2361+72dupTT NA NM_000222.2 intron_variant NM_000222.2:c.2361+48delT NA KIT BIVM-ERCC5,ERCC5 13 103514354 T/G 0 NM_001204425.1 intron_variant NM_001204425.1:c.2243-26T>G NA NM_000123.3 intron_variant NM_000123.3:c.881-26T>G NA ERCC5 MAX 14 65560385 G/A 0 NM_002382.4 intron_variant NM_002382.4:c.171+41C>T NA NM_002382.4 intron_variant NM_002382.4:c.171+41C>T NA MAX FANCL 2 58392837 C/G 0 NM_001114636.1 intron_variant NM_001114636.1:c.706+22G>C NA NM_018062.3 intron_variant NM_018062.3:c.691+22G>C NA FANCL NSD1 5 176671186 T/C 0 NM_022455.4 intron_variant NM_022455.4:c.4303-10T>C NA NM_022455.4 intron_variant NM_022455.4:c.4303-10T>C NA NSD1 ATM 11 108151707 T/TTA 0 NM_000051.3 intron_variant NM_000051.3:c.3403-15_3403-14insTA NA NM_000051.3 intron_variant NM_000051.3:c.3403-15_3403-14insTA NA ATM ALK 2 29498236 G/A 0 NM_004304.4 intron_variant NM_004304.4:c.1912+32C>T NA NM_004304.4 intron_variant NM_004304.4:c.1912+32C>T NA ALK MET 7 116381097 C/T 0 NM_001127500.1 intron_variant NM_001127500.1:c.1701+18C>T NA NM_000245.2 intron_variant NM_000245.2:c.1701+18C>T NA MET DICER1 14 95598028 G/A 0 NM_177438.2 intron_variant NM_177438.2:c.308-52C>T NA NM_177438.2 intron_variant NM_177438.2:c.308-52C>T NA DICER1 TSC2 16 2123001 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.2355+17G>A NA NM_000548.3 intron_variant NM_000548.3:c.2355+17G>A NA TSC2 PTEN 10 89717812 A/T 0.02 NM_000314.4 intron_variant NM_000314.4:c.801+36A>T NA NM_000314.4 intron_variant NM_000314.4:c.801+36A>T NA PTEN EGFR 7 55221665 C/T 0 NM_005228.3 intron_variant NM_005228.3:c.748-39C>T NA NM_005228.3 intron_variant NM_005228.3:c.748-39C>T NA EGFR NF1 17 29563085 TTG/TG 0 NM_001042492.2 intron_variant NM_001042492.2:c.3974+46_3974+47insG NA NM_000267.3 intron_variant NM_000267.3:c.3974+47_3974+48insGT NA NF1 RET 10 43619079 G/A 0 NM_020975.4 intron_variant NM_020975.4:c.2802-40G>A NA NM_020975.4 intron_variant NM_020975.4:c.2802-40G>A NA RET BRCA1 17 41226338 G/T 0 NM_007300.3 intron_variant NM_007300.3:c.4738+10C>A NA NM_007294.3 intron_variant NM_007294.3:c.4675+10C>A NA BRCA1 BRIP1 17 59878603 C/T 0 NM_032043.2 intron_variant NM_032043.2:c.1140+11G>A NA NM_032043.2 intron_variant NM_032043.2:c.1140+11G>A NA BRIP1 PTCH1 9 98242891 C/T 0 NM_000264.3 intron_variant NM_000264.3:c.747-21G>A NA NM_000264.3 intron_variant NM_000264.3:c.747-21G>A NA PTCH1 BUB1B 15 40501994 C/T 0 NM_001211.5 intron_variant NM_001211.5:c.2284+18C>T NA NM_001211.5 intron_variant NM_001211.5:c.2284+18C>T NA BUB1B PMS1 2 190682948 A/G 0.24 NM_000534.4 intron_variant NM_000534.4:c.582+42A>G NA NM_000534.4 intron_variant NM_000534.4:c.582+42A>G NA PMS1 DIS3L2 2 233199056 C/T 0 NM_152383.4 intron_variant NM_152383.4:c.2159-23C>T NA NM_152383.4 intron_variant NM_152383.4:c.2159-23C>T NA DIS3L2 BAP1 3 52440823 A/T 0 NM_004656.3 intron_variant NM_004656.3:c.659+22T>A NA NM_004656.3 intron_variant NM_004656.3:c.659+22T>A NA BAP1 WRN 8 30946519 T/C 0 NM_000553.4 intron_variant NM_000553.4:c.1652+38T>C NA NM_000553.4 intron_variant NM_000553.4:c.1652+38T>C NA WRN TSC1 9 135782804 C/T 0.04 NM_000368.4 intron_variant NM_000368.4:c.1264-47G>A NA NM_000368.4 intron_variant NM_000368.4:c.1264-47G>A NA TSC1 FANCM 14 45652938 A/T 1.3 NM_020937.2 intron_variant NM_020937.2:c.4387-39A>T NA NM_020937.2 intron_variant NM_020937.2:c.4387-39A>T NA FANCM DICER1 14 95571626 C/T 0 NM_177438.2 intron_variant NM_177438.2:c.3094-43G>A NA NM_177438.2 intron_variant NM_177438.2:c.3094-43G>A NA DICER1 MET 7 116397669 T/C 0 NM_001127500.1 intron_variant NM_001127500.1:c.1966-23T>C NA NM_000245.2 intron_variant NM_000245.2:c.1966-23T>C NA MET MSH6 2 48030859 C/A 0 NM_000179.2 intron_variant NM_000179.2:c.3438+35C>A NA NM_000179.2 intron_variant NM_000179.2:c.3438+35C>A NA MSH6 FANCC 9 98009690 A/G 0 NM_000136.2 intron_variant NM_000136.2:c.250+24T>C NA NM_000136.2 intron_variant NM_000136.2:c.250+24T>C NA FANCC EZH2 7 148523744 A/C 0 NM_004456.4 intron_variant NM_004456.4:c.729-20T>G NA NM_004456.4 intron_variant NM_004456.4:c.729-20T>G NA EZH2 BLM 15 91341369 T/G 0 NM_000057.2 intron_variant NM_000057.2:c.3211-51T>G NA NM_000057.2 intron_variant NM_000057.2:c.3211-51T>G NA BLM EPCAM 2 47607152 T/G 0 NM_002354.2 intron_variant NM_002354.2:c.858+44T>G NA NM_002354.2 intron_variant NM_002354.2:c.858+44T>G NA EPCAM NF1 17 29541620 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.1527+17G>A NA NM_000267.3 intron_variant NM_000267.3:c.1527+17G>A NA NF1 SMAD4 18 48573689 G/G 1.2 NM_005359.5 intron_variant NM_005359.5:c.249+24A>G NA NM_005359.5 intron_variant NM_005359.5:c.249+24A>G NA SMAD4 ALK 2 29462716 G/A 0 NM_004304.4 intron_variant NM_004304.4:c.2205-20C>T NA NM_004304.4 intron_variant NM_004304.4:c.2205-20C>T NA ALK PRKAR1A 17 66522082 A/G 0 NM_212471.2 intron_variant NM_212471.2:c.708+29A>G NA NM_002734.4 intron_variant NM_002734.4:c.708+29A>G NA PRKAR1A BMPR1A 10 88683111 A/C 0 NM_004329.2 intron_variant NM_004329.2:c.1343-22A>C NA NM_004329.2 intron_variant NM_004329.2:c.1343-22A>C NA BMPR1A DIS3L2 2 232894644 T/C 0.46 NM_152383.4 intron_variant NM_152383.4:c.265-45T>C NA NM_152383.4 intron_variant NM_152383.4:c.265-45T>C NA DIS3L2 EPCAM 2 47602353 A/G 1.98 NM_002354.2 intron_variant NM_002354.2:c.426-20A>G NA NM_002354.2 intron_variant NM_002354.2:c.426-20A>G NA EPCAM ERCC2 19 45860830 C/CG 0 NM_000400.3 intron_variant NM_000400.3:c.1308-30dupC NA NM_000400.3 intron_variant NM_000400.3:c.1308-30dupC NA ERCC2 TP53 17 7577487 G/A 0 NM_000546.5 intron_variant NM_000546.5:c.782+12C>T NA NM_000546.5 intron_variant NM_000546.5:c.782+12C>T NA TP53 GPC3 X 132826572 T/C 0.03 NM_001164617.1 intron_variant NM_001164617.1:c.1236-50A>G NA NM_004484.3 intron_variant NM_004484.3:c.1167-50A>G NA GPC3 BUB1B 15 40500788 G/A 0 NM_001211.5 intron_variant NM_001211.5:c.2010-50G>A NA NM_001211.5 intron_variant NM_001211.5:c.2010-50G>A NA BUB1B FANCI 15 89848498 A/G 0 NM_001113378.1 intron_variant NM_001113378.1:c.3186+25A>G NA NM_001113378.1 intron_variant NM_001113378.1:c.3186+25A>G NA FANCI ATM,C11ORF65 11 108201178 C/A 0 NM_000051.3 intron_variant NM_000051.3:c.7515+30C>A NA NM_000051.3 intron_variant NM_000051.3:c.7515+30C>A NA ATM EZH2 7 148526807 G/A 0.08 NM_004456.4 intron_variant NM_004456.4:c.484+13C>T NA NM_004456.4 intron_variant NM_004456.4:c.484+13C>T NA EZH2 FANCI 15 89834974 T/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.1992+29T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.1992+29T>C NA FANCI TSC2 16 2112481 G/A 0 NM_000548.3 intron_variant NM_000548.3:c.1258-17G>A NA NM_000548.3 intron_variant NM_000548.3:c.1258-17G>A NA TSC2 FANCA 16 89839659 G/A 0.02 NM_000135.2 intron_variant NM_000135.2:c.2014+20C>T NA NM_000135.2 intron_variant NM_000135.2:c.2014+20C>T NA FANCA NF1 17 29563085 T/TTG 0 NM_001042492.2 intron_variant NM_001042492.2:c.3974+47_3974+48insGT NA NM_000267.3 intron_variant NM_000267.3:c.3974+47_3974+48insGT NA NF1 FANCI 15 89790851 C/G 0 NM_001113378.1 intron_variant NM_001113378.1:c.-19-9C>G NA NM_001113378.1 intron_variant NM_001113378.1:c.-19-9C>G NA FANCI SLX4 16 3647749 G/A 0 NM_032444.2 intron_variant NM_032444.2:c.1366+49C>T NA NM_032444.2 intron_variant NM_032444.2:c.1366+49C>T NA SLX4 FANCD2 3 10091228 T/A 0 NM_033084.3 intron_variant NM_033084.3:c.1545+39T>A NA NM_033084.3 intron_variant NM_033084.3:c.1545+39T>A NA FANCD2 TSC2 16 2103321 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.226-22C>T NA NM_000548.3 intron_variant NM_000548.3:c.226-22C>T NA TSC2 CYLD 16 50816219 T/A 0 NM_015247.2 intron_variant NM_015247.2:c.1685-17T>A NA NM_001042412.1 intron_variant NM_001042412.1:c.1676-17T>A NA CYLD NF2 22 30054128 C/T 0 NM_000268.3 intron_variant NM_000268.3:c.600-50C>T NA NM_000268.3 intron_variant NM_000268.3:c.600-50C>T NA NF2 NF1 17 29554652 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.2409+28G>A NA NM_000267.3 intron_variant NM_000267.3:c.2409+28G>A NA NF1 FANCD2 3 10106017 TTTTG/T 0 NM_033084.3 intron_variant NM_033084.3:c.1948-14_1948-11delTTTG NA NM_033084.3 intron_variant NM_033084.3:c.1948-14_1948-11delTTTG NA FANCD2 MLH1 3 37089991 C/G 0 NM_000249.3 intron_variant NM_000249.3:c.1897-17C>G NA NM_000249.3 intron_variant NM_000249.3:c.1897-17C>G NA MLH1 EGFR 7 55268126 C/T 0 NM_005228.3 intron_variant NM_005228.3:c.2946+20C>T NA NM_005228.3 intron_variant NM_005228.3:c.2946+20C>T NA EGFR FANCI 15 89819902 C/T 0 NM_001113378.1 intron_variant NM_001113378.1:c.1113-40C>T NA NM_001113378.1 intron_variant NM_001113378.1:c.1113-40C>T NA FANCI MLH1 3 37067099 ATTTTTT/A 0 NM_000249.3 intron_variant NM_000249.3:c.1039-8delT NA NM_000249.3 intron_variant NM_000249.3:c.1039-28_1039-27insTTTTT NA MLH1 NF1 17 29663614 GTT/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.6148-28delT NA NM_000267.3 intron_variant NM_000267.3:c.6085-38dupT NA NF1 CHEK2 22 29092870 C/T 0.02 NM_001005735.1 intron_variant NM_001005735.1:c.1224+19G>A NA NM_007194.3 intron_variant NM_007194.3:c.1095+19G>A NA CHEK2 WRN 8 30948093 C/C 0 NM_000553.4 intron_variant NM_000553.4:c.1720+47_1720+48delTA NA NM_000553.4 intron_variant NM_000553.4:c.1720+47_1720+48delTA NA WRN SLX4 16 3644404 A/A 5.45 NM_032444.2 intron_variant NM_032444.2:c.2160+50C>T NA NM_032444.2 intron_variant NM_032444.2:c.2160+50C>T NA SLX4 SLX4 16 3645583 T/T 5.45 NM_032444.2 intron_variant NM_032444.2:c.2013+23G>A NA NM_032444.2 intron_variant NM_032444.2:c.2013+23G>A NA SLX4 SLX4 16 3650970 A/A 5.89 NM_032444.2 intron_variant NM_032444.2:c.1163+10C>T NA NM_032444.2 intron_variant NM_032444.2:c.1163+10C>T NA SLX4 FANCL 2 58449041 C/C 0 NM_001114636.1 intron_variant NM_001114636.1:c.374+35delT NA NM_018062.3 intron_variant NM_018062.3:c.374+35delT NA FANCL HRAS 11 532611 G/A 0 NM_005343.2 intron_variant NM_005343.2:c.*5+20C>T NA NM_005343.2 intron_variant NM_005343.2:c.*5+20C>T NA HRAS FANCA 16 89831260 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.2778+38C>T NA NM_000135.2 intron_variant NM_000135.2:c.2778+38C>T NA FANCA FANCC 9 97877010 T/G 0 NM_000136.2 intron_variant NM_000136.2:c.1073-18A>C NA NM_000136.2 intron_variant NM_000136.2:c.1073-18A>C NA FANCC MLH1 3 37067101 T/A 20.81 NM_000249.3 intron_variant NM_000249.3:c.1039-27T>A NA NM_000249.3 intron_variant NM_000249.3:c.1039-27T>A NA MLH1 WRN 8 30982168 T/C 0 NM_000553.4 intron_variant NM_000553.4:c.2732+29T>C NA NM_000553.4 intron_variant NM_000553.4:c.2732+29T>C NA WRN FANCA 16 89845335 G/A 0 NM_000135.2 intron_variant NM_000135.2:c.1776+16C>T NA NM_000135.2 intron_variant NM_000135.2:c.1776+16C>T NA FANCA TP53 17 7578142 C/A 0 NM_000546.5 intron_variant NM_000546.5:c.672+35G>T NA NM_000546.5 intron_variant NM_000546.5:c.672+35G>T NA TP53 WRN 8 30954413 T/C 0 NM_000553.4 intron_variant NM_000553.4:c.1981+47T>C NA NM_000553.4 intron_variant NM_000553.4:c.1981+47T>C NA WRN NBN 8 90960043 G/A 2.4 NM_002485.4 intron_variant NM_002485.4:c.1914+9C>T NA NM_002485.4 intron_variant NM_002485.4:c.1914+9C>T NA NBN DICER1 14 95566068 TACACACAC/T 0 NM_177438.2 intron_variant NM_177438.2:c.4206+43_4206+48delGTGTGT NA NM_177438.2 intron_variant NM_177438.2:c.4206+48_4206+49insGT NA DICER1 ATM,C11ORF65 11 108198325 A/G 0 NM_000051.3 intron_variant NM_000051.3:c.6976-47A>G NA NM_000051.3 intron_variant NM_000051.3:c.6976-47A>G NA ATM PMS1 2 190718651 A/G 0 NM_000534.4 intron_variant NM_000534.4:c.823-14A>G NA NM_000534.4 intron_variant NM_000534.4:c.823-14A>G NA PMS1 MLH1 3 37067095 A/T 0 NM_000249.3 intron_variant NM_000249.3:c.1039-33A>T NA NM_000249.3 intron_variant NM_000249.3:c.1039-33A>T NA MLH1 FANCE 6 35426240 A/AC 0 NM_021922.2 intron_variant NM_021922.2:c.1113+23_1113+24insC NA NM_021922.2 intron_variant NM_021922.2:c.1113+23_1113+24insC NA FANCE PTCH1 9 98212093 C/T 0.04 NM_000264.3 intron_variant NM_000264.3:c.3549+30G>A NA NM_000264.3 intron_variant NM_000264.3:c.3549+30G>A NA PTCH1 BUB1B 15 40494692 T/G 0.1 NM_001211.5 intron_variant NM_001211.5:c.1628+26T>G NA NM_001211.5 intron_variant NM_001211.5:c.1628+26T>G NA BUB1B ATM,C11ORF65 11 108188088 AC/A 0 NM_000051.3 intron_variant NM_000051.3:c.6199-11delC NA NM_000051.3 intron_variant NM_000051.3:c.6199-11delC NA ATM SLX4 16 3642663 C/T 0 NM_032444.2 intron_variant NM_032444.2:c.2327+37G>A NA NM_032444.2 intron_variant NM_032444.2:c.2327+37G>A NA SLX4 CDH1 16 68853375 G/A 1.28 NM_004360.3 intron_variant NM_004360.3:c.1711+47G>A NA NM_004360.3 intron_variant NM_004360.3:c.1711+47G>A NA CDH1 TP53 17 7578159 C/G 0.14 NM_000546.5 intron_variant NM_000546.5:c.672+18G>C NA NM_000546.5 intron_variant NM_000546.5:c.672+18G>C NA TP53 BRCA2 13 32921057 A/G 0.02 NM_000059.3 intron_variant NM_000059.3:c.7007+24A>G NA NM_000059.3 intron_variant NM_000059.3:c.7007+24A>G NA BRCA2 STK11 19 1226442 C/G 0 NM_000455.4 intron_variant NM_000455.4:c.1109-11C>G NA NM_000455.4 intron_variant NM_000455.4:c.1109-11C>G NA STK11 CHEK2 22 29121184 T/G 0 NM_001005735.1 intron_variant NM_001005735.1:c.573+47A>C NA NM_007194.3 intron_variant NM_007194.3:c.444+47A>C NA CHEK2 NF1 17 29562893 T/C 0 NM_001042492.2 intron_variant NM_001042492.2:c.3871-43T>C NA NM_000267.3 intron_variant NM_000267.3:c.3871-43T>C NA NF1 ERCC2 19 45860705 T/C 0 NM_000400.3 intron_variant NM_000400.3:c.1377+27A>G NA NM_000400.3 intron_variant NM_000400.3:c.1377+27A>G NA ERCC2 TSC2 16 2134208 C/T 0 NM_000548.3 intron_variant NM_000548.3:c.4006-21C>T NA NM_000548.3 intron_variant NM_000548.3:c.4006-21C>T NA TSC2 SMAD4 18 48573689 A/G 1.2 NM_005359.5 intron_variant NM_005359.5:c.249+24A>G NA NM_005359.5 intron_variant NM_005359.5:c.249+24A>G NA SMAD4 DICER1 14 95560541 AC/A 0 NM_177438.2 intron_variant NM_177438.2:c.5096-49delG NA NM_177438.2 intron_variant NM_177438.2:c.5096-49delG NA DICER1 CDH1 16 68845553 T/C 0.02 NM_004360.3 intron_variant NM_004360.3:c.833-34T>C NA NM_004360.3 intron_variant NM_004360.3:c.833-34T>C NA CDH1 DICER1 14 95574135 C/T 0 NM_177438.2 intron_variant NM_177438.2:c.2651-37G>A NA NM_177438.2 intron_variant NM_177438.2:c.2651-37G>A NA DICER1 FANCI 15 89850812 T/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.3592-32T>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3592-32T>C NA FANCI HRAS 11 533404 C/T 0.08 NM_005343.2 intron_variant NM_005343.2:c.450+49G>A NA NM_005343.2 intron_variant NM_005343.2:c.450+49G>A NA HRAS RET 10 43619095 C/T 0.24 NM_020975.4 intron_variant NM_020975.4:c.2802-24C>T NA NM_020975.4 intron_variant NM_020975.4:c.2802-24C>T NA RET PMS2 7 6018202 G/A 1.04 NM_000535.5 intron_variant NM_000535.5:c.2275+25C>T NA NM_000535.5 intron_variant NM_000535.5:c.2275+25C>T NA PMS2 PALB2 16 23646141 TTCA/T 0 NM_024675.3 intron_variant NM_024675.3:c.1684+39_1684+41delTGA NA NM_024675.3 intron_variant NM_024675.3:c.1684+39_1684+41delTGA NA PALB2 EGFR 7 55260565 G/A 0 NM_005228.3 intron_variant NM_005228.3:c.2701+31G>A NA NM_005228.3 intron_variant NM_005228.3:c.2701+31G>A NA EGFR CDC73 1 193099273 T/A 0.02 NM_024529.4 intron_variant NM_024529.4:c.238-31T>A NA NM_024529.4 intron_variant NM_024529.4:c.238-31T>A NA CDC73 ALK 2 29443749 G/T 1.74 NM_004304.4 intron_variant NM_004304.4:c.3516-48C>A NA NM_004304.4 intron_variant NM_004304.4:c.3516-48C>A NA ALK CYLD 16 50809101 G/A 0 NM_015247.2 intron_variant NM_015247.2:c.922+16G>A NA NM_001042412.1 intron_variant NM_001042412.1:c.914-989G>A NA CYLD STK11 19 1220517 TA/T 0 NM_000455.4 intron_variant NM_000455.4:c.597+14delA NA NM_000455.4 intron_variant NM_000455.4:c.597+14delA NA STK11 EGFR 7 55240860 G/A 0.02 NM_005228.3 intron_variant NM_005228.3:c.2061+43G>A NA NM_005228.3 intron_variant NM_005228.3:c.2061+43G>A NA EGFR RET 10 43613947 T/C 0 NM_020975.4 intron_variant NM_020975.4:c.2392+19T>C NA NM_020975.4 intron_variant NM_020975.4:c.2392+19T>C NA RET RET 10 43596204 C/T 0 NM_020975.4 intron_variant NM_020975.4:c.337+34C>T NA NM_020975.4 intron_variant NM_020975.4:c.337+34C>T NA RET PMS1 2 190656705 A/C 0 NM_000534.4 intron_variant NM_000534.4:c.132+38A>C NA NM_000534.4 intron_variant NM_000534.4:c.132+38A>C NA PMS1 CYLD 16 50813997 G/T 7.89 NM_015247.2 intron_variant NM_015247.2:c.1518+42G>T NA NM_001042412.1 intron_variant NM_001042412.1:c.1509+42G>T NA CYLD PALB2 16 23640642 T/C 0.1 NM_024675.3 intron_variant NM_024675.3:c.2515-46A>G NA NM_024675.3 intron_variant NM_024675.3:c.2515-46A>G NA PALB2 HNF1A 12 121416922 C/T 0 NM_000545.5 intron_variant NM_000545.5:c.326+25C>T NA NM_000545.5 intron_variant NM_000545.5:c.326+25C>T NA HNF1A BUB1B 15 40500794 A/G 0 NM_001211.5 intron_variant NM_001211.5:c.2010-44A>G NA NM_001211.5 intron_variant NM_001211.5:c.2010-44A>G NA BUB1B BRCA2 13 32900606 T/C 0 NM_000059.3 intron_variant NM_000059.3:c.517-30T>C NA NM_000059.3 intron_variant NM_000059.3:c.517-30T>C NA BRCA2 EGFR 7 55219082 ATG/A 0 NM_005228.3 intron_variant NM_005228.3:c.628+32_628+33delTG NA NM_005228.3 intron_variant NM_005228.3:c.628+32_628+33delTG NA EGFR CHEK2 22 29129980 G/A 0.02 NM_001005735.1 intron_variant NM_001005735.1:c.319+411C>T NA NM_007194.3 intron_variant NM_007194.3:c.319+411C>T NA CHEK2 BAP1 3 52443697 A/G 0 NM_004656.3 intron_variant NM_004656.3:c.67+33T>C NA NM_004656.3 intron_variant NM_004656.3:c.67+33T>C NA BAP1 TSC1 9 135777118 G/C 0 NM_000368.4 intron_variant NM_000368.4:c.2392-32C>G NA NM_000368.4 intron_variant NM_000368.4:c.2392-32C>G NA TSC1 FANCM 14 45652950 T/C 0 NM_020937.2 intron_variant NM_020937.2:c.4387-27T>C NA NM_020937.2 intron_variant NM_020937.2:c.4387-27T>C NA FANCM FANCA 16 89882265 G/T 0 NM_000135.2 intron_variant NM_000135.2:c.189+20C>A NA NM_000135.2 intron_variant NM_000135.2:c.189+20C>A NA FANCA EXT1 8 118842444 C/T 0 NM_000127.2 intron_variant NM_000127.2:c.1284+25G>A NA NM_000127.2 intron_variant NM_000127.2:c.1284+25G>A NA EXT1 TSC2 16 2106162 AG/A 0 NM_000548.3 intron_variant NM_000548.3:c.600-34delG NA NM_000548.3 intron_variant NM_000548.3:c.600-34delG NA TSC2 PMS2 7 6017189 C/C 0.44 NM_000535.5 intron_variant NM_000535.5:c.2445+30A>G NA NM_000535.5 intron_variant NM_000535.5:c.2445+30A>G NA PMS2 DIS3L2 2 233199039 CCCCAGGCT/C 0 NM_152383.4 intron_variant NM_152383.4:c.2159-35_2159-28delGGCTCCCA NA NM_152383.4 intron_variant NM_152383.4:c.2159-35_2159-28delGGCTCCCA NA DIS3L2 BUB1B 15 40504859 A/C 0 NM_001211.5 intron_variant NM_001211.5:c.2535+10A>C NA NM_001211.5 intron_variant NM_001211.5:c.2535+10A>C NA BUB1B MLH1 3 37061779 TTC/T 0 NM_000249.3 intron_variant NM_000249.3:c.885-16_885-15delCT NA NM_000249.3 intron_variant NM_000249.3:c.885-16_885-15delCT NA MLH1 BRCA1 17 41246889 C/A 0 NM_007300.3 intron_variant NM_007300.3:c.671-12G>T NA NM_007294.3 intron_variant NM_007294.3:c.671-12G>T NA BRCA1 MSH6 2 48033568 C/T 0.04 NM_000179.2 intron_variant NM_000179.2:c.3802-23C>T NA NM_000179.2 intron_variant NM_000179.2:c.3802-23C>T NA MSH6 FANCI 15 89857813 A/C 0 NM_001113378.1 intron_variant NM_001113378.1:c.3721-30A>C NA NM_001113378.1 intron_variant NM_001113378.1:c.3721-30A>C NA FANCI FANCD2,FANCD2OS 3 10127470 A/T 0.02 NM_033084.3 intron_variant NM_033084.3:c.3225-26A>T NA NM_033084.3 intron_variant NM_033084.3:c.3225-26A>T NA FANCD2 BLM 15 91346726 C/G 0 NM_000057.2 intron_variant NM_000057.2:c.3359-25C>G NA NM_000057.2 intron_variant NM_000057.2:c.3359-25C>G NA BLM CYLD 16 50820880 G/A 0 NM_015247.2 intron_variant NM_015247.2:c.2041+23G>A NA NM_001042412.1 intron_variant NM_001042412.1:c.2032+23G>A NA CYLD MSH6 2 48033908 T/A 0.08 NM_000179.2 intron_variant NM_000179.2:c.4002-10T>A NA NM_000179.2 intron_variant NM_000179.2:c.4002-10T>A NA MSH6 KIT 4 55603037 C/A 0 NM_000222.2 intron_variant NM_000222.2:c.2696+51C>A NA NM_000222.2 intron_variant NM_000222.2:c.2696+51C>A NA KIT CDH1 16 68863542 C/G 0 NM_004360.3 intron_variant NM_004360.3:c.2296-15C>G NA NM_004360.3 intron_variant NM_004360.3:c.2296-15C>G NA CDH1 PRKAR1A 17 66520244 T/C 1.12 NM_212471.2 intron_variant NM_212471.2:c.502+26T>C NA NM_002734.4 intron_variant NM_002734.4:c.502+26T>C NA PRKAR1A NSD1 5 176673812 C/A 0 NM_022455.4 intron_variant NM_022455.4:c.4497+15C>A NA NM_022455.4 intron_variant NM_022455.4:c.4497+15C>A NA NSD1 MSH6 2 48030528 G/GA 0 NM_000179.2 intron_variant NM_000179.2:c.3173-29dupA NA NM_000179.2 intron_variant NM_000179.2:c.3173-29dupA NA MSH6 BUB1B 15 40505483 C/T 0 NM_001211.5 intron_variant NM_001211.5:c.2536-50C>T NA NM_001211.5 intron_variant NM_001211.5:c.2536-50C>T NA BUB1B PMS2 7 6035313 T/C 0.02 NM_000535.5 intron_variant NM_000535.5:c.804-49A>G NA NM_000535.5 intron_variant NM_000535.5:c.804-49A>G NA PMS2 ERCC2 19 45861001 C/A 0 NM_000400.3 intron_variant NM_000400.3:c.1238-44G>T NA NM_000400.3 intron_variant NM_000400.3:c.1238-44G>T NA ERCC2 BIVM-ERCC5,ERCC5 13 103504451 A/G 0 NM_001204425.1 intron_variant NM_001204425.1:c.1451-17A>G NA NM_000123.3 intron_variant NM_000123.3:c.89-17A>G NA ERCC5 FANCA 16 89828456 T/C 0.02 NM_000135.2 intron_variant NM_000135.2:c.2779-26A>G NA NM_000135.2 intron_variant NM_000135.2:c.2779-26A>G NA FANCA DICER1 14 95566108 CACACAA/CACACAA 0 NM_177438.2 intron_variant NM_177438.2:c.4206+8_4206+9insTTGTGT NA NM_177438.2 intron_variant NM_177438.2:c.4206+8_4206+9insTTGTGT NA DICER1 RECQL4 8 145742185 G/A 0.7 NM_004260.3 intron_variant NM_004260.3:c.355-37C>T NA NM_004260.3 intron_variant NM_004260.3:c.355-37C>T NA RECQL4 FANCA 16 89858494 G/A 0.02 NM_000135.2 intron_variant NM_000135.2:c.1084-18C>T NA NM_000135.2 intron_variant NM_000135.2:c.1084-18C>T NA FANCA NF1 17 29528540 T/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.1260+37T>A NA NM_000267.3 intron_variant NM_000267.3:c.1260+37T>A NA NF1 RAD51C 17 56787203 A/G 0 NM_058216.2 intron_variant NM_058216.2:c.706-17A>G NA NM_058216.2 intron_variant NM_058216.2:c.706-17A>G NA RAD51C SUFU 10 104353859 G/A 0 NM_016169.3 intron_variant NM_016169.3:c.756+37G>A NA NM_016169.3 intron_variant NM_016169.3:c.756+37G>A NA SUFU NF1 17 29587370 A/T 0 NM_001042492.2 intron_variant NM_001042492.2:c.4431-17A>T NA NM_000267.3 intron_variant NM_000267.3:c.4368-17A>T NA NF1 NF1 17 29587553 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.4577+20G>A NA NM_000267.3 intron_variant NM_000267.3:c.4514+20G>A NA NF1 FH 1 241677035 A/A 3.57 NM_000143.3 intron_variant NM_000143.3:c.268-22A>T NA NM_000143.3 intron_variant NM_000143.3:c.268-22A>T NA FH RAD51C 17 56780547 G/T 0 NM_058216.2 intron_variant NM_058216.2:c.572-10G>T NA NM_058216.2 intron_variant NM_058216.2:c.572-10G>T NA RAD51C GPC3 X 132826377 T/A 0 NM_001164617.1 intron_variant NM_001164617.1:c.1361+20A>T NA NM_004484.3 intron_variant NM_004484.3:c.1292+20A>T NA GPC3 EGFR 7 55270366 CA/C 0 NM_005228.3 intron_variant NM_005228.3:c.3271+49delA NA NM_005228.3 intron_variant NM_005228.3:c.3271+49delA NA EGFR NF1 17 29550633 A/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.1845+48A>G NA NM_000267.3 intron_variant NM_000267.3:c.1845+48A>G NA NF1 BRCA1 17 41267810 G/A 0 NM_007300.3 intron_variant NM_007300.3:c.81-14C>T NA NM_007294.3 intron_variant NM_007294.3:c.81-14C>T NA BRCA1 BRIP1 17 59885813 A/T 0.86 NM_032043.2 intron_variant NM_032043.2:c.918+15T>A NA NM_032043.2 intron_variant NM_032043.2:c.918+15T>A NA BRIP1 CEP57 11 95554985 T/A 0.08 NM_014679.4 intron_variant NM_014679.4:c.700-50T>A NA NM_014679.4 intron_variant NM_014679.4:c.700-50T>A NA CEP57 ATM 11 108126917 A/T 0 NM_000051.3 intron_variant NM_000051.3:c.2125-25A>T NA NM_000051.3 intron_variant NM_000051.3:c.2125-25A>T NA ATM XPC 3 14209914 T/G 0 NM_004628.4 intron_variant NM_004628.4:c.413-34A>C NA NM_004628.4 intron_variant NM_004628.4:c.413-34A>C NA XPC ALK 2 29451973 A/G 0 NM_004304.4 intron_variant NM_004304.4:c.2633-41T>C NA NM_004304.4 intron_variant NM_004304.4:c.2633-41T>C NA ALK FANCD2 3 10081386 A/T 0.02 NM_033084.3 intron_variant NM_033084.3:c.571-19A>T NA NM_033084.3 intron_variant NM_033084.3:c.571-19A>T NA FANCD2 ALK 2 30142832 C/T 0 NM_004304.4 intron_variant NM_004304.4:c.667+27G>A NA NM_004304.4 intron_variant NM_004304.4:c.667+27G>A NA ALK FANCI 15 89856091 A/G 0 NM_001113378.1 intron_variant NM_001113378.1:c.3652-44A>G NA NM_001113378.1 intron_variant NM_001113378.1:c.3652-44A>G NA FANCI NF1 17 29586198 G/A 0 NM_001042492.2 intron_variant NM_001042492.2:c.4430+51G>A NA NM_000267.3 intron_variant NM_000267.3:c.4367+51G>A NA NF1 NF1 17 29685479 G/T 1.78 NM_001042492.2 intron_variant NM_001042492.2:c.7971-19G>T NA NM_000267.3 intron_variant NM_000267.3:c.7908-19G>T NA NF1 WRN 8 30958497 C/T 2.83 NM_000553.4 intron_variant NM_000553.4:c.2088+26C>T NA NM_000553.4 intron_variant NM_000553.4:c.2088+26C>T NA WRN WRN 8 30958504 A/G 3.23 NM_000553.4 intron_variant NM_000553.4:c.2088+33A>G NA NM_000553.4 intron_variant NM_000553.4:c.2088+33A>G NA WRN DIS3L2 2 233199484 T/T 2.51 NM_152383.4 intron_variant NM_152383.4:c.2394+39C>T NA NM_152383.4 intron_variant NM_152383.4:c.2394+39C>T NA DIS3L2 BRCA2 13 32971023 T/G 0 NM_000059.3 intron_variant NM_000059.3:c.9502-12T>G NA NM_000059.3 intron_variant NM_000059.3:c.9502-12T>G NA BRCA2 FANCG 9 35078100 A/A 0.9 NM_004629.1 intron_variant NM_004629.1:c.510+38C>T NA NM_004629.1 intron_variant NM_004629.1:c.510+38C>T NA FANCG FLCN 17 17118264 G/A 0 NM_144997.5 intron_variant NM_144997.5:c.1538+35C>T NA NM_144997.5 intron_variant NM_144997.5:c.1538+35C>T NA FLCN FANCE 6 35430705 G/C 0 NM_021922.2 intron_variant NM_021922.2:c.1509+14G>C NA NM_021922.2 intron_variant NM_021922.2:c.1509+14G>C NA FANCE ATM 11 108115478 C/T 0.02 NM_000051.3 intron_variant NM_000051.3:c.663-37C>T NA NM_000051.3 intron_variant NM_000051.3:c.663-37C>T NA ATM BIVM-ERCC5,ERCC5 13 103525725 G/T 0 NM_001204425.1 intron_variant NM_001204425.1:c.4326+32G>T NA NM_000123.3 intron_variant NM_000123.3:c.2964+32G>T NA ERCC5 MSH2 2 47672819 T/G 0 NM_000251.2 intron_variant NM_000251.2:c.1386+23T>G NA NM_000251.2 intron_variant NM_000251.2:c.1386+23T>G NA MSH2 FLCN 17 17120542 T/C 0 NM_144997.5 intron_variant NM_144997.5:c.1063-46A>G NA NM_144997.5 intron_variant NM_144997.5:c.1063-46A>G NA FLCN NF1 17 29554325 C/G 0 NM_001042492.2 intron_variant NM_001042492.2:c.2325+16C>G NA NM_000267.3 intron_variant NM_000267.3:c.2325+16C>G NA NF1 PTCH1 9 98244530 G/C 0.02 NM_000264.3 intron_variant NM_000264.3:c.585-45C>G NA NM_000264.3 intron_variant NM_000264.3:c.585-45C>G NA PTCH1 MET 7 116403090 G/T 0 NM_001127500.1 intron_variant NM_001127500.1:c.2419-14G>T NA NM_000245.2 intron_variant NM_000245.2:c.2365-14G>T NA MET WT1 11 32413647 A/C 0 NM_024426.4 intron_variant NM_024426.4:c.1340-37T>G NA NM_024426.4 intron_variant NM_024426.4:c.1340-37T>G NA WT1 SBDS 7 66453530 GAC/G 0 NM_016038.2 intron_variant NM_016038.2:c.625-46_625-45delGT NA NM_016038.2 intron_variant NM_016038.2:c.625-46_625-45delGT NA SBDS SUFU 10 104353504 G/A 0 NM_016169.3 intron_variant NM_016169.3:c.683+26G>A NA NM_016169.3 intron_variant NM_016169.3:c.683+26G>A NA SUFU BIVM-ERCC5,ERCC5 13 103518275 A/G 0 NM_001204425.1 intron_variant NM_001204425.1:c.3561+14A>G NA NM_000123.3 intron_variant NM_000123.3:c.2199+14A>G NA ERCC5 RAD51D 17 33445549 G/A 18.75 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.232+2761C>T NA NM_002878.3 synonymous_variant NM_002878.3:c.234C>T NP_002869.3:p.Ser78%3D RAD51D RAD51D 17 33445549 A/A 18.75 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.232+2761C>T NA NM_002878.3 synonymous_variant NM_002878.3:c.234C>T NP_002869.3:p.Ser78%3D RAD51D RAD51D 17 33430464 A/G 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.419+9T>C NA NM_002878.3 intron_variant NM_002878.3:c.667+9T>C NA RAD51D RAD51D 17 33446600 G/A 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.232+1710C>T NA NM_002878.3 synonymous_variant NM_002878.3:c.33C>T NP_002869.3:p.Gly11%3D RAD51D RAD51D 17 33433966 C/CTG 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.233-468_233-467dupCA NA NM_002878.3 intron_variant NM_002878.3:c.480+39_480+40dupCA NA RAD51D RAD51D 17 33446562 C/T 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.232+1748G>A NA NM_002878.3 missense_variant NM_002878.3:c.71G>A NP_002869.3:p.Arg24Lys RAD51D RAD51D 17 33446502 A/T 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.232+1808T>A NA NM_002878.3 intron_variant NM_002878.3:c.82+49T>A NA RAD51D RAD51D 17 33428179 CA/C 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.655+40delT NA NM_002878.3 intron_variant NM_002878.3:c.903+40delT NA RAD51D RAD51D 17 33446099 C/T 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.232+2211G>A NA NM_002878.3 intron_variant NM_002878.3:c.144+31G>A NA RAD51D RAD51D 17 33434359 C/A 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.233-859G>T NA NM_002878.3 intron_variant NM_002878.3:c.345+26G>T NA RAD51D RAD51D 17 33434103 C/G 0 NR_037714.1 intron_variant,non_coding_transcript_variant NR_037714.1:n.233-603G>C NA NM_002878.3 synonymous_variant NM_002878.3:c.384G>C NP_002869.3:p.Leu128%3D RAD51D FANCD2 3 10088343 A/G 0 NM_033084.3 missense_variant NM_033084.3:c.1214A>G NP_149075.2:p.Asn405Ser NM_033084.3 missense_variant NM_033084.3:c.1214A>G NP_149075.2:p.Asn405Ser FANCD2 HNF1A 12 121437407 A/G 0 NM_000545.5 missense_variant NM_000545.5:c.1745A>G NP_000536.5:p.His582Arg NM_000545.5 missense_variant NM_000545.5:c.1745A>G NP_000536.5:p.His582Arg HNF1A EPCAM 2 47607081 A/G 0.08 NM_002354.2 missense_variant NM_002354.2:c.831A>G NP_002345.2:p.Ile277Met NM_002354.2 missense_variant NM_002354.2:c.831A>G NP_002345.2:p.Ile277Met EPCAM FANCM 14 45645715 A/G 1.3 NM_020937.2 missense_variant NM_020937.2:c.3758A>G NP_065988.1:p.Asn1253Ser NM_020937.2 missense_variant NM_020937.2:c.3758A>G NP_065988.1:p.Asn1253Ser FANCM FANCM 14 45665661 A/G 0.86 NM_020937.2 missense_variant NM_020937.2:c.5627A>G NP_065988.1:p.Asn1876Ser NM_020937.2 missense_variant NM_020937.2:c.5627A>G NP_065988.1:p.Asn1876Ser FANCM PRF1 10 72360387 G/A 1.32 NM_005041.4 missense_variant NM_005041.4:c.272C>T NP_005032.2:p.Ala91Val NM_005041.4 missense_variant NM_005041.4:c.272C>T NP_005032.2:p.Ala91Val PRF1 BIVM-ERCC5,ERCC5 13 103515085 G/C 4.23 NM_001204425.1 missense_variant NM_001204425.1:c.2948G>C NP_001191354.1:p.Cys983Ser NM_000123.3 missense_variant NM_000123.3:c.1586G>C NP_000114.2:p.Cys529Ser ERCC5 PMS2 7 6045627 C/T 7.57 NM_000535.5 missense_variant NM_000535.5:c.59G>A NP_000526.1:p.Arg20Gln NM_000535.5 missense_variant NM_000535.5:c.59G>A NP_000526.1:p.Arg20Gln PMS2 BRCA1 17 41246481 T/C 2.18 NM_007300.3 missense_variant NM_007300.3:c.1067A>G NP_009231.2:p.Gln356Arg NM_007294.3 missense_variant NM_007294.3:c.1067A>G NP_009225.1:p.Gln356Arg BRCA1 KIT 4 55593464 A/C 6.45 NM_000222.2 missense_variant NM_000222.2:c.1621A>C NP_000213.1:p.Met541Leu NM_000222.2 missense_variant NM_000222.2:c.1621A>C NP_000213.1:p.Met541Leu KIT ERCC4 16 14029033 G/A 2.85 NM_005236.2 missense_variant NM_005236.2:c.1244G>A NP_005227.1:p.Arg415Gln NM_005236.2 missense_variant NM_005236.2:c.1244G>A NP_005227.1:p.Arg415Gln ERCC4 PALB2 16 23646191 T/C 15.08 NM_024675.3 missense_variant NM_024675.3:c.1676A>G NP_078951.2:p.Gln559Arg NM_024675.3 missense_variant NM_024675.3:c.1676A>G NP_078951.2:p.Gln559Arg PALB2 ATM 11 108175462 G/A 6.69 NM_000051.3 missense_variant NM_000051.3:c.5557G>A NP_000042.3:p.Asp1853Asn NM_000051.3 missense_variant NM_000051.3:c.5557G>A NP_000042.3:p.Asp1853Asn ATM BIVM-ERCC5,ERCC5 13 103528002 G/C 36.14 NM_001204425.1 missense_variant NM_001204425.1:c.4672G>C NP_001191354.1:p.Asp1558His NM_000123.3 missense_variant NM_000123.3:c.3310G>C NP_000114.2:p.Asp1104His ERCC5 WRN 8 31024654 C/C 19.27 NM_000553.4 missense_variant NM_000553.4:c.4099T>C NP_000544.2:p.Cys1367Arg NM_000553.4 missense_variant NM_000553.4:c.4099T>C NP_000544.2:p.Cys1367Arg WRN HNF1A 12 121435427 G/A 31.77 NM_000545.5 missense_variant NM_000545.5:c.1460G>A NP_000536.5:p.Ser487Asn NM_000545.5 missense_variant NM_000545.5:c.1460G>A NP_000536.5:p.Ser487Asn HNF1A HNF1A 12 121416650 A/C 29.85 NM_000545.5 missense_variant NM_000545.5:c.79A>C NP_000536.5:p.Ile27Leu NM_000545.5 missense_variant NM_000545.5:c.79A>C NP_000536.5:p.Ile27Leu HNF1A ERCC2 19 45867259 C/T 19.45 NM_000400.3 missense_variant NM_000400.3:c.934G>A NP_000391.1:p.Asp312Asn NM_000400.3 missense_variant NM_000400.3:c.934G>A NP_000391.1:p.Asp312Asn ERCC2 CEP57 11 95564259 A/G 20.59 NM_014679.4 missense_variant NM_014679.4:c.1342A>G NP_055494.2:p.Arg448Gly NM_014679.4 missense_variant NM_014679.4:c.1342A>G NP_055494.2:p.Arg448Gly CEP57 RECQL4 8 145741702 C/G 44.77 NM_004260.3 missense_variant NM_004260.3:c.801G>C NP_004251.3:p.Glu267Asp NM_004260.3 missense_variant NM_004260.3:c.801G>C NP_004251.3:p.Glu267Asp RECQL4 ALK 2 29416366 G/C 42.71 NM_004304.4 missense_variant NM_004304.4:c.4587C>G NP_004295.2:p.Asp1529Glu NM_004304.4 missense_variant NM_004304.4:c.4587C>G NP_004295.2:p.Asp1529Glu ALK PMS2 7 6026988 G/A 35.82 NM_000535.5 missense_variant NM_000535.5:c.1408C>T NP_000526.1:p.Pro470Ser NM_000535.5 missense_variant NM_000535.5:c.1408C>T NP_000526.1:p.Pro470Ser PMS2 EPCAM 2 47601106 T/C 33.39 NM_002354.2 missense_variant NM_002354.2:c.344T>C NP_002345.2:p.Met115Thr NM_002354.2 missense_variant NM_002354.2:c.344T>C NP_002345.2:p.Met115Thr EPCAM BRIP1 17 59763347 A/G 37.22 NM_032043.2 missense_variant NM_032043.2:c.2755T>C NP_114432.2:p.Ser919Pro NM_032043.2 missense_variant NM_032043.2:c.2755T>C NP_114432.2:p.Ser919Pro BRIP1 BUB1B 15 40477831 A/A 37.18 NM_001211.5 missense_variant NM_001211.5:c.1046G>A NP_001202.4:p.Arg349Gln NM_001211.5 missense_variant NM_001211.5:c.1046G>A NP_001202.4:p.Arg349Gln BUB1B APC 5 112176756 T/A 13.46 NM_000038.5 missense_variant NM_000038.5:c.5465T>A NP_000029.2:p.Val1822Asp NM_000038.5 missense_variant NM_000038.5:c.5465T>A NP_000029.2:p.Val1822Asp APC PMS2 7 6026775 C/C 11.68 NM_000535.5 missense_variant NM_000535.5:c.1621A>G NP_000526.1:p.Lys541Glu NM_000535.5 missense_variant NM_000535.5:c.1621A>G NP_000526.1:p.Lys541Glu PMS2 RHBDF2 17 74475024 A/A 23.48 NM_024599.5 missense_variant NM_024599.5:c.623C>T NP_078875.4:p.Pro208Leu NM_001005498.3 missense_variant NM_001005498.3:c.536C>T NP_001005498.2:p.Pro179Leu RHBDF2 RECQL4 8 145742514 G/G 5.67 NM_004260.3 missense_variant NM_004260.3:c.274T>C NP_004251.3:p.Ser92Pro NM_004260.3 missense_variant NM_004260.3:c.274T>C NP_004251.3:p.Ser92Pro RECQL4 AIP 11 67257823 A/A 15.46 NM_003977.2 missense_variant NM_003977.2:c.682C>A NP_003968.2:p.Gln228Lys NM_003977.2 missense_variant NM_003977.2:c.682C>A NP_003968.2:p.Gln228Lys AIP BRCA2 13 32929387 C/C 2.42 NM_000059.3 missense_variant NM_000059.3:c.7397T>C NP_000050.2:p.Val2466Ala NM_000059.3 missense_variant NM_000059.3:c.7397T>C NP_000050.2:p.Val2466Ala BRCA2 ALK 2 29416572 C/C 0.78 NM_004304.4 missense_variant NM_004304.4:c.4381A>G NP_004295.2:p.Ile1461Val NM_004304.4 missense_variant NM_004304.4:c.4381A>G NP_004295.2:p.Ile1461Val ALK AIP 11 67258391 G/G 0.06 NM_003977.2 missense_variant NM_003977.2:c.920A>G NP_003968.2:p.Gln307Arg NM_003977.2 missense_variant NM_003977.2:c.920A>G NP_003968.2:p.Gln307Arg AIP ATM,C11ORF65 11 108183167 G/G 0 NM_000051.3 missense_variant NM_000051.3:c.5948A>G NP_000042.3:p.Asn1983Ser NM_000051.3 missense_variant NM_000051.3:c.5948A>G NP_000042.3:p.Asn1983Ser ATM HNF1A 12 121437382 G/G 1.48 NM_000545.5 missense_variant NM_000545.5:c.1720A>G NP_000536.5:p.Ser574Gly NM_000545.5 missense_variant NM_000545.5:c.1720A>G NP_000536.5:p.Ser574Gly HNF1A BIVM-ERCC5,ERCC5 13 103527849 C/C 0.18 NM_001204425.1 missense_variant NM_001204425.1:c.4519G>C NP_001191354.1:p.Gly1507Arg NM_000123.3 missense_variant NM_000123.3:c.3157G>C NP_000114.2:p.Gly1053Arg ERCC5 BIVM-ERCC5,ERCC5 13 103527930 C/C 0.18 NM_001204425.1 missense_variant NM_001204425.1:c.4600G>C NP_001191354.1:p.Gly1534Arg NM_000123.3 missense_variant NM_000123.3:c.3238G>C NP_000114.2:p.Gly1080Arg ERCC5 BIVM-ERCC5,ERCC5 13 103514016 T/A 0 NM_001204425.1 missense_variant NM_001204425.1:c.2194T>A NP_001191354.1:p.Ser732Thr NM_000123.3 missense_variant NM_000123.3:c.832T>A NP_000114.2:p.Ser278Thr ERCC5 FANCM 14 45658449 G/G 0.38 NM_020937.2 missense_variant NM_020937.2:c.5224A>G NP_065988.1:p.Ile1742Val NM_020937.2 missense_variant NM_020937.2:c.5224A>G NP_065988.1:p.Ile1742Val FANCM PMS2 7 6026942 G/T 11.2 NM_000535.5 missense_variant NM_000535.5:c.1454C>A NP_000526.1:p.Thr485Lys NM_000535.5 missense_variant NM_000535.5:c.1454C>A NP_000526.1:p.Thr485Lys PMS2 EZH2 7 148525904 C/G 7.99 NM_004456.4 missense_variant NM_004456.4:c.553G>C NP_004447.2:p.Asp185His NM_004456.4 missense_variant NM_004456.4:c.553G>C NP_004447.2:p.Asp185His EZH2 FANCA 16 89883007 A/T 4.19 NM_000135.2 missense_variant NM_000135.2:c.17T>A NP_000126.2:p.Val6Asp NM_000135.2 missense_variant NM_000135.2:c.17T>A NP_000126.2:p.Val6Asp FANCA TSC1 9 135786904 A/G 13.52 NM_000368.4 missense_variant NM_000368.4:c.965T>C NP_000359.1:p.Met322Thr NM_000368.4 missense_variant NM_000368.4:c.965T>C NP_000359.1:p.Met322Thr TSC1 MSH6 2 48010488 G/A 20.09 NM_000179.2 missense_variant NM_000179.2:c.116G>A NP_000170.1:p.Gly39Glu NM_000179.2 missense_variant NM_000179.2:c.116G>A NP_000170.1:p.Gly39Glu MSH6 RET 10 43610119 G/A 16.91 NM_020975.4 missense_variant NM_020975.4:c.2071G>A NP_066124.1:p.Gly691Ser NM_020975.4 missense_variant NM_020975.4:c.2071G>A NP_066124.1:p.Gly691Ser RET WRN 8 31024654 T/C 19.27 NM_000553.4 missense_variant NM_000553.4:c.4099T>C NP_000544.2:p.Cys1367Arg NM_000553.4 missense_variant NM_000553.4:c.4099T>C NP_000544.2:p.Cys1367Arg WRN BMPR1A 10 88635779 C/A 49.98 NM_004329.2 missense_variant NM_004329.2:c.4C>A NP_004320.2:p.Pro2Thr NM_004329.2 missense_variant NM_004329.2:c.4C>A NP_004320.2:p.Pro2Thr BMPR1A BRCA2 13 32906729 A/C 24.94 NM_000059.3 missense_variant NM_000059.3:c.1114A>C NP_000050.2:p.Asn372His NM_000059.3 missense_variant NM_000059.3:c.1114A>C NP_000050.2:p.Asn372His BRCA2 FANCA 16 89836323 C/T 33.33 NM_000135.2 missense_variant NM_000135.2:c.2426G>A NP_000126.2:p.Gly809Asp NM_000135.2 missense_variant NM_000135.2:c.2426G>A NP_000126.2:p.Gly809Asp FANCA MLH1 3 37053568 A/G 12.96 NM_000249.3 missense_variant NM_000249.3:c.655A>G NP_000240.1:p.Ile219Val NM_000249.3 missense_variant NM_000249.3:c.655A>G NP_000240.1:p.Ile219Val MLH1 BRCA1 17 41244000 T/C 35.26 NM_007300.3 missense_variant NM_007300.3:c.3548A>G NP_009231.2:p.Lys1183Arg NM_007294.3 missense_variant NM_007294.3:c.3548A>G NP_009225.1:p.Lys1183Arg BRCA1 BRCA1 17 41244435 T/C 33.57 NM_007300.3 missense_variant NM_007300.3:c.3113A>G NP_009231.2:p.Glu1038Gly NM_007294.3 missense_variant NM_007294.3:c.3113A>G NP_009225.1:p.Glu1038Gly BRCA1 BRCA1 17 41223094 T/C 35.58 NM_007300.3 missense_variant NM_007300.3:c.4900A>G NP_009231.2:p.Ser1634Gly NM_007294.3 missense_variant NM_007294.3:c.4837A>G NP_009225.1:p.Ser1613Gly BRCA1 BRCA1 17 41244936 G/A 45.61 NM_007300.3 missense_variant NM_007300.3:c.2612C>T NP_009231.2:p.Pro871Leu NM_007294.3 missense_variant NM_007294.3:c.2612C>T NP_009225.1:p.Pro871Leu BRCA1 CEP57 11 95564259 G/G 20.59 NM_014679.4 missense_variant NM_014679.4:c.1342A>G NP_055494.2:p.Arg448Gly NM_014679.4 missense_variant NM_014679.4:c.1342A>G NP_055494.2:p.Arg448Gly CEP57 FANCA 16 89866043 T/C 30.95 NM_000135.2 missense_variant NM_000135.2:c.796A>G NP_000126.2:p.Thr266Ala NM_000135.2 missense_variant NM_000135.2:c.796A>G NP_000126.2:p.Thr266Ala FANCA FANCA 16 89849480 C/T 37.6 NM_000135.2 missense_variant NM_000135.2:c.1501G>A NP_000126.2:p.Gly501Ser NM_000135.2 missense_variant NM_000135.2:c.1501G>A NP_000126.2:p.Gly501Ser FANCA WRN 8 30999280 G/T 49.6 NM_000553.4 missense_variant NM_000553.4:c.3222G>T NP_000544.2:p.Leu1074Phe NM_000553.4 missense_variant NM_000553.4:c.3222G>T NP_000544.2:p.Leu1074Phe WRN RHBDF2 17 74475975 C/A 45.63 NM_024599.5 missense_variant NM_024599.5:c.199G>T NP_078875.4:p.Ala67Ser NM_001005498.3 intron_variant NM_001005498.3:c.151-39G>T NA RHBDF2 TP53 17 7579472 C/C 45.71 NM_000546.5 missense_variant NM_000546.5:c.215C>G NP_000537.3:p.Pro72Arg NM_000546.5 missense_variant NM_000546.5:c.215C>G NP_000537.3:p.Pro72Arg TP53 SLX4 16 3647996 T/C 0 NM_032444.2 missense_variant NM_032444.2:c.1168A>G NP_115820.2:p.Ser390Gly NM_032444.2 missense_variant NM_032444.2:c.1168A>G NP_115820.2:p.Ser390Gly SLX4 FANCB X 14863136 A/G 0.05 NM_152633.2 missense_variant NM_152633.2:c.1769T>C NP_689846.1:p.Phe590Ser NM_152633.2 missense_variant NM_152633.2:c.1769T>C NP_689846.1:p.Phe590Ser FANCB APC 5 112179153 C/G 0.18 NM_000038.5 missense_variant NM_000038.5:c.7862C>G NP_000029.2:p.Ser2621Cys NM_000038.5 missense_variant NM_000038.5:c.7862C>G NP_000029.2:p.Ser2621Cys APC PMS2 7 6026865 T/C 1.1 NM_000535.5 missense_variant NM_000535.5:c.1531A>G NP_000526.1:p.Thr511Ala NM_000535.5 missense_variant NM_000535.5:c.1531A>G NP_000526.1:p.Thr511Ala PMS2 ATM 11 108143456 C/G 0.92 NM_000051.3 missense_variant NM_000051.3:c.3161C>G NP_000042.3:p.Pro1054Arg NM_000051.3 missense_variant NM_000051.3:c.3161C>G NP_000042.3:p.Pro1054Arg ATM XPC 3 14199908 C/T 2.31 NM_004628.4 missense_variant NM_004628.4:c.1475G>A NP_004619.3:p.Arg492His NM_004628.4 missense_variant NM_004628.4:c.1475G>A NP_004619.3:p.Arg492His XPC FANCI 15 89803950 C/T 4.63 NM_001113378.1 missense_variant NM_001113378.1:c.164C>T NP_001106849.1:p.Pro55Leu NM_001113378.1 missense_variant NM_001113378.1:c.164C>T NP_001106849.1:p.Pro55Leu FANCI XPC 3 14199887 G/A 23.3 NM_004628.4 missense_variant NM_004628.4:c.1496C>T NP_004619.3:p.Ala499Val NM_004628.4 missense_variant NM_004628.4:c.1496C>T NP_004619.3:p.Ala499Val XPC EGFR 7 55229255 G/A 29.21 NM_005228.3 missense_variant NM_005228.3:c.1562G>A NP_005219.2:p.Arg521Lys NM_005228.3 missense_variant NM_005228.3:c.1562G>A NP_005219.2:p.Arg521Lys EGFR NBN 8 90990479 G/G 35.7 NM_002485.4 missense_variant NM_002485.4:c.553G>C NP_002476.2:p.Glu185Gln NM_002485.4 missense_variant NM_002485.4:c.553G>C NP_002476.2:p.Glu185Gln NBN FANCI 15 89804043 C/T 25.98 NM_001113378.1 missense_variant NM_001113378.1:c.257C>T NP_001106849.1:p.Ala86Val NM_001113378.1 missense_variant NM_001113378.1:c.257C>T NP_001106849.1:p.Ala86Val FANCI RECQL4 8 145741702 G/G 44.77 NM_004260.3 missense_variant NM_004260.3:c.801G>C NP_004251.3:p.Glu267Asp NM_004260.3 missense_variant NM_004260.3:c.801G>C NP_004251.3:p.Glu267Asp RECQL4 FANCI 15 89836228 G/C 26.5 NM_001113378.1 missense_variant NM_001113378.1:c.2225G>C NP_001106849.1:p.Cys742Ser NM_001113378.1 missense_variant NM_001113378.1:c.2225G>C NP_001106849.1:p.Cys742Ser FANCI RHBDF2 17 74475975 A/A 45.63 NM_024599.5 missense_variant NM_024599.5:c.199G>T NP_078875.4:p.Ala67Ser NM_001005498.3 intron_variant NM_001005498.3:c.151-39G>T NA RHBDF2 BRIP1 17 59763347 G/G 37.22 NM_032043.2 missense_variant NM_032043.2:c.2755T>C NP_114432.2:p.Ser919Pro NM_032043.2 missense_variant NM_032043.2:c.2755T>C NP_114432.2:p.Ser919Pro BRIP1 PMS2 7 6026775 T/C 11.68 NM_000535.5 missense_variant NM_000535.5:c.1621A>G NP_000526.1:p.Lys541Glu NM_000535.5 missense_variant NM_000535.5:c.1621A>G NP_000526.1:p.Lys541Glu PMS2 BRCA2 13 32914127 G/A 0.02 NM_000059.3 missense_variant NM_000059.3:c.5635G>A NP_000050.2:p.Glu1879Lys NM_000059.3 missense_variant NM_000059.3:c.5635G>A NP_000050.2:p.Glu1879Lys BRCA2 FANCE 6 35430686 G/A 18.95 NM_021922.2 missense_variant NM_021922.2:c.1504G>A NP_068741.1:p.Ala502Thr NM_021922.2 missense_variant NM_021922.2:c.1504G>A NP_068741.1:p.Ala502Thr FANCE FANCM 14 45665468 C/G 10.62 NM_020937.2 missense_variant NM_020937.2:c.5434C>G NP_065988.1:p.Pro1812Ala NM_020937.2 missense_variant NM_020937.2:c.5434C>G NP_065988.1:p.Pro1812Ala FANCM FANCM 14 45650900 A/G 10.14 NM_020937.2 missense_variant NM_020937.2:c.4378A>G NP_065988.1:p.Ile1460Val NM_020937.2 missense_variant NM_020937.2:c.4378A>G NP_065988.1:p.Ile1460Val FANCM NSD1 5 176637240 T/T 22.86 NM_022455.4 missense_variant NM_022455.4:c.1840G>T NP_071900.2:p.Val614Leu NM_022455.4 missense_variant NM_022455.4:c.1840G>T NP_071900.2:p.Val614Leu NSD1 FANCM 14 45644589 G/T 23.22 NM_020937.2 missense_variant NM_020937.2:c.2632G>T NP_065988.1:p.Val878Leu NM_020937.2 missense_variant NM_020937.2:c.2632G>T NP_065988.1:p.Val878Leu FANCM NSD1 5 176637576 C/C 24.96 NM_022455.4 missense_variant NM_022455.4:c.2176T>C NP_071900.2:p.Ser726Pro NM_022455.4 missense_variant NM_022455.4:c.2176T>C NP_071900.2:p.Ser726Pro NSD1 FANCA 16 89836323 T/T 33.33 NM_000135.2 missense_variant NM_000135.2:c.2426G>A NP_000126.2:p.Gly809Asp NM_000135.2 missense_variant NM_000135.2:c.2426G>A NP_000126.2:p.Gly809Asp FANCA HNF1A 12 121416650 C/C 29.85 NM_000545.5 missense_variant NM_000545.5:c.79A>C NP_000536.5:p.Ile27Leu NM_000545.5 missense_variant NM_000545.5:c.79A>C NP_000536.5:p.Ile27Leu HNF1A PTCH1 9 98209594 G/A 39.68 NM_000264.3 missense_variant NM_000264.3:c.3944C>T NP_000255.2:p.Pro1315Leu NM_000264.3 missense_variant NM_000264.3:c.3944C>T NP_000255.2:p.Pro1315Leu PTCH1 FANCA 16 89866043 C/C 30.95 NM_000135.2 missense_variant NM_000135.2:c.796A>G NP_000126.2:p.Thr266Ala NM_000135.2 missense_variant NM_000135.2:c.796A>G NP_000126.2:p.Thr266Ala FANCA TP53 17 7579472 G/C 45.71 NM_000546.5 missense_variant NM_000546.5:c.215C>G NP_000537.3:p.Pro72Arg NM_000546.5 missense_variant NM_000546.5:c.215C>G NP_000537.3:p.Pro72Arg TP53 NF1 17 29559146 C/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.3253C>G NP_001035957.1:p.Leu1085Val NM_000267.3 missense_variant NM_000267.3:c.3253C>G NP_000258.1:p.Leu1085Val NF1 BRCA1 17 41226387 C/T 0.02 NM_007300.3 missense_variant NM_007300.3:c.4699G>A NP_009231.2:p.Asp1567Asn NM_007294.3 missense_variant NM_007294.3:c.4636G>A NP_009225.1:p.Asp1546Asn BRCA1 FANCF 11 22646800 G/A 0.52 NM_022725.3 missense_variant NM_022725.3:c.557C>T NP_073562.1:p.Ala186Val NM_022725.3 missense_variant NM_022725.3:c.557C>T NP_073562.1:p.Ala186Val FANCF HNF1A 12 121416864 C/T 2 NM_000545.5 missense_variant NM_000545.5:c.293C>T NP_000536.5:p.Ala98Val NM_000545.5 missense_variant NM_000545.5:c.293C>T NP_000536.5:p.Ala98Val HNF1A ALK 2 29416481 C/C 41.51 NM_004304.4 missense_variant NM_004304.4:c.4472A>G NP_004295.2:p.Lys1491Arg NM_004304.4 missense_variant NM_004304.4:c.4472A>G NP_004295.2:p.Lys1491Arg ALK EGFR 7 55229255 A/A 29.21 NM_005228.3 missense_variant NM_005228.3:c.1562G>A NP_005219.2:p.Arg521Lys NM_005228.3 missense_variant NM_005228.3:c.1562G>A NP_005219.2:p.Arg521Lys EGFR NBN 8 90990479 C/G 35.7 NM_002485.4 missense_variant NM_002485.4:c.553G>C NP_002476.2:p.Glu185Gln NM_002485.4 missense_variant NM_002485.4:c.553G>C NP_002476.2:p.Glu185Gln NBN ALK 2 29416366 C/C 42.71 NM_004304.4 missense_variant NM_004304.4:c.4587C>G NP_004295.2:p.Asp1529Glu NM_004304.4 missense_variant NM_004304.4:c.4587C>G NP_004295.2:p.Asp1529Glu ALK BUB1B 15 40477831 G/A 37.18 NM_001211.5 missense_variant NM_001211.5:c.1046G>A NP_001202.4:p.Arg349Gln NM_001211.5 missense_variant NM_001211.5:c.1046G>A NP_001202.4:p.Arg349Gln BUB1B APC 5 112176756 A/A 13.46 NM_000038.5 missense_variant NM_000038.5:c.5465T>A NP_000029.2:p.Val1822Asp NM_000038.5 missense_variant NM_000038.5:c.5465T>A NP_000029.2:p.Val1822Asp APC BRCA2 13 32913924 A/C 0 NM_000059.3 missense_variant NM_000059.3:c.5432A>C NP_000050.2:p.Glu1811Ala NM_000059.3 missense_variant NM_000059.3:c.5432A>C NP_000050.2:p.Glu1811Ala BRCA2 DIS3L2 2 232879671 C/T 8.94 NM_152383.4 missense_variant NM_152383.4:c.34C>T NP_689596.4:p.Pro12Ser NM_152383.4 missense_variant NM_152383.4:c.34C>T NP_689596.4:p.Pro12Ser DIS3L2 PALB2 16 23634293 C/T 0.86 NM_024675.3 missense_variant NM_024675.3:c.2993G>A NP_078951.2:p.Gly998Glu NM_024675.3 missense_variant NM_024675.3:c.2993G>A NP_078951.2:p.Gly998Glu PALB2 PALB2 16 23641461 C/G 1.44 NM_024675.3 missense_variant NM_024675.3:c.2014G>C NP_078951.2:p.Glu672Gln NM_024675.3 missense_variant NM_024675.3:c.2014G>C NP_078951.2:p.Glu672Gln PALB2 SLX4 16 3639827 G/A 6.29 NM_032444.2 missense_variant NM_032444.2:c.3812C>T NP_115820.2:p.Ser1271Phe NM_032444.2 missense_variant NM_032444.2:c.3812C>T NP_115820.2:p.Ser1271Phe SLX4 MLH1 3 37053568 G/G 12.96 NM_000249.3 missense_variant NM_000249.3:c.655A>G NP_000240.1:p.Ile219Val NM_000249.3 missense_variant NM_000249.3:c.655A>G NP_000240.1:p.Ile219Val MLH1 WRN 8 30999280 T/T 49.6 NM_000553.4 missense_variant NM_000553.4:c.3222G>T NP_000544.2:p.Leu1074Phe NM_000553.4 missense_variant NM_000553.4:c.3222G>T NP_000544.2:p.Leu1074Phe WRN MET 7 116418845 G/C 0.02 NM_001127500.1 missense_variant NM_001127500.1:c.3410G>C NP_001120972.1:p.Gly1137Ala NM_000245.2 missense_variant NM_000245.2:c.3356G>C NP_000236.2:p.Gly1119Ala MET BRIP1 17 59924512 C/T 0.14 NM_032043.2 missense_variant NM_032043.2:c.577G>A NP_114432.2:p.Val193Ile NM_032043.2 missense_variant NM_032043.2:c.577G>A NP_114432.2:p.Val193Ile BRIP1 APC 5 112175240 G/C 0.3 NM_000038.5 missense_variant NM_000038.5:c.3949G>C NP_000029.2:p.Glu1317Gln NM_000038.5 missense_variant NM_000038.5:c.3949G>C NP_000029.2:p.Glu1317Gln APC FANCA 16 89833576 G/C 0.94 NM_000135.2 missense_variant NM_000135.2:c.2574C>G NP_000126.2:p.Ser858Arg NM_000135.2 missense_variant NM_000135.2:c.2574C>G NP_000126.2:p.Ser858Arg FANCA WRN 8 30938704 G/A 4.69 NM_000553.4 missense_variant NM_000553.4:c.1161G>A NP_000544.2:p.Met387Ile NM_000553.4 missense_variant NM_000553.4:c.1161G>A NP_000544.2:p.Met387Ile WRN HNF1A 12 121435427 A/A 31.77 NM_000545.5 missense_variant NM_000545.5:c.1460G>A NP_000536.5:p.Ser487Asn NM_000545.5 missense_variant NM_000545.5:c.1460G>A NP_000536.5:p.Ser487Asn HNF1A ERCC4 16 14042178 G/A 0.04 NM_005236.2 missense_variant NM_005236.2:c.2725G>A NP_005227.1:p.Val909Ile NM_005236.2 missense_variant NM_005236.2:c.2725G>A NP_005227.1:p.Val909Ile ERCC4 CEP57 11 95546226 G/C 0.4 NM_014679.4 missense_variant NM_014679.4:c.333G>C NP_055494.2:p.Gln111His NM_014679.4 missense_variant NM_014679.4:c.333G>C NP_055494.2:p.Gln111His CEP57 BIVM-ERCC5,ERCC5 13 103513944 A/G 1.88 NM_001204425.1 missense_variant NM_001204425.1:c.2122A>G NP_001191354.1:p.Met708Val NM_000123.3 missense_variant NM_000123.3:c.760A>G NP_000114.2:p.Met254Val ERCC5 BLM 15 91326099 C/T 5.13 NM_000057.2 missense_variant NM_000057.2:c.2603C>T NP_000048.1:p.Pro868Leu NM_000057.2 missense_variant NM_000057.2:c.2603C>T NP_000048.1:p.Pro868Leu BLM BLM 15 91354521 G/A 6.71 NM_000057.2 missense_variant NM_000057.2:c.3961G>A NP_000048.1:p.Val1321Ile NM_000057.2 missense_variant NM_000057.2:c.3961G>A NP_000048.1:p.Val1321Ile BLM MET 7 116397804 G/C 0 NM_001127500.1 missense_variant NM_001127500.1:c.2078G>C NP_001120972.1:p.Gly693Ala NM_000245.2 missense_variant NM_000245.2:c.2078G>C NP_000236.2:p.Gly693Ala MET TSC2 16 2110795 G/A 0.88 NM_000548.3 missense_variant NM_000548.3:c.1100G>A NP_000539.2:p.Arg367Gln NM_000548.3 missense_variant NM_000548.3:c.1100G>A NP_000539.2:p.Arg367Gln TSC2 FANCB X 14877404 C/T 3.65 NM_152633.2 missense_variant NM_152633.2:c.1004G>A NP_689846.1:p.Gly335Glu NM_152633.2 missense_variant NM_152633.2:c.1004G>A NP_689846.1:p.Gly335Glu FANCB BLM 15 91347463 T/A 0 NM_000057.2 missense_variant NM_000057.2:c.3625T>A NP_000048.1:p.Ser1209Thr NM_000057.2 missense_variant NM_000057.2:c.3625T>A NP_000048.1:p.Ser1209Thr BLM FANCA 16 89857833 A/G 0 NM_000135.2 missense_variant NM_000135.2:c.1337T>C NP_000126.2:p.Leu446Pro NM_000135.2 missense_variant NM_000135.2:c.1337T>C NP_000126.2:p.Leu446Pro FANCA SLX4 16 3658881 G/A 0.06 NM_032444.2 missense_variant NM_032444.2:c.85C>T NP_115820.2:p.Arg29Cys NM_032444.2 missense_variant NM_032444.2:c.85C>T NP_115820.2:p.Arg29Cys SLX4 PRF1 10 72358722 T/C 0.76 NM_005041.4 missense_variant NM_005041.4:c.755A>G NP_005032.2:p.Asn252Ser NM_005041.4 missense_variant NM_005041.4:c.755A>G NP_005032.2:p.Asn252Ser PRF1 BRCA2 13 32914236 C/T 0.86 NM_000059.3 missense_variant NM_000059.3:c.5744C>T NP_000050.2:p.Thr1915Met NM_000059.3 missense_variant NM_000059.3:c.5744C>T NP_000050.2:p.Thr1915Met BRCA2 BRCA1 17 41245471 C/T 3.35 NM_007300.3 missense_variant NM_007300.3:c.2077G>A NP_009231.2:p.Asp693Asn NM_007294.3 missense_variant NM_007294.3:c.2077G>A NP_009225.1:p.Asp693Asn BRCA1 ALK 2 29416481 T/C 41.51 NM_004304.4 missense_variant NM_004304.4:c.4472A>G NP_004295.2:p.Lys1491Arg NM_004304.4 missense_variant NM_004304.4:c.4472A>G NP_004295.2:p.Lys1491Arg ALK BMPR1A 10 88635779 A/A 49.98 NM_004329.2 missense_variant NM_004329.2:c.4C>A NP_004320.2:p.Pro2Thr NM_004329.2 missense_variant NM_004329.2:c.4C>A NP_004320.2:p.Pro2Thr BMPR1A BRCA1 17 41244000 C/C 35.26 NM_007300.3 missense_variant NM_007300.3:c.3548A>G NP_009231.2:p.Lys1183Arg NM_007294.3 missense_variant NM_007294.3:c.3548A>G NP_009225.1:p.Lys1183Arg BRCA1 BRCA1 17 41244435 C/C 33.57 NM_007300.3 missense_variant NM_007300.3:c.3113A>G NP_009231.2:p.Glu1038Gly NM_007294.3 missense_variant NM_007294.3:c.3113A>G NP_009225.1:p.Glu1038Gly BRCA1 BRCA1 17 41223094 C/C 35.58 NM_007300.3 missense_variant NM_007300.3:c.4900A>G NP_009231.2:p.Ser1634Gly NM_007294.3 missense_variant NM_007294.3:c.4837A>G NP_009225.1:p.Ser1613Gly BRCA1 BRCA1 17 41244936 A/A 45.61 NM_007300.3 missense_variant NM_007300.3:c.2612C>T NP_009231.2:p.Pro871Leu NM_007294.3 missense_variant NM_007294.3:c.2612C>T NP_009225.1:p.Pro871Leu BRCA1 FANCA 16 89849480 T/T 37.6 NM_000135.2 missense_variant NM_000135.2:c.1501G>A NP_000126.2:p.Gly501Ser NM_000135.2 missense_variant NM_000135.2:c.1501G>A NP_000126.2:p.Gly501Ser FANCA FANCD2 3 10106532 C/T 0 NM_033084.3 missense_variant NM_033084.3:c.2141C>T NP_149075.2:p.Pro714Leu NM_033084.3 missense_variant NM_033084.3:c.2141C>T NP_149075.2:p.Pro714Leu FANCD2 EGFR 7 55240780 G/A 0 NM_005228.3 missense_variant NM_005228.3:c.2024G>A NP_005219.2:p.Arg675Gln NM_005228.3 missense_variant NM_005228.3:c.2024G>A NP_005219.2:p.Arg675Gln EGFR TSC2 16 2134574 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.4351C>T NP_000539.2:p.Arg1451Cys NM_000548.3 missense_variant NM_000548.3:c.4351C>T NP_000539.2:p.Arg1451Cys TSC2 APC 5 112174464 A/G 0.04 NM_000038.5 missense_variant NM_000038.5:c.3173A>G NP_000029.2:p.Asp1058Gly NM_000038.5 missense_variant NM_000038.5:c.3173A>G NP_000029.2:p.Asp1058Gly APC FANCI 15 89804043 T/T 25.98 NM_001113378.1 missense_variant NM_001113378.1:c.257C>T NP_001106849.1:p.Ala86Val NM_001113378.1 missense_variant NM_001113378.1:c.257C>T NP_001106849.1:p.Ala86Val FANCI FANCI 15 89836228 C/C 26.5 NM_001113378.1 missense_variant NM_001113378.1:c.2225G>C NP_001106849.1:p.Cys742Ser NM_001113378.1 missense_variant NM_001113378.1:c.2225G>C NP_001106849.1:p.Cys742Ser FANCI NSD1 5 176638506 G/C 0 NM_022455.4 missense_variant NM_022455.4:c.3106G>C NP_071900.2:p.Ala1036Pro NM_022455.4 missense_variant NM_022455.4:c.3106G>C NP_071900.2:p.Ala1036Pro NSD1 FANCM 14 45658429 C/T 0 NM_020937.2 missense_variant NM_020937.2:c.5204C>T NP_065988.1:p.Ser1735Leu NM_020937.2 missense_variant NM_020937.2:c.5204C>T NP_065988.1:p.Ser1735Leu FANCM SDHB 1 17354297 A/G 0.94 NM_003000.2 missense_variant NM_003000.2:c.487T>C NP_002991.2:p.Ser163Pro NM_003000.2 missense_variant NM_003000.2:c.487T>C NP_002991.2:p.Ser163Pro SDHB NSD1 5 176637471 G/A 1.3 NM_022455.4 missense_variant NM_022455.4:c.2071G>A NP_071900.2:p.Ala691Thr NM_022455.4 missense_variant NM_022455.4:c.2071G>A NP_071900.2:p.Ala691Thr NSD1 ALK 2 29543736 A/G 1.6 NM_004304.4 missense_variant NM_004304.4:c.1427T>C NP_004295.2:p.Val476Ala NM_004304.4 missense_variant NM_004304.4:c.1427T>C NP_004295.2:p.Val476Ala ALK NSD1 5 176721119 G/A 5.17 NM_022455.4 missense_variant NM_022455.4:c.6750G>A NP_071900.2:p.Met2250Ile NM_022455.4 missense_variant NM_022455.4:c.6750G>A NP_071900.2:p.Met2250Ile NSD1 NSD1 5 176721151 T/C 5.17 NM_022455.4 missense_variant NM_022455.4:c.6782T>C NP_071900.2:p.Met2261Thr NM_022455.4 missense_variant NM_022455.4:c.6782T>C NP_071900.2:p.Met2261Thr NSD1 MUTYH 1 45800156 C/T 2.04 NM_001128425.1 missense_variant NM_001128425.1:c.64G>A NP_001121897.1:p.Val22Met NM_001048172.1 missense_variant NM_001048172.1:c.22G>A NP_001041637.1:p.Val8Met MUTYH NSD1 5 176637576 T/C 24.96 NM_022455.4 missense_variant NM_022455.4:c.2176T>C NP_071900.2:p.Ser726Pro NM_022455.4 missense_variant NM_022455.4:c.2176T>C NP_071900.2:p.Ser726Pro NSD1 ATM 11 108128246 T/A 0.12 NM_000051.3 missense_variant NM_000051.3:c.2289T>A NP_000042.3:p.Phe763Leu NM_000051.3 missense_variant NM_000051.3:c.2289T>A NP_000042.3:p.Phe763Leu ATM WRN 8 30938513 A/G 0.3 NM_000553.4 missense_variant NM_000553.4:c.970A>G NP_000544.2:p.Thr324Ala NM_000553.4 missense_variant NM_000553.4:c.970A>G NP_000544.2:p.Thr324Ala WRN EPCAM 2 47601106 C/C 33.39 NM_002354.2 missense_variant NM_002354.2:c.344T>C NP_002345.2:p.Met115Thr NM_002354.2 missense_variant NM_002354.2:c.344T>C NP_002345.2:p.Met115Thr EPCAM FANCD2 3 10116301 A/C 0 NM_033084.3 missense_variant NM_033084.3:c.2803A>C NP_149075.2:p.Ile935Leu NM_033084.3 missense_variant NM_033084.3:c.2803A>C NP_149075.2:p.Ile935Leu FANCD2 ATM 11 108121636 A/C 0.04 NM_000051.3 missense_variant NM_000051.3:c.1444A>C NP_000042.3:p.Lys482Gln NM_000051.3 missense_variant NM_000051.3:c.1444A>C NP_000042.3:p.Lys482Gln ATM TSC2 16 2103392 A/T 0.06 NM_000548.3 missense_variant NM_000548.3:c.275A>T NP_000539.2:p.Glu92Val NM_000548.3 missense_variant NM_000548.3:c.275A>T NP_000539.2:p.Glu92Val TSC2 MSH2 2 47643457 G/A 0.62 NM_000251.2 missense_variant NM_000251.2:c.965G>A NP_000242.1:p.Gly322Asp NM_000251.2 missense_variant NM_000251.2:c.965G>A NP_000242.1:p.Gly322Asp MSH2 SLX4 16 3639977 G/A 4.11 NM_032444.2 missense_variant NM_032444.2:c.3662C>T NP_115820.2:p.Ala1221Val NM_032444.2 missense_variant NM_032444.2:c.3662C>T NP_115820.2:p.Ala1221Val SLX4 SLX4 16 3640784 G/A 4.11 NM_032444.2 missense_variant NM_032444.2:c.2855C>T NP_115820.2:p.Ala952Val NM_032444.2 missense_variant NM_032444.2:c.2855C>T NP_115820.2:p.Ala952Val SLX4 SLX4 16 3640785 C/T 6.71 NM_032444.2 missense_variant NM_032444.2:c.2854G>A NP_115820.2:p.Ala952Thr NM_032444.2 missense_variant NM_032444.2:c.2854G>A NP_115820.2:p.Ala952Thr SLX4 SLX4 16 3650987 T/C 5.45 NM_032444.2 missense_variant NM_032444.2:c.1156A>G NP_115820.2:p.Met386Val NM_032444.2 missense_variant NM_032444.2:c.1156A>G NP_115820.2:p.Met386Val SLX4 SLX4 16 3656625 G/A 5.97 NM_032444.2 missense_variant NM_032444.2:c.610C>T NP_115820.2:p.Arg204Cys NM_032444.2 missense_variant NM_032444.2:c.610C>T NP_115820.2:p.Arg204Cys SLX4 SLX4 16 3647692 A/C 5.49 NM_032444.2 missense_variant NM_032444.2:c.1371T>G NP_115820.2:p.Asn457Lys NM_032444.2 missense_variant NM_032444.2:c.1371T>G NP_115820.2:p.Asn457Lys SLX4 SLX4 16 3640274 G/A 23.96 NM_032444.2 missense_variant NM_032444.2:c.3365C>T NP_115820.2:p.Pro1122Leu NM_032444.2 missense_variant NM_032444.2:c.3365C>T NP_115820.2:p.Pro1122Leu SLX4 ALK 2 29519784 A/G 0 NM_004304.4 missense_variant NM_004304.4:c.1787T>C NP_004295.2:p.Met596Thr NM_004304.4 missense_variant NM_004304.4:c.1787T>C NP_004295.2:p.Met596Thr ALK XPC 3 14190319 C/T 0 NM_004628.4 missense_variant NM_004628.4:c.2245G>A NP_004619.3:p.Gly749Arg NM_004628.4 missense_variant NM_004628.4:c.2245G>A NP_004619.3:p.Gly749Arg XPC TSC1 9 135781022 A/G 0 NM_000368.4 missense_variant NM_000368.4:c.1943T>C NP_000359.1:p.Val648Ala NM_000368.4 missense_variant NM_000368.4:c.1943T>C NP_000359.1:p.Val648Ala TSC1 ATM 11 108178689 G/A 0 NM_000051.3 missense_variant NM_000051.3:c.5740G>A NP_000042.3:p.Asp1914Asn NM_000051.3 missense_variant NM_000051.3:c.5740G>A NP_000042.3:p.Asp1914Asn ATM SLX4 16 3645613 C/T 0 NM_032444.2 missense_variant NM_032444.2:c.2006G>A NP_115820.2:p.Arg669His NM_032444.2 missense_variant NM_032444.2:c.2006G>A NP_115820.2:p.Arg669His SLX4 NBN 8 90983460 G/A 0.1 NM_002485.4 missense_variant NM_002485.4:c.643C>T NP_002476.2:p.Arg215Trp NM_002485.4 missense_variant NM_002485.4:c.643C>T NP_002476.2:p.Arg215Trp NBN BRCA1 17 41244429 C/T 0.98 NM_007300.3 missense_variant NM_007300.3:c.3119G>A NP_009231.2:p.Ser1040Asn NM_007294.3 missense_variant NM_007294.3:c.3119G>A NP_009225.1:p.Ser1040Asn BRCA1 FANCI 15 89838318 A/T 5.95 NM_001113378.1 missense_variant NM_001113378.1:c.2629A>T NP_001106849.1:p.Ile877Leu NM_001113378.1 missense_variant NM_001113378.1:c.2629A>T NP_001106849.1:p.Ile877Leu FANCI ERCC2 19 45867259 T/T 19.45 NM_000400.3 missense_variant NM_000400.3:c.934G>A NP_000391.1:p.Asp312Asn NM_000400.3 missense_variant NM_000400.3:c.934G>A NP_000391.1:p.Asp312Asn ERCC2 MET 7 116397532 A/G 0 NM_001127500.1 missense_variant NM_001127500.1:c.1904A>G NP_001120972.1:p.Asn635Ser NM_000245.2 missense_variant NM_000245.2:c.1904A>G NP_000236.2:p.Asn635Ser MET ERCC4 16 14029516 G/C 0.1 NM_005236.2 missense_variant NM_005236.2:c.1727G>C NP_005227.1:p.Arg576Thr NM_005236.2 missense_variant NM_005236.2:c.1727G>C NP_005227.1:p.Arg576Thr ERCC4 FANCI 15 89828441 C/T 0.2 NM_001113378.1 missense_variant NM_001113378.1:c.1813C>T NP_001106849.1:p.Leu605Phe NM_001113378.1 missense_variant NM_001113378.1:c.1813C>T NP_001106849.1:p.Leu605Phe FANCI SBDS 7 66453476 A/G 1.7 NM_016038.2 missense_variant NM_016038.2:c.635T>C NP_057122.2:p.Ile212Thr NM_016038.2 missense_variant NM_016038.2:c.635T>C NP_057122.2:p.Ile212Thr SBDS BRCA2 13 32906729 C/C 24.94 NM_000059.3 missense_variant NM_000059.3:c.1114A>C NP_000050.2:p.Asn372His NM_000059.3 missense_variant NM_000059.3:c.1114A>C NP_000050.2:p.Asn372His BRCA2 CDH1 16 68863644 C/T 0 NM_004360.3 missense_variant NM_004360.3:c.2383C>T NP_004351.1:p.Pro795Ser NM_004360.3 missense_variant NM_004360.3:c.2383C>T NP_004351.1:p.Pro795Ser CDH1 FANCA 16 89831407 C/T 0 NM_000135.2 missense_variant NM_000135.2:c.2669G>A NP_000126.2:p.Ser890Asn NM_000135.2 missense_variant NM_000135.2:c.2669G>A NP_000126.2:p.Ser890Asn FANCA FANCI 15 89803950 T/T 4.63 NM_001113378.1 missense_variant NM_001113378.1:c.164C>T NP_001106849.1:p.Pro55Leu NM_001113378.1 missense_variant NM_001113378.1:c.164C>T NP_001106849.1:p.Pro55Leu FANCI MSH6 2 48028136 G/A 0 NM_000179.2 missense_variant NM_000179.2:c.3014G>A NP_000170.1:p.Arg1005Gln NM_000179.2 missense_variant NM_000179.2:c.3014G>A NP_000170.1:p.Arg1005Gln MSH6 MSH6 2 48030646 C/A 0 NM_000179.2 missense_variant NM_000179.2:c.3260C>A NP_000170.1:p.Pro1087His NM_000179.2 missense_variant NM_000179.2:c.3260C>A NP_000170.1:p.Pro1087His MSH6 RET 10 43610119 A/A 16.91 NM_020975.4 missense_variant NM_020975.4:c.2071G>A NP_066124.1:p.Gly691Ser NM_020975.4 missense_variant NM_020975.4:c.2071G>A NP_066124.1:p.Gly691Ser RET WRN 8 30946411 T/A 0 NM_000553.4 missense_variant NM_000553.4:c.1582T>A NP_000544.2:p.Leu528Met NM_000553.4 missense_variant NM_000553.4:c.1582T>A NP_000544.2:p.Leu528Met WRN FH 1 241663805 T/C 0 NM_000143.3 missense_variant NM_000143.3:c.1322A>G NP_000134.2:p.Asn441Ser NM_000143.3 missense_variant NM_000143.3:c.1322A>G NP_000134.2:p.Asn441Ser FH BIVM-ERCC5,ERCC5 13 103510737 G/A 0.46 NM_001204425.1 missense_variant NM_001204425.1:c.2003G>A NP_001191354.1:p.Arg668His NM_000123.3 missense_variant NM_000123.3:c.641G>A NP_000114.2:p.Arg214His ERCC5 MET 7 116340262 A/G 3.29 NM_001127500.1 missense_variant NM_001127500.1:c.1124A>G NP_001120972.1:p.Asn375Ser NM_000245.2 missense_variant NM_000245.2:c.1124A>G NP_000236.2:p.Asn375Ser MET FANCM 14 45636328 A/G 0.66 NM_020937.2 missense_variant NM_020937.2:c.1964A>G NP_065988.1:p.Asn655Ser NM_020937.2 missense_variant NM_020937.2:c.1964A>G NP_065988.1:p.Asn655Ser FANCM PMS2 7 6026988 A/A 35.82 NM_000535.5 missense_variant NM_000535.5:c.1408C>T NP_000526.1:p.Pro470Ser NM_000535.5 missense_variant NM_000535.5:c.1408C>T NP_000526.1:p.Pro470Ser PMS2 AIP 11 67250676 G/A 0.06 NM_003977.2 missense_variant NM_003977.2:c.47G>A NP_003968.2:p.Arg16His NM_003977.2 missense_variant NM_003977.2:c.47G>A NP_003968.2:p.Arg16His AIP PALB2 16 23635370 C/T 0.1 NM_024675.3 missense_variant NM_024675.3:c.2794G>A NP_078951.2:p.Val932Met NM_024675.3 missense_variant NM_024675.3:c.2794G>A NP_078951.2:p.Val932Met PALB2 ATM 11 108175463 A/T 0.18 NM_000051.3 missense_variant NM_000051.3:c.5558A>T NP_000042.3:p.Asp1853Val NM_000051.3 missense_variant NM_000051.3:c.5558A>T NP_000042.3:p.Asp1853Val ATM DICER1 14 95599776 T/C 0.08 NM_177438.2 missense_variant NM_177438.2:c.20A>G NP_803187.1:p.Gln7Arg NM_177438.2 missense_variant NM_177438.2:c.20A>G NP_803187.1:p.Gln7Arg DICER1 NSD1 5 176637240 G/T 22.86 NM_022455.4 missense_variant NM_022455.4:c.1840G>T NP_071900.2:p.Val614Leu NM_022455.4 missense_variant NM_022455.4:c.1840G>T NP_071900.2:p.Val614Leu NSD1 FANCA 16 89813093 G/C 0.18 NM_000135.2 missense_variant NM_000135.2:c.3412C>G NP_000126.2:p.Leu1138Val NM_000135.2 missense_variant NM_000135.2:c.3412C>G NP_000126.2:p.Leu1138Val FANCA DICER1 14 95574253 C/T 0.1 NM_177438.2 missense_variant NM_177438.2:c.2614G>A NP_803187.1:p.Ala872Thr NM_177438.2 missense_variant NM_177438.2:c.2614G>A NP_803187.1:p.Ala872Thr DICER1 FANCF 11 22646984 C/T 0.34 NM_022725.3 missense_variant NM_022725.3:c.373G>A NP_073562.1:p.Asp125Asn NM_022725.3 missense_variant NM_022725.3:c.373G>A NP_073562.1:p.Asp125Asn FANCF PTCH1 9 98209594 A/A 39.68 NM_000264.3 missense_variant NM_000264.3:c.3944C>T NP_000255.2:p.Pro1315Leu NM_000264.3 missense_variant NM_000264.3:c.3944C>T NP_000255.2:p.Pro1315Leu PTCH1 EGFR 7 55273231 G/C 0 NM_005228.3 missense_variant NM_005228.3:c.3554G>C NP_005219.2:p.Gly1185Ala NM_005228.3 missense_variant NM_005228.3:c.3554G>C NP_005219.2:p.Gly1185Ala EGFR DIS3L2 2 232952240 A/G 0.04 NM_152383.4 missense_variant NM_152383.4:c.410A>G NP_689596.4:p.Tyr137Cys NM_152383.4 missense_variant NM_152383.4:c.410A>G NP_689596.4:p.Tyr137Cys DIS3L2 XPC 3 14199887 A/A 23.3 NM_004628.4 missense_variant NM_004628.4:c.1496C>T NP_004619.3:p.Ala499Val NM_004628.4 missense_variant NM_004628.4:c.1496C>T NP_004619.3:p.Ala499Val XPC RHBDF2 17 74475024 G/A 23.48 NM_024599.5 missense_variant NM_024599.5:c.623C>T NP_078875.4:p.Pro208Leu NM_001005498.3 missense_variant NM_001005498.3:c.536C>T NP_001005498.2:p.Pro179Leu RHBDF2 WRN 8 30938692 G/T 0.04 NM_000553.4 missense_variant NM_000553.4:c.1149G>T NP_000544.2:p.Leu383Phe NM_000553.4 missense_variant NM_000553.4:c.1149G>T NP_000544.2:p.Leu383Phe WRN WRN 8 30998961 G/A 0.08 NM_000553.4 missense_variant NM_000553.4:c.2983G>A NP_000544.2:p.Ala995Thr NM_000553.4 missense_variant NM_000553.4:c.2983G>A NP_000544.2:p.Ala995Thr WRN XPC 3 14220023 G/C 6.51 NM_004628.4 missense_variant NM_004628.4:c.46C>G NP_004619.3:p.Leu16Val NM_004628.4 missense_variant NM_004628.4:c.46C>G NP_004619.3:p.Leu16Val XPC BIVM-ERCC5,ERCC5 13 103528002 C/C 36.14 NM_001204425.1 missense_variant NM_001204425.1:c.4672G>C NP_001191354.1:p.Asp1558His NM_000123.3 missense_variant NM_000123.3:c.3310G>C NP_000114.2:p.Asp1104His ERCC5 WRN 8 30938704 A/A 4.69 NM_000553.4 missense_variant NM_000553.4:c.1161G>A NP_000544.2:p.Met387Ile NM_000553.4 missense_variant NM_000553.4:c.1161G>A NP_000544.2:p.Met387Ile WRN FANCM 14 45658024 C/T 0.62 NM_020937.2 missense_variant NM_020937.2:c.4799C>T NP_065988.1:p.Thr1600Ile NM_020937.2 missense_variant NM_020937.2:c.4799C>T NP_065988.1:p.Thr1600Ile FANCM BRCA2 13 32906480 A/C 7.37 NM_000059.3 missense_variant NM_000059.3:c.865A>C NP_000050.2:p.Asn289His NM_000059.3 missense_variant NM_000059.3:c.865A>C NP_000050.2:p.Asn289His BRCA2 BRCA2 13 32911463 A/G 8.01 NM_000059.3 missense_variant NM_000059.3:c.2971A>G NP_000050.2:p.Asn991Asp NM_000059.3 missense_variant NM_000059.3:c.2971A>G NP_000050.2:p.Asn991Asp BRCA2 PMS2 7 6026530 C/T 0.82 NM_000535.5 missense_variant NM_000535.5:c.1866G>A NP_000526.1:p.Met622Ile NM_000535.5 missense_variant NM_000535.5:c.1866G>A NP_000526.1:p.Met622Ile PMS2 MET 7 116411990 C/T 0.34 NM_001127500.1 missense_variant NM_001127500.1:c.3029C>T NP_001120972.1:p.Thr1010Ile NM_000245.2 missense_variant NM_000245.2:c.2975C>T NP_000236.2:p.Thr992Ile MET RET 10 43596137 G/A 0.04 NM_020975.4 missense_variant NM_020975.4:c.304G>A NP_066124.1:p.Asp102Asn NM_020975.4 missense_variant NM_020975.4:c.304G>A NP_066124.1:p.Asp102Asn RET SLX4 16 3639771 G/T 2.24 NM_032444.2 missense_variant NM_032444.2:c.3868C>A NP_115820.2:p.His1290Asn NM_032444.2 missense_variant NM_032444.2:c.3868C>A NP_115820.2:p.His1290Asn SLX4 MSH6 2 48025785 A/C 0 NM_000179.2 missense_variant NM_000179.2:c.663A>C NP_000170.1:p.Glu221Asp NM_000179.2 missense_variant NM_000179.2:c.663A>C NP_000170.1:p.Glu221Asp MSH6 FANCE 6 35423886 C/T 3.53 NM_021922.2 missense_variant NM_021922.2:c.611C>T NP_068741.1:p.Ser204Leu NM_021922.2 missense_variant NM_021922.2:c.611C>T NP_068741.1:p.Ser204Leu FANCE NBN 8 90965627 C/T 0.24 NM_002485.4 missense_variant NM_002485.4:c.1690G>A NP_002476.2:p.Glu564Lys NM_002485.4 missense_variant NM_002485.4:c.1690G>A NP_002476.2:p.Glu564Lys NBN FANCM 14 45644816 A/C 0 NM_020937.2 missense_variant NM_020937.2:c.2859A>C NP_065988.1:p.Lys953Asn NM_020937.2 missense_variant NM_020937.2:c.2859A>C NP_065988.1:p.Lys953Asn FANCM FANCM 14 45645409 C/T 0 NM_020937.2 missense_variant NM_020937.2:c.3452C>T NP_065988.1:p.Pro1151Leu NM_020937.2 missense_variant NM_020937.2:c.3452C>T NP_065988.1:p.Pro1151Leu FANCM CHEK2 22 29121087 A/G 0.1 NM_001005735.1 missense_variant NM_001005735.1:c.599T>C NP_001005735.1:p.Ile200Thr NM_007194.3 missense_variant NM_007194.3:c.470T>C NP_009125.1:p.Ile157Thr CHEK2 ALK 2 29416152 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.4801G>A NP_004295.2:p.Ala1601Thr NM_004304.4 missense_variant NM_004304.4:c.4801G>A NP_004295.2:p.Ala1601Thr ALK ERCC3 2 128046416 G/A 0.04 NM_000122.1 missense_variant NM_000122.1:c.847C>T NP_000113.1:p.Arg283Cys NM_000122.1 missense_variant NM_000122.1:c.847C>T NP_000113.1:p.Arg283Cys ERCC3 FANCD2 3 10106532 T/T 0 NM_033084.3 missense_variant NM_033084.3:c.2141C>T NP_149075.2:p.Pro714Leu NM_033084.3 missense_variant NM_033084.3:c.2141C>T NP_149075.2:p.Pro714Leu FANCD2 NBN 8 90958378 T/G 0.02 NM_002485.4 missense_variant NM_002485.4:c.2060A>C NP_002476.2:p.Lys687Thr NM_002485.4 missense_variant NM_002485.4:c.2060A>C NP_002476.2:p.Lys687Thr NBN RET 10 43620335 C/T 2.2 NM_020975.4 missense_variant NM_020975.4:c.2944C>T NP_066124.1:p.Arg982Cys NM_020975.4 missense_variant NM_020975.4:c.2944C>T NP_066124.1:p.Arg982Cys RET PRF1 10 72360387 A/A 1.32 NM_005041.4 missense_variant NM_005041.4:c.272C>T NP_005032.2:p.Ala91Val NM_005041.4 missense_variant NM_005041.4:c.272C>T NP_005032.2:p.Ala91Val PRF1 CDH1 16 68845646 G/A 0.04 NM_004360.3 missense_variant NM_004360.3:c.892G>A NP_004351.1:p.Ala298Thr NM_004360.3 missense_variant NM_004360.3:c.892G>A NP_004351.1:p.Ala298Thr CDH1 WRN 8 30921935 G/A 7.43 NM_000553.4 missense_variant NM_000553.4:c.340G>A NP_000544.2:p.Val114Ile NM_000553.4 missense_variant NM_000553.4:c.340G>A NP_000544.2:p.Val114Ile WRN BRCA2 13 32930688 G/T 0 NM_000059.3 missense_variant NM_000059.3:c.7559G>T NP_000050.2:p.Arg2520Leu NM_000059.3 missense_variant NM_000059.3:c.7559G>T NP_000050.2:p.Arg2520Leu BRCA2 BIVM-ERCC5,ERCC5 13 103515085 C/C 4.23 NM_001204425.1 missense_variant NM_001204425.1:c.2948G>C NP_001191354.1:p.Cys983Ser NM_000123.3 missense_variant NM_000123.3:c.1586G>C NP_000114.2:p.Cys529Ser ERCC5 FANCI 15 89835937 A/G 0.38 NM_001113378.1 missense_variant NM_001113378.1:c.2011A>G NP_001106849.1:p.Ile671Val NM_001113378.1 missense_variant NM_001113378.1:c.2011A>G NP_001106849.1:p.Ile671Val FANCI FANCI 15 89838293 A/C 0.38 NM_001113378.1 missense_variant NM_001113378.1:c.2604A>C NP_001106849.1:p.Glu868Asp NM_001113378.1 missense_variant NM_001113378.1:c.2604A>C NP_001106849.1:p.Glu868Asp FANCI RECQL4 8 145741787 G/A 0.06 NM_004260.3 missense_variant NM_004260.3:c.716C>T NP_004251.3:p.Ala239Val NM_004260.3 missense_variant NM_004260.3:c.716C>T NP_004251.3:p.Ala239Val RECQL4 DIS3L2 2 233127939 G/A 1.5 NM_152383.4 missense_variant NM_152383.4:c.1448G>A NP_689596.4:p.Arg483Gln NM_152383.4 missense_variant NM_152383.4:c.1448G>A NP_689596.4:p.Arg483Gln DIS3L2 ATM 11 108124761 T/C 0.44 NM_000051.3 missense_variant NM_000051.3:c.2119T>C NP_000042.3:p.Ser707Pro NM_000051.3 missense_variant NM_000051.3:c.2119T>C NP_000042.3:p.Ser707Pro ATM MSH6 2 48010488 A/A 20.09 NM_000179.2 missense_variant NM_000179.2:c.116G>A NP_000170.1:p.Gly39Glu NM_000179.2 missense_variant NM_000179.2:c.116G>A NP_000170.1:p.Gly39Glu MSH6 BRCA2 13 32937456 A/G 0.08 NM_000059.3 missense_variant NM_000059.3:c.8117A>G NP_000050.2:p.Asn2706Ser NM_000059.3 missense_variant NM_000059.3:c.8117A>G NP_000050.2:p.Asn2706Ser BRCA2 TSC2 16 2104312 G/T 0 NM_000548.3 missense_variant NM_000548.3:c.352G>T NP_000539.2:p.Val118Phe NM_000548.3 missense_variant NM_000548.3:c.352G>T NP_000539.2:p.Val118Phe TSC2 RUNX1 21 36259324 A/G 1.04 NM_001754.4 missense_variant NM_001754.4:c.167T>C NP_001745.2:p.Leu56Ser NM_001754.4 missense_variant NM_001754.4:c.167T>C NP_001745.2:p.Leu56Ser RUNX1 BAP1 3 52442555 T/C 0 NM_004656.3 missense_variant NM_004656.3:c.190A>G NP_004647.1:p.Thr64Ala NM_004656.3 missense_variant NM_004656.3:c.190A>G NP_004647.1:p.Thr64Ala BAP1 NF1 17 29556201 C/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.2568C>G NP_001035957.1:p.Ser856Arg NM_000267.3 missense_variant NM_000267.3:c.2568C>G NP_000258.1:p.Ser856Arg NF1 CHEK2 22 29091142 C/T 0 NM_001005735.1 missense_variant NM_001005735.1:c.1477G>A NP_001005735.1:p.Glu493Lys NM_007194.3 missense_variant NM_007194.3:c.1348G>A NP_009125.1:p.Glu450Lys CHEK2 GATA2 3 128204951 T/T 23.28 NM_032638.4 missense_variant NM_032638.4:c.490G>A NP_116027.2:p.Ala164Thr NM_032638.4 missense_variant NM_032638.4:c.490G>A NP_116027.2:p.Ala164Thr GATA2 BRCA2 13 32913420 T/C 0 NM_000059.3 missense_variant NM_000059.3:c.4928T>C NP_000050.2:p.Val1643Ala NM_000059.3 missense_variant NM_000059.3:c.4928T>C NP_000050.2:p.Val1643Ala BRCA2 CDH1 16 68862107 G/T 0 NM_004360.3 missense_variant NM_004360.3:c.2195G>T NP_004351.1:p.Arg732Leu NM_004360.3 missense_variant NM_004360.3:c.2195G>T NP_004351.1:p.Arg732Leu CDH1 BIVM-ERCC5,ERCC5 13 103528048 C/T 0.24 NM_001204425.1 missense_variant NM_001204425.1:c.4718C>T NP_001191354.1:p.Ala1573Val NM_000123.3 missense_variant NM_000123.3:c.3356C>T NP_000114.2:p.Ala1119Val ERCC5 FANCE 6 35434105 A/C 0 NM_021922.2 missense_variant NM_021922.2:c.1594A>C NP_068741.1:p.Lys532Gln NM_021922.2 missense_variant NM_021922.2:c.1594A>C NP_068741.1:p.Lys532Gln FANCE SUFU 10 104359271 G/A 0 NM_016169.3 missense_variant NM_016169.3:c.992G>A NP_057253.2:p.Arg331Gln NM_016169.3 missense_variant NM_016169.3:c.992G>A NP_057253.2:p.Arg331Gln SUFU APC 5 112177122 G/A 0 NM_000038.5 missense_variant NM_000038.5:c.5831G>A NP_000029.2:p.Gly1944Glu NM_000038.5 missense_variant NM_000038.5:c.5831G>A NP_000029.2:p.Gly1944Glu APC BRCA2 13 32911547 C/G 0.02 NM_000059.3 missense_variant NM_000059.3:c.3055C>G NP_000050.2:p.Leu1019Val NM_000059.3 missense_variant NM_000059.3:c.3055C>G NP_000050.2:p.Leu1019Val BRCA2 ERCC4 16 14038659 T/C 6.11 NM_005236.2 missense_variant NM_005236.2:c.1984T>C NP_005227.1:p.Ser662Pro NM_005236.2 missense_variant NM_005236.2:c.1984T>C NP_005227.1:p.Ser662Pro ERCC4 ALK 2 29416753 T/G 0 NM_004304.4 missense_variant NM_004304.4:c.4200A>C NP_004295.2:p.Glu1400Asp NM_004304.4 missense_variant NM_004304.4:c.4200A>C NP_004295.2:p.Glu1400Asp ALK TSC1 9 135779052 G/A 0.14 NM_000368.4 missense_variant NM_000368.4:c.2194C>T NP_000359.1:p.His732Tyr NM_000368.4 missense_variant NM_000368.4:c.2194C>T NP_000359.1:p.His732Tyr TSC1 RB1 13 48939065 T/A 0 NM_000321.2 missense_variant NM_000321.2:c.897T>A NP_000312.2:p.Phe299Leu NM_000321.2 missense_variant NM_000321.2:c.897T>A NP_000312.2:p.Phe299Leu RB1 FANCM 14 45644349 A/G 0 NM_020937.2 missense_variant NM_020937.2:c.2392A>G NP_065988.1:p.Arg798Gly NM_020937.2 missense_variant NM_020937.2:c.2392A>G NP_065988.1:p.Arg798Gly FANCM FANCA 16 89839766 G/C 7.41 NM_000135.2 missense_variant NM_000135.2:c.1927C>G NP_000126.2:p.Pro643Ala NM_000135.2 missense_variant NM_000135.2:c.1927C>G NP_000126.2:p.Pro643Ala FANCA FANCA 16 89857935 G/A 7.05 NM_000135.2 missense_variant NM_000135.2:c.1235C>T NP_000126.2:p.Ala412Val NM_000135.2 missense_variant NM_000135.2:c.1235C>T NP_000126.2:p.Ala412Val FANCA FANCA 16 89815152 G/A 2.33 NM_000135.2 missense_variant NM_000135.2:c.3263C>T NP_000126.2:p.Ser1088Phe NM_000135.2 missense_variant NM_000135.2:c.3263C>T NP_000126.2:p.Ser1088Phe FANCA EZH2 7 148516722 T/C 0.02 NM_004456.4 missense_variant NM_004456.4:c.965A>G NP_004447.2:p.Asn322Ser NM_004456.4 missense_variant NM_004456.4:c.965A>G NP_004447.2:p.Asn322Ser EZH2 FANCM 14 45650888 C/T 0 NM_020937.2 missense_variant NM_020937.2:c.4366C>T NP_065988.1:p.Arg1456Cys NM_020937.2 missense_variant NM_020937.2:c.4366C>T NP_065988.1:p.Arg1456Cys FANCM SLX4 16 3647391 G/A 0 NM_032444.2 missense_variant NM_032444.2:c.1672C>T NP_115820.2:p.Arg558Trp NM_032444.2 missense_variant NM_032444.2:c.1672C>T NP_115820.2:p.Arg558Trp SLX4 DDB2 11 47259728 G/A 0.1 NM_000107.2 missense_variant NM_000107.2:c.1228G>A NP_000098.1:p.Ala410Thr NM_000107.2 missense_variant NM_000107.2:c.1228G>A NP_000098.1:p.Ala410Thr DDB2 ATM 11 108122700 T/C 0.26 NM_000051.3 missense_variant NM_000051.3:c.1744T>C NP_000042.3:p.Phe582Leu NM_000051.3 missense_variant NM_000051.3:c.1744T>C NP_000042.3:p.Phe582Leu ATM BIVM-ERCC5,ERCC5 13 103520565 A/G 0.64 NM_001204425.1 missense_variant NM_001204425.1:c.3998A>G NP_001191354.1:p.Asn1333Ser NM_000123.3 missense_variant NM_000123.3:c.2636A>G NP_000114.2:p.Asn879Ser ERCC5 ERCC4 16 14042077 A/G 0.58 NM_005236.2 missense_variant NM_005236.2:c.2624A>G NP_005227.1:p.Glu875Gly NM_005236.2 missense_variant NM_005236.2:c.2624A>G NP_005227.1:p.Glu875Gly ERCC4 ALK 2 29450448 G/A 0 NM_004304.4 missense_variant NM_004304.4:c.2906C>T NP_004295.2:p.Ala969Val NM_004304.4 missense_variant NM_004304.4:c.2906C>T NP_004295.2:p.Ala969Val ALK KIT 4 55589799 A/T 0 NM_000222.2 missense_variant NM_000222.2:c.1281A>T NP_000213.1:p.Gln427His NM_000222.2 missense_variant NM_000222.2:c.1281A>T NP_000213.1:p.Gln427His KIT APC 5 112102942 C/G 0 NM_000038.5 missense_variant NM_000038.5:c.277C>G NP_000029.2:p.Leu93Val NM_000038.5 missense_variant NM_000038.5:c.277C>G NP_000029.2:p.Leu93Val APC PTCH1 9 98231110 G/A 0.12 NM_000264.3 missense_variant NM_000264.3:c.2173C>T NP_000255.2:p.Pro725Ser NM_000264.3 missense_variant NM_000264.3:c.2173C>T NP_000255.2:p.Pro725Ser PTCH1 ATM 11 108138003 T/C 0.46 NM_000051.3 missense_variant NM_000051.3:c.2572T>C NP_000042.3:p.Phe858Leu NM_000051.3 missense_variant NM_000051.3:c.2572T>C NP_000042.3:p.Phe858Leu ATM FANCM 14 45665468 G/G 10.62 NM_020937.2 missense_variant NM_020937.2:c.5434C>G NP_065988.1:p.Pro1812Ala NM_020937.2 missense_variant NM_020937.2:c.5434C>G NP_065988.1:p.Pro1812Ala FANCM FANCM 14 45650900 G/G 10.14 NM_020937.2 missense_variant NM_020937.2:c.4378A>G NP_065988.1:p.Ile1460Val NM_020937.2 missense_variant NM_020937.2:c.4378A>G NP_065988.1:p.Ile1460Val FANCM FANCM 14 45644589 T/T 23.22 NM_020937.2 missense_variant NM_020937.2:c.2632G>T NP_065988.1:p.Val878Leu NM_020937.2 missense_variant NM_020937.2:c.2632G>T NP_065988.1:p.Val878Leu FANCM GATA2 3 128204951 C/T 23.28 NM_032638.4 missense_variant NM_032638.4:c.490G>A NP_116027.2:p.Ala164Thr NM_032638.4 missense_variant NM_032638.4:c.490G>A NP_116027.2:p.Ala164Thr GATA2 AIP 11 67258382 G/A 0 NM_003977.2 missense_variant NM_003977.2:c.911G>A NP_003968.2:p.Arg304Gln NM_003977.2 missense_variant NM_003977.2:c.911G>A NP_003968.2:p.Arg304Gln AIP SLX4 16 3639059 G/A 0 NM_032444.2 missense_variant NM_032444.2:c.4580C>T NP_115820.2:p.Pro1527Leu NM_032444.2 missense_variant NM_032444.2:c.4580C>T NP_115820.2:p.Pro1527Leu SLX4 CHEK2 22 29090054 G/A 0.02 NM_001005735.1 missense_variant NM_001005735.1:c.1556C>T NP_001005735.1:p.Thr519Met NM_007194.3 missense_variant NM_007194.3:c.1427C>T NP_009125.1:p.Thr476Met CHEK2 NSD1 5 176722005 G/A 2.74 NM_022455.4 missense_variant NM_022455.4:c.7636G>A NP_071900.2:p.Ala2546Thr NM_022455.4 missense_variant NM_022455.4:c.7636G>A NP_071900.2:p.Ala2546Thr NSD1 VHL 3 10188230 C/T 0 NM_000551.3 missense_variant NM_000551.3:c.373C>T NP_000542.1:p.His125Tyr NM_000551.3 missense_variant NM_000551.3:c.373C>T NP_000542.1:p.His125Tyr VHL PRF1 10 72360291 C/T 0.02 NM_005041.4 missense_variant NM_005041.4:c.368G>A NP_005032.2:p.Arg123His NM_005041.4 missense_variant NM_005041.4:c.368G>A NP_005032.2:p.Arg123His PRF1 PALB2 16 23637715 G/A 0.12 NM_024675.3 missense_variant NM_024675.3:c.2590C>T NP_078951.2:p.Pro864Ser NM_024675.3 missense_variant NM_024675.3:c.2590C>T NP_078951.2:p.Pro864Ser PALB2 BRCA1 17 41226488 C/A 0.06 NM_007300.3 missense_variant NM_007300.3:c.4598G>T NP_009231.2:p.Ser1533Ile NM_007294.3 missense_variant NM_007294.3:c.4535G>T NP_009225.1:p.Ser1512Ile BRCA1 XPC 3 14214524 G/A 1 NM_004628.4 missense_variant NM_004628.4:c.142C>T NP_004619.3:p.Leu48Phe NM_004628.4 missense_variant NM_004628.4:c.142C>T NP_004619.3:p.Leu48Phe XPC CEP57 11 95564223 G/C 0 NM_014679.4 missense_variant NM_014679.4:c.1306G>C NP_055494.2:p.Glu436Gln NM_014679.4 missense_variant NM_014679.4:c.1306G>C NP_055494.2:p.Glu436Gln CEP57 NF1 17 29541589 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.1513A>G NP_001035957.1:p.Lys505Glu NM_000267.3 missense_variant NM_000267.3:c.1513A>G NP_000258.1:p.Lys505Glu NF1 CHEK2 22 29085139 G/A 0 NM_001005735.1 missense_variant NM_001005735.1:c.1655C>T NP_001005735.1:p.Pro552Leu NM_007194.3 missense_variant NM_007194.3:c.1526C>T NP_009125.1:p.Pro509Leu CHEK2 FANCL 2 58459232 G/A 0.18 NM_001114636.1 missense_variant NM_001114636.1:c.112C>T NP_001108108.1:p.Leu38Phe NM_018062.3 missense_variant NM_018062.3:c.112C>T NP_060532.2:p.Leu38Phe FANCL PMS1 2 190708712 G/A 0.8 NM_000534.4 missense_variant NM_000534.4:c.605G>A NP_000525.1:p.Arg202Lys NM_000534.4 missense_variant NM_000534.4:c.605G>A NP_000525.1:p.Arg202Lys PMS1 FANCD2,FANCD2OS 3 10127561 G/A 0 NM_033084.3 missense_variant NM_033084.3:c.3290G>A NP_149075.2:p.Arg1097Gln NM_033084.3 missense_variant NM_033084.3:c.3290G>A NP_149075.2:p.Arg1097Gln FANCD2 FANCM 14 45658449 A/G 0.38 NM_020937.2 missense_variant NM_020937.2:c.5224A>G NP_065988.1:p.Ile1742Val NM_020937.2 missense_variant NM_020937.2:c.5224A>G NP_065988.1:p.Ile1742Val FANCM RUNX1 21 36259324 G/G 1.04 NM_001754.4 missense_variant NM_001754.4:c.167T>C NP_001745.2:p.Leu56Ser NM_001754.4 missense_variant NM_001754.4:c.167T>C NP_001745.2:p.Leu56Ser RUNX1 ALK 2 29606645 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.1235G>A NP_004295.2:p.Arg412His NM_004304.4 missense_variant NM_004304.4:c.1235G>A NP_004295.2:p.Arg412His ALK XPC 3 14208719 G/A 0 NM_004628.4 missense_variant NM_004628.4:c.571C>T NP_004619.3:p.Arg191Trp NM_004628.4 missense_variant NM_004628.4:c.571C>T NP_004619.3:p.Arg191Trp XPC BUB1B 15 40477441 A/T 0 NM_001211.5 missense_variant NM_001211.5:c.827A>T NP_001202.4:p.Asp276Val NM_001211.5 missense_variant NM_001211.5:c.827A>T NP_001202.4:p.Asp276Val BUB1B BUB1B 15 40498503 T/C 9.28 NM_001211.5 missense_variant NM_001211.5:c.1853T>C NP_001202.4:p.Val618Ala NM_001211.5 missense_variant NM_001211.5:c.1853T>C NP_001202.4:p.Val618Ala BUB1B FANCA 16 89825107 G/C 0.04 NM_000135.2 missense_variant NM_000135.2:c.2859C>G NP_000126.2:p.Asp953Glu NM_000135.2 missense_variant NM_000135.2:c.2859C>G NP_000126.2:p.Asp953Glu FANCA BRCA2 13 32912750 G/T 0.4 NM_000059.3 missense_variant NM_000059.3:c.4258G>T NP_000050.2:p.Asp1420Tyr NM_000059.3 missense_variant NM_000059.3:c.4258G>T NP_000050.2:p.Asp1420Tyr BRCA2 BLM 15 91292689 A/T 0 NM_000057.2 missense_variant NM_000057.2:c.191A>T NP_000048.1:p.Asp64Val NM_000057.2 missense_variant NM_000057.2:c.191A>T NP_000048.1:p.Asp64Val BLM TSC2 16 2138570 C/T 0.08 NM_000548.3 missense_variant NM_000548.3:c.5383C>T NP_000539.2:p.Arg1795Cys NM_000548.3 missense_variant NM_000548.3:c.5383C>T NP_000539.2:p.Arg1795Cys TSC2 EXT2 11 44146484 C/T 0 NM_000401.3 missense_variant NM_000401.3:c.988C>T NP_000392.3:p.Arg330Cys NM_207122.1 missense_variant NM_207122.1:c.889C>T NP_997005.1:p.Arg297Cys EXT2 FANCA 16 89877419 C/T 0 NM_000135.2 missense_variant NM_000135.2:c.344G>A NP_000126.2:p.Gly115Glu NM_000135.2 missense_variant NM_000135.2:c.344G>A NP_000126.2:p.Gly115Glu FANCA CHEK2 22 29092948 G/T 0 NM_001005735.1 missense_variant NM_001005735.1:c.1165C>A NP_001005735.1:p.Arg389Ser NM_007194.3 missense_variant NM_007194.3:c.1036C>A NP_009125.1:p.Arg346Ser CHEK2 ERCC3 2 128044351 C/T 0 NM_000122.1 missense_variant NM_000122.1:c.1270G>A NP_000113.1:p.Glu424Lys NM_000122.1 missense_variant NM_000122.1:c.1270G>A NP_000113.1:p.Glu424Lys ERCC3 NSD1 5 176637739 C/T 0.16 NM_022455.4 missense_variant NM_022455.4:c.2339C>T NP_071900.2:p.Ser780Leu NM_022455.4 missense_variant NM_022455.4:c.2339C>T NP_071900.2:p.Ser780Leu NSD1 FANCE 6 35423573 T/A 0 NM_021922.2 missense_variant NM_021922.2:c.298T>A NP_068741.1:p.Ser100Thr NM_021922.2 missense_variant NM_021922.2:c.298T>A NP_068741.1:p.Ser100Thr FANCE FLCN 17 17118598 C/T 0.08 NM_144997.5 missense_variant NM_144997.5:c.1333G>A NP_659434.2:p.Ala445Thr NM_144997.5 missense_variant NM_144997.5:c.1333G>A NP_659434.2:p.Ala445Thr FLCN PMS2 7 6026708 C/A 0.3 NM_000535.5 missense_variant NM_000535.5:c.1688G>T NP_000526.1:p.Arg563Leu NM_000535.5 missense_variant NM_000535.5:c.1688G>T NP_000526.1:p.Arg563Leu PMS2 SLX4 16 3640715 A/A 0.82 NM_032444.2 missense_variant NM_032444.2:c.2924C>T NP_115820.2:p.Pro975Leu NM_032444.2 missense_variant NM_032444.2:c.2924C>T NP_115820.2:p.Pro975Leu SLX4 SLX4 16 3640815 G/G 1.8 NM_032444.2 missense_variant NM_032444.2:c.2824G>C NP_115820.2:p.Glu942Gln NM_032444.2 missense_variant NM_032444.2:c.2824G>C NP_115820.2:p.Glu942Gln SLX4 SLX4 16 3640274 A/A 23.96 NM_032444.2 missense_variant NM_032444.2:c.3365C>T NP_115820.2:p.Pro1122Leu NM_032444.2 missense_variant NM_032444.2:c.3365C>T NP_115820.2:p.Pro1122Leu SLX4 BMPR1A 10 88681353 G/A 0.04 NM_004329.2 missense_variant NM_004329.2:c.1243G>A NP_004320.2:p.Glu415Lys NM_004329.2 missense_variant NM_004329.2:c.1243G>A NP_004320.2:p.Glu415Lys BMPR1A FANCB X 14863400 T/C 0 NM_152633.2 missense_variant NM_152633.2:c.1505A>G NP_689846.1:p.Asn502Ser NM_152633.2 missense_variant NM_152633.2:c.1505A>G NP_689846.1:p.Asn502Ser FANCB BIVM-ERCC5,ERCC5 13 103513951 A/G 3.73 NM_001204425.1 missense_variant NM_001204425.1:c.2129A>G NP_001191354.1:p.Gln710Arg NM_000123.3 missense_variant NM_000123.3:c.767A>G NP_000114.2:p.Gln256Arg ERCC5 APC 5 112178795 G/A 0.84 NM_000038.5 missense_variant NM_000038.5:c.7504G>A NP_000029.2:p.Gly2502Ser NM_000038.5 missense_variant NM_000038.5:c.7504G>A NP_000029.2:p.Gly2502Ser APC FH 1 241682946 G/A 0.56 NM_000143.3 missense_variant NM_000143.3:c.77C>T NP_000134.2:p.Pro26Leu NM_000143.3 missense_variant NM_000143.3:c.77C>T NP_000134.2:p.Pro26Leu FH BIVM-ERCC5,ERCC5 13 103515267 G/A 0.2 NM_001204425.1 missense_variant NM_001204425.1:c.3130G>A NP_001191354.1:p.Val1044Ile NM_000123.3 missense_variant NM_000123.3:c.1768G>A NP_000114.2:p.Val590Ile ERCC5 FANCD2 3 10088285 T/G 0 NM_033084.3 missense_variant NM_033084.3:c.1156T>G NP_149075.2:p.Phe386Val NM_033084.3 missense_variant NM_033084.3:c.1156T>G NP_149075.2:p.Phe386Val FANCD2 BRCA2 13 32912061 G/A 0 NM_000059.3 missense_variant NM_000059.3:c.3569G>A NP_000050.2:p.Arg1190Gln NM_000059.3 missense_variant NM_000059.3:c.3569G>A NP_000050.2:p.Arg1190Gln BRCA2 BRIP1 17 59937223 G/C 0 NM_032043.2 missense_variant NM_032043.2:c.139C>G NP_114432.2:p.Pro47Ala NM_032043.2 missense_variant NM_032043.2:c.139C>G NP_114432.2:p.Pro47Ala BRIP1 ATM 11 108178683 G/A 0 NM_000051.3 missense_variant NM_000051.3:c.5734G>A NP_000042.3:p.Val1912Ile NM_000051.3 missense_variant NM_000051.3:c.5734G>A NP_000042.3:p.Val1912Ile ATM BIVM-ERCC5,ERCC5 13 103510638 A/G 0 NM_001204425.1 missense_variant NM_001204425.1:c.1904A>G NP_001191354.1:p.His635Arg NM_000123.3 missense_variant NM_000123.3:c.542A>G NP_000114.2:p.His181Arg ERCC5 MSH6 2 48027755 T/C 0.4 NM_000179.2 missense_variant NM_000179.2:c.2633T>C NP_000170.1:p.Val878Ala NM_000179.2 missense_variant NM_000179.2:c.2633T>C NP_000170.1:p.Val878Ala MSH6 BRCA1 17 41222975 C/T 1.12 NM_007300.3 missense_variant NM_007300.3:c.5019G>A NP_009231.2:p.Met1673Ile NM_007294.3 missense_variant NM_007294.3:c.4956G>A NP_009225.1:p.Met1652Ile BRCA1 DIS3L2 2 232894725 G/T 0.02 NM_152383.4 missense_variant NM_152383.4:c.301G>T NP_689596.4:p.Ala101Ser NM_152383.4 missense_variant NM_152383.4:c.301G>T NP_689596.4:p.Ala101Ser DIS3L2 XPC 3 14199940 C/A 0.22 NM_004628.4 missense_variant NM_004628.4:c.1443G>T NP_004619.3:p.Lys481Asn NM_004628.4 missense_variant NM_004628.4:c.1443G>T NP_004619.3:p.Lys481Asn XPC XPC 3 14206994 G/T 0 NM_004628.4 missense_variant NM_004628.4:c.713C>A NP_004619.3:p.Pro238Gln NM_004628.4 missense_variant NM_004628.4:c.713C>A NP_004619.3:p.Pro238Gln XPC FANCF 11 22646398 G/A 0.5 NM_022725.3 missense_variant NM_022725.3:c.959C>T NP_073562.1:p.Pro320Leu NM_022725.3 missense_variant NM_022725.3:c.959C>T NP_073562.1:p.Pro320Leu FANCF PALB2 16 23646191 C/C 15.08 NM_024675.3 missense_variant NM_024675.3:c.1676A>G NP_078951.2:p.Gln559Arg NM_024675.3 missense_variant NM_024675.3:c.1676A>G NP_078951.2:p.Gln559Arg PALB2 WT1 11 32456795 C/G 0 NM_024426.4 missense_variant NM_024426.4:c.97G>C NP_077744.3:p.Val33Leu NM_024426.4 missense_variant NM_024426.4:c.97G>C NP_077744.3:p.Val33Leu WT1 ATM,C11ORF65 11 108201023 T/C 0 NM_000051.3 missense_variant NM_000051.3:c.7390T>C NP_000042.3:p.Cys2464Arg NM_000051.3 missense_variant NM_000051.3:c.7390T>C NP_000042.3:p.Cys2464Arg ATM FANCA 16 89816278 G/T 0 NM_000135.2 missense_variant NM_000135.2:c.3099C>A NP_000126.2:p.Asp1033Glu NM_000135.2 missense_variant NM_000135.2:c.3099C>A NP_000126.2:p.Asp1033Glu FANCA BRIP1 17 59763200 T/C 0 NM_032043.2 missense_variant NM_032043.2:c.2902A>G NP_114432.2:p.Lys968Glu NM_032043.2 missense_variant NM_032043.2:c.2902A>G NP_114432.2:p.Lys968Glu BRIP1 PRF1 10 72360594 G/A 0.02 NM_005041.4 missense_variant NM_005041.4:c.65C>T NP_005032.2:p.Pro22Leu NM_005041.4 missense_variant NM_005041.4:c.65C>T NP_005032.2:p.Pro22Leu PRF1 ERCC2 19 45867145 G/A 0.06 NM_000400.3 missense_variant NM_000400.3:c.974C>T NP_000391.1:p.Thr325Met NM_000400.3 missense_variant NM_000400.3:c.974C>T NP_000391.1:p.Thr325Met ERCC2 NF1 17 29559839 G/A 0 NM_001042492.2 missense_variant NM_001042492.2:c.3436G>A NP_001035957.1:p.Val1146Ile NM_000267.3 missense_variant NM_000267.3:c.3436G>A NP_000258.1:p.Val1146Ile NF1 PMS2 7 6022480 C/T 0.02 NM_000535.5 missense_variant NM_000535.5:c.2149G>A NP_000526.1:p.Val717Met NM_000535.5 missense_variant NM_000535.5:c.2149G>A NP_000526.1:p.Val717Met PMS2 SDHC 1 161326520 T/A 0 NM_003001.3 missense_variant NM_003001.3:c.295T>A NP_002992.1:p.Tyr99Asn NM_003001.3 missense_variant NM_003001.3:c.295T>A NP_002992.1:p.Tyr99Asn SDHC SDHC 1 161326532 G/C 0 NM_003001.3 missense_variant NM_003001.3:c.307G>C NP_002992.1:p.Val103Leu NM_003001.3 missense_variant NM_003001.3:c.307G>C NP_002992.1:p.Val103Leu SDHC ERCC3 2 128051244 C/T 0 NM_000122.1 missense_variant NM_000122.1:c.79G>A NP_000113.1:p.Glu27Lys NM_000122.1 missense_variant NM_000122.1:c.79G>A NP_000113.1:p.Glu27Lys ERCC3 BRIP1 17 59871074 C/T 0 NM_032043.2 missense_variant NM_032043.2:c.1357G>A NP_114432.2:p.Ala453Thr NM_032043.2 missense_variant NM_032043.2:c.1357G>A NP_114432.2:p.Ala453Thr BRIP1 ATM,C11ORF65 11 108201108 T/G 0 NM_000051.3 missense_variant NM_000051.3:c.7475T>G NP_000042.3:p.Leu2492Arg NM_000051.3 missense_variant NM_000051.3:c.7475T>G NP_000042.3:p.Leu2492Arg ATM BRCA1 17 41244952 G/A 0 NM_007300.3 missense_variant NM_007300.3:c.2596C>T NP_009231.2:p.Arg866Cys NM_007294.3 missense_variant NM_007294.3:c.2596C>T NP_009225.1:p.Arg866Cys BRCA1 ATM 11 108106443 T/A 6.23 NM_000051.3 missense_variant NM_000051.3:c.378T>A NP_000042.3:p.Asp126Glu NM_000051.3 missense_variant NM_000051.3:c.378T>A NP_000042.3:p.Asp126Glu ATM FANCA 16 89842176 C/G 0.12 NM_000135.2 missense_variant NM_000135.2:c.1874G>C NP_000126.2:p.Cys625Ser NM_000135.2 missense_variant NM_000135.2:c.1874G>C NP_000126.2:p.Cys625Ser FANCA TSC2 16 2120559 G/A 0.02 NM_000548.3 missense_variant NM_000548.3:c.1819G>A NP_000539.2:p.Ala607Thr NM_000548.3 missense_variant NM_000548.3:c.1819G>A NP_000539.2:p.Ala607Thr TSC2 ALK 2 30143004 G/T 0 NM_004304.4 missense_variant NM_004304.4:c.522C>A NP_004295.2:p.Phe174Leu NM_004304.4 missense_variant NM_004304.4:c.522C>A NP_004295.2:p.Phe174Leu ALK BRCA2 13 32911271 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.2779A>G NP_000050.2:p.Met927Val NM_000059.3 missense_variant NM_000059.3:c.2779A>G NP_000050.2:p.Met927Val BRCA2 BMPR1A 10 88681325 A/C 0 NM_004329.2 missense_variant NM_004329.2:c.1215A>C NP_004320.2:p.Lys405Asn NM_004329.2 missense_variant NM_004329.2:c.1215A>C NP_004320.2:p.Lys405Asn BMPR1A CDH1 16 68849467 C/T 0 NM_004360.3 missense_variant NM_004360.3:c.1370C>T NP_004351.1:p.Thr457Met NM_004360.3 missense_variant NM_004360.3:c.1370C>T NP_004351.1:p.Thr457Met CDH1 TSC1 9 135786904 G/G 13.52 NM_000368.4 missense_variant NM_000368.4:c.965T>C NP_000359.1:p.Met322Thr NM_000368.4 missense_variant NM_000368.4:c.965T>C NP_000359.1:p.Met322Thr TSC1 BLM 15 91295025 G/A 0 NM_000057.2 missense_variant NM_000057.2:c.808G>A NP_000048.1:p.Glu270Lys NM_000057.2 missense_variant NM_000057.2:c.808G>A NP_000048.1:p.Glu270Lys BLM PALB2 16 23646744 G/T 0 NM_024675.3 missense_variant NM_024675.3:c.1123C>A NP_078951.2:p.Leu375Ile NM_024675.3 missense_variant NM_024675.3:c.1123C>A NP_078951.2:p.Leu375Ile PALB2 ERCC4 16 14028081 C/T 0.22 NM_005236.2 missense_variant NM_005236.2:c.1135C>T NP_005227.1:p.Pro379Ser NM_005236.2 missense_variant NM_005236.2:c.1135C>T NP_005227.1:p.Pro379Ser ERCC4 BRCA2 13 32906766 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.1151C>T NP_000050.2:p.Ser384Phe NM_000059.3 missense_variant NM_000059.3:c.1151C>T NP_000050.2:p.Ser384Phe BRCA2 FANCC 9 98011497 G/A 0.26 NM_000136.2 missense_variant NM_000136.2:c.77C>T NP_000127.2:p.Ser26Phe NM_000136.2 missense_variant NM_000136.2:c.77C>T NP_000127.2:p.Ser26Phe FANCC BRCA1 17 41246481 C/C 2.18 NM_007300.3 missense_variant NM_007300.3:c.1067A>G NP_009231.2:p.Gln356Arg NM_007294.3 missense_variant NM_007294.3:c.1067A>G NP_009225.1:p.Gln356Arg BRCA1 MSH2 2 47698123 G/A 0 NM_000251.2 missense_variant NM_000251.2:c.1681G>A NP_000242.1:p.Glu561Lys NM_000251.2 missense_variant NM_000251.2:c.1681G>A NP_000242.1:p.Glu561Lys MSH2 GATA2 3 128205845 C/A 0 NM_032638.4 missense_variant NM_032638.4:c.30G>T NP_116027.2:p.Trp10Cys NM_032638.4 missense_variant NM_032638.4:c.30G>T NP_116027.2:p.Trp10Cys GATA2 BMPR1A 10 88681384 A/T 0 NM_004329.2 missense_variant NM_004329.2:c.1274A>T NP_004320.2:p.Tyr425Phe NM_004329.2 missense_variant NM_004329.2:c.1274A>T NP_004320.2:p.Tyr425Phe BMPR1A BRCA1 17 41219642 T/G 0 NM_007300.3 missense_variant NM_007300.3:c.5120A>C NP_009231.2:p.His1707Pro NM_007294.3 missense_variant NM_007294.3:c.5057A>C NP_009225.1:p.His1686Pro BRCA1 NF1 17 29592335 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.4813A>G NP_001035957.1:p.Ile1605Val NM_000267.3 missense_variant NM_000267.3:c.4750A>G NP_000258.1:p.Ile1584Val NF1 FANCE 6 35425339 C/T 0 NM_021922.2 missense_variant NM_021922.2:c.862C>T NP_068741.1:p.Leu288Phe NM_021922.2 missense_variant NM_021922.2:c.862C>T NP_068741.1:p.Leu288Phe FANCE ATM 11 108128241 C/G 0 NM_000051.3 missense_variant NM_000051.3:c.2284C>G NP_000042.3:p.Leu762Val NM_000051.3 missense_variant NM_000051.3:c.2284C>G NP_000042.3:p.Leu762Val ATM SLX4 16 3640461 G/C 0.02 NM_032444.2 missense_variant NM_032444.2:c.3178C>G NP_115820.2:p.Arg1060Gly NM_032444.2 missense_variant NM_032444.2:c.3178C>G NP_115820.2:p.Arg1060Gly SLX4 BRIP1 17 59924505 A/G 0.08 NM_032043.2 missense_variant NM_032043.2:c.584T>C NP_114432.2:p.Leu195Pro NM_032043.2 missense_variant NM_032043.2:c.584T>C NP_114432.2:p.Leu195Pro BRIP1 FANCA 16 89836305 G/A 0 NM_000135.2 missense_variant NM_000135.2:c.2444C>T NP_000126.2:p.Pro815Leu NM_000135.2 missense_variant NM_000135.2:c.2444C>T NP_000126.2:p.Pro815Leu FANCA APC 5 112102084 T/C 0 NM_000038.5 missense_variant NM_000038.5:c.197T>C NP_000029.2:p.Ile66Thr NM_000038.5 missense_variant NM_000038.5:c.197T>C NP_000029.2:p.Ile66Thr APC BIVM-ERCC5,ERCC5 13 103525640 A/G 0.02 NM_001204425.1 missense_variant NM_001204425.1:c.4273A>G NP_001191354.1:p.Thr1425Ala NM_000123.3 missense_variant NM_000123.3:c.2911A>G NP_000114.2:p.Thr971Ala ERCC5 PTCH1 9 98211572 T/A 7.85 NM_000264.3 missense_variant NM_000264.3:c.3583A>T NP_000255.2:p.Thr1195Ser NM_000264.3 missense_variant NM_000264.3:c.3583A>T NP_000255.2:p.Thr1195Ser PTCH1 RET 10 43606823 T/C 0 NM_020975.4 missense_variant NM_020975.4:c.1432T>C NP_066124.1:p.Cys478Arg NM_020975.4 missense_variant NM_020975.4:c.1432T>C NP_066124.1:p.Cys478Arg RET WRN 8 30969257 G/A 0 NM_000553.4 missense_variant NM_000553.4:c.2215G>A NP_000544.2:p.Val739Ile NM_000553.4 missense_variant NM_000553.4:c.2215G>A NP_000544.2:p.Val739Ile WRN FANCG 9 35078227 G/A 0.04 NM_004629.1 missense_variant NM_004629.1:c.421C>T NP_004620.1:p.Arg141Cys NM_004629.1 missense_variant NM_004629.1:c.421C>T NP_004620.1:p.Arg141Cys FANCG MSH2 2 47637246 A/G 2.48 NM_000251.2 missense_variant NM_000251.2:c.380A>G NP_000242.1:p.Asn127Ser NM_000251.2 missense_variant NM_000251.2:c.380A>G NP_000242.1:p.Asn127Ser MSH2 RECQL4 8 145742850 T/C 0.94 NM_004260.3 missense_variant NM_004260.3:c.161A>G NP_004251.3:p.Gln54Arg NM_004260.3 missense_variant NM_004260.3:c.161A>G NP_004251.3:p.Gln54Arg RECQL4 BIVM-ERCC5,ERCC5 13 103527757 T/C 0 NM_001204425.1 missense_variant NM_001204425.1:c.4427T>C NP_001191354.1:p.Met1476Thr NM_000123.3 missense_variant NM_000123.3:c.3065T>C NP_000114.2:p.Met1022Thr ERCC5 EXT2 11 44129522 T/G 0.02 NM_000401.3 missense_variant NM_000401.3:c.359T>G NP_000392.3:p.Met120Arg NM_207122.1 missense_variant NM_207122.1:c.260T>G NP_997005.1:p.Met87Arg EXT2 NSD1 5 176636854 A/C 0 NM_022455.4 missense_variant NM_022455.4:c.1454A>C NP_071900.2:p.His485Pro NM_022455.4 missense_variant NM_022455.4:c.1454A>C NP_071900.2:p.His485Pro NSD1 CEP57 11 95546706 A/G 0 NM_014679.4 missense_variant NM_014679.4:c.457A>G NP_055494.2:p.Met153Val NM_014679.4 missense_variant NM_014679.4:c.457A>G NP_055494.2:p.Met153Val CEP57 ATM,C11ORF65 11 108188136 G/A 0.28 NM_000051.3 missense_variant NM_000051.3:c.6235G>A NP_000042.3:p.Val2079Ile NM_000051.3 missense_variant NM_000051.3:c.6235G>A NP_000042.3:p.Val2079Ile ATM PMS1 2 190718999 C/T 0.08 NM_000534.4 missense_variant NM_000534.4:c.1001C>T NP_000525.1:p.Thr334Met NM_000534.4 missense_variant NM_000534.4:c.1001C>T NP_000525.1:p.Thr334Met PMS1 ERCC3 2 128017009 C/T 0.02 NM_000122.1 missense_variant NM_000122.1:c.2080G>A NP_000113.1:p.Ala694Thr NM_000122.1 missense_variant NM_000122.1:c.2080G>A NP_000113.1:p.Ala694Thr ERCC3 XPC 3 14199908 T/T 2.31 NM_004628.4 missense_variant NM_004628.4:c.1475G>A NP_004619.3:p.Arg492His NM_004628.4 missense_variant NM_004628.4:c.1475G>A NP_004619.3:p.Arg492His XPC EGFR 7 55266418 G/A 0.06 NM_005228.3 missense_variant NM_005228.3:c.2710G>A NP_005219.2:p.Val904Ile NM_005228.3 missense_variant NM_005228.3:c.2710G>A NP_005219.2:p.Val904Ile EGFR PMS1 2 190719607 G/A 0.1 NM_000534.4 missense_variant NM_000534.4:c.1609G>A NP_000525.1:p.Glu537Lys NM_000534.4 missense_variant NM_000534.4:c.1609G>A NP_000525.1:p.Glu537Lys PMS1 FANCD2 3 10089670 A/G 0 NM_033084.3 missense_variant NM_033084.3:c.1348A>G NP_149075.2:p.Ile450Val NM_033084.3 missense_variant NM_033084.3:c.1348A>G NP_149075.2:p.Ile450Val FANCD2 BRCA1 17 41215926 C/G 0.02 NM_007300.3 missense_variant NM_007300.3:c.5180G>C NP_009231.2:p.Gly1727Ala NM_007294.3 missense_variant NM_007294.3:c.5117G>C NP_009225.1:p.Gly1706Ala BRCA1 BRCA1 17 41245027 G/A 0.22 NM_007300.3 missense_variant NM_007300.3:c.2521C>T NP_009231.2:p.Arg841Trp NM_007294.3 missense_variant NM_007294.3:c.2521C>T NP_009225.1:p.Arg841Trp BRCA1 MUTYH 1 45800156 T/T 2.04 NM_001128425.1 missense_variant NM_001128425.1:c.64G>A NP_001121897.1:p.Val22Met NM_001048172.1 missense_variant NM_001048172.1:c.22G>A NP_001041637.1:p.Val8Met MUTYH FANCC 9 97912337 C/T 0 NM_000136.2 missense_variant NM_000136.2:c.554G>A NP_000127.2:p.Arg185Gln NM_000136.2 missense_variant NM_000136.2:c.554G>A NP_000127.2:p.Arg185Gln FANCC BRCA2 13 32911436 A/C 0 NM_000059.3 missense_variant NM_000059.3:c.2944A>C NP_000050.2:p.Ile982Leu NM_000059.3 missense_variant NM_000059.3:c.2944A>C NP_000050.2:p.Ile982Leu BRCA2 BUB1B 15 40492555 T/G 0 NM_001211.5 missense_variant NM_001211.5:c.1512T>G NP_001202.4:p.Cys504Trp NM_001211.5 missense_variant NM_001211.5:c.1512T>G NP_001202.4:p.Cys504Trp BUB1B FANCG 9 35079502 G/A 0.3 NM_004629.1 missense_variant NM_004629.1:c.20C>T NP_004620.1:p.Ser7Phe NM_004629.1 missense_variant NM_004629.1:c.20C>T NP_004620.1:p.Ser7Phe FANCG ATM 11 108160350 C/T 0.62 NM_000051.3 missense_variant NM_000051.3:c.4258C>T NP_000042.3:p.Leu1420Phe NM_000051.3 missense_variant NM_000051.3:c.4258C>T NP_000042.3:p.Leu1420Phe ATM NBN 8 90955501 A/C 0 NM_002485.4 missense_variant NM_002485.4:c.2164T>G NP_002476.2:p.Trp722Gly NM_002485.4 missense_variant NM_002485.4:c.2164T>G NP_002476.2:p.Trp722Gly NBN FANCE 6 35423541 G/T 0.36 NM_021922.2 missense_variant NM_021922.2:c.266G>T NP_068741.1:p.Arg89Leu NM_021922.2 missense_variant NM_021922.2:c.266G>T NP_068741.1:p.Arg89Leu FANCE FANCB X 14877404 T/T 3.65 NM_152633.2 missense_variant NM_152633.2:c.1004G>A NP_689846.1:p.Gly335Glu NM_152633.2 missense_variant NM_152633.2:c.1004G>A NP_689846.1:p.Gly335Glu FANCB FANCM 14 45633577 C/T 0 NM_020937.2 missense_variant NM_020937.2:c.1597C>T NP_065988.1:p.Arg533Cys NM_020937.2 missense_variant NM_020937.2:c.1597C>T NP_065988.1:p.Arg533Cys FANCM SLX4 16 3641280 C/T 0.02 NM_032444.2 missense_variant NM_032444.2:c.2359G>A NP_115820.2:p.Glu787Lys NM_032444.2 missense_variant NM_032444.2:c.2359G>A NP_115820.2:p.Glu787Lys SLX4 PMS1 2 190660537 G/A 0.06 NM_000534.4 missense_variant NM_000534.4:c.175G>A NP_000525.1:p.Glu59Lys NM_000534.4 missense_variant NM_000534.4:c.175G>A NP_000525.1:p.Glu59Lys PMS1 PTCH1 9 98212185 C/T 0.04 NM_000264.3 missense_variant NM_000264.3:c.3487G>A NP_000255.2:p.Gly1163Ser NM_000264.3 missense_variant NM_000264.3:c.3487G>A NP_000255.2:p.Gly1163Ser PTCH1 MLH1 3 37089130 A/G 0.32 NM_000249.3 missense_variant NM_000249.3:c.1852A>G NP_000240.1:p.Lys618Glu NM_000249.3 missense_variant NM_000249.3:c.1852A>G NP_000240.1:p.Lys618Glu MLH1 MLH1 3 37089131 A/C 0.32 NM_000249.3 missense_variant NM_000249.3:c.1853A>C NP_000240.1:p.Lys618Thr NM_000249.3 missense_variant NM_000249.3:c.1853A>C NP_000240.1:p.Lys618Thr MLH1 MSH6 2 48033755 A/T 0 NM_000179.2 missense_variant NM_000179.2:c.3966A>T NP_000170.1:p.Glu1322Asp NM_000179.2 missense_variant NM_000179.2:c.3966A>T NP_000170.1:p.Glu1322Asp MSH6 FANCC 9 97897704 T/C 0 NM_000136.2 missense_variant NM_000136.2:c.767A>G NP_000127.2:p.His256Arg NM_000136.2 missense_variant NM_000136.2:c.767A>G NP_000127.2:p.His256Arg FANCC BRCA1 17 41243509 T/C 0.06 NM_007300.3 missense_variant NM_007300.3:c.4039A>G NP_009231.2:p.Arg1347Gly NM_007294.3 missense_variant NM_007294.3:c.4039A>G NP_009225.1:p.Arg1347Gly BRCA1 BRCA2 13 32972884 A/G 4.49 NM_000059.3 missense_variant NM_000059.3:c.10234A>G NP_000050.2:p.Ile3412Val NM_000059.3 missense_variant NM_000059.3:c.10234A>G NP_000050.2:p.Ile3412Val BRCA2 TP53 17 7578421 G/A 0 NM_000546.5 missense_variant NM_000546.5:c.509C>T NP_000537.3:p.Thr170Met NM_000546.5 missense_variant NM_000546.5:c.509C>T NP_000537.3:p.Thr170Met TP53 FANCL 2 58453898 G/C 0.02 NM_001114636.1 missense_variant NM_001114636.1:c.238C>G NP_001108108.1:p.Leu80Val NM_018062.3 missense_variant NM_018062.3:c.238C>G NP_060532.2:p.Leu80Val FANCL FANCD2 3 10108903 C/A 0 NM_033084.3 missense_variant NM_033084.3:c.2396C>A NP_149075.2:p.Ala799Asp NM_033084.3 missense_variant NM_033084.3:c.2396C>A NP_149075.2:p.Ala799Asp FANCD2 NSD1 5 176638314 A/G 0 NM_022455.4 missense_variant NM_022455.4:c.2914A>G NP_071900.2:p.Thr972Ala NM_022455.4 missense_variant NM_022455.4:c.2914A>G NP_071900.2:p.Thr972Ala NSD1 ALK 2 30143176 G/A 0.02 NM_004304.4 missense_variant NM_004304.4:c.350C>T NP_004295.2:p.Pro117Leu NM_004304.4 missense_variant NM_004304.4:c.350C>T NP_004295.2:p.Pro117Leu ALK BUB1B 15 40476033 G/A 0 NM_001211.5 missense_variant NM_001211.5:c.700G>A NP_001202.4:p.Gly234Arg NM_001211.5 missense_variant NM_001211.5:c.700G>A NP_001202.4:p.Gly234Arg BUB1B FLCN 17 17119805 C/T 0 NM_144997.5 missense_variant NM_144997.5:c.1189G>A NP_659434.2:p.Val397Met NM_144997.5 missense_variant NM_144997.5:c.1189G>A NP_659434.2:p.Val397Met FLCN RET 10 43600559 T/C 0.02 NM_020975.4 missense_variant NM_020975.4:c.785T>C NP_066124.1:p.Val262Ala NM_020975.4 missense_variant NM_020975.4:c.785T>C NP_066124.1:p.Val262Ala RET PMS2 7 6038824 C/T 0.02 NM_000535.5 missense_variant NM_000535.5:c.620G>A NP_000526.1:p.Gly207Glu NM_000535.5 missense_variant NM_000535.5:c.620G>A NP_000526.1:p.Gly207Glu PMS2 BIVM-ERCC5,ERCC5 13 103527960 G/A 0 NM_001204425.1 missense_variant NM_001204425.1:c.4630G>A NP_001191354.1:p.Glu1544Lys NM_000123.3 missense_variant NM_000123.3:c.3268G>A NP_000114.2:p.Glu1090Lys ERCC5 MET 7 116411923 C/T 0.1 NM_001127500.1 missense_variant NM_001127500.1:c.2962C>T NP_001120972.1:p.Arg988Cys NM_000245.2 missense_variant NM_000245.2:c.2908C>T NP_000236.2:p.Arg970Cys MET BUB1B 15 40491909 A/C 0 NM_001211.5 missense_variant NM_001211.5:c.1382A>C NP_001202.4:p.Gln461Pro NM_001211.5 missense_variant NM_001211.5:c.1382A>C NP_001202.4:p.Gln461Pro BUB1B STK11 19 1223125 C/G 1.12 NM_000455.4 missense_variant NM_000455.4:c.1062C>G NP_000446.1:p.Phe354Leu NM_000455.4 missense_variant NM_000455.4:c.1062C>G NP_000446.1:p.Phe354Leu STK11 CHEK2 22 29091178 C/A 0.02 NM_001005735.1 missense_variant NM_001005735.1:c.1441G>T NP_001005735.1:p.Asp481Tyr NM_007194.3 missense_variant NM_007194.3:c.1312G>T NP_009125.1:p.Asp438Tyr CHEK2 EXT2 11 44129273 C/T 0.02 NM_000401.3 missense_variant NM_000401.3:c.110C>T NP_000392.3:p.Ser37Leu NM_207122.1 missense_variant NM_207122.1:c.11C>T NP_997005.1:p.Ser4Leu EXT2 BRCA2 13 32911295 G/A 0.04 NM_000059.3 missense_variant NM_000059.3:c.2803G>A NP_000050.2:p.Asp935Asn NM_000059.3 missense_variant NM_000059.3:c.2803G>A NP_000050.2:p.Asp935Asn BRCA2 RET 10 43595999 C/A 0.12 NM_020975.4 missense_variant NM_020975.4:c.166C>A NP_066124.1:p.Leu56Met NM_020975.4 missense_variant NM_020975.4:c.166C>A NP_066124.1:p.Leu56Met RET ATM 11 108175462 A/A 6.69 NM_000051.3 missense_variant NM_000051.3:c.5557G>A NP_000042.3:p.Asp1853Asn NM_000051.3 missense_variant NM_000051.3:c.5557G>A NP_000042.3:p.Asp1853Asn ATM CHEK2 22 29091840 T/C 0 NM_001005735.1 missense_variant NM_001005735.1:c.1246A>G NP_001005735.1:p.Lys416Glu NM_007194.3 missense_variant NM_007194.3:c.1117A>G NP_009125.1:p.Lys373Glu CHEK2 DIS3L2 2 233128100 A/G 0 NM_152383.4 missense_variant NM_152383.4:c.1609A>G NP_689596.4:p.Lys537Glu NM_152383.4 missense_variant NM_152383.4:c.1609A>G NP_689596.4:p.Lys537Glu DIS3L2 WRN 8 30999079 A/T 0.06 NM_000553.4 missense_variant NM_000553.4:c.3101A>T NP_000544.2:p.Tyr1034Phe NM_000553.4 missense_variant NM_000553.4:c.3101A>T NP_000544.2:p.Tyr1034Phe WRN FH 1 241676935 T/A 0 NM_000143.3 missense_variant NM_000143.3:c.346A>T NP_000134.2:p.Ile116Phe NM_000143.3 missense_variant NM_000143.3:c.346A>T NP_000134.2:p.Ile116Phe FH APC 5 112170736 G/C 0 NM_000038.5 missense_variant NM_000038.5:c.1832G>C NP_000029.2:p.Gly611Ala NM_000038.5 missense_variant NM_000038.5:c.1832G>C NP_000029.2:p.Gly611Ala APC BRIP1 17 59876546 G/A 0 NM_032043.2 missense_variant NM_032043.2:c.1255C>T NP_114432.2:p.Arg419Trp NM_032043.2 missense_variant NM_032043.2:c.1255C>T NP_114432.2:p.Arg419Trp BRIP1 RET 10 43620335 T/T 2.2 NM_020975.4 missense_variant NM_020975.4:c.2944C>T NP_066124.1:p.Arg982Cys NM_020975.4 missense_variant NM_020975.4:c.2944C>T NP_066124.1:p.Arg982Cys RET BRCA1 17 41246257 A/T 0 NM_007300.3 missense_variant NM_007300.3:c.1291T>A NP_009231.2:p.Leu431Ile NM_007294.3 missense_variant NM_007294.3:c.1291T>A NP_009225.1:p.Leu431Ile BRCA1 BIVM-ERCC5,ERCC5 13 103515288 G/C 0.06 NM_001204425.1 missense_variant NM_001204425.1:c.3151G>C NP_001191354.1:p.Val1051Leu NM_000123.3 missense_variant NM_000123.3:c.1789G>C NP_000114.2:p.Val597Leu ERCC5 FANCA 16 89883007 T/T 4.19 NM_000135.2 missense_variant NM_000135.2:c.17T>A NP_000126.2:p.Val6Asp NM_000135.2 missense_variant NM_000135.2:c.17T>A NP_000126.2:p.Val6Asp FANCA PTCH1 9 98215872 G/A 0 NM_000264.3 missense_variant NM_000264.3:c.3337C>T NP_000255.2:p.Arg1113Cys NM_000264.3 missense_variant NM_000264.3:c.3337C>T NP_000255.2:p.Arg1113Cys PTCH1 TSC2 16 2137888 A/G 0 NM_000548.3 missense_variant NM_000548.3:c.5014A>G NP_000539.2:p.Ile1672Val NM_000548.3 missense_variant NM_000548.3:c.5014A>G NP_000539.2:p.Ile1672Val TSC2 ERCC4 16 14020502 G/A 0 NM_005236.2 missense_variant NM_005236.2:c.473G>A NP_005227.1:p.Arg158His NM_005236.2 missense_variant NM_005236.2:c.473G>A NP_005227.1:p.Arg158His ERCC4 KIT 4 55593622 T/A 0 NM_000222.2 missense_variant NM_000222.2:c.1688T>A NP_000213.1:p.Ile563Lys NM_000222.2 missense_variant NM_000222.2:c.1688T>A NP_000213.1:p.Ile563Lys KIT SUFU 10 104357017 A/G 0.02 NM_016169.3 missense_variant NM_016169.3:c.877A>G NP_057253.2:p.Ile293Val NM_016169.3 missense_variant NM_016169.3:c.877A>G NP_057253.2:p.Ile293Val SUFU ATM 11 108123551 C/T 0.26 NM_000051.3 missense_variant NM_000051.3:c.1810C>T NP_000042.3:p.Pro604Ser NM_000051.3 missense_variant NM_000051.3:c.1810C>T NP_000042.3:p.Pro604Ser ATM APC 5 112178112 C/T 0.02 NM_000038.5 missense_variant NM_000038.5:c.6821C>T NP_000029.2:p.Ala2274Val NM_000038.5 missense_variant NM_000038.5:c.6821C>T NP_000029.2:p.Ala2274Val APC ATM,C11ORF65 11 108186817 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.6175A>G NP_000042.3:p.Thr2059Ala NM_000051.3 missense_variant NM_000051.3:c.6175A>G NP_000042.3:p.Thr2059Ala ATM FANCM 14 45653091 C/G 0 NM_020937.2 missense_variant NM_020937.2:c.4501C>G NP_065988.1:p.Gln1501Glu NM_020937.2 missense_variant NM_020937.2:c.4501C>G NP_065988.1:p.Gln1501Glu FANCM TSC1 9 135781317 G/C 0 NM_000368.4 missense_variant NM_000368.4:c.1648C>G NP_000359.1:p.Gln550Glu NM_000368.4 missense_variant NM_000368.4:c.1648C>G NP_000359.1:p.Gln550Glu TSC1 CEP57 11 95562394 G/A 0 NM_014679.4 missense_variant NM_014679.4:c.1171G>A NP_055494.2:p.Val391Ile NM_014679.4 missense_variant NM_014679.4:c.1171G>A NP_055494.2:p.Val391Ile CEP57 WRN 8 31004607 C/T 0 NM_000553.4 missense_variant NM_000553.4:c.3422C>T NP_000544.2:p.Ser1141Leu NM_000553.4 missense_variant NM_000553.4:c.3422C>T NP_000544.2:p.Ser1141Leu WRN RB1 13 48955386 G/T 0 NM_000321.2 missense_variant NM_000321.2:c.1502G>T NP_000312.2:p.Ser501Ile NM_000321.2 missense_variant NM_000321.2:c.1502G>T NP_000312.2:p.Ser501Ile RB1 BIVM-ERCC5,ERCC5 13 103527798 G/A 0.02 NM_001204425.1 missense_variant NM_001204425.1:c.4468G>A NP_001191354.1:p.Ala1490Thr NM_000123.3 missense_variant NM_000123.3:c.3106G>A NP_000114.2:p.Ala1036Thr ERCC5 CHEK2 22 29083961 C/A 0 NM_001005735.1 missense_variant NM_001005735.1:c.1685G>T NP_001005735.1:p.Arg562Leu NM_007194.3 missense_variant NM_007194.3:c.1556G>T NP_009125.1:p.Arg519Leu CHEK2 RET 10 43613908 A/T 0.02 NM_020975.4 missense_variant NM_020975.4:c.2372A>T NP_066124.1:p.Tyr791Phe NM_020975.4 missense_variant NM_020975.4:c.2372A>T NP_066124.1:p.Tyr791Phe RET ATM,C11ORF65 11 108224583 C/T 0 NM_000051.3 missense_variant NM_000051.3:c.8762C>T NP_000042.3:p.Thr2921Met NM_000051.3 missense_variant NM_000051.3:c.8762C>T NP_000042.3:p.Thr2921Met ATM EXT2 11 44193165 G/A 0.1 NM_000401.3 missense_variant NM_000401.3:c.1277G>A NP_000392.3:p.Arg426Gln NM_207122.1 missense_variant NM_207122.1:c.1178G>A NP_997005.1:p.Arg393Gln EXT2 PMS2 7 6026942 T/T 11.2 NM_000535.5 missense_variant NM_000535.5:c.1454C>A NP_000526.1:p.Thr485Lys NM_000535.5 missense_variant NM_000535.5:c.1454C>A NP_000526.1:p.Thr485Lys PMS2 BLM 15 91308570 C/T 0.1 NM_000057.2 missense_variant NM_000057.2:c.2119C>T NP_000048.1:p.Pro707Ser NM_000057.2 missense_variant NM_000057.2:c.2119C>T NP_000048.1:p.Pro707Ser BLM FANCD2 3 10115033 G/T 0.82 NM_033084.3 missense_variant NM_033084.3:c.2702G>T NP_149075.2:p.Gly901Val NM_033084.3 missense_variant NM_033084.3:c.2702G>T NP_149075.2:p.Gly901Val FANCD2 EGFR 7 55220281 G/A 0 NM_005228.3 missense_variant NM_005228.3:c.671G>A NP_005219.2:p.Arg224His NM_005228.3 missense_variant NM_005228.3:c.671G>A NP_005219.2:p.Arg224His EGFR MLH1 3 37067306 G/A 0.04 NM_000249.3 missense_variant NM_000249.3:c.1217G>A NP_000240.1:p.Ser406Asn NM_000249.3 missense_variant NM_000249.3:c.1217G>A NP_000240.1:p.Ser406Asn MLH1 PMS2 7 6026959 G/C 0.28 NM_000535.5 missense_variant NM_000535.5:c.1437C>G NP_000526.1:p.His479Gln NM_000535.5 missense_variant NM_000535.5:c.1437C>G NP_000526.1:p.His479Gln PMS2 EPCAM 2 47602434 C/T 0.08 NM_002354.2 missense_variant NM_002354.2:c.487C>T NP_002345.2:p.Arg163Trp NM_002354.2 missense_variant NM_002354.2:c.487C>T NP_002345.2:p.Arg163Trp EPCAM APC 5 112173884 C/T 0.08 NM_000038.5 missense_variant NM_000038.5:c.2593C>T NP_000029.2:p.Pro865Ser NM_000038.5 missense_variant NM_000038.5:c.2593C>T NP_000029.2:p.Pro865Ser APC RECQL4 8 145741989 G/A 0.08 NM_004260.3 missense_variant NM_004260.3:c.514C>T NP_004251.3:p.Leu172Phe NM_004260.3 missense_variant NM_004260.3:c.514C>T NP_004251.3:p.Leu172Phe RECQL4 RECQL4 8 145743144 C/T 0 NM_004260.3 missense_variant NM_004260.3:c.25G>A NP_004251.3:p.Glu9Lys NM_004260.3 missense_variant NM_004260.3:c.25G>A NP_004251.3:p.Glu9Lys RECQL4 SDHAF2 11 61205157 C/T 0.16 NM_017841.2 missense_variant NM_017841.2:c.97C>T NP_060311.1:p.Arg33Cys NM_017841.2 missense_variant NM_017841.2:c.97C>T NP_060311.1:p.Arg33Cys SDHAF2 ATM 11 108100039 G/A 0.04 NM_000051.3 missense_variant NM_000051.3:c.320G>A NP_000042.3:p.Cys107Tyr NM_000051.3 missense_variant NM_000051.3:c.320G>A NP_000042.3:p.Cys107Tyr ATM ATM,C11ORF65 11 108200946 C/T 0.04 NM_000051.3 missense_variant NM_000051.3:c.7313C>T NP_000042.3:p.Thr2438Ile NM_000051.3 missense_variant NM_000051.3:c.7313C>T NP_000042.3:p.Thr2438Ile ATM BRCA2 13 32953529 A/T 0.9 NM_000059.3 missense_variant NM_000059.3:c.8830A>T NP_000050.2:p.Ile2944Phe NM_000059.3 missense_variant NM_000059.3:c.8830A>T NP_000050.2:p.Ile2944Phe BRCA2 BUB1B 15 40457337 C/T 2.31 NM_001211.5 missense_variant NM_001211.5:c.119C>T NP_001202.4:p.Thr40Met NM_001211.5 missense_variant NM_001211.5:c.119C>T NP_001202.4:p.Thr40Met BUB1B BUB1B 15 40498503 C/C 9.28 NM_001211.5 missense_variant NM_001211.5:c.1853T>C NP_001202.4:p.Val618Ala NM_001211.5 missense_variant NM_001211.5:c.1853T>C NP_001202.4:p.Val618Ala BUB1B SLX4 16 3633105 A/T 0.76 NM_032444.2 missense_variant NM_032444.2:c.5146T>A NP_115820.2:p.Ser1716Thr NM_032444.2 missense_variant NM_032444.2:c.5146T>A NP_115820.2:p.Ser1716Thr SLX4 SLX4 16 3639039 C/T 1.38 NM_032444.2 missense_variant NM_032444.2:c.4600G>A NP_115820.2:p.Gly1534Ser NM_032444.2 missense_variant NM_032444.2:c.4600G>A NP_115820.2:p.Gly1534Ser SLX4 SLX4 16 3646180 C/T 0.76 NM_032444.2 missense_variant NM_032444.2:c.1898G>A NP_115820.2:p.Gly633Asp NM_032444.2 missense_variant NM_032444.2:c.1898G>A NP_115820.2:p.Gly633Asp SLX4 RHBDF2 17 74473032 G/A 0.2 NM_024599.5 missense_variant NM_024599.5:c.1082C>T NP_078875.4:p.Ala361Val NM_001005498.3 missense_variant NM_001005498.3:c.995C>T NP_001005498.2:p.Ala332Val RHBDF2 BRCA2 13 32929387 T/C 2.42 NM_000059.3 missense_variant NM_000059.3:c.7397T>C NP_000050.2:p.Val2466Ala NM_000059.3 missense_variant NM_000059.3:c.7397T>C NP_000050.2:p.Val2466Ala BRCA2 EGFR 7 55270315 C/T 0 NM_005228.3 missense_variant NM_005228.3:c.3268C>T NP_005219.2:p.Pro1090Ser NM_005228.3 missense_variant NM_005228.3:c.3268C>T NP_005219.2:p.Pro1090Ser EGFR WRN 8 30954294 C/T 0.06 NM_000553.4 missense_variant NM_000553.4:c.1909C>T NP_000544.2:p.Arg637Trp NM_000553.4 missense_variant NM_000553.4:c.1909C>T NP_000544.2:p.Arg637Trp WRN WT1 11 32439190 A/G 0 NM_024426.4 missense_variant NM_024426.4:c.883T>C NP_077744.3:p.Tyr295His NM_024426.4 missense_variant NM_024426.4:c.883T>C NP_077744.3:p.Tyr295His WT1 FLCN 17 17116985 G/A 0 NM_144997.5 missense_variant NM_144997.5:c.1724C>T NP_659434.2:p.Ser575Leu NM_144997.5 missense_variant NM_144997.5:c.1724C>T NP_659434.2:p.Ser575Leu FLCN FANCD2 3 10115018 C/T 0 NM_033084.3 missense_variant NM_033084.3:c.2687C>T NP_149075.2:p.Thr896Met NM_033084.3 missense_variant NM_033084.3:c.2687C>T NP_149075.2:p.Thr896Met FANCD2 ALK 2 30143057 G/A 0 NM_004304.4 missense_variant NM_004304.4:c.469C>T NP_004295.2:p.Pro157Ser NM_004304.4 missense_variant NM_004304.4:c.469C>T NP_004295.2:p.Pro157Ser ALK NF1 17 29557936 C/A 0 NM_001042492.2 missense_variant NM_001042492.2:c.3190C>A NP_001035957.1:p.Leu1064Ile NM_000267.3 missense_variant NM_000267.3:c.3190C>A NP_000258.1:p.Leu1064Ile NF1 TSC2 16 2138546 G/A 0.04 NM_000548.3 missense_variant NM_000548.3:c.5359G>A NP_000539.2:p.Gly1787Ser NM_000548.3 missense_variant NM_000548.3:c.5359G>A NP_000539.2:p.Gly1787Ser TSC2 PRF1 10 72358795 C/T 0 NM_005041.4 missense_variant NM_005041.4:c.682G>A NP_005032.2:p.Glu228Lys NM_005041.4 missense_variant NM_005041.4:c.682G>A NP_005032.2:p.Glu228Lys PRF1 ERCC4 16 14029453 A/G 0 NM_005236.2 missense_variant NM_005236.2:c.1664A>G NP_005227.1:p.His555Arg NM_005236.2 missense_variant NM_005236.2:c.1664A>G NP_005227.1:p.His555Arg ERCC4 FANCB X 14877419 A/G 0.05 NM_152633.2 missense_variant NM_152633.2:c.989T>C NP_689846.1:p.Ile330Thr NM_152633.2 missense_variant NM_152633.2:c.989T>C NP_689846.1:p.Ile330Thr FANCB ERCC3 2 128016978 G/A 0.1 NM_000122.1 missense_variant NM_000122.1:c.2111C>T NP_000113.1:p.Ser704Leu NM_000122.1 missense_variant NM_000122.1:c.2111C>T NP_000113.1:p.Ser704Leu ERCC3 ATM 11 108117799 G/A 0.04 NM_000051.3 missense_variant NM_000051.3:c.1010G>A NP_000042.3:p.Arg337His NM_000051.3 missense_variant NM_000051.3:c.1010G>A NP_000042.3:p.Arg337His ATM FANCM 14 45665603 G/A 0.08 NM_020937.2 missense_variant NM_020937.2:c.5569G>A NP_065988.1:p.Val1857Met NM_020937.2 missense_variant NM_020937.2:c.5569G>A NP_065988.1:p.Val1857Met FANCM APC 5 112178391 C/T 0 NM_000038.5 missense_variant NM_000038.5:c.7100C>T NP_000029.2:p.Thr2367Ile NM_000038.5 missense_variant NM_000038.5:c.7100C>T NP_000029.2:p.Thr2367Ile APC FANCM 14 45636210 A/G 0 NM_020937.2 missense_variant NM_020937.2:c.1846A>G NP_065988.1:p.Arg616Gly NM_020937.2 missense_variant NM_020937.2:c.1846A>G NP_065988.1:p.Arg616Gly FANCM TSC2 16 2108760 G/C 0.02 NM_000548.3 missense_variant NM_000548.3:c.861G>C NP_000539.2:p.Glu287Asp NM_000548.3 missense_variant NM_000548.3:c.861G>C NP_000539.2:p.Glu287Asp TSC2 APC 5 112174677 T/C 0.1 NM_000038.5 missense_variant NM_000038.5:c.3386T>C NP_000029.2:p.Leu1129Ser NM_000038.5 missense_variant NM_000038.5:c.3386T>C NP_000029.2:p.Leu1129Ser APC FANCM 14 45628469 A/G 0 NM_020937.2 missense_variant NM_020937.2:c.1567A>G NP_065988.1:p.Lys523Glu NM_020937.2 missense_variant NM_020937.2:c.1567A>G NP_065988.1:p.Lys523Glu FANCM BRIP1 17 59793406 A/G 0 NM_032043.2 missense_variant NM_032043.2:c.2398T>C NP_114432.2:p.Tyr800His NM_032043.2 missense_variant NM_032043.2:c.2398T>C NP_114432.2:p.Tyr800His BRIP1 PMS2 7 6045627 T/T 7.57 NM_000535.5 missense_variant NM_000535.5:c.59G>A NP_000526.1:p.Arg20Gln NM_000535.5 missense_variant NM_000535.5:c.59G>A NP_000526.1:p.Arg20Gln PMS2 TP53 17 7577091 G/A 0 NM_000546.5 missense_variant NM_000546.5:c.847C>T NP_000537.3:p.Arg283Cys NM_000546.5 missense_variant NM_000546.5:c.847C>T NP_000537.3:p.Arg283Cys TP53 ATM 11 108098576 C/G 0.42 NM_000051.3 missense_variant NM_000051.3:c.146C>G NP_000042.3:p.Ser49Cys NM_000051.3 missense_variant NM_000051.3:c.146C>G NP_000042.3:p.Ser49Cys ATM KIT 4 55593464 C/C 6.45 NM_000222.2 missense_variant NM_000222.2:c.1621A>C NP_000213.1:p.Met541Leu NM_000222.2 missense_variant NM_000222.2:c.1621A>C NP_000213.1:p.Met541Leu KIT DIS3L2 2 233199103 C/T 0 NM_152383.4 missense_variant NM_152383.4:c.2183C>T NP_689596.4:p.Ala728Val NM_152383.4 missense_variant NM_152383.4:c.2183C>T NP_689596.4:p.Ala728Val DIS3L2 FH 1 241676923 T/C 0 NM_000143.3 missense_variant NM_000143.3:c.358A>G NP_000134.2:p.Ile120Val NM_000143.3 missense_variant NM_000143.3:c.358A>G NP_000134.2:p.Ile120Val FH MLH1 3 37067410 G/A 0 NM_000249.3 missense_variant NM_000249.3:c.1321G>A NP_000240.1:p.Ala441Thr NM_000249.3 missense_variant NM_000249.3:c.1321G>A NP_000240.1:p.Ala441Thr MLH1 BRCA2 13 32953604 G/A 0.06 NM_000059.3 missense_variant NM_000059.3:c.8905G>A NP_000050.2:p.Val2969Met NM_000059.3 missense_variant NM_000059.3:c.8905G>A NP_000050.2:p.Val2969Met BRCA2 CHEK2 22 29121058 C/T 0 NM_001005735.1 missense_variant NM_001005735.1:c.628G>A NP_001005735.1:p.Gly210Arg NM_007194.3 missense_variant NM_007194.3:c.499G>A NP_009125.1:p.Gly167Arg CHEK2 FANCB X 14863088 C/T 0 NM_152633.2 missense_variant NM_152633.2:c.1817G>A NP_689846.1:p.Ser606Asn NM_152633.2 missense_variant NM_152633.2:c.1817G>A NP_689846.1:p.Ser606Asn FANCB FANCI 15 89825056 A/G 0.08 NM_001113378.1 missense_variant NM_001113378.1:c.1573A>G NP_001106849.1:p.Met525Val NM_001113378.1 missense_variant NM_001113378.1:c.1573A>G NP_001106849.1:p.Met525Val FANCI SLX4 16 3658448 G/C 0 NM_032444.2 missense_variant NM_032444.2:c.518C>G NP_115820.2:p.Ser173Cys NM_032444.2 missense_variant NM_032444.2:c.518C>G NP_115820.2:p.Ser173Cys SLX4 FANCA 16 89816304 C/A 0 NM_000135.2 missense_variant NM_000135.2:c.3073G>T NP_000126.2:p.Val1025Leu NM_000135.2 missense_variant NM_000135.2:c.3073G>T NP_000126.2:p.Val1025Leu FANCA FANCA 16 89877377 G/A 0.02 NM_000135.2 missense_variant NM_000135.2:c.386C>T NP_000126.2:p.Ala129Val NM_000135.2 missense_variant NM_000135.2:c.386C>T NP_000126.2:p.Ala129Val FANCA DIS3L2 2 233164777 G/A 0 NM_152383.4 missense_variant NM_152383.4:c.1687G>A NP_689596.4:p.Glu563Lys NM_152383.4 missense_variant NM_152383.4:c.1687G>A NP_689596.4:p.Glu563Lys DIS3L2 MET 7 116340270 G/A 0 NM_001127500.1 missense_variant NM_001127500.1:c.1132G>A NP_001120972.1:p.Val378Ile NM_000245.2 missense_variant NM_000245.2:c.1132G>A NP_000236.2:p.Val378Ile MET TSC2 16 2127648 G/A 0.02 NM_000548.3 missense_variant NM_000548.3:c.2887G>A NP_000539.2:p.Val963Met NM_000548.3 missense_variant NM_000548.3:c.2887G>A NP_000539.2:p.Val963Met TSC2 BRCA2 13 32907407 A/G 0.06 NM_000059.3 missense_variant NM_000059.3:c.1792A>G NP_000050.2:p.Thr598Ala NM_000059.3 missense_variant NM_000059.3:c.1792A>G NP_000050.2:p.Thr598Ala BRCA2 APC 5 112174967 A/G 0 NM_000038.5 missense_variant NM_000038.5:c.3676A>G NP_000029.2:p.Lys1226Glu NM_000038.5 missense_variant NM_000038.5:c.3676A>G NP_000029.2:p.Lys1226Glu APC TSC1 9 135778098 T/C 0.02 NM_000368.4 missense_variant NM_000368.4:c.2285A>G NP_000359.1:p.Asn762Ser NM_000368.4 missense_variant NM_000368.4:c.2285A>G NP_000359.1:p.Asn762Ser TSC1 PALB2 16 23635348 A/C 0.08 NM_024675.3 missense_variant NM_024675.3:c.2816T>G NP_078951.2:p.Leu939Trp NM_024675.3 missense_variant NM_024675.3:c.2816T>G NP_078951.2:p.Leu939Trp PALB2 PMS2 7 6026607 T/A 0.28 NM_000535.5 missense_variant NM_000535.5:c.1789A>T NP_000526.1:p.Thr597Ser NM_000535.5 missense_variant NM_000535.5:c.1789A>T NP_000526.1:p.Thr597Ser PMS2 NSD1 5 176721115 A/G 0 NM_022455.4 missense_variant NM_022455.4:c.6746A>G NP_071900.2:p.Lys2249Arg NM_022455.4 missense_variant NM_022455.4:c.6746A>G NP_071900.2:p.Lys2249Arg NSD1 EZH2 7 148525904 G/G 7.99 NM_004456.4 missense_variant NM_004456.4:c.553G>C NP_004447.2:p.Asp185His NM_004456.4 missense_variant NM_004456.4:c.553G>C NP_004447.2:p.Asp185His EZH2 NSD1 5 176722108 C/T 0 NM_022455.4 missense_variant NM_022455.4:c.7739C>T NP_071900.2:p.Ala2580Val NM_022455.4 missense_variant NM_022455.4:c.7739C>T NP_071900.2:p.Ala2580Val NSD1 HNF1A 12 121437410 G/A 0.06 NM_000545.5 missense_variant NM_000545.5:c.1748G>A NP_000536.5:p.Arg583Gln NM_000545.5 missense_variant NM_000545.5:c.1748G>A NP_000536.5:p.Arg583Gln HNF1A ERCC4 16 14029033 A/A 2.85 NM_005236.2 missense_variant NM_005236.2:c.1244G>A NP_005227.1:p.Arg415Gln NM_005236.2 missense_variant NM_005236.2:c.1244G>A NP_005227.1:p.Arg415Gln ERCC4 ERCC3 2 128046322 G/C 0 NM_000122.1 missense_variant NM_000122.1:c.941C>G NP_000113.1:p.Ala314Gly NM_000122.1 missense_variant NM_000122.1:c.941C>G NP_000113.1:p.Ala314Gly ERCC3 SLX4 16 3640264 G/C 0 NM_032444.2 missense_variant NM_032444.2:c.3375C>G NP_115820.2:p.Asp1125Glu NM_032444.2 missense_variant NM_032444.2:c.3375C>G NP_115820.2:p.Asp1125Glu SLX4 FANCM 14 45636348 A/G 0 NM_020937.2 missense_variant NM_020937.2:c.1984A>G NP_065988.1:p.Ile662Val NM_020937.2 missense_variant NM_020937.2:c.1984A>G NP_065988.1:p.Ile662Val FANCM SLX4 16 3656645 A/G 0.04 NM_032444.2 missense_variant NM_032444.2:c.590T>C NP_115820.2:p.Val197Ala NM_032444.2 missense_variant NM_032444.2:c.590T>C NP_115820.2:p.Val197Ala SLX4 BRCA1 17 41244246 C/T 0 NM_007300.3 missense_variant NM_007300.3:c.3302G>A NP_009231.2:p.Ser1101Asn NM_007294.3 missense_variant NM_007294.3:c.3302G>A NP_009225.1:p.Ser1101Asn BRCA1 SMAD4 18 48586248 A/G 0 NM_005359.5 missense_variant NM_005359.5:c.917A>G NP_005350.1:p.Asn306Ser NM_005359.5 missense_variant NM_005359.5:c.917A>G NP_005350.1:p.Asn306Ser SMAD4 CHEK2 22 29092917 G/A 0 NM_001005735.1 missense_variant NM_001005735.1:c.1196C>T NP_001005735.1:p.Ser399Leu NM_007194.3 missense_variant NM_007194.3:c.1067C>T NP_009125.1:p.Ser356Leu CHEK2 FANCI 15 89807795 A/G 0 NM_001113378.1 missense_variant NM_001113378.1:c.712A>G NP_001106849.1:p.Ser238Gly NM_001113378.1 missense_variant NM_001113378.1:c.712A>G NP_001106849.1:p.Ser238Gly FANCI GATA2 3 128199903 C/T 0 NM_032638.4 missense_variant NM_032638.4:c.1402G>A NP_116027.2:p.Gly468Ser NM_032638.4 missense_variant NM_032638.4:c.1402G>A NP_116027.2:p.Gly468Ser GATA2 NSD1 5 176637660 A/G 0 NM_022455.4 missense_variant NM_022455.4:c.2260A>G NP_071900.2:p.Lys754Glu NM_022455.4 missense_variant NM_022455.4:c.2260A>G NP_071900.2:p.Lys754Glu NSD1 CDH1 16 68845655 G/A 0 NM_004360.3 missense_variant NM_004360.3:c.901G>A NP_004351.1:p.Ala301Thr NM_004360.3 missense_variant NM_004360.3:c.901G>A NP_004351.1:p.Ala301Thr CDH1 FANCA 16 89842153 C/G 0 NM_000135.2 missense_variant NM_000135.2:c.1897G>C NP_000126.2:p.Glu633Gln NM_000135.2 missense_variant NM_000135.2:c.1897G>C NP_000126.2:p.Glu633Gln FANCA SLX4 16 3634861 G/A 0.12 NM_032444.2 missense_variant NM_032444.2:c.4648C>T NP_115820.2:p.Arg1550Trp NM_032444.2 missense_variant NM_032444.2:c.4648C>T NP_115820.2:p.Arg1550Trp SLX4 FANCA 16 89831370 G/C 0 NM_000135.2 missense_variant NM_000135.2:c.2706C>G NP_000126.2:p.Asp902Glu NM_000135.2 missense_variant NM_000135.2:c.2706C>G NP_000126.2:p.Asp902Glu FANCA DIS3L2 2 233199099 A/G 0 NM_152383.4 missense_variant NM_152383.4:c.2179A>G NP_689596.4:p.Met727Val NM_152383.4 missense_variant NM_152383.4:c.2179A>G NP_689596.4:p.Met727Val DIS3L2 TSC2 16 2134671 G/C 0 NM_000548.3 missense_variant NM_000548.3:c.4448G>C NP_000539.2:p.Arg1483Thr NM_000548.3 missense_variant NM_000548.3:c.4448G>C NP_000539.2:p.Arg1483Thr TSC2 ALK 2 29436908 C/A 0 NM_004304.4 missense_variant NM_004304.4:c.3685G>T NP_004295.2:p.Val1229Leu NM_004304.4 missense_variant NM_004304.4:c.3685G>T NP_004295.2:p.Val1229Leu ALK NF1 17 29557869 G/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.3123G>T NP_001035957.1:p.Met1041Ile NM_000267.3 missense_variant NM_000267.3:c.3123G>T NP_000258.1:p.Met1041Ile NF1 XPC 3 14220026 C/T 0 NM_004628.4 missense_variant NM_004628.4:c.43G>A NP_004619.3:p.Glu15Lys NM_004628.4 missense_variant NM_004628.4:c.43G>A NP_004619.3:p.Glu15Lys XPC RECQL4 8 145743117 A/G 0 NM_004260.3 missense_variant NM_004260.3:c.52T>C NP_004251.3:p.Phe18Leu NM_004260.3 missense_variant NM_004260.3:c.52T>C NP_004251.3:p.Phe18Leu RECQL4 BRCA2 13 32912073 G/A 0 NM_000059.3 missense_variant NM_000059.3:c.3581G>A NP_000050.2:p.Gly1194Asp NM_000059.3 missense_variant NM_000059.3:c.3581G>A NP_000050.2:p.Gly1194Asp BRCA2 DIS3L2 2 233001353 C/T 0.08 NM_152383.4 missense_variant NM_152383.4:c.874C>T NP_689596.4:p.Arg292Trp NM_152383.4 missense_variant NM_152383.4:c.874C>T NP_689596.4:p.Arg292Trp DIS3L2 FANCF 11 22646242 C/T 0 NM_022725.3 missense_variant NM_022725.3:c.1115G>A NP_073562.1:p.Ser372Asn NM_022725.3 missense_variant NM_022725.3:c.1115G>A NP_073562.1:p.Ser372Asn FANCF NF1 17 29587402 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.4446A>G NP_001035957.1:p.Ile1482Met NM_000267.3 missense_variant NM_000267.3:c.4383A>G NP_000258.1:p.Ile1461Met NF1 NF1 17 29665117 C/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.6779C>T NP_001035957.1:p.Ser2260Phe NM_000267.3 missense_variant NM_000267.3:c.6716C>T NP_000258.1:p.Ser2239Phe NF1 STK11 19 1219388 G/A 0 NM_000455.4 missense_variant NM_000455.4:c.440G>A NP_000446.1:p.Arg147His NM_000455.4 missense_variant NM_000455.4:c.440G>A NP_000446.1:p.Arg147His STK11 RAD51C 17 56801452 G/A 0 NM_058216.2 missense_variant NM_058216.2:c.956G>A NP_478123.1:p.Arg319Gln NM_058216.2 missense_variant NM_058216.2:c.956G>A NP_478123.1:p.Arg319Gln RAD51C FANCF 11 22647208 C/G 0 NM_022725.3 missense_variant NM_022725.3:c.149G>C NP_073562.1:p.Arg50Pro NM_022725.3 missense_variant NM_022725.3:c.149G>C NP_073562.1:p.Arg50Pro FANCF STK11 19 1221318 C/A 0 NM_000455.4 missense_variant NM_000455.4:c.841C>A NP_000446.1:p.Pro281Thr NM_000455.4 missense_variant NM_000455.4:c.841C>A NP_000446.1:p.Pro281Thr STK11 CDH1 16 68855966 G/A 0.12 NM_004360.3 missense_variant NM_004360.3:c.1774G>A NP_004351.1:p.Ala592Thr NM_004360.3 missense_variant NM_004360.3:c.1774G>A NP_004351.1:p.Ala592Thr CDH1 ERCC4 16 14041930 C/T 0 NM_005236.2 missense_variant NM_005236.2:c.2477C>T NP_005227.1:p.Ala826Val NM_005236.2 missense_variant NM_005236.2:c.2477C>T NP_005227.1:p.Ala826Val ERCC4 FANCA 16 89845377 G/C 0 NM_000135.2 missense_variant NM_000135.2:c.1750C>G NP_000126.2:p.Leu584Val NM_000135.2 missense_variant NM_000135.2:c.1750C>G NP_000126.2:p.Leu584Val FANCA ERCC2 19 45871973 T/C 0 NM_000400.3 missense_variant NM_000400.3:c.275A>G NP_000391.1:p.Asn92Ser NM_000400.3 missense_variant NM_000400.3:c.275A>G NP_000391.1:p.Asn92Ser ERCC2 ATM 11 108164131 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.4703A>G NP_000042.3:p.His1568Arg NM_000051.3 missense_variant NM_000051.3:c.4703A>G NP_000042.3:p.His1568Arg ATM PALB2 16 23614913 A/T 0 NM_024675.3 missense_variant NM_024675.3:c.3428T>A NP_078951.2:p.Leu1143His NM_024675.3 missense_variant NM_024675.3:c.3428T>A NP_078951.2:p.Leu1143His PALB2 SDHC 1 161326475 C/T 0 NM_003001.3 missense_variant NM_003001.3:c.250C>T NP_002992.1:p.Leu84Phe NM_003001.3 missense_variant NM_003001.3:c.250C>T NP_002992.1:p.Leu84Phe SDHC SDHC 1 161326566 A/T 0 NM_003001.3 missense_variant NM_003001.3:c.341A>T NP_002992.1:p.His114Leu NM_003001.3 missense_variant NM_003001.3:c.341A>T NP_002992.1:p.His114Leu SDHC SBDS 7 66453476 A/T 1.7 NM_016038.2 missense_variant NM_016038.2:c.635T>A NP_057122.2:p.Ile212Asn NM_016038.2 missense_variant NM_016038.2:c.635T>A NP_057122.2:p.Ile212Asn SBDS PMS2 7 6045600 C/G 0.02 NM_000535.5 missense_variant NM_000535.5:c.86G>C NP_000526.1:p.Gly29Ala NM_000535.5 missense_variant NM_000535.5:c.86G>C NP_000526.1:p.Gly29Ala PMS2 RECQL4 8 145743155 C/A 0 NM_004260.3 missense_variant NM_004260.3:c.14G>T NP_004251.3:p.Arg5Leu NM_004260.3 missense_variant NM_004260.3:c.14G>T NP_004251.3:p.Arg5Leu RECQL4 FANCA 16 89836978 G/A 0.38 NM_000135.2 missense_variant NM_000135.2:c.2216C>T NP_000126.2:p.Pro739Leu NM_000135.2 missense_variant NM_000135.2:c.2216C>T NP_000126.2:p.Pro739Leu FANCA ALK 2 29551270 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.1360G>A NP_004295.2:p.Ala454Thr NM_004304.4 missense_variant NM_004304.4:c.1360G>A NP_004295.2:p.Ala454Thr ALK ERCC3 2 128015188 T/C 0 NM_000122.1 missense_variant NM_000122.1:c.2333A>G NP_000113.1:p.Lys778Arg NM_000122.1 missense_variant NM_000122.1:c.2333A>G NP_000113.1:p.Lys778Arg ERCC3 ERCC4 16 14029446 A/G 0 NM_005236.2 missense_variant NM_005236.2:c.1657A>G NP_005227.1:p.Ile553Val NM_005236.2 missense_variant NM_005236.2:c.1657A>G NP_005227.1:p.Ile553Val ERCC4 FLCN 17 17122436 C/T 0 NM_144997.5 missense_variant NM_144997.5:c.959G>A NP_659434.2:p.Arg320Gln NM_144997.5 missense_variant NM_144997.5:c.959G>A NP_659434.2:p.Arg320Gln FLCN FANCC 9 97912307 T/A 0.26 NM_000136.2 missense_variant NM_000136.2:c.584A>T NP_000127.2:p.Asp195Val NM_000136.2 missense_variant NM_000136.2:c.584A>T NP_000127.2:p.Asp195Val FANCC SDHB 1 17359572 C/T 0.02 NM_003000.2 missense_variant NM_003000.2:c.269G>A NP_002991.2:p.Arg90Gln NM_003000.2 missense_variant NM_003000.2:c.269G>A NP_002991.2:p.Arg90Gln SDHB MSH6 2 48028072 A/C 0.02 NM_000179.2 missense_variant NM_000179.2:c.2950A>C NP_000170.1:p.Asn984His NM_000179.2 missense_variant NM_000179.2:c.2950A>C NP_000170.1:p.Asn984His MSH6 FANCM 14 45633647 A/G 0.04 NM_020937.2 missense_variant NM_020937.2:c.1667A>G NP_065988.1:p.Asp556Gly NM_020937.2 missense_variant NM_020937.2:c.1667A>G NP_065988.1:p.Asp556Gly FANCM FANCF 11 22647116 C/A 0.04 NM_022725.3 missense_variant NM_022725.3:c.241G>T NP_073562.1:p.Ala81Ser NM_022725.3 missense_variant NM_022725.3:c.241G>T NP_073562.1:p.Ala81Ser FANCF BLM 15 91304428 C/A 0 NM_000057.2 missense_variant NM_000057.2:c.1825C>A NP_000048.1:p.Pro609Thr NM_000057.2 missense_variant NM_000057.2:c.1825C>A NP_000048.1:p.Pro609Thr BLM PMS2 7 6045634 T/C 0.32 NM_000535.5 missense_variant NM_000535.5:c.52A>G NP_000526.1:p.Ile18Val NM_000535.5 missense_variant NM_000535.5:c.52A>G NP_000526.1:p.Ile18Val PMS2 FLCN 17 17119729 G/A 0.02 NM_144997.5 missense_variant NM_144997.5:c.1265C>T NP_659434.2:p.Pro422Leu NM_144997.5 missense_variant NM_144997.5:c.1265C>T NP_659434.2:p.Pro422Leu FLCN TSC1 9 135797337 C/T 0 NM_000368.4 missense_variant NM_000368.4:c.532G>A NP_000359.1:p.Val178Ile NM_000368.4 missense_variant NM_000368.4:c.532G>A NP_000359.1:p.Val178Ile TSC1 FANCC 9 97897648 A/G 0 NM_000136.2 missense_variant NM_000136.2:c.823T>C NP_000127.2:p.Phe275Leu NM_000136.2 missense_variant NM_000136.2:c.823T>C NP_000127.2:p.Phe275Leu FANCC ATM 11 108137925 C/T 0.02 NM_000051.3 missense_variant NM_000051.3:c.2494C>T NP_000042.3:p.Arg832Cys NM_000051.3 missense_variant NM_000051.3:c.2494C>T NP_000042.3:p.Arg832Cys ATM ATM,C11ORF65 11 108181014 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.5890A>G NP_000042.3:p.Lys1964Glu NM_000051.3 missense_variant NM_000051.3:c.5890A>G NP_000042.3:p.Lys1964Glu ATM BRCA2 13 32914155 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.5663A>G NP_000050.2:p.Lys1888Arg NM_000059.3 missense_variant NM_000059.3:c.5663A>G NP_000050.2:p.Lys1888Arg BRCA2 FANCA 16 89813078 G/C 0.04 NM_000135.2 missense_variant NM_000135.2:c.3427C>G NP_000126.2:p.Leu1143Val NM_000135.2 missense_variant NM_000135.2:c.3427C>G NP_000126.2:p.Leu1143Val FANCA FANCF 11 22646555 G/C 0 NM_022725.3 missense_variant NM_022725.3:c.802C>G NP_073562.1:p.Pro268Ala NM_022725.3 missense_variant NM_022725.3:c.802C>G NP_073562.1:p.Pro268Ala FANCF MSH2 2 47637365 G/C 0 NM_000251.2 missense_variant NM_000251.2:c.499G>C NP_000242.1:p.Asp167His NM_000251.2 missense_variant NM_000251.2:c.499G>C NP_000242.1:p.Asp167His MSH2 EPCAM 2 47596694 C/A 1.28 NM_002354.2 missense_variant NM_002354.2:c.50C>A NP_002345.2:p.Thr17Lys NM_002354.2 missense_variant NM_002354.2:c.50C>A NP_002345.2:p.Thr17Lys EPCAM EXT2 11 44129546 G/A 0.04 NM_000401.3 missense_variant NM_000401.3:c.383G>A NP_000392.3:p.Arg128His NM_207122.1 missense_variant NM_207122.1:c.284G>A NP_997005.1:p.Arg95His EXT2 SLX4 16 3650990 G/T 1.08 NM_032444.2 missense_variant NM_032444.2:c.1153C>A NP_115820.2:p.Pro385Thr NM_032444.2 missense_variant NM_032444.2:c.1153C>A NP_115820.2:p.Pro385Thr SLX4 SLX4 16 3640715 G/A 0.82 NM_032444.2 missense_variant NM_032444.2:c.2924C>T NP_115820.2:p.Pro975Leu NM_032444.2 missense_variant NM_032444.2:c.2924C>T NP_115820.2:p.Pro975Leu SLX4 SLX4 16 3640815 C/G 1.8 NM_032444.2 missense_variant NM_032444.2:c.2824G>C NP_115820.2:p.Glu942Gln NM_032444.2 missense_variant NM_032444.2:c.2824G>C NP_115820.2:p.Glu942Gln SLX4 ATM 11 108119823 T/C 0.08 NM_000051.3 missense_variant NM_000051.3:c.1229T>C NP_000042.3:p.Val410Ala NM_000051.3 missense_variant NM_000051.3:c.1229T>C NP_000042.3:p.Val410Ala ATM XPC 3 14200206 G/A 0.02 NM_004628.4 missense_variant NM_004628.4:c.1177C>T NP_004619.3:p.Arg393Trp NM_004628.4 missense_variant NM_004628.4:c.1177C>T NP_004619.3:p.Arg393Trp XPC MET 7 116403252 A/T 0 NM_001127500.1 missense_variant NM_001127500.1:c.2567A>T NP_001120972.1:p.Asn856Ile NM_000245.2 missense_variant NM_000245.2:c.2513A>T NP_000236.2:p.Asn838Ile MET FANCM 14 45654531 C/T 0.04 NM_020937.2 missense_variant NM_020937.2:c.4627C>T NP_065988.1:p.Leu1543Phe NM_020937.2 missense_variant NM_020937.2:c.4627C>T NP_065988.1:p.Leu1543Phe FANCM AIP 11 67257823 C/A 15.46 NM_003977.2 missense_variant NM_003977.2:c.682C>A NP_003968.2:p.Gln228Lys NM_003977.2 missense_variant NM_003977.2:c.682C>A NP_003968.2:p.Gln228Lys AIP KIT 4 55561810 C/G 0 NM_000222.2 missense_variant NM_000222.2:c.200C>G NP_000213.1:p.Thr67Ser NM_000222.2 missense_variant NM_000222.2:c.200C>G NP_000213.1:p.Thr67Ser KIT BRCA2 13 32972435 A/C 0 NM_000059.3 missense_variant NM_000059.3:c.9785A>C NP_000050.2:p.Gln3262Pro NM_000059.3 missense_variant NM_000059.3:c.9785A>C NP_000050.2:p.Gln3262Pro BRCA2 FANCL 2 58456962 C/G 0.1 NM_001114636.1 missense_variant NM_001114636.1:c.203G>C NP_001108108.1:p.Arg68Pro NM_018062.3 missense_variant NM_018062.3:c.203G>C NP_060532.2:p.Arg68Pro FANCL XPA 9 100459453 G/A 0 NM_000380.3 missense_variant NM_000380.3:c.122C>T NP_000371.1:p.Ala41Val NM_000380.3 missense_variant NM_000380.3:c.122C>T NP_000371.1:p.Ala41Val XPA TSC2 16 2133726 C/T 0.92 NM_000548.3 missense_variant NM_000548.3:c.3914C>T NP_000539.2:p.Pro1305Leu NM_000548.3 missense_variant NM_000548.3:c.3914C>T NP_000539.2:p.Pro1305Leu TSC2 ALK 2 29445462 T/C 0 NM_004304.4 missense_variant NM_004304.4:c.3371A>G NP_004295.2:p.His1124Arg NM_004304.4 missense_variant NM_004304.4:c.3371A>G NP_004295.2:p.His1124Arg ALK RET 10 43620336 G/A 0 NM_020975.4 missense_variant NM_020975.4:c.2945G>A NP_066124.1:p.Arg982His NM_020975.4 missense_variant NM_020975.4:c.2945G>A NP_066124.1:p.Arg982His RET BLM 15 91328234 C/G 0 NM_000057.2 missense_variant NM_000057.2:c.2746C>G NP_000048.1:p.Leu916Val NM_000057.2 missense_variant NM_000057.2:c.2746C>G NP_000048.1:p.Leu916Val BLM FANCA 16 89882965 C/T 0 NM_000135.2 missense_variant NM_000135.2:c.59G>A NP_000126.2:p.Arg20Lys NM_000135.2 missense_variant NM_000135.2:c.59G>A NP_000126.2:p.Arg20Lys FANCA FANCB X 14876041 A/T 0 NM_152633.2 missense_variant NM_152633.2:c.1140T>A NP_689846.1:p.Phe380Leu NM_152633.2 missense_variant NM_152633.2:c.1140T>A NP_689846.1:p.Phe380Leu FANCB RET 10 43622095 A/G 0 NM_020975.4 missense_variant NM_020975.4:c.3112A>G NP_066124.1:p.Thr1038Ala NM_020975.4 missense_variant NM_020975.4:c.3112A>G NP_066124.1:p.Thr1038Ala RET TSC2 16 2121610 G/A 0.04 NM_000548.3 missense_variant NM_000548.3:c.1939G>A NP_000539.2:p.Asp647Asn NM_000548.3 missense_variant NM_000548.3:c.1939G>A NP_000539.2:p.Asp647Asn TSC2 PMS1 2 190660640 G/A 0 NM_000534.4 missense_variant NM_000534.4:c.278G>A NP_000525.1:p.Arg93His NM_000534.4 missense_variant NM_000534.4:c.278G>A NP_000525.1:p.Arg93His PMS1 KIT 4 55598073 T/C 0 NM_000222.2 missense_variant NM_000222.2:c.2270T>C NP_000213.1:p.Met757Thr NM_000222.2 missense_variant NM_000222.2:c.2270T>C NP_000213.1:p.Met757Thr KIT CDC73 1 193172941 G/A 0 NM_024529.4 missense_variant NM_024529.4:c.989G>A NP_078805.3:p.Arg330Gln NM_024529.4 missense_variant NM_024529.4:c.989G>A NP_078805.3:p.Arg330Gln CDC73 DIS3L2 2 232995393 A/C 0 NM_152383.4 missense_variant NM_152383.4:c.666A>C NP_689596.4:p.Arg222Ser NM_152383.4 missense_variant NM_152383.4:c.666A>C NP_689596.4:p.Arg222Ser DIS3L2 BRCA2 13 32911541 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.3049A>G NP_000050.2:p.Ile1017Val NM_000059.3 missense_variant NM_000059.3:c.3049A>G NP_000050.2:p.Ile1017Val BRCA2 SLX4 16 3639049 C/T 0 NM_032444.2 missense_variant NM_032444.2:c.4590G>A NP_115820.2:p.Met1530Ile NM_032444.2 missense_variant NM_032444.2:c.4590G>A NP_115820.2:p.Met1530Ile SLX4 NF1 17 29679412 C/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.7595C>T NP_001035957.1:p.Ala2532Val NM_000267.3 missense_variant NM_000267.3:c.7532C>T NP_000258.1:p.Ala2511Val NF1 NBN 8 90993640 C/T 0.08 NM_002485.4 missense_variant NM_002485.4:c.283G>A NP_002476.2:p.Asp95Asn NM_002485.4 missense_variant NM_002485.4:c.283G>A NP_002476.2:p.Asp95Asn NBN NSD1 5 176636921 A/C 0 NM_022455.4 missense_variant NM_022455.4:c.1521A>C NP_071900.2:p.Lys507Asn NM_022455.4 missense_variant NM_022455.4:c.1521A>C NP_071900.2:p.Lys507Asn NSD1 NSD1 5 176638944 A/T 0 NM_022455.4 missense_variant NM_022455.4:c.3544A>T NP_071900.2:p.Asn1182Tyr NM_022455.4 missense_variant NM_022455.4:c.3544A>T NP_071900.2:p.Asn1182Tyr NSD1 CHEK2 22 29121265 C/T 0 NM_001005735.1 missense_variant NM_001005735.1:c.539G>A NP_001005735.1:p.Arg180Gln NM_007194.3 missense_variant NM_007194.3:c.410G>A NP_009125.1:p.Arg137Gln CHEK2 CHEK2 22 29130534 G/A 0 NM_001005735.1 missense_variant NM_001005735.1:c.176C>T NP_001005735.1:p.Thr59Ile NM_007194.3 missense_variant NM_007194.3:c.176C>T NP_009125.1:p.Thr59Ile CHEK2 MSH6 2 48030603 C/T 0 NM_000179.2 missense_variant NM_000179.2:c.3217C>T NP_000170.1:p.Pro1073Ser NM_000179.2 missense_variant NM_000179.2:c.3217C>T NP_000170.1:p.Pro1073Ser MSH6 MSH2 2 47702178 A/G 0 NM_000251.2 missense_variant NM_000251.2:c.1774A>G NP_000242.1:p.Met592Val NM_000251.2 missense_variant NM_000251.2:c.1774A>G NP_000242.1:p.Met592Val MSH2 FANCF 11 22646421 T/A 0 NM_022725.3 missense_variant NM_022725.3:c.936A>T NP_073562.1:p.Gln312His NM_022725.3 missense_variant NM_022725.3:c.936A>T NP_073562.1:p.Gln312His FANCF BRCA2 13 32930598 T/C 1.6 NM_000059.3 missense_variant NM_000059.3:c.7469T>C NP_000050.2:p.Ile2490Thr NM_000059.3 missense_variant NM_000059.3:c.7469T>C NP_000050.2:p.Ile2490Thr BRCA2 HNF1A 12 121437391 C/G 0.04 NM_000545.5 missense_variant NM_000545.5:c.1729C>G NP_000536.5:p.His577Asp NM_000545.5 missense_variant NM_000545.5:c.1729C>G NP_000536.5:p.His577Asp HNF1A SLX4 16 3658545 C/A 0.04 NM_032444.2 missense_variant NM_032444.2:c.421G>T NP_115820.2:p.Gly141Trp NM_032444.2 missense_variant NM_032444.2:c.421G>T NP_115820.2:p.Gly141Trp SLX4 CDH1 16 68863659 C/T 0 NM_004360.3 missense_variant NM_004360.3:c.2398C>T NP_004351.1:p.Arg800Cys NM_004360.3 missense_variant NM_004360.3:c.2398C>T NP_004351.1:p.Arg800Cys CDH1 FANCM 14 45623231 T/G 0 NM_020937.2 missense_variant NM_020937.2:c.1159T>G NP_065988.1:p.Cys387Gly NM_020937.2 missense_variant NM_020937.2:c.1159T>G NP_065988.1:p.Cys387Gly FANCM PALB2 16 23634293 T/T 0.86 NM_024675.3 missense_variant NM_024675.3:c.2993G>A NP_078951.2:p.Gly998Glu NM_024675.3 missense_variant NM_024675.3:c.2993G>A NP_078951.2:p.Gly998Glu PALB2 PALB2 16 23641461 G/G 1.44 NM_024675.3 missense_variant NM_024675.3:c.2014G>C NP_078951.2:p.Glu672Gln NM_024675.3 missense_variant NM_024675.3:c.2014G>C NP_078951.2:p.Glu672Gln PALB2 FANCM 14 45665431 A/T 0 NM_020937.2 missense_variant NM_020937.2:c.5397A>T NP_065988.1:p.Arg1799Ser NM_020937.2 missense_variant NM_020937.2:c.5397A>T NP_065988.1:p.Arg1799Ser FANCM RHBDF2 17 74474974 C/G 0 NM_024599.5 missense_variant NM_024599.5:c.673G>C NP_078875.4:p.Val225Leu NM_001005498.3 missense_variant NM_001005498.3:c.586G>C NP_001005498.2:p.Val196Leu RHBDF2 NBN 8 90990521 T/C 0.04 NM_002485.4 missense_variant NM_002485.4:c.511A>G NP_002476.2:p.Ile171Val NM_002485.4 missense_variant NM_002485.4:c.511A>G NP_002476.2:p.Ile171Val NBN DIS3L2 2 233127938 C/G 0.06 NM_152383.4 missense_variant NM_152383.4:c.1447C>G NP_689596.4:p.Arg483Gly NM_152383.4 missense_variant NM_152383.4:c.1447C>G NP_689596.4:p.Arg483Gly DIS3L2 FLCN 17 17124884 C/T 0 NM_144997.5 missense_variant NM_144997.5:c.838G>A NP_659434.2:p.Glu280Lys NM_144997.5 missense_variant NM_144997.5:c.838G>A NP_659434.2:p.Glu280Lys FLCN ALK 2 29455188 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.2614G>A NP_004295.2:p.Gly872Ser NM_004304.4 missense_variant NM_004304.4:c.2614G>A NP_004295.2:p.Gly872Ser ALK ERCC4 16 14029569 T/G 0 NM_005236.2 missense_variant NM_005236.2:c.1780T>G NP_005227.1:p.Tyr594Asp NM_005236.2 missense_variant NM_005236.2:c.1780T>G NP_005227.1:p.Tyr594Asp ERCC4 NSD1 5 176636958 G/A 0.02 NM_022455.4 missense_variant NM_022455.4:c.1558G>A NP_071900.2:p.Ala520Thr NM_022455.4 missense_variant NM_022455.4:c.1558G>A NP_071900.2:p.Ala520Thr NSD1 ERCC4 16 14029352 C/G 0.1 NM_005236.2 missense_variant NM_005236.2:c.1563C>G NP_005227.1:p.Ser521Arg NM_005236.2 missense_variant NM_005236.2:c.1563C>G NP_005227.1:p.Ser521Arg ERCC4 APC 5 112179362 A/G 0 NM_000038.5 missense_variant NM_000038.5:c.8071A>G NP_000029.2:p.Asn2691Asp NM_000038.5 missense_variant NM_000038.5:c.8071A>G NP_000029.2:p.Asn2691Asp APC FANCA 16 89833610 T/G 0 NM_000135.2 missense_variant NM_000135.2:c.2540A>C NP_000126.2:p.Lys847Thr NM_000135.2 missense_variant NM_000135.2:c.2540A>C NP_000126.2:p.Lys847Thr FANCA NSD1 5 176637804 G/A 0 NM_022455.4 missense_variant NM_022455.4:c.2404G>A NP_071900.2:p.Glu802Lys NM_022455.4 missense_variant NM_022455.4:c.2404G>A NP_071900.2:p.Glu802Lys NSD1 FANCF 11 22647256 G/A 0 NM_022725.3 missense_variant NM_022725.3:c.101C>T NP_073562.1:p.Ala34Val NM_022725.3 missense_variant NM_022725.3:c.101C>T NP_073562.1:p.Ala34Val FANCF NF1 17 29554281 T/C 0 NM_001042492.2 missense_variant NM_001042492.2:c.2297T>C NP_001035957.1:p.Ile766Thr NM_000267.3 missense_variant NM_000267.3:c.2297T>C NP_000258.1:p.Ile766Thr NF1 SLX4 16 3639991 C/A 0 NM_032444.2 missense_variant NM_032444.2:c.3648G>T NP_115820.2:p.Gln1216His NM_032444.2 missense_variant NM_032444.2:c.3648G>T NP_115820.2:p.Gln1216His SLX4 WRN 8 30924558 A/C 0 NM_000553.4 missense_variant NM_000553.4:c.514A>C NP_000544.2:p.Thr172Pro NM_000553.4 missense_variant NM_000553.4:c.514A>C NP_000544.2:p.Thr172Pro WRN TSC2 16 2103368 C/T 0.02 NM_000548.3 missense_variant NM_000548.3:c.251C>T NP_000539.2:p.Ala84Val NM_000548.3 missense_variant NM_000548.3:c.251C>T NP_000539.2:p.Ala84Val TSC2 MLH1 3 37070316 A/G 0 NM_000249.3 missense_variant NM_000249.3:c.1451A>G NP_000240.1:p.Asp484Gly NM_000249.3 missense_variant NM_000249.3:c.1451A>G NP_000240.1:p.Asp484Gly MLH1 FANCF 11 22647209 G/A 0.08 NM_022725.3 missense_variant NM_022725.3:c.148C>T NP_073562.1:p.Arg50Trp NM_022725.3 missense_variant NM_022725.3:c.148C>T NP_073562.1:p.Arg50Trp FANCF MSH2 2 47641430 C/T 0 NM_000251.2 missense_variant NM_000251.2:c.815C>T NP_000242.1:p.Ala272Val NM_000251.2 missense_variant NM_000251.2:c.815C>T NP_000242.1:p.Ala272Val MSH2 MSH6 2 48030613 G/A 0 NM_000179.2 missense_variant NM_000179.2:c.3227G>A NP_000170.1:p.Arg1076His NM_000179.2 missense_variant NM_000179.2:c.3227G>A NP_000170.1:p.Arg1076His MSH6 FANCD2 3 10085532 C/T 0 NM_033084.3 missense_variant NM_033084.3:c.1118C>T NP_149075.2:p.Ser373Leu NM_033084.3 missense_variant NM_033084.3:c.1118C>T NP_149075.2:p.Ser373Leu FANCD2 RET 10 43596057 C/T 0 NM_020975.4 missense_variant NM_020975.4:c.224C>T NP_066124.1:p.Thr75Met NM_020975.4 missense_variant NM_020975.4:c.224C>T NP_066124.1:p.Thr75Met RET PMS2 7 6022561 T/G 0 NM_000535.5 missense_variant NM_000535.5:c.2068A>C NP_000526.1:p.Lys690Gln NM_000535.5 missense_variant NM_000535.5:c.2068A>C NP_000526.1:p.Lys690Gln PMS2 FANCF 11 22647047 C/A 0 NM_022725.3 missense_variant NM_022725.3:c.310G>T NP_073562.1:p.Gly104Trp NM_022725.3 missense_variant NM_022725.3:c.310G>T NP_073562.1:p.Gly104Trp FANCF FANCM 14 45653029 A/G 0 NM_020937.2 missense_variant NM_020937.2:c.4439A>G NP_065988.1:p.Gln1480Arg NM_020937.2 missense_variant NM_020937.2:c.4439A>G NP_065988.1:p.Gln1480Arg FANCM TSC2 16 2138097 G/A 0.02 NM_000548.3 missense_variant NM_000548.3:c.5117G>A NP_000539.2:p.Arg1706His NM_000548.3 missense_variant NM_000548.3:c.5117G>A NP_000539.2:p.Arg1706His TSC2 GATA2 3 128205754 G/C 0 NM_032638.4 missense_variant NM_032638.4:c.121C>G NP_116027.2:p.Pro41Ala NM_032638.4 missense_variant NM_032638.4:c.121C>G NP_116027.2:p.Pro41Ala GATA2 RHBDF2 17 74473078 C/T 0.04 NM_024599.5 missense_variant NM_024599.5:c.1036G>A NP_078875.4:p.Gly346Arg NM_001005498.3 missense_variant NM_001005498.3:c.949G>A NP_001005498.2:p.Gly317Arg RHBDF2 MSH6 2 48033423 A/T 0.02 NM_000179.2 missense_variant NM_000179.2:c.3727A>T NP_000170.1:p.Thr1243Ser NM_000179.2 missense_variant NM_000179.2:c.3727A>T NP_000170.1:p.Thr1243Ser MSH6 MET 7 116412004 T/C 0 NM_001127500.1 missense_variant NM_001127500.1:c.3043T>C NP_001120972.1:p.Ser1015Pro NM_000245.2 missense_variant NM_000245.2:c.2989T>C NP_000236.2:p.Ser997Pro MET ATM,C11ORF65 11 108216479 A/C 0 NM_000051.3 missense_variant NM_000051.3:c.8428A>C NP_000042.3:p.Lys2810Gln NM_000051.3 missense_variant NM_000051.3:c.8428A>C NP_000042.3:p.Lys2810Gln ATM SLX4 16 3656493 C/T 0.02 NM_032444.2 missense_variant NM_032444.2:c.742G>A NP_115820.2:p.Glu248Lys NM_032444.2 missense_variant NM_032444.2:c.742G>A NP_115820.2:p.Glu248Lys SLX4 ATM,C11ORF65 11 108202643 C/A 0 NM_000051.3 missense_variant NM_000051.3:c.7667C>A NP_000042.3:p.Thr2556Asn NM_000051.3 missense_variant NM_000051.3:c.7667C>A NP_000042.3:p.Thr2556Asn ATM TSC2 16 2129371 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.3226G>A NP_000539.2:p.Gly1076Arg NM_000548.3 missense_variant NM_000548.3:c.3226G>A NP_000539.2:p.Gly1076Arg TSC2 ATM 11 108141988 T/C 0.06 NM_000051.3 missense_variant NM_000051.3:c.2932T>C NP_000042.3:p.Ser978Pro NM_000051.3 missense_variant NM_000051.3:c.2932T>C NP_000042.3:p.Ser978Pro ATM EPCAM 2 47600659 A/T 0 NM_002354.2 missense_variant NM_002354.2:c.134A>T NP_002345.2:p.Gln45Leu NM_002354.2 missense_variant NM_002354.2:c.134A>T NP_002345.2:p.Gln45Leu EPCAM KIT 4 55598084 G/A 0 NM_000222.2 missense_variant NM_000222.2:c.2281G>A NP_000213.1:p.Glu761Lys NM_000222.2 missense_variant NM_000222.2:c.2281G>A NP_000213.1:p.Glu761Lys KIT APC 5 112177930 G/A 0 NM_000038.5 missense_variant NM_000038.5:c.6639G>A NP_000029.2:p.Met2213Ile NM_000038.5 missense_variant NM_000038.5:c.6639G>A NP_000029.2:p.Met2213Ile APC BMPR1A 10 88681437 C/T 0.1 NM_004329.2 missense_variant NM_004329.2:c.1327C>T NP_004320.2:p.Arg443Cys NM_004329.2 missense_variant NM_004329.2:c.1327C>T NP_004320.2:p.Arg443Cys BMPR1A SLX4 16 3640620 G/T 0 NM_032444.2 missense_variant NM_032444.2:c.3019C>A NP_115820.2:p.Gln1007Lys NM_032444.2 missense_variant NM_032444.2:c.3019C>A NP_115820.2:p.Gln1007Lys SLX4 PALB2 16 23646323 T/C 0 NM_024675.3 missense_variant NM_024675.3:c.1544A>G NP_078951.2:p.Lys515Arg NM_024675.3 missense_variant NM_024675.3:c.1544A>G NP_078951.2:p.Lys515Arg PALB2 SDHB 1 17354344 T/C 0 NM_003000.2 missense_variant NM_003000.2:c.440A>G NP_002991.2:p.Tyr147Cys NM_003000.2 missense_variant NM_003000.2:c.440A>G NP_002991.2:p.Tyr147Cys SDHB CHEK2 22 29121018 C/T 0.02 NM_001005735.1 missense_variant NM_001005735.1:c.668G>A NP_001005735.1:p.Arg223His NM_007194.3 missense_variant NM_007194.3:c.539G>A NP_009125.1:p.Arg180His CHEK2 NSD1 5 176722005 A/A 2.74 NM_022455.4 missense_variant NM_022455.4:c.7636G>A NP_071900.2:p.Ala2546Thr NM_022455.4 missense_variant NM_022455.4:c.7636G>A NP_071900.2:p.Ala2546Thr NSD1 NSD1 5 176721119 A/A 5.17 NM_022455.4 missense_variant NM_022455.4:c.6750G>A NP_071900.2:p.Met2250Ile NM_022455.4 missense_variant NM_022455.4:c.6750G>A NP_071900.2:p.Met2250Ile NSD1 NSD1 5 176721151 C/C 5.17 NM_022455.4 missense_variant NM_022455.4:c.6782T>C NP_071900.2:p.Met2261Thr NM_022455.4 missense_variant NM_022455.4:c.6782T>C NP_071900.2:p.Met2261Thr NSD1 PTCH1 9 98211524 G/A 0 NM_000264.3 missense_variant NM_000264.3:c.3631C>T NP_000255.2:p.Pro1211Ser NM_000264.3 missense_variant NM_000264.3:c.3631C>T NP_000255.2:p.Pro1211Ser PTCH1 DICER1 14 95584087 T/C 0 NM_177438.2 missense_variant NM_177438.2:c.1381A>G NP_803187.1:p.Ile461Val NM_177438.2 missense_variant NM_177438.2:c.1381A>G NP_803187.1:p.Ile461Val DICER1 SLX4 16 3656525 C/T 0.6 NM_032444.2 missense_variant NM_032444.2:c.710G>A NP_115820.2:p.Arg237Gln NM_032444.2 missense_variant NM_032444.2:c.710G>A NP_115820.2:p.Arg237Gln SLX4 CEP57 11 95532438 C/T 0 NM_014679.4 missense_variant NM_014679.4:c.88C>T NP_055494.2:p.Arg30Trp NM_014679.4 missense_variant NM_014679.4:c.88C>T NP_055494.2:p.Arg30Trp CEP57 TSC2 16 2121909 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.2071C>T NP_000539.2:p.Arg691Cys NM_000548.3 missense_variant NM_000548.3:c.2071C>T NP_000539.2:p.Arg691Cys TSC2 BLM 15 91306241 G/A 0.06 NM_000057.2 missense_variant NM_000057.2:c.1928G>A NP_000048.1:p.Arg643His NM_000057.2 missense_variant NM_000057.2:c.1928G>A NP_000048.1:p.Arg643His BLM TP53 17 7577559 G/T 0 NM_000546.5 missense_variant NM_000546.5:c.722C>A NP_000537.3:p.Ser241Tyr NM_000546.5 missense_variant NM_000546.5:c.722C>A NP_000537.3:p.Ser241Tyr TP53 CYLD 16 50783668 T/G 0 NM_015247.2 missense_variant NM_015247.2:c.59T>G NP_056062.1:p.Ile20Ser NM_001042412.1 missense_variant NM_001042412.1:c.59T>G NP_001035877.1:p.Ile20Ser CYLD RHBDF2 17 74473066 C/T 0 NM_024599.5 missense_variant NM_024599.5:c.1048G>A NP_078875.4:p.Gly350Ser NM_001005498.3 missense_variant NM_001005498.3:c.961G>A NP_001005498.2:p.Gly321Ser RHBDF2 NF1 17 29557352 T/C 0 NM_001042492.2 missense_variant NM_001042492.2:c.3065T>C NP_001035957.1:p.Met1022Thr NM_000267.3 missense_variant NM_000267.3:c.3065T>C NP_000258.1:p.Met1022Thr NF1 PTCH1 9 98209591 T/C 0 NM_000264.3 missense_variant NM_000264.3:c.3947A>G NP_000255.2:p.Tyr1316Cys NM_000264.3 missense_variant NM_000264.3:c.3947A>G NP_000255.2:p.Tyr1316Cys PTCH1 RET 10 43604673 G/A 0 NM_020975.4 missense_variant NM_020975.4:c.1258G>A NP_066124.1:p.Ala420Thr NM_020975.4 missense_variant NM_020975.4:c.1258G>A NP_066124.1:p.Ala420Thr RET PTCH1 9 98209214 G/A 0.12 NM_000264.3 missense_variant NM_000264.3:c.4324C>T NP_000255.2:p.Arg1442Trp NM_000264.3 missense_variant NM_000264.3:c.4324C>T NP_000255.2:p.Arg1442Trp PTCH1 BRCA2 13 32929392 G/A 0 NM_000059.3 missense_variant NM_000059.3:c.7402G>A NP_000050.2:p.Val2468Ile NM_000059.3 missense_variant NM_000059.3:c.7402G>A NP_000050.2:p.Val2468Ile BRCA2 CHEK2 22 29121242 G/A 0 NM_001005735.1 missense_variant NM_001005735.1:c.562C>T NP_001005735.1:p.Arg188Trp NM_007194.3 missense_variant NM_007194.3:c.433C>T NP_009125.1:p.Arg145Trp CHEK2 BRCA2 13 32937488 G/T 0.06 NM_000059.3 missense_variant NM_000059.3:c.8149G>T NP_000050.2:p.Ala2717Ser NM_000059.3 missense_variant NM_000059.3:c.8149G>T NP_000050.2:p.Ala2717Ser BRCA2 RECQL4 8 145742514 A/G 5.67 NM_004260.3 missense_variant NM_004260.3:c.274T>C NP_004251.3:p.Ser92Pro NM_004260.3 missense_variant NM_004260.3:c.274T>C NP_004251.3:p.Ser92Pro RECQL4 NF1 17 29592323 G/A 0 NM_001042492.2 missense_variant NM_001042492.2:c.4801G>A NP_001035957.1:p.Ala1601Thr NM_000267.3 missense_variant NM_000267.3:c.4738G>A NP_000258.1:p.Ala1580Thr NF1 CDH1 16 68772239 C/A 0.04 NM_004360.3 missense_variant NM_004360.3:c.88C>A NP_004351.1:p.Pro30Thr NM_004360.3 missense_variant NM_004360.3:c.88C>A NP_004351.1:p.Pro30Thr CDH1 BRCA1 17 41244432 G/A 0 NM_007300.3 missense_variant NM_007300.3:c.3116C>T NP_009231.2:p.Ala1039Val NM_007294.3 missense_variant NM_007294.3:c.3116C>T NP_009225.1:p.Ala1039Val BRCA1 FANCE 6 35420417 C/A 0 NM_021922.2 missense_variant NM_021922.2:c.95C>A NP_068741.1:p.Ala32Glu NM_021922.2 missense_variant NM_021922.2:c.95C>A NP_068741.1:p.Ala32Glu FANCE CEP57 11 95546153 G/A 0 NM_014679.4 missense_variant NM_014679.4:c.260G>A NP_055494.2:p.Arg87Lys NM_014679.4 missense_variant NM_014679.4:c.260G>A NP_055494.2:p.Arg87Lys CEP57 RHBDF2 17 74475935 C/G 0 NM_024599.5 missense_variant NM_024599.5:c.239G>C NP_078875.4:p.Arg80Thr NM_001005498.3 missense_variant&splice_region_variant NM_001005498.3:c.152G>C NP_001005498.2:p.Arg51Thr RHBDF2 PALB2 16 23646857 A/G 0.68 NM_024675.3 missense_variant NM_024675.3:c.1010T>C NP_078951.2:p.Leu337Ser NM_024675.3 missense_variant NM_024675.3:c.1010T>C NP_078951.2:p.Leu337Ser PALB2 DICER1 14 95562641 G/A 0 NM_177438.2 missense_variant NM_177438.2:c.4616C>T NP_803187.1:p.Thr1539Met NM_177438.2 missense_variant NM_177438.2:c.4616C>T NP_803187.1:p.Thr1539Met DICER1 BRCA2 13 32907194 C/A 0 NM_000059.3 missense_variant NM_000059.3:c.1579C>A NP_000050.2:p.Pro527Thr NM_000059.3 missense_variant NM_000059.3:c.1579C>A NP_000050.2:p.Pro527Thr BRCA2 BRCA2 13 32930673 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.7544C>T NP_000050.2:p.Thr2515Ile NM_000059.3 missense_variant NM_000059.3:c.7544C>T NP_000050.2:p.Thr2515Ile BRCA2 ALK 2 29917736 C/T 0.04 NM_004304.4 missense_variant NM_004304.4:c.932G>A NP_004295.2:p.Arg311His NM_004304.4 missense_variant NM_004304.4:c.932G>A NP_004295.2:p.Arg311His ALK BLM 15 91310183 C/T 0 NM_000057.2 missense_variant NM_000057.2:c.2237C>T NP_000048.1:p.Ala746Val NM_000057.2 missense_variant NM_000057.2:c.2237C>T NP_000048.1:p.Ala746Val BLM BRCA2 13 32913804 G/A 0.02 NM_000059.3 missense_variant NM_000059.3:c.5312G>A NP_000050.2:p.Gly1771Asp NM_000059.3 missense_variant NM_000059.3:c.5312G>A NP_000050.2:p.Gly1771Asp BRCA2 SLX4 16 3640958 A/C 0.04 NM_032444.2 missense_variant NM_032444.2:c.2681T>G NP_115820.2:p.Val894Gly NM_032444.2 missense_variant NM_032444.2:c.2681T>G NP_115820.2:p.Val894Gly SLX4 FANCD2 3 10094159 A/G 0.28 NM_033084.3 missense_variant NM_033084.3:c.1634A>G NP_149075.2:p.Asn545Ser NM_033084.3 missense_variant NM_033084.3:c.1634A>G NP_149075.2:p.Asn545Ser FANCD2 ATM 11 108173748 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.5488A>G NP_000042.3:p.Met1830Val NM_000051.3 missense_variant NM_000051.3:c.5488A>G NP_000042.3:p.Met1830Val ATM ATM,C11ORF65 11 108214088 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.8408A>G NP_000042.3:p.Lys2803Arg NM_000051.3 missense_variant NM_000051.3:c.8408A>G NP_000042.3:p.Lys2803Arg ATM SLX4 16 3639609 A/G 0 NM_032444.2 missense_variant NM_032444.2:c.4030T>C NP_115820.2:p.Ser1344Pro NM_032444.2 missense_variant NM_032444.2:c.4030T>C NP_115820.2:p.Ser1344Pro SLX4 RUNX1 21 36259336 A/T 0 NM_001754.4 missense_variant NM_001754.4:c.155T>A NP_001745.2:p.Met52Lys NM_001754.4 missense_variant NM_001754.4:c.155T>A NP_001745.2:p.Met52Lys RUNX1 RHBDF2 17 74473329 C/T 0.02 NM_024599.5 missense_variant NM_024599.5:c.940G>A NP_078875.4:p.Ala314Thr NM_001005498.3 missense_variant NM_001005498.3:c.853G>A NP_001005498.2:p.Ala285Thr RHBDF2 CHEK2 22 29091154 T/C 0 NM_001005735.1 missense_variant NM_001005735.1:c.1465A>G NP_001005735.1:p.Asn489Asp NM_007194.3 missense_variant NM_007194.3:c.1336A>G NP_009125.1:p.Asn446Asp CHEK2 EXT2 11 44129782 A/C 0.06 NM_000401.3 missense_variant NM_000401.3:c.619A>C NP_000392.3:p.Met207Leu NM_207122.1 missense_variant NM_207122.1:c.520A>C NP_997005.1:p.Met174Leu EXT2 TSC2 16 2133701 G/A 0.1 NM_000548.3 missense_variant NM_000548.3:c.3889G>A NP_000539.2:p.Ala1297Thr NM_000548.3 missense_variant NM_000548.3:c.3889G>A NP_000539.2:p.Ala1297Thr TSC2 APC 5 112175211 T/A 0 NM_000038.5 missense_variant NM_000038.5:c.3920T>A NP_000029.2:p.Ile1307Lys NM_000038.5 missense_variant NM_000038.5:c.3920T>A NP_000029.2:p.Ile1307Lys APC SBDS 7 66453468 C/A 0 NM_016038.2 missense_variant NM_016038.2:c.643G>T NP_057122.2:p.Gly215Cys NM_016038.2 missense_variant NM_016038.2:c.643G>T NP_057122.2:p.Gly215Cys SBDS SBDS 7 66453470 G/A 0 NM_016038.2 missense_variant NM_016038.2:c.641C>T NP_057122.2:p.Pro214Leu NM_016038.2 missense_variant NM_016038.2:c.641C>T NP_057122.2:p.Pro214Leu SBDS BUB1B,PAK6 15 40509815 G/A 0 NM_001211.5 missense_variant NM_001211.5:c.2797G>A NP_001202.4:p.Val933Ile NM_001211.5 missense_variant NM_001211.5:c.2797G>A NP_001202.4:p.Val933Ile BUB1B NF1 17 29552168 T/C 0.06 NM_001042492.2 missense_variant NM_001042492.2:c.1901T>C NP_001035957.1:p.Ile634Thr NM_000267.3 missense_variant NM_000267.3:c.1901T>C NP_000258.1:p.Ile634Thr NF1 NF1 17 29553639 A/C 0 NM_001042492.2 missense_variant NM_001042492.2:c.2188A>C NP_001035957.1:p.Asn730His NM_000267.3 missense_variant NM_000267.3:c.2188A>C NP_000258.1:p.Asn730His NF1 NF1 17 29553655 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.2204A>G NP_001035957.1:p.Tyr735Cys NM_000267.3 missense_variant NM_000267.3:c.2204A>G NP_000258.1:p.Tyr735Cys NF1 NF1 17 29556383 T/A 0 NM_001042492.2 missense_variant NM_001042492.2:c.2750T>A NP_001035957.1:p.Val917Asp NM_000267.3 missense_variant NM_000267.3:c.2750T>A NP_000258.1:p.Val917Asp NF1 NF1 17 29557285 C/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.2998C>T NP_001035957.1:p.Arg1000Cys NM_000267.3 missense_variant NM_000267.3:c.2998C>T NP_000258.1:p.Arg1000Cys NF1 NF1 17 29585495 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.4307A>G NP_001035957.1:p.Glu1436Gly NM_000267.3 missense_variant NM_000267.3:c.4244A>G NP_000258.1:p.Glu1415Gly NF1 BRIP1 17 59770823 C/A 0 NM_032043.2 missense_variant NM_032043.2:c.2543G>T NP_114432.2:p.Arg848Leu NM_032043.2 missense_variant NM_032043.2:c.2543G>T NP_114432.2:p.Arg848Leu BRIP1 FANCE 6 35425720 C/G 0 NM_021922.2 missense_variant NM_021922.2:c.928C>G NP_068741.1:p.Pro310Ala NM_021922.2 missense_variant NM_021922.2:c.928C>G NP_068741.1:p.Pro310Ala FANCE PMS2 7 6042238 G/A 0.1 NM_000535.5 missense_variant NM_000535.5:c.383C>T NP_000526.1:p.Ser128Leu NM_000535.5 missense_variant NM_000535.5:c.383C>T NP_000526.1:p.Ser128Leu PMS2 XPC 3 14220043 C/A 0 NM_004628.4 missense_variant NM_004628.4:c.26G>T NP_004619.3:p.Gly9Val NM_004628.4 missense_variant NM_004628.4:c.26G>T NP_004619.3:p.Gly9Val XPC ERCC2 19 45867799 G/A 0.06 NM_000400.3 missense_variant NM_000400.3:c.601C>T NP_000391.1:p.His201Tyr NM_000400.3 missense_variant NM_000400.3:c.601C>T NP_000391.1:p.His201Tyr ERCC2 APC 5 112179359 G/A 0.1 NM_000038.5 missense_variant NM_000038.5:c.8068G>A NP_000029.2:p.Ala2690Thr NM_000038.5 missense_variant NM_000038.5:c.8068G>A NP_000029.2:p.Ala2690Thr APC TMEM127 2 96930966 C/A 0 NM_017849.3 missense_variant NM_017849.3:c.154G>T NP_060319.1:p.Ala52Ser NM_017849.3 missense_variant NM_017849.3:c.154G>T NP_060319.1:p.Ala52Ser TMEM127 FANCC 9 98009786 C/T 0 NM_000136.2 missense_variant NM_000136.2:c.178G>A NP_000127.2:p.Val60Ile NM_000136.2 missense_variant NM_000136.2:c.178G>A NP_000127.2:p.Val60Ile FANCC SBDS 7 66458359 T/C 0 NM_016038.2 missense_variant NM_016038.2:c.304A>G NP_057122.2:p.Thr102Ala NM_016038.2 missense_variant NM_016038.2:c.304A>G NP_057122.2:p.Thr102Ala SBDS PRF1 10 72358407 C/T 0.04 NM_005041.4 missense_variant NM_005041.4:c.1070G>A NP_005032.2:p.Arg357Gln NM_005041.4 missense_variant NM_005041.4:c.1070G>A NP_005032.2:p.Arg357Gln PRF1 FANCC 9 97864012 T/G 0 NM_000136.2 missense_variant NM_000136.2:c.1654A>C NP_000127.2:p.Lys552Gln NM_000136.2 missense_variant NM_000136.2:c.1654A>C NP_000127.2:p.Lys552Gln FANCC FLCN 17 17125879 G/A 0.06 NM_144997.5 missense_variant NM_144997.5:c.715C>T NP_659434.2:p.Arg239Cys NM_144997.5 missense_variant NM_144997.5:c.715C>T NP_659434.2:p.Arg239Cys FLCN ALK 2 29543736 G/G 1.6 NM_004304.4 missense_variant NM_004304.4:c.1427T>C NP_004295.2:p.Val476Ala NM_004304.4 missense_variant NM_004304.4:c.1427T>C NP_004295.2:p.Val476Ala ALK BLM 15 91303918 A/G 0 NM_000057.2 missense_variant NM_000057.2:c.1315A>G NP_000048.1:p.Met439Val NM_000057.2 missense_variant NM_000057.2:c.1315A>G NP_000048.1:p.Met439Val BLM FANCA 16 89874756 G/A 5.33 NM_000135.2 missense_variant NM_000135.2:c.542C>T NP_000126.2:p.Ala181Val NM_000135.2 missense_variant NM_000135.2:c.542C>T NP_000126.2:p.Ala181Val FANCA ERCC2 19 45868335 G/A 0 NM_000400.3 missense_variant NM_000400.3:c.442C>T NP_000391.1:p.His148Tyr NM_000400.3 missense_variant NM_000400.3:c.442C>T NP_000391.1:p.His148Tyr ERCC2 FANCD2 3 10103845 C/T 0.12 NM_033084.3 missense_variant NM_033084.3:c.1777C>T NP_149075.2:p.Pro593Ser NM_033084.3 missense_variant NM_033084.3:c.1777C>T NP_149075.2:p.Pro593Ser FANCD2 GPC3 X 132826404 C/T 0.45 NM_001164617.1 missense_variant NM_001164617.1:c.1354G>A NP_001158089.1:p.Val452Met NM_004484.3 missense_variant NM_004484.3:c.1285G>A NP_004475.1:p.Val429Met GPC3 CDH1 16 68867247 G/A 0.04 NM_004360.3 missense_variant NM_004360.3:c.2494G>A NP_004351.1:p.Val832Met NM_004360.3 missense_variant NM_004360.3:c.2494G>A NP_004351.1:p.Val832Met CDH1 NF2 22 30070923 C/T 0.04 NM_000268.3 missense_variant NM_000268.3:c.1439C>T NP_000259.1:p.Thr480Met NM_000268.3 missense_variant NM_000268.3:c.1439C>T NP_000259.1:p.Thr480Met NF2 SUFU 10 104359297 G/T 0.28 NM_016169.3 missense_variant NM_016169.3:c.1018G>T NP_057253.2:p.Ala340Ser NM_016169.3 missense_variant NM_016169.3:c.1018G>T NP_057253.2:p.Ala340Ser SUFU SLX4 16 3639827 A/A 6.29 NM_032444.2 missense_variant NM_032444.2:c.3812C>T NP_115820.2:p.Ser1271Phe NM_032444.2 missense_variant NM_032444.2:c.3812C>T NP_115820.2:p.Ser1271Phe SLX4 MSH2 2 47643537 C/G 0 NM_000251.2 missense_variant NM_000251.2:c.1045C>G NP_000242.1:p.Pro349Ala NM_000251.2 missense_variant NM_000251.2:c.1045C>G NP_000242.1:p.Pro349Ala MSH2 SLX4 16 3639699 G/T 0 NM_032444.2 missense_variant NM_032444.2:c.3940C>A NP_115820.2:p.Gln1314Lys NM_032444.2 missense_variant NM_032444.2:c.3940C>A NP_115820.2:p.Gln1314Lys SLX4 SLX4 16 3647857 G/C 0 NM_032444.2 missense_variant NM_032444.2:c.1307C>G NP_115820.2:p.Ala436Gly NM_032444.2 missense_variant NM_032444.2:c.1307C>G NP_115820.2:p.Ala436Gly SLX4 BLM 15 91292772 A/G 0.02 NM_000057.2 missense_variant NM_000057.2:c.274A>G NP_000048.1:p.Asn92Asp NM_000057.2 missense_variant NM_000057.2:c.274A>G NP_000048.1:p.Asn92Asp BLM FANCG 9 35078724 G/A 0 NM_004629.1 missense_variant NM_004629.1:c.185C>T NP_004620.1:p.Ala62Val NM_004629.1 missense_variant NM_004629.1:c.185C>T NP_004620.1:p.Ala62Val FANCG EGFR 7 55269020 C/T 0.04 NM_005228.3 missense_variant NM_005228.3:c.3086C>T NP_005219.2:p.Thr1029Met NM_005228.3 missense_variant NM_005228.3:c.3086C>T NP_005219.2:p.Thr1029Met EGFR BIVM-ERCC5,ERCC5 13 103514997 C/G 0 NM_001204425.1 missense_variant NM_001204425.1:c.2860C>G NP_001191354.1:p.Arg954Gly NM_000123.3 missense_variant NM_000123.3:c.1498C>G NP_000114.2:p.Arg500Gly ERCC5 SLX4 16 3639582 G/T 0 NM_032444.2 missense_variant NM_032444.2:c.4057C>A NP_115820.2:p.His1353Asn NM_032444.2 missense_variant NM_032444.2:c.4057C>A NP_115820.2:p.His1353Asn SLX4 FANCD2 3 10119870 C/G 0 NM_033084.3 missense_variant NM_033084.3:c.2965C>G NP_149075.2:p.Pro989Ala NM_033084.3 missense_variant NM_033084.3:c.2965C>G NP_149075.2:p.Pro989Ala FANCD2 BUB1B 15 40493149 A/G 0 NM_001211.5 missense_variant NM_001211.5:c.1535A>G NP_001202.4:p.Glu512Gly NM_001211.5 missense_variant NM_001211.5:c.1535A>G NP_001202.4:p.Glu512Gly BUB1B BRIP1 17 59934442 T/C 0 NM_032043.2 missense_variant NM_032043.2:c.356A>G NP_114432.2:p.Asn119Ser NM_032043.2 missense_variant NM_032043.2:c.356A>G NP_114432.2:p.Asn119Ser BRIP1 ERCC2 19 45867013 C/T 0 NM_000400.3 missense_variant NM_000400.3:c.1106G>A NP_000391.1:p.Arg369His NM_000400.3 missense_variant NM_000400.3:c.1106G>A NP_000391.1:p.Arg369His ERCC2 ATM 11 108151729 G/A 0 NM_000051.3 missense_variant NM_000051.3:c.3410G>A NP_000042.3:p.Ser1137Asn NM_000051.3 missense_variant NM_000051.3:c.3410G>A NP_000042.3:p.Ser1137Asn ATM FANCD2 3 10081411 A/G 1.34 NM_033084.3 missense_variant NM_033084.3:c.577A>G NP_149075.2:p.Thr193Ala NM_033084.3 missense_variant NM_033084.3:c.577A>G NP_149075.2:p.Thr193Ala FANCD2 NF1 17 29490381 C/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.466C>T NP_001035957.1:p.Arg156Cys NM_000267.3 missense_variant NM_000267.3:c.466C>T NP_000258.1:p.Arg156Cys NF1 BRCA2 13 32911935 A/G 0.02 NM_000059.3 missense_variant NM_000059.3:c.3443A>G NP_000050.2:p.Gln1148Arg NM_000059.3 missense_variant NM_000059.3:c.3443A>G NP_000050.2:p.Gln1148Arg BRCA2 ERCC4 16 14042104 T/C 0 NM_005236.2 missense_variant NM_005236.2:c.2651T>C NP_005227.1:p.Leu884Pro NM_005236.2 missense_variant NM_005236.2:c.2651T>C NP_005227.1:p.Leu884Pro ERCC4 FLCN 17 17129621 C/G 0 NM_144997.5 missense_variant NM_144997.5:c.265G>C NP_659434.2:p.Ala89Pro NM_144997.5 missense_variant NM_144997.5:c.265G>C NP_659434.2:p.Ala89Pro FLCN FANCA 16 89877386 G/C 0 NM_000135.2 missense_variant NM_000135.2:c.377C>G NP_000126.2:p.Thr126Arg NM_000135.2 missense_variant NM_000135.2:c.377C>G NP_000126.2:p.Thr126Arg FANCA MET 7 116339544 G/A 0.06 NM_001127500.1 missense_variant NM_001127500.1:c.406G>A NP_001120972.1:p.Val136Ile NM_000245.2 missense_variant NM_000245.2:c.406G>A NP_000236.2:p.Val136Ile MET EGFR 7 55211136 G/A 0 NM_005228.3 missense_variant NM_005228.3:c.379G>A NP_005219.2:p.Ala127Thr NM_005228.3 missense_variant NM_005228.3:c.379G>A NP_005219.2:p.Ala127Thr EGFR ATM,C11ORF65 11 108202716 A/C 0.06 NM_000051.3 missense_variant NM_000051.3:c.7740A>C NP_000042.3:p.Arg2580Ser NM_000051.3 missense_variant NM_000051.3:c.7740A>C NP_000042.3:p.Arg2580Ser ATM CEBPA 19 33792939 G/A 0 NM_004364.3 missense_variant NM_004364.3:c.382C>T NP_004355.2:p.Pro128Ser NM_004364.3 missense_variant NM_004364.3:c.382C>T NP_004355.2:p.Pro128Ser CEBPA PRF1 10 72358477 C/T 0 NM_005041.4 missense_variant NM_005041.4:c.1000G>A NP_005032.2:p.Gly334Ser NM_005041.4 missense_variant NM_005041.4:c.1000G>A NP_005032.2:p.Gly334Ser PRF1 BRIP1 17 59885901 G/C 0 NM_032043.2 missense_variant NM_032043.2:c.845C>G NP_114432.2:p.Thr282Ser NM_032043.2 missense_variant NM_032043.2:c.845C>G NP_114432.2:p.Thr282Ser BRIP1 DICER1 14 95590785 G/C 0.02 NM_177438.2 missense_variant NM_177438.2:c.1124C>G NP_803187.1:p.Pro375Arg NM_177438.2 missense_variant NM_177438.2:c.1124C>G NP_803187.1:p.Pro375Arg DICER1 VHL 3 10183712 C/G 0 NM_000551.3 missense_variant NM_000551.3:c.181C>G NP_000542.1:p.Pro61Ala NM_000551.3 missense_variant NM_000551.3:c.181C>G NP_000542.1:p.Pro61Ala VHL FANCA 16 89862388 A/G 0.46 NM_000135.2 missense_variant NM_000135.2:c.932T>C NP_000126.2:p.Ile311Thr NM_000135.2 missense_variant NM_000135.2:c.932T>C NP_000126.2:p.Ile311Thr FANCA ATM 11 108121546 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.1354A>G NP_000042.3:p.Thr452Ala NM_000051.3 missense_variant NM_000051.3:c.1354A>G NP_000042.3:p.Thr452Ala ATM BRCA2 13 32906831 G/A 0 NM_000059.3 missense_variant NM_000059.3:c.1216G>A NP_000050.2:p.Ala406Thr NM_000059.3 missense_variant NM_000059.3:c.1216G>A NP_000050.2:p.Ala406Thr BRCA2 BRCA2 13 32906834 C/G 0 NM_000059.3 missense_variant NM_000059.3:c.1219C>G NP_000050.2:p.Gln407Glu NM_000059.3 missense_variant NM_000059.3:c.1219C>G NP_000050.2:p.Gln407Glu BRCA2 RHBDF2 17 74473023 C/T 0.02 NM_024599.5 missense_variant NM_024599.5:c.1091G>A NP_078875.4:p.Arg364Gln NM_001005498.3 missense_variant NM_001005498.3:c.1004G>A NP_001005498.2:p.Arg335Gln RHBDF2 ALK 2 29474116 T/C 0 NM_004304.4 missense_variant NM_004304.4:c.2059A>G NP_004295.2:p.Thr687Ala NM_004304.4 missense_variant NM_004304.4:c.2059A>G NP_004295.2:p.Thr687Ala ALK RB1 13 48916774 T/C 0 NM_000321.2 missense_variant NM_000321.2:c.304T>C NP_000312.2:p.Cys102Arg NM_000321.2 missense_variant NM_000321.2:c.304T>C NP_000312.2:p.Cys102Arg RB1 NF1 17 29548926 T/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.1700T>G NP_001035957.1:p.Val567Gly NM_000267.3 missense_variant NM_000267.3:c.1700T>G NP_000258.1:p.Val567Gly NF1 BRCA2 13 32953952 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.9019A>G NP_000050.2:p.Arg3007Gly NM_000059.3 missense_variant NM_000059.3:c.9019A>G NP_000050.2:p.Arg3007Gly BRCA2 SDHC 1 161298222 G/C 0 NM_003001.3 missense_variant NM_003001.3:c.114G>C NP_002992.1:p.Met38Ile NM_003001.3 missense_variant NM_003001.3:c.114G>C NP_002992.1:p.Met38Ile SDHC APC 5 112178805 G/A 0.04 NM_000038.5 missense_variant NM_000038.5:c.7514G>A NP_000029.2:p.Arg2505Gln NM_000038.5 missense_variant NM_000038.5:c.7514G>A NP_000029.2:p.Arg2505Gln APC BRCA2 13 32937521 G/A 0.06 NM_000059.3 missense_variant NM_000059.3:c.8182G>A NP_000050.2:p.Val2728Ile NM_000059.3 missense_variant NM_000059.3:c.8182G>A NP_000050.2:p.Val2728Ile BRCA2 ERCC4 16 14031664 G/A 0 NM_005236.2 missense_variant NM_005236.2:c.1853G>A NP_005227.1:p.Arg618His NM_005236.2 missense_variant NM_005236.2:c.1853G>A NP_005227.1:p.Arg618His ERCC4 BRCA2 13 32914814 C/T 0.12 NM_000059.3 missense_variant NM_000059.3:c.6322C>T NP_000050.2:p.Arg2108Cys NM_000059.3 missense_variant NM_000059.3:c.6322C>T NP_000050.2:p.Arg2108Cys BRCA2 BUB1B 15 40488857 G/C 3.65 NM_001211.5 missense_variant NM_001211.5:c.1170G>C NP_001202.4:p.Glu390Asp NM_001211.5 missense_variant NM_001211.5:c.1170G>C NP_001202.4:p.Glu390Asp BUB1B NSD1 5 176722398 A/T 0 NM_022455.4 missense_variant NM_022455.4:c.8029A>T NP_071900.2:p.Thr2677Ser NM_022455.4 missense_variant NM_022455.4:c.8029A>T NP_071900.2:p.Thr2677Ser NSD1 FANCD2 3 10074529 A/C 0.02 NM_033084.3 missense_variant NM_033084.3:c.78A>C NP_149075.2:p.Gln26His NM_033084.3 missense_variant NM_033084.3:c.78A>C NP_149075.2:p.Gln26His FANCD2 WRN 8 30941252 A/G 0 NM_000553.4 missense_variant NM_000553.4:c.1307A>G NP_000544.2:p.Tyr436Cys NM_000553.4 missense_variant NM_000553.4:c.1307A>G NP_000544.2:p.Tyr436Cys WRN PTCH1 9 98220501 C/T 0 NM_000264.3 missense_variant NM_000264.3:c.2962G>A NP_000255.2:p.Val988Met NM_000264.3 missense_variant NM_000264.3:c.2962G>A NP_000255.2:p.Val988Met PTCH1 RUNX1 21 36259309 G/A 0 NM_001754.4 missense_variant NM_001754.4:c.182C>T NP_001745.2:p.Pro61Leu NM_001754.4 missense_variant NM_001754.4:c.182C>T NP_001745.2:p.Pro61Leu RUNX1 XPC 3 14214473 C/T 0 NM_004628.4 missense_variant NM_004628.4:c.193G>A NP_004619.3:p.Gly65Ser NM_004628.4 missense_variant NM_004628.4:c.193G>A NP_004619.3:p.Gly65Ser XPC BLM 15 91358460 C/T 0 NM_000057.2 missense_variant NM_000057.2:c.4205C>T NP_000048.1:p.Pro1402Leu NM_000057.2 missense_variant NM_000057.2:c.4205C>T NP_000048.1:p.Pro1402Leu BLM SLX4 16 3656682 C/T 0 NM_032444.2 missense_variant NM_032444.2:c.553G>A NP_115820.2:p.Asp185Asn NM_032444.2 missense_variant NM_032444.2:c.553G>A NP_115820.2:p.Asp185Asn SLX4 RHBDF2 17 74475295 G/A 0 NM_024599.5 missense_variant NM_024599.5:c.424C>T NP_078875.4:p.Arg142Cys NM_001005498.3 missense_variant NM_001005498.3:c.337C>T NP_001005498.2:p.Arg113Cys RHBDF2 WT1 11 32456689 T/A 0 NM_024426.4 missense_variant NM_024426.4:c.203A>T NP_077744.3:p.Gln68Leu NM_024426.4 missense_variant NM_024426.4:c.203A>T NP_077744.3:p.Gln68Leu WT1 BIVM-ERCC5,ERCC5 13 103515165 T/G 0 NM_001204425.1 missense_variant NM_001204425.1:c.3028T>G NP_001191354.1:p.Phe1010Val NM_000123.3 missense_variant NM_000123.3:c.1666T>G NP_000114.2:p.Phe556Val ERCC5 TMEM127 2 96920586 C/T 0 NM_017849.3 missense_variant NM_017849.3:c.394G>A NP_060319.1:p.Ala132Thr NM_017849.3 missense_variant NM_017849.3:c.394G>A NP_060319.1:p.Ala132Thr TMEM127 BRCA2 13 32893271 A/G 0.08 NM_000059.3 missense_variant NM_000059.3:c.125A>G NP_000050.2:p.Tyr42Cys NM_000059.3 missense_variant NM_000059.3:c.125A>G NP_000050.2:p.Tyr42Cys BRCA2 RHBDF2 17 74475318 C/T 0.2 NM_024599.5 missense_variant NM_024599.5:c.401G>A NP_078875.4:p.Gly134Glu NM_001005498.3 missense_variant NM_001005498.3:c.314G>A NP_001005498.2:p.Gly105Glu RHBDF2 MLH1 3 37083797 C/T 0 NM_000249.3 missense_variant NM_000249.3:c.1706C>T NP_000240.1:p.Ala569Val NM_000249.3 missense_variant NM_000249.3:c.1706C>T NP_000240.1:p.Ala569Val MLH1 FANCC 9 97864062 C/T 0 NM_000136.2 missense_variant NM_000136.2:c.1604G>A NP_000127.2:p.Arg535His NM_000136.2 missense_variant NM_000136.2:c.1604G>A NP_000127.2:p.Arg535His FANCC WT1 11 32417857 T/G 0 NM_024426.4 missense_variant NM_024426.4:c.1195A>C NP_077744.3:p.Asn399His NM_024426.4 missense_variant NM_024426.4:c.1195A>C NP_077744.3:p.Asn399His WT1 APC 5 112176516 G/A 0 NM_000038.5 missense_variant NM_000038.5:c.5225G>A NP_000029.2:p.Arg1742His NM_000038.5 missense_variant NM_000038.5:c.5225G>A NP_000029.2:p.Arg1742His APC TSC1 9 135772014 C/T 0.12 NM_000368.4 missense_variant NM_000368.4:c.3103G>A NP_000359.1:p.Gly1035Ser NM_000368.4 missense_variant NM_000368.4:c.3103G>A NP_000359.1:p.Gly1035Ser TSC1 FANCE 6 35425721 C/A 0.1 NM_021922.2 missense_variant NM_021922.2:c.929C>A NP_068741.1:p.Pro310Gln NM_021922.2 missense_variant NM_021922.2:c.929C>A NP_068741.1:p.Pro310Gln FANCE BRCA2 13 32911524 C/G 0 NM_000059.3 missense_variant NM_000059.3:c.3032C>G NP_000050.2:p.Thr1011Arg NM_000059.3 missense_variant NM_000059.3:c.3032C>G NP_000050.2:p.Thr1011Arg BRCA2 SLX4 16 3647806 G/C 0 NM_032444.2 missense_variant NM_032444.2:c.1358C>G NP_115820.2:p.Pro453Arg NM_032444.2 missense_variant NM_032444.2:c.1358C>G NP_115820.2:p.Pro453Arg SLX4 ALK 2 30143420 G/A 0 NM_004304.4 missense_variant NM_004304.4:c.106C>T NP_004295.2:p.Pro36Ser NM_004304.4 missense_variant NM_004304.4:c.106C>T NP_004295.2:p.Pro36Ser ALK ATM 11 108170506 A/C 0.02 NM_000051.3 missense_variant NM_000051.3:c.5071A>C NP_000042.3:p.Ser1691Arg NM_000051.3 missense_variant NM_000051.3:c.5071A>C NP_000042.3:p.Ser1691Arg ATM SLX4 16 3633101 T/G 0 NM_032444.2 missense_variant NM_032444.2:c.5150A>C NP_115820.2:p.Gln1717Pro NM_032444.2 missense_variant NM_032444.2:c.5150A>C NP_115820.2:p.Gln1717Pro SLX4 BRCA2 13 32953550 G/A 1 NM_000059.3 missense_variant NM_000059.3:c.8851G>A NP_000050.2:p.Ala2951Thr NM_000059.3 missense_variant NM_000059.3:c.8851G>A NP_000050.2:p.Ala2951Thr BRCA2 TSC2 16 2125838 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.2584G>A NP_000539.2:p.Ala862Thr NM_000548.3 missense_variant NM_000548.3:c.2584G>A NP_000539.2:p.Ala862Thr TSC2 SLX4 16 3652175 A/C 0 NM_032444.2 missense_variant NM_032444.2:c.894T>G NP_115820.2:p.Ile298Met NM_032444.2 missense_variant NM_032444.2:c.894T>G NP_115820.2:p.Ile298Met SLX4 GATA2 3 128204960 G/C 0.16 NM_032638.4 missense_variant NM_032638.4:c.481C>G NP_116027.2:p.Pro161Ala NM_032638.4 missense_variant NM_032638.4:c.481C>G NP_116027.2:p.Pro161Ala GATA2 BUB1B,PAK6 15 40509781 G/C 0 NM_001211.5 missense_variant NM_001211.5:c.2763G>C NP_001202.4:p.Gln921His NM_001211.5 missense_variant NM_001211.5:c.2763G>C NP_001202.4:p.Gln921His BUB1B PRKAR1A 17 66526486 G/A 0 NM_212471.2 missense_variant NM_212471.2:c.1042G>A NP_997636.1:p.Val348Ile NM_002734.4 missense_variant NM_002734.4:c.1042G>A NP_002725.1:p.Val348Ile PRKAR1A GATA2 3 128204612 T/C 0.02 NM_032638.4 missense_variant NM_032638.4:c.829A>G NP_116027.2:p.Ser277Gly NM_032638.4 missense_variant NM_032638.4:c.829A>G NP_116027.2:p.Ser277Gly GATA2 SDHC 1 161293444 C/G 0 NM_003001.3 missense_variant NM_003001.3:c.61C>G NP_002992.1:p.Gln21Glu NM_003001.3 missense_variant NM_003001.3:c.61C>G NP_002992.1:p.Gln21Glu SDHC PTCH1 9 98242279 C/G 0 NM_000264.3 missense_variant NM_000264.3:c.1039G>C NP_000255.2:p.Val347Leu NM_000264.3 missense_variant NM_000264.3:c.1039G>C NP_000255.2:p.Val347Leu PTCH1 ERCC4 16 14041570 T/C 0 NM_005236.2 missense_variant NM_005236.2:c.2117T>C NP_005227.1:p.Ile706Thr NM_005236.2 missense_variant NM_005236.2:c.2117T>C NP_005227.1:p.Ile706Thr ERCC4 PTCH1 9 98209514 G/A 0 NM_000264.3 missense_variant NM_000264.3:c.4024C>T NP_000255.2:p.Arg1342Cys NM_000264.3 missense_variant NM_000264.3:c.4024C>T NP_000255.2:p.Arg1342Cys PTCH1 WRN 8 30941225 C/T 0 NM_000553.4 missense_variant NM_000553.4:c.1280C>T NP_000544.2:p.Pro427Leu NM_000553.4 missense_variant NM_000553.4:c.1280C>T NP_000544.2:p.Pro427Leu WRN TSC1 9 135797351 G/A 0 NM_000368.4 missense_variant NM_000368.4:c.518C>T NP_000359.1:p.Ala173Val NM_000368.4 missense_variant NM_000368.4:c.518C>T NP_000359.1:p.Ala173Val TSC1 BIVM-ERCC5,ERCC5 13 103514425 C/T 0 NM_001204425.1 missense_variant NM_001204425.1:c.2288C>T NP_001191354.1:p.Pro763Leu NM_000123.3 missense_variant NM_000123.3:c.926C>T NP_000114.2:p.Pro309Leu ERCC5 NF1 17 29556145 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.2512A>G NP_001035957.1:p.Ile838Val NM_000267.3 missense_variant NM_000267.3:c.2512A>G NP_000258.1:p.Ile838Val NF1 MET 7 116409808 A/G 0 NM_001127500.1 missense_variant NM_001127500.1:c.2747A>G NP_001120972.1:p.Asn916Ser NM_000245.2 missense_variant NM_000245.2:c.2693A>G NP_000236.2:p.Asn898Ser MET NBN 8 90965597 A/T 0.04 NM_002485.4 missense_variant NM_002485.4:c.1720T>A NP_002476.2:p.Leu574Ile NM_002485.4 missense_variant NM_002485.4:c.1720T>A NP_002476.2:p.Leu574Ile NBN ALK 2 29443616 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.3601G>A NP_004295.2:p.Gly1201Arg NM_004304.4 missense_variant NM_004304.4:c.3601G>A NP_004295.2:p.Gly1201Arg ALK ALK 2 29448384 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.3115G>A NP_004295.2:p.Val1039Met NM_004304.4 missense_variant NM_004304.4:c.3115G>A NP_004295.2:p.Val1039Met ALK XPC 3 14190228 G/T 0 NM_004628.4 missense_variant NM_004628.4:c.2254C>A NP_004619.3:p.Pro752Thr NM_004628.4 missense_variant NM_004628.4:c.2254C>A NP_004619.3:p.Pro752Thr XPC TSC2 16 2103389 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.272C>T NP_000539.2:p.Pro91Leu NM_000548.3 missense_variant NM_000548.3:c.272C>T NP_000539.2:p.Pro91Leu TSC2 DICER1 14 95566123 A/T 0 NM_177438.2 missense_variant NM_177438.2:c.4200T>A NP_803187.1:p.Asp1400Glu NM_177438.2 missense_variant NM_177438.2:c.4200T>A NP_803187.1:p.Asp1400Glu DICER1 CDC73 1 193202204 G/A 0 NM_024529.4 missense_variant NM_024529.4:c.1236G>A NP_078805.3:p.Met412Ile NM_024529.4 missense_variant NM_024529.4:c.1236G>A NP_078805.3:p.Met412Ile CDC73 FANCM 14 45645949 C/T 0 NM_020937.2 missense_variant NM_020937.2:c.3992C>T NP_065988.1:p.Pro1331Leu NM_020937.2 missense_variant NM_020937.2:c.3992C>T NP_065988.1:p.Pro1331Leu FANCM ATM,C11ORF65 11 108183194 A/C 0.02 NM_000051.3 missense_variant NM_000051.3:c.5975A>C NP_000042.3:p.Lys1992Thr NM_000051.3 missense_variant NM_000051.3:c.5975A>C NP_000042.3:p.Lys1992Thr ATM SLX4 16 3658460 G/A 0 NM_032444.2 missense_variant NM_032444.2:c.506C>T NP_115820.2:p.Ser169Leu NM_032444.2 missense_variant NM_032444.2:c.506C>T NP_115820.2:p.Ser169Leu SLX4 BRCA1 17 41245471 T/T 3.35 NM_007300.3 missense_variant NM_007300.3:c.2077G>A NP_009231.2:p.Asp693Asn NM_007294.3 missense_variant NM_007294.3:c.2077G>A NP_009225.1:p.Asp693Asn BRCA1 MET 7 116411924 G/A 0 NM_001127500.1 missense_variant NM_001127500.1:c.2963G>A NP_001120972.1:p.Arg988His NM_000245.2 missense_variant NM_000245.2:c.2909G>A NP_000236.2:p.Arg970His MET XPC 3 14206341 G/C 0.16 NM_004628.4 missense_variant NM_004628.4:c.872C>G NP_004619.3:p.Ser291Cys NM_004628.4 missense_variant NM_004628.4:c.872C>G NP_004619.3:p.Ser291Cys XPC PMS2 7 6026829 A/T 0 NM_000535.5 missense_variant NM_000535.5:c.1567T>A NP_000526.1:p.Ser523Thr NM_000535.5 missense_variant NM_000535.5:c.1567T>A NP_000526.1:p.Ser523Thr PMS2 PHOX2B 4 41749451 C/T 0 NM_003924.3 missense_variant NM_003924.3:c.344G>A NP_003915.2:p.Arg115Lys NM_003924.3 missense_variant NM_003924.3:c.344G>A NP_003915.2:p.Arg115Lys PHOX2B BRCA2 13 32953904 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.8971C>T NP_000050.2:p.Arg2991Cys NM_000059.3 missense_variant NM_000059.3:c.8971C>T NP_000050.2:p.Arg2991Cys BRCA2 ALK 2 29416399 C/A 0 NM_004304.4 missense_variant NM_004304.4:c.4554G>T NP_004295.2:p.Lys1518Asn NM_004304.4 missense_variant NM_004304.4:c.4554G>T NP_004295.2:p.Lys1518Asn ALK FANCD2 3 10088394 C/G 0 NM_033084.3 missense_variant NM_033084.3:c.1265C>G NP_149075.2:p.Ser422Cys NM_033084.3 missense_variant NM_033084.3:c.1265C>G NP_149075.2:p.Ser422Cys FANCD2 NSD1 5 176671221 A/G 0 NM_022455.4 missense_variant NM_022455.4:c.4328A>G NP_071900.2:p.Asn1443Ser NM_022455.4 missense_variant NM_022455.4:c.4328A>G NP_071900.2:p.Asn1443Ser NSD1 KIT 4 55575669 G/A 0 NM_000222.2 missense_variant NM_000222.2:c.1195G>A NP_000213.1:p.Val399Ile NM_000222.2 missense_variant NM_000222.2:c.1195G>A NP_000213.1:p.Val399Ile KIT WRN 8 31024682 C/T 0 NM_000553.4 missense_variant NM_000553.4:c.4127C>T NP_000544.2:p.Pro1376Leu NM_000553.4 missense_variant NM_000553.4:c.4127C>T NP_000544.2:p.Pro1376Leu WRN ATM,C11ORF65 11 108196896 C/T 0 NM_000051.3 missense_variant NM_000051.3:c.6919C>T NP_000042.3:p.Leu2307Phe NM_000051.3 missense_variant NM_000051.3:c.6919C>T NP_000042.3:p.Leu2307Phe ATM BRCA2 13 32929047 G/C 0 NM_000059.3 missense_variant NM_000059.3:c.7057G>C NP_000050.2:p.Gly2353Arg NM_000059.3 missense_variant NM_000059.3:c.7057G>C NP_000050.2:p.Gly2353Arg BRCA2 GPC3 X 132834011 C/A 0 NM_001164617.1 missense_variant NM_001164617.1:c.1147G>T NP_001158089.1:p.Ala383Ser NM_004484.3 missense_variant NM_004484.3:c.1078G>T NP_004475.1:p.Ala360Ser GPC3 NSD1 5 176637295 G/A 0.02 NM_022455.4 missense_variant NM_022455.4:c.1895G>A NP_071900.2:p.Arg632Gln NM_022455.4 missense_variant NM_022455.4:c.1895G>A NP_071900.2:p.Arg632Gln NSD1 APC 5 112175261 C/G 0 NM_000038.5 missense_variant NM_000038.5:c.3970C>G NP_000029.2:p.Pro1324Ala NM_000038.5 missense_variant NM_000038.5:c.3970C>G NP_000029.2:p.Pro1324Ala APC VHL 3 10183605 C/T 0.04 NM_000551.3 missense_variant NM_000551.3:c.74C>T NP_000542.1:p.Pro25Leu NM_000551.3 missense_variant NM_000551.3:c.74C>T NP_000542.1:p.Pro25Leu VHL TSC2 16 2132493 G/A 0.02 NM_000548.3 missense_variant NM_000548.3:c.3871G>A NP_000539.2:p.Val1291Ile NM_000548.3 missense_variant NM_000548.3:c.3871G>A NP_000539.2:p.Val1291Ile TSC2 WRN 8 30946433 A/T 0 NM_000553.4 missense_variant NM_000553.4:c.1604A>T NP_000544.2:p.Glu535Val NM_000553.4 missense_variant NM_000553.4:c.1604A>T NP_000544.2:p.Glu535Val WRN FANCL 2 58392939 A/G 0 NM_001114636.1 missense_variant NM_001114636.1:c.626T>C NP_001108108.1:p.Met209Thr NM_018062.3 missense_variant NM_018062.3:c.611T>C NP_060532.2:p.Met204Thr FANCL NSD1 5 176638492 G/A 0 NM_022455.4 missense_variant NM_022455.4:c.3092G>A NP_071900.2:p.Arg1031Gln NM_022455.4 missense_variant NM_022455.4:c.3092G>A NP_071900.2:p.Arg1031Gln NSD1 FANCM 14 45665477 G/A 0 NM_020937.2 missense_variant NM_020937.2:c.5443G>A NP_065988.1:p.Gly1815Arg NM_020937.2 missense_variant NM_020937.2:c.5443G>A NP_065988.1:p.Gly1815Arg FANCM APC 5 112176819 C/T 0 NM_000038.5 missense_variant NM_000038.5:c.5528C>T NP_000029.2:p.Pro1843Leu NM_000038.5 missense_variant NM_000038.5:c.5528C>T NP_000029.2:p.Pro1843Leu APC BRCA1 17 41243712 G/A 0 NM_007300.3 missense_variant NM_007300.3:c.3836C>T NP_009231.2:p.Ala1279Val NM_007294.3 missense_variant NM_007294.3:c.3836C>T NP_009225.1:p.Ala1279Val BRCA1 FANCA 16 89857830 G/A 0 NM_000135.2 missense_variant NM_000135.2:c.1340C>T NP_000126.2:p.Ser447Leu NM_000135.2 missense_variant NM_000135.2:c.1340C>T NP_000126.2:p.Ser447Leu FANCA PRF1 10 72360577 G/A 0.02 NM_005041.4 missense_variant NM_005041.4:c.82C>T NP_005032.2:p.Arg28Cys NM_005041.4 missense_variant NM_005041.4:c.82C>T NP_005032.2:p.Arg28Cys PRF1 NF1 17 29585402 T/C 0 NM_001042492.2 missense_variant NM_001042492.2:c.4214T>C NP_001035957.1:p.Val1405Ala NM_000267.3 missense_variant NM_000267.3:c.4151T>C NP_000258.1:p.Val1384Ala NF1 BLM 15 91334038 T/A 0 NM_000057.2 missense_variant NM_000057.2:c.2983T>A NP_000048.1:p.Tyr995Asn NM_000057.2 missense_variant NM_000057.2:c.2983T>A NP_000048.1:p.Tyr995Asn BLM BRIP1 17 59820428 A/C 0 NM_032043.2 missense_variant NM_032043.2:c.2325T>G NP_114432.2:p.Asn775Lys NM_032043.2 missense_variant NM_032043.2:c.2325T>G NP_114432.2:p.Asn775Lys BRIP1 RB1 13 48939088 C/T 0.04 NM_000321.2 missense_variant NM_000321.2:c.920C>T NP_000312.2:p.Thr307Ile NM_000321.2 missense_variant NM_000321.2:c.920C>T NP_000312.2:p.Thr307Ile RB1 EXT2 11 44129620 A/A 0.06 NM_000401.3 missense_variant NM_000401.3:c.457G>A NP_000392.3:p.Val153Ile NM_207122.1 missense_variant NM_207122.1:c.358G>A NP_997005.1:p.Val120Ile EXT2 BRCA2 13 32911565 A/G 0.02 NM_000059.3 missense_variant NM_000059.3:c.3073A>G NP_000050.2:p.Lys1025Glu NM_000059.3 missense_variant NM_000059.3:c.3073A>G NP_000050.2:p.Lys1025Glu BRCA2 FANCI 15 89820042 G/A 0 NM_001113378.1 missense_variant NM_001113378.1:c.1213G>A NP_001106849.1:p.Glu405Lys NM_001113378.1 missense_variant NM_001113378.1:c.1213G>A NP_001106849.1:p.Glu405Lys FANCI SUFU 10 104353757 G/A 0 NM_016169.3 missense_variant NM_016169.3:c.691G>A NP_057253.2:p.Gly231Ser NM_016169.3 missense_variant NM_016169.3:c.691G>A NP_057253.2:p.Gly231Ser SUFU BMPR1A 10 88683178 G/T 0 NM_004329.2 missense_variant NM_004329.2:c.1388G>T NP_004320.2:p.Ser463Ile NM_004329.2 missense_variant NM_004329.2:c.1388G>T NP_004320.2:p.Ser463Ile BMPR1A PALB2 16 23619257 A/G 0 NM_024675.3 missense_variant NM_024675.3:c.3278T>C NP_078951.2:p.Ile1093Thr NM_024675.3 missense_variant NM_024675.3:c.3278T>C NP_078951.2:p.Ile1093Thr PALB2 FANCI 15 89820016 A/G 0 NM_001113378.1 missense_variant NM_001113378.1:c.1187A>G NP_001106849.1:p.Lys396Arg NM_001113378.1 missense_variant NM_001113378.1:c.1187A>G NP_001106849.1:p.Lys396Arg FANCI MLH1 3 37092025 C/T 2.91 NM_000249.3 missense_variant NM_000249.3:c.2152C>T NP_000240.1:p.His718Tyr NM_000249.3 missense_variant NM_000249.3:c.2152C>T NP_000240.1:p.His718Tyr MLH1 EGFR 7 55273306 C/T 0.02 NM_005228.3 missense_variant NM_005228.3:c.3629C>T NP_005219.2:p.Ala1210Val NM_005228.3 missense_variant NM_005228.3:c.3629C>T NP_005219.2:p.Ala1210Val EGFR HNF1A 12 121438923 C/A 0 NM_000545.5 missense_variant NM_000545.5:c.1824C>A NP_000536.5:p.Ser608Arg NM_000545.5 missense_variant NM_000545.5:c.1824C>A NP_000536.5:p.Ser608Arg HNF1A BRIP1 17 59924572 G/A 0.16 NM_032043.2 missense_variant NM_032043.2:c.517C>T NP_114432.2:p.Arg173Cys NM_032043.2 missense_variant NM_032043.2:c.517C>T NP_114432.2:p.Arg173Cys BRIP1 EGFR 7 55214320 G/A 0 NM_005228.3 missense_variant NM_005228.3:c.446G>A NP_005219.2:p.Arg149Gln NM_005228.3 missense_variant NM_005228.3:c.446G>A NP_005219.2:p.Arg149Gln EGFR RB1 13 49039375 G/A 0 NM_000321.2 missense_variant NM_000321.2:c.2360G>A NP_000312.2:p.Arg787Gln NM_000321.2 missense_variant NM_000321.2:c.2360G>A NP_000312.2:p.Arg787Gln RB1 CYLD 16 50785548 G/T 0 NM_015247.2 missense_variant NM_015247.2:c.538G>T NP_056062.1:p.Val180Leu NM_001042412.1 missense_variant NM_001042412.1:c.538G>T NP_001035877.1:p.Val180Leu CYLD PMS2 7 6026906 C/T 0 NM_000535.5 missense_variant NM_000535.5:c.1490G>A NP_000526.1:p.Gly497Asp NM_000535.5 missense_variant NM_000535.5:c.1490G>A NP_000526.1:p.Gly497Asp PMS2 PTCH1 9 98211538 C/T 0.02 NM_000264.3 missense_variant NM_000264.3:c.3617G>A NP_000255.2:p.Arg1206His NM_000264.3 missense_variant NM_000264.3:c.3617G>A NP_000255.2:p.Arg1206His PTCH1 APC 5 112177068 T/G 0 NM_000038.5 missense_variant NM_000038.5:c.5777T>G NP_000029.2:p.Ile1926Arg NM_000038.5 missense_variant NM_000038.5:c.5777T>G NP_000029.2:p.Ile1926Arg APC MLH1 3 37090074 A/G 0.26 NM_000249.3 missense_variant NM_000249.3:c.1963A>G NP_000240.1:p.Ile655Val NM_000249.3 missense_variant NM_000249.3:c.1963A>G NP_000240.1:p.Ile655Val MLH1 WRN 8 30969150 C/G 0 NM_000553.4 missense_variant NM_000553.4:c.2108C>G NP_000544.2:p.Thr703Ser NM_000553.4 missense_variant NM_000553.4:c.2108C>G NP_000544.2:p.Thr703Ser WRN BIVM-ERCC5,ERCC5 13 103514604 G/T 0 NM_001204425.1 missense_variant NM_001204425.1:c.2467G>T NP_001191354.1:p.Ala823Ser NM_000123.3 missense_variant NM_000123.3:c.1105G>T NP_000114.2:p.Ala369Ser ERCC5 BUB1B 15 40477518 A/G 0 NM_001211.5 missense_variant NM_001211.5:c.904A>G NP_001202.4:p.Arg302Gly NM_001211.5 missense_variant NM_001211.5:c.904A>G NP_001202.4:p.Arg302Gly BUB1B TSC2 16 2108822 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.923G>A NP_000539.2:p.Arg308Gln NM_000548.3 missense_variant NM_000548.3:c.923G>A NP_000539.2:p.Arg308Gln TSC2 MET 7 116380062 A/G 0 NM_001127500.1 missense_variant NM_001127500.1:c.1451A>G NP_001120972.1:p.His484Arg NM_000245.2 missense_variant NM_000245.2:c.1451A>G NP_000236.2:p.His484Arg MET RET 10 43596033 G/A 0.56 NM_020975.4 missense_variant NM_020975.4:c.200G>A NP_066124.1:p.Arg67His NM_020975.4 missense_variant NM_020975.4:c.200G>A NP_066124.1:p.Arg67His RET BLM 15 91358417 G/C 0 NM_000057.2 missense_variant NM_000057.2:c.4162G>C NP_000048.1:p.Ala1388Pro NM_000057.2 missense_variant NM_000057.2:c.4162G>C NP_000048.1:p.Ala1388Pro BLM TSC2 16 2110765 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.1070C>T NP_000539.2:p.Ala357Val NM_000548.3 missense_variant NM_000548.3:c.1070C>T NP_000539.2:p.Ala357Val TSC2 TSC2 16 2129354 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.3209C>T NP_000539.2:p.Thr1070Met NM_000548.3 missense_variant NM_000548.3:c.3209C>T NP_000539.2:p.Thr1070Met TSC2 RHBDF2 17 74475328 C/T 0.02 NM_024599.5 missense_variant NM_024599.5:c.391G>A NP_078875.4:p.Asp131Asn NM_001005498.3 missense_variant NM_001005498.3:c.304G>A NP_001005498.2:p.Asp102Asn RHBDF2 RET 10 43601830 G/A 0.38 NM_020975.4 missense_variant NM_020975.4:c.874G>A NP_066124.1:p.Val292Met NM_020975.4 missense_variant NM_020975.4:c.874G>A NP_066124.1:p.Val292Met RET TSC2 16 2133798 G/A 2.02 NM_000548.3 missense_variant NM_000548.3:c.3986G>A NP_000539.2:p.Arg1329His NM_000548.3 missense_variant NM_000548.3:c.3986G>A NP_000539.2:p.Arg1329His TSC2 MAX 14 65544657 C/T 0 NM_002382.4 missense_variant NM_002382.4:c.269G>A NP_002373.3:p.Arg90Gln NM_002382.4 missense_variant NM_002382.4:c.269G>A NP_002373.3:p.Arg90Gln MAX SLX4 16 3639713 G/A 0.02 NM_032444.2 missense_variant NM_032444.2:c.3926C>T NP_115820.2:p.Ser1309Phe NM_032444.2 missense_variant NM_032444.2:c.3926C>T NP_115820.2:p.Ser1309Phe SLX4 TSC2 16 2105504 A/G 0 NM_000548.3 missense_variant NM_000548.3:c.583A>G NP_000539.2:p.Ile195Val NM_000548.3 missense_variant NM_000548.3:c.583A>G NP_000539.2:p.Ile195Val TSC2 FANCF 11 22646710 C/G 0.06 NM_022725.3 missense_variant NM_022725.3:c.647G>C NP_073562.1:p.Arg216Pro NM_022725.3 missense_variant NM_022725.3:c.647G>C NP_073562.1:p.Arg216Pro FANCF NF1 17 29556982 A/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.2980A>T NP_001035957.1:p.Asn994Tyr NM_000267.3 missense_variant NM_000267.3:c.2980A>T NP_000258.1:p.Asn994Tyr NF1 CHEK2 22 29107974 C/G 0 NM_001005735.1 missense_variant NM_001005735.1:c.844G>C NP_001005735.1:p.Glu282Gln NM_007194.3 missense_variant NM_007194.3:c.715G>C NP_009125.1:p.Glu239Gln CHEK2 ATM,C11ORF65 11 108216525 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.8474A>G NP_000042.3:p.Gln2825Arg NM_000051.3 missense_variant NM_000051.3:c.8474A>G NP_000042.3:p.Gln2825Arg ATM RB1 13 49033851 A/G 0 NM_000321.2 missense_variant NM_000321.2:c.1988A>G NP_000312.2:p.Asn663Ser NM_000321.2 missense_variant NM_000321.2:c.1988A>G NP_000312.2:p.Asn663Ser RB1 PTCH1 9 98209609 C/A 0 NM_000264.3 missense_variant NM_000264.3:c.3929G>T NP_000255.2:p.Gly1310Val NM_000264.3 missense_variant NM_000264.3:c.3929G>T NP_000255.2:p.Gly1310Val PTCH1 TSC2 16 2131763 A/G 0 NM_000548.3 missense_variant NM_000548.3:c.3778A>G NP_000539.2:p.Thr1260Ala NM_000548.3 missense_variant NM_000548.3:c.3778A>G NP_000539.2:p.Thr1260Ala TSC2 PRF1 10 72360499 G/A 0.04 NM_005041.4 missense_variant NM_005041.4:c.160C>T NP_005032.2:p.Arg54Cys NM_005041.4 missense_variant NM_005041.4:c.160C>T NP_005032.2:p.Arg54Cys PRF1 EXT1 8 118832021 G/C 0 NM_000127.2 missense_variant NM_000127.2:c.1430C>G NP_000118.2:p.Pro477Arg NM_000127.2 missense_variant NM_000127.2:c.1430C>G NP_000118.2:p.Pro477Arg EXT1 ERCC2 19 45860604 G/A 0 NM_000400.3 missense_variant NM_000400.3:c.1403C>T NP_000391.1:p.Pro468Leu NM_000400.3 missense_variant NM_000400.3:c.1403C>T NP_000391.1:p.Pro468Leu ERCC2 NSD1 5 176721316 T/C 0 NM_022455.4 missense_variant NM_022455.4:c.6947T>C NP_071900.2:p.Leu2316Pro NM_022455.4 missense_variant NM_022455.4:c.6947T>C NP_071900.2:p.Leu2316Pro NSD1 BRCA2 13 32914782 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.6290C>T NP_000050.2:p.Thr2097Met NM_000059.3 missense_variant NM_000059.3:c.6290C>T NP_000050.2:p.Thr2097Met BRCA2 PRF1 10 72358167 G/A 0.06 NM_005041.4 missense_variant NM_005041.4:c.1310C>T NP_005032.2:p.Ala437Val NM_005041.4 missense_variant NM_005041.4:c.1310C>T NP_005032.2:p.Ala437Val PRF1 TP53 17 7573948 C/A 0.02 NM_000546.5 missense_variant NM_000546.5:c.1079G>T NP_000537.3:p.Gly360Val NM_000546.5 missense_variant NM_000546.5:c.1079G>T NP_000537.3:p.Gly360Val TP53 PMS1 2 190728798 A/G 0 NM_000534.4 missense_variant NM_000534.4:c.2186A>G NP_000525.1:p.Asn729Ser NM_000534.4 missense_variant NM_000534.4:c.2186A>G NP_000525.1:p.Asn729Ser PMS1 ATM 11 108117787 C/T 0.14 NM_000051.3 missense_variant NM_000051.3:c.998C>T NP_000042.3:p.Ser333Phe NM_000051.3 missense_variant NM_000051.3:c.998C>T NP_000042.3:p.Ser333Phe ATM BRIP1 17 59885956 G/A 0.14 NM_032043.2 missense_variant NM_032043.2:c.790C>T NP_114432.2:p.Arg264Trp NM_032043.2 missense_variant NM_032043.2:c.790C>T NP_114432.2:p.Arg264Trp BRIP1 PALB2 16 23647238 G/A 2.49 NM_024675.3 missense_variant NM_024675.3:c.629C>T NP_078951.2:p.Pro210Leu NM_024675.3 missense_variant NM_024675.3:c.629C>T NP_078951.2:p.Pro210Leu PALB2 PTCH1 9 98209387 G/A 0 NM_000264.3 missense_variant NM_000264.3:c.4151C>T NP_000255.2:p.Pro1384Leu NM_000264.3 missense_variant NM_000264.3:c.4151C>T NP_000255.2:p.Pro1384Leu PTCH1 BRCA1 17 41258504 A/C 0 NM_007300.3 missense_variant NM_007300.3:c.181T>G NP_009231.2:p.Cys61Gly NM_007294.3 missense_variant NM_007294.3:c.181T>G NP_009225.1:p.Cys61Gly BRCA1 RET 10 43606856 G/A 0.38 NM_020975.4 missense_variant NM_020975.4:c.1465G>A NP_066124.1:p.Asp489Asn NM_020975.4 missense_variant NM_020975.4:c.1465G>A NP_066124.1:p.Asp489Asn RET TSC2 16 2122944 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.2315C>T NP_000539.2:p.Ala772Val NM_000548.3 missense_variant NM_000548.3:c.2315C>T NP_000539.2:p.Ala772Val TSC2 ERCC4 16 14028153 G/C 0 NM_005236.2 missense_variant NM_005236.2:c.1207G>C NP_005227.1:p.Gly403Arg NM_005236.2 missense_variant NM_005236.2:c.1207G>C NP_005227.1:p.Gly403Arg ERCC4 SLX4 16 3658821 C/T 0 NM_032444.2 missense_variant NM_032444.2:c.145G>A NP_115820.2:p.Glu49Lys NM_032444.2 missense_variant NM_032444.2:c.145G>A NP_115820.2:p.Glu49Lys SLX4 MET 7 116339230 C/A 0 NM_001127500.1 missense_variant NM_001127500.1:c.92C>A NP_001120972.1:p.Ala31Glu NM_000245.2 missense_variant NM_000245.2:c.92C>A NP_000236.2:p.Ala31Glu MET TSC1 9 135778081 G/A 0 NM_000368.4 missense_variant NM_000368.4:c.2302C>T NP_000359.1:p.Arg768Cys NM_000368.4 missense_variant NM_000368.4:c.2302C>T NP_000359.1:p.Arg768Cys TSC1 ATM 11 108122746 C/T 0 NM_000051.3 missense_variant NM_000051.3:c.1790C>T NP_000042.3:p.Pro597Leu NM_000051.3 missense_variant NM_000051.3:c.1790C>T NP_000042.3:p.Pro597Leu ATM RECQL4 8 145741686 C/T 0.08 NM_004260.3 missense_variant NM_004260.3:c.817G>A NP_004251.3:p.Ala273Thr NM_004260.3 missense_variant NM_004260.3:c.817G>A NP_004251.3:p.Ala273Thr RECQL4 HNF1A 12 121416864 T/T 2 NM_000545.5 missense_variant NM_000545.5:c.293C>T NP_000536.5:p.Ala98Val NM_000545.5 missense_variant NM_000545.5:c.293C>T NP_000536.5:p.Ala98Val HNF1A APC 5 112173877 C/G 0.04 NM_000038.5 missense_variant NM_000038.5:c.2586C>G NP_000029.2:p.Asn862Lys NM_000038.5 missense_variant NM_000038.5:c.2586C>G NP_000029.2:p.Asn862Lys APC PRF1 10 72358107 T/A 0 NM_005041.4 missense_variant NM_005041.4:c.1370A>T NP_005032.2:p.Asn457Ile NM_005041.4 missense_variant NM_005041.4:c.1370A>T NP_005032.2:p.Asn457Ile PRF1 BRCA1 17 41243680 T/C 0 NM_007300.3 missense_variant NM_007300.3:c.3868A>G NP_009231.2:p.Lys1290Glu NM_007294.3 missense_variant NM_007294.3:c.3868A>G NP_009225.1:p.Lys1290Glu BRCA1 ERCC2 19 45867086 G/A 0 NM_000400.3 missense_variant NM_000400.3:c.1033C>T NP_000391.1:p.Arg345Cys NM_000400.3 missense_variant NM_000400.3:c.1033C>T NP_000391.1:p.Arg345Cys ERCC2 NF2 22 30067828 G/A 0 NM_000268.3 missense_variant NM_000268.3:c.1013G>A NP_000259.1:p.Arg338His NM_000268.3 missense_variant NM_000268.3:c.1013G>A NP_000259.1:p.Arg338His NF2 BRCA2 13 32907129 T/C 0.04 NM_000059.3 missense_variant NM_000059.3:c.1514T>C NP_000050.2:p.Ile505Thr NM_000059.3 missense_variant NM_000059.3:c.1514T>C NP_000050.2:p.Ile505Thr BRCA2 ATM,C11ORF65 11 108186610 G/A 0.12 NM_000051.3 missense_variant NM_000051.3:c.6067G>A NP_000042.3:p.Gly2023Arg NM_000051.3 missense_variant NM_000051.3:c.6067G>A NP_000042.3:p.Gly2023Arg ATM MSH2 2 47637423 A/G 0 NM_000251.2 missense_variant NM_000251.2:c.557A>G NP_000242.1:p.Asn186Ser NM_000251.2 missense_variant NM_000251.2:c.557A>G NP_000242.1:p.Asn186Ser MSH2 FANCD2 3 10074633 C/T 0.04 NM_033084.3 missense_variant NM_033084.3:c.182C>T NP_149075.2:p.Thr61Met NM_033084.3 missense_variant NM_033084.3:c.182C>T NP_149075.2:p.Thr61Met FANCD2 BMPR1A 10 88683405 T/C 0 NM_004329.2 missense_variant NM_004329.2:c.1528T>C NP_004320.2:p.Ser510Pro NM_004329.2 missense_variant NM_004329.2:c.1528T>C NP_004320.2:p.Ser510Pro BMPR1A TSC2 16 2110677 G/C 0 NM_000548.3 missense_variant NM_000548.3:c.982G>C NP_000539.2:p.Ala328Pro NM_000548.3 missense_variant NM_000548.3:c.982G>C NP_000539.2:p.Ala328Pro TSC2 NF1 17 29560209 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.3686A>G NP_001035957.1:p.Asn1229Ser NM_000267.3 missense_variant NM_000267.3:c.3686A>G NP_000258.1:p.Asn1229Ser NF1 NF1 17 29586129 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.4412A>G NP_001035957.1:p.Asn1471Ser NM_000267.3 missense_variant NM_000267.3:c.4349A>G NP_000258.1:p.Asn1450Ser NF1 ATM,C11ORF65 11 108190688 G/T 0 NM_000051.3 missense_variant NM_000051.3:c.6355G>T NP_000042.3:p.Val2119Leu NM_000051.3 missense_variant NM_000051.3:c.6355G>T NP_000042.3:p.Val2119Leu ATM BRCA2 13 32906957 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.1342C>T NP_000050.2:p.Arg448Cys NM_000059.3 missense_variant NM_000059.3:c.1342C>T NP_000050.2:p.Arg448Cys BRCA2 BIVM-ERCC5,ERCC5 13 103513944 G/G 1.88 NM_001204425.1 missense_variant NM_001204425.1:c.2122A>G NP_001191354.1:p.Met708Val NM_000123.3 missense_variant NM_000123.3:c.760A>G NP_000114.2:p.Met254Val ERCC5 FANCB X 14863136 G/G 0.05 NM_152633.2 missense_variant NM_152633.2:c.1769T>C NP_689846.1:p.Phe590Ser NM_152633.2 missense_variant NM_152633.2:c.1769T>C NP_689846.1:p.Phe590Ser FANCB TSC2 16 2127709 C/G 0 NM_000548.3 missense_variant NM_000548.3:c.2948C>G NP_000539.2:p.Ser983Cys NM_000548.3 missense_variant NM_000548.3:c.2948C>G NP_000539.2:p.Ser983Cys TSC2 PALB2 16 23635372 A/C 0 NM_024675.3 missense_variant NM_024675.3:c.2792T>G NP_078951.2:p.Leu931Arg NM_024675.3 missense_variant NM_024675.3:c.2792T>G NP_078951.2:p.Leu931Arg PALB2 EPCAM 2 47600631 G/A 0 NM_002354.2 missense_variant NM_002354.2:c.106G>A NP_002345.2:p.Val36Ile NM_002354.2 missense_variant NM_002354.2:c.106G>A NP_002345.2:p.Val36Ile EPCAM FANCI 15 89838318 T/T 5.95 NM_001113378.1 missense_variant NM_001113378.1:c.2629A>T NP_001106849.1:p.Ile877Leu NM_001113378.1 missense_variant NM_001113378.1:c.2629A>T NP_001106849.1:p.Ile877Leu FANCI ALK 2 29940500 T/G 0 NM_004304.4 missense_variant NM_004304.4:c.731A>C NP_004295.2:p.Asn244Thr NM_004304.4 missense_variant NM_004304.4:c.731A>C NP_004295.2:p.Asn244Thr ALK BUB1B 15 40488771 A/G 0 NM_001211.5 missense_variant NM_001211.5:c.1084A>G NP_001202.4:p.Ile362Val NM_001211.5 missense_variant NM_001211.5:c.1084A>G NP_001202.4:p.Ile362Val BUB1B WRN 8 30969153 C/G 0 NM_000553.4 missense_variant NM_000553.4:c.2111C>G NP_000544.2:p.Ala704Gly NM_000553.4 missense_variant NM_000553.4:c.2111C>G NP_000544.2:p.Ala704Gly WRN KIT 4 55598040 C/T 0 NM_000222.2 missense_variant NM_000222.2:c.2237C>T NP_000213.1:p.Ser746Leu NM_000222.2 missense_variant NM_000222.2:c.2237C>T NP_000213.1:p.Ser746Leu KIT TSC2 16 2134439 G/T 0 NM_000548.3 missense_variant NM_000548.3:c.4216G>T NP_000539.2:p.Asp1406Tyr NM_000548.3 missense_variant NM_000548.3:c.4216G>T NP_000539.2:p.Asp1406Tyr TSC2 MSH2 2 47635573 A/C 0 NM_000251.2 missense_variant NM_000251.2:c.245A>C NP_000242.1:p.Lys82Thr NM_000251.2 missense_variant NM_000251.2:c.245A>C NP_000242.1:p.Lys82Thr MSH2 SLX4 16 3658953 C/T 0 NM_032444.2 missense_variant NM_032444.2:c.13G>A NP_115820.2:p.Val5Met NM_032444.2 missense_variant NM_032444.2:c.13G>A NP_115820.2:p.Val5Met SLX4 NF1 17 29684321 A/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.7904A>T NP_001035957.1:p.Asp2635Val NM_000267.3 missense_variant NM_000267.3:c.7841A>T NP_000258.1:p.Asp2614Val NF1 EXT2 11 44129636 C/G 0 NM_000401.3 missense_variant NM_000401.3:c.473C>G NP_000392.3:p.Thr158Ser NM_207122.1 missense_variant NM_207122.1:c.374C>G NP_997005.1:p.Thr125Ser EXT2 TSC2 16 2136326 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.4795G>A NP_000539.2:p.Val1599Met NM_000548.3 missense_variant NM_000548.3:c.4795G>A NP_000539.2:p.Val1599Met TSC2 CHEK2 22 29090054 G/T 0.02 NM_001005735.1 missense_variant NM_001005735.1:c.1556C>A NP_001005735.1:p.Thr519Lys NM_007194.3 missense_variant NM_007194.3:c.1427C>A NP_009125.1:p.Thr476Lys CHEK2 RAD51C 17 56798128 A/G 0.4 NM_058216.2 missense_variant NM_058216.2:c.859A>G NP_478123.1:p.Thr287Ala NM_058216.2 missense_variant NM_058216.2:c.859A>G NP_478123.1:p.Thr287Ala RAD51C SLX4 16 3658880 C/G 0 NM_032444.2 missense_variant NM_032444.2:c.86G>C NP_115820.2:p.Arg29Pro NM_032444.2 missense_variant NM_032444.2:c.86G>C NP_115820.2:p.Arg29Pro SLX4 BLM 15 91290633 T/C 0.04 NM_000057.2 missense_variant NM_000057.2:c.11T>C NP_000048.1:p.Val4Ala NM_000057.2 missense_variant NM_000057.2:c.11T>C NP_000048.1:p.Val4Ala BLM ERCC3 2 128016978 A/A 0.1 NM_000122.1 missense_variant NM_000122.1:c.2111C>T NP_000113.1:p.Ser704Leu NM_000122.1 missense_variant NM_000122.1:c.2111C>T NP_000113.1:p.Ser704Leu ERCC3 TSC2 16 2112989 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.1378G>A NP_000539.2:p.Ala460Thr NM_000548.3 missense_variant NM_000548.3:c.1378G>A NP_000539.2:p.Ala460Thr TSC2 RET 10 43600505 C/T 0 NM_020975.4 missense_variant NM_020975.4:c.731C>T NP_066124.1:p.Thr244Ile NM_020975.4 missense_variant NM_020975.4:c.731C>T NP_066124.1:p.Thr244Ile RET FANCM 14 45623169 G/A 0 NM_020937.2 missense_variant NM_020937.2:c.1097G>A NP_065988.1:p.Ser366Asn NM_020937.2 missense_variant NM_020937.2:c.1097G>A NP_065988.1:p.Ser366Asn FANCM FANCM 14 45644816 C/C 0 NM_020937.2 missense_variant NM_020937.2:c.2859A>C NP_065988.1:p.Lys953Asn NM_020937.2 missense_variant NM_020937.2:c.2859A>C NP_065988.1:p.Lys953Asn FANCM BRIP1 17 59885856 T/C 0.04 NM_032043.2 missense_variant NM_032043.2:c.890A>G NP_114432.2:p.Lys297Arg NM_032043.2 missense_variant NM_032043.2:c.890A>G NP_114432.2:p.Lys297Arg BRIP1 TSC2 16 2134508 G/T 0.14 NM_000548.3 missense_variant NM_000548.3:c.4285G>T NP_000539.2:p.Ala1429Ser NM_000548.3 missense_variant NM_000548.3:c.4285G>T NP_000539.2:p.Ala1429Ser TSC2 XPC 3 14199560 C/T 0 NM_004628.4 missense_variant NM_004628.4:c.1823G>A NP_004619.3:p.Arg608Lys NM_004628.4 missense_variant NM_004628.4:c.1823G>A NP_004619.3:p.Arg608Lys XPC BRCA2 13 32954037 A/C 0 NM_000059.3 missense_variant NM_000059.3:c.9104A>C NP_000050.2:p.Tyr3035Ser NM_000059.3 missense_variant NM_000059.3:c.9104A>C NP_000050.2:p.Tyr3035Ser BRCA2 WRN 8 31015037 G/A 0 NM_000553.4 missense_variant NM_000553.4:c.3973G>A NP_000544.2:p.Val1325Ile NM_000553.4 missense_variant NM_000553.4:c.3973G>A NP_000544.2:p.Val1325Ile WRN GATA2 3 128199935 G/A 0 NM_032638.4 missense_variant NM_032638.4:c.1370C>T NP_116027.2:p.Thr457Met NM_032638.4 missense_variant NM_032638.4:c.1370C>T NP_116027.2:p.Thr457Met GATA2 APC 5 112176317 A/G 0 NM_000038.5 missense_variant NM_000038.5:c.5026A>G NP_000029.2:p.Arg1676Gly NM_000038.5 missense_variant NM_000038.5:c.5026A>G NP_000029.2:p.Arg1676Gly APC APC 5 112178690 C/A 0 NM_000038.5 missense_variant NM_000038.5:c.7399C>A NP_000029.2:p.Pro2467Thr NM_000038.5 missense_variant NM_000038.5:c.7399C>A NP_000029.2:p.Pro2467Thr APC FH 1 241667535 A/C 0 NM_000143.3 missense_variant NM_000143.3:c.915T>G NP_000134.2:p.Phe305Leu NM_000143.3 missense_variant NM_000143.3:c.915T>G NP_000134.2:p.Phe305Leu FH ATM 11 108129732 C/T 0 NM_000051.3 missense_variant NM_000051.3:c.2396C>T NP_000042.3:p.Ala799Val NM_000051.3 missense_variant NM_000051.3:c.2396C>T NP_000042.3:p.Ala799Val ATM WRN 8 30915988 A/G 0 NM_000553.4 missense_variant NM_000553.4:c.25A>G NP_000544.2:p.Thr9Ala NM_000553.4 missense_variant NM_000553.4:c.25A>G NP_000544.2:p.Thr9Ala WRN WRN 8 30921935 A/A 7.43 NM_000553.4 missense_variant NM_000553.4:c.340G>A NP_000544.2:p.Val114Ile NM_000553.4 missense_variant NM_000553.4:c.340G>A NP_000544.2:p.Val114Ile WRN DICER1 14 95579535 G/A 0 NM_177438.2 missense_variant NM_177438.2:c.1934C>T NP_803187.1:p.Pro645Leu NM_177438.2 missense_variant NM_177438.2:c.1934C>T NP_803187.1:p.Pro645Leu DICER1 NF1 17 29554568 G/A 0 NM_001042492.2 missense_variant NM_001042492.2:c.2353G>A NP_001035957.1:p.Glu785Lys NM_000267.3 missense_variant NM_000267.3:c.2353G>A NP_000258.1:p.Glu785Lys NF1 ATM 11 108160480 T/G 0.04 NM_000051.3 missense_variant NM_000051.3:c.4388T>G NP_000042.3:p.Phe1463Cys NM_000051.3 missense_variant NM_000051.3:c.4388T>G NP_000042.3:p.Phe1463Cys ATM BRCA1 17 41223048 A/G 0.26 NM_007300.3 missense_variant NM_007300.3:c.4946T>C NP_009231.2:p.Met1649Thr NM_007294.3 missense_variant NM_007294.3:c.4883T>C NP_009225.1:p.Met1628Thr BRCA1 WRN 8 30969188 C/T 0.02 NM_000553.4 missense_variant NM_000553.4:c.2146C>T NP_000544.2:p.Arg716Cys NM_000553.4 missense_variant NM_000553.4:c.2146C>T NP_000544.2:p.Arg716Cys WRN PRF1 10 72358215 A/C 0.02 NM_005041.4 missense_variant NM_005041.4:c.1262T>G NP_005032.2:p.Phe421Cys NM_005041.4 missense_variant NM_005041.4:c.1262T>G NP_005032.2:p.Phe421Cys PRF1 RECQL4 8 145741964 C/T 0 NM_004260.3 missense_variant NM_004260.3:c.539G>A NP_004251.3:p.Ser180Asn NM_004260.3 missense_variant NM_004260.3:c.539G>A NP_004251.3:p.Ser180Asn RECQL4 FH 1 241672039 A/G 0 NM_000143.3 missense_variant NM_000143.3:c.602T>C NP_000134.2:p.Ile201Thr NM_000143.3 missense_variant NM_000143.3:c.602T>C NP_000134.2:p.Ile201Thr FH DIS3L2 2 233201242 A/T 0 NM_152383.4 missense_variant NM_152383.4:c.2560A>T NP_689596.4:p.Ser854Cys NM_152383.4 missense_variant NM_152383.4:c.2560A>T NP_689596.4:p.Ser854Cys DIS3L2 PMS2 7 6042143 G/T 0 NM_000535.5 missense_variant NM_000535.5:c.478C>A NP_000526.1:p.Gln160Lys NM_000535.5 missense_variant NM_000535.5:c.478C>A NP_000526.1:p.Gln160Lys PMS2 MSH6 2 48027520 G/C 0 NM_000179.2 missense_variant NM_000179.2:c.2398G>C NP_000170.1:p.Val800Leu NM_000179.2 missense_variant NM_000179.2:c.2398G>C NP_000170.1:p.Val800Leu MSH6 FANCI 15 89835976 C/T 0 NM_001113378.1 missense_variant NM_001113378.1:c.2050C>T NP_001106849.1:p.Pro684Ser NM_001113378.1 missense_variant NM_001113378.1:c.2050C>T NP_001106849.1:p.Pro684Ser FANCI FLCN 17 17131216 G/A 0 NM_144997.5 missense_variant NM_144997.5:c.236C>T NP_659434.2:p.Ser79Leu NM_144997.5 missense_variant NM_144997.5:c.236C>T NP_659434.2:p.Ser79Leu FLCN MSH2 2 47637301 T/G 0.02 NM_000251.2 missense_variant NM_000251.2:c.435T>G NP_000242.1:p.Ile145Met NM_000251.2 missense_variant NM_000251.2:c.435T>G NP_000242.1:p.Ile145Met MSH2 MLH1 3 37061893 T/C 0.02 NM_000249.3 missense_variant NM_000249.3:c.977T>C NP_000240.1:p.Val326Ala NM_000249.3 missense_variant NM_000249.3:c.977T>C NP_000240.1:p.Val326Ala MLH1 XPC 3 14200379 G/C 0 NM_004628.4 missense_variant NM_004628.4:c.1004C>G NP_004619.3:p.Ser335Cys NM_004628.4 missense_variant NM_004628.4:c.1004C>G NP_004619.3:p.Ser335Cys XPC MET 7 116397710 A/G 0 NM_001127500.1 missense_variant NM_001127500.1:c.1984A>G NP_001120972.1:p.Ile662Val NM_000245.2 missense_variant NM_000245.2:c.1984A>G NP_000236.2:p.Ile662Val MET NSD1 5 176721256 T/C 0 NM_022455.4 missense_variant NM_022455.4:c.6887T>C NP_071900.2:p.Val2296Ala NM_022455.4 missense_variant NM_022455.4:c.6887T>C NP_071900.2:p.Val2296Ala NSD1 ERCC4 16 14041879 C/T 0 NM_005236.2 missense_variant NM_005236.2:c.2426C>T NP_005227.1:p.Thr809Met NM_005236.2 missense_variant NM_005236.2:c.2426C>T NP_005227.1:p.Thr809Met ERCC4 FANCF 11 22646398 A/A 0.5 NM_022725.3 missense_variant NM_022725.3:c.959C>T NP_073562.1:p.Pro320Leu NM_022725.3 missense_variant NM_022725.3:c.959C>T NP_073562.1:p.Pro320Leu FANCF ATM,C11ORF65 11 108216571 G/C 0 NM_000051.3 missense_variant NM_000051.3:c.8520G>C NP_000042.3:p.Leu2840Phe NM_000051.3 missense_variant NM_000051.3:c.8520G>C NP_000042.3:p.Leu2840Phe ATM BRCA2 13 32913562 A/C 0 NM_000059.3 missense_variant NM_000059.3:c.5070A>C NP_000050.2:p.Lys1690Asn NM_000059.3 missense_variant NM_000059.3:c.5070A>C NP_000050.2:p.Lys1690Asn BRCA2 CDH1 16 68842734 C/T 0 NM_004360.3 missense_variant NM_004360.3:c.670C>T NP_004351.1:p.Arg224Cys NM_004360.3 missense_variant NM_004360.3:c.670C>T NP_004351.1:p.Arg224Cys CDH1 XPC 3 14206351 C/G 0 NM_004628.4 missense_variant NM_004628.4:c.862G>C NP_004619.3:p.Ala288Pro NM_004628.4 missense_variant NM_004628.4:c.862G>C NP_004619.3:p.Ala288Pro XPC FANCM 14 45644847 G/A 0 NM_020937.2 missense_variant NM_020937.2:c.2890G>A NP_065988.1:p.Glu964Lys NM_020937.2 missense_variant NM_020937.2:c.2890G>A NP_065988.1:p.Glu964Lys FANCM CHEK2 22 29107902 C/G 0 NM_001005735.1 missense_variant NM_001005735.1:c.916G>C NP_001005735.1:p.Glu306Gln NM_007194.3 missense_variant NM_007194.3:c.787G>C NP_009125.1:p.Glu263Gln CHEK2 BRCA2 13 32936733 A/T 0 NM_000059.3 missense_variant NM_000059.3:c.7879A>T NP_000050.2:p.Ile2627Phe NM_000059.3 missense_variant NM_000059.3:c.7879A>T NP_000050.2:p.Ile2627Phe BRCA2 BRCA2 13 32953971 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.9038C>T NP_000050.2:p.Thr3013Ile NM_000059.3 missense_variant NM_000059.3:c.9038C>T NP_000050.2:p.Thr3013Ile BRCA2 FANCD2 3 10114981 A/G 0 NM_033084.3 missense_variant NM_033084.3:c.2650A>G NP_149075.2:p.Thr884Ala NM_033084.3 missense_variant NM_033084.3:c.2650A>G NP_149075.2:p.Thr884Ala FANCD2 NSD1 5 176721736 T/C 0 NM_022455.4 missense_variant NM_022455.4:c.7367T>C NP_071900.2:p.Met2456Thr NM_022455.4 missense_variant NM_022455.4:c.7367T>C NP_071900.2:p.Met2456Thr NSD1 PTCH1 9 98209585 G/A 0.02 NM_000264.3 missense_variant NM_000264.3:c.3953C>T NP_000255.2:p.Pro1318Leu NM_000264.3 missense_variant NM_000264.3:c.3953C>T NP_000255.2:p.Pro1318Leu PTCH1 BRCA2 13 32971146 G/C 0.02 NM_000059.3 missense_variant NM_000059.3:c.9613G>C NP_000050.2:p.Ala3205Pro NM_000059.3 missense_variant NM_000059.3:c.9613G>C NP_000050.2:p.Ala3205Pro BRCA2 BRCA2 13 32971147 C/T 0.02 NM_000059.3 missense_variant NM_000059.3:c.9614C>T NP_000050.2:p.Ala3205Val NM_000059.3 missense_variant NM_000059.3:c.9614C>T NP_000050.2:p.Ala3205Val BRCA2 DICER1 14 95582098 T/C 0 NM_177438.2 missense_variant NM_177438.2:c.1813A>G NP_803187.1:p.Met605Val NM_177438.2 missense_variant NM_177438.2:c.1813A>G NP_803187.1:p.Met605Val DICER1 BRCA2 13 32906593 C/A 0.02 NM_000059.3 missense_variant NM_000059.3:c.978C>A NP_000050.2:p.Ser326Arg NM_000059.3 missense_variant NM_000059.3:c.978C>A NP_000050.2:p.Ser326Arg BRCA2 EXT1 8 119123072 C/T 0.02 NM_000127.2 missense_variant NM_000127.2:c.214G>A NP_000118.2:p.Glu72Lys NM_000127.2 missense_variant NM_000127.2:c.214G>A NP_000118.2:p.Glu72Lys EXT1 FANCM 14 45645006 C/T 0 NM_020937.2 missense_variant NM_020937.2:c.3049C>T NP_065988.1:p.Leu1017Phe NM_020937.2 missense_variant NM_020937.2:c.3049C>T NP_065988.1:p.Leu1017Phe FANCM TSC2 16 2120572 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.1832G>A NP_000539.2:p.Arg611Gln NM_000548.3 missense_variant NM_000548.3:c.1832G>A NP_000539.2:p.Arg611Gln TSC2 FANCB X 14861817 C/C 0 NM_152633.2 missense_variant NM_152633.2:c.2452A>G NP_689846.1:p.Arg818Gly NM_152633.2 missense_variant NM_152633.2:c.2452A>G NP_689846.1:p.Arg818Gly FANCB ERCC4 16 14042100 G/A 0.06 NM_005236.2 missense_variant NM_005236.2:c.2647G>A NP_005227.1:p.Glu883Lys NM_005236.2 missense_variant NM_005236.2:c.2647G>A NP_005227.1:p.Glu883Lys ERCC4 ALK 2 30143140 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.386G>A NP_004295.2:p.Gly129Asp NM_004304.4 missense_variant NM_004304.4:c.386G>A NP_004295.2:p.Gly129Asp ALK PMS2 7 6029464 T/G 0 NM_000535.5 missense_variant NM_000535.5:c.1111A>C NP_000526.1:p.Asn371His NM_000535.5 missense_variant NM_000535.5:c.1111A>C NP_000526.1:p.Asn371His PMS2 CHEK2 22 29085140 G/A 0 NM_001005735.1 missense_variant NM_001005735.1:c.1654C>T NP_001005735.1:p.Pro552Ser NM_007194.3 missense_variant NM_007194.3:c.1525C>T NP_009125.1:p.Pro509Ser CHEK2 XPC 3 14220023 C/C 6.51 NM_004628.4 missense_variant NM_004628.4:c.46C>G NP_004619.3:p.Leu16Val NM_004628.4 missense_variant NM_004628.4:c.46C>G NP_004619.3:p.Leu16Val XPC FANCC 9 97879606 C/G 0 NM_000136.2 missense_variant NM_000136.2:c.1063G>C NP_000127.2:p.Asp355His NM_000136.2 missense_variant NM_000136.2:c.1063G>C NP_000127.2:p.Asp355His FANCC FANCD2 3 10116239 C/T 0 NM_033084.3 missense_variant NM_033084.3:c.2741C>T NP_149075.2:p.Thr914Ile NM_033084.3 missense_variant NM_033084.3:c.2741C>T NP_149075.2:p.Thr914Ile FANCD2 TSC2 16 2121861 G/T 0 NM_000548.3 missense_variant NM_000548.3:c.2023G>T NP_000539.2:p.Ala675Ser NM_000548.3 missense_variant NM_000548.3:c.2023G>T NP_000539.2:p.Ala675Ser TSC2 PRF1 10 72358759 G/A 0 NM_005041.4 missense_variant NM_005041.4:c.718C>T NP_005032.2:p.Arg240Cys NM_005041.4 missense_variant NM_005041.4:c.718C>T NP_005032.2:p.Arg240Cys PRF1 APC 5 112179233 G/T 0 NM_000038.5 missense_variant NM_000038.5:c.7942G>T NP_000029.2:p.Ala2648Ser NM_000038.5 missense_variant NM_000038.5:c.7942G>T NP_000029.2:p.Ala2648Ser APC TSC2 16 2134359 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.4136C>T NP_000539.2:p.Ser1379Leu NM_000548.3 missense_variant NM_000548.3:c.4136C>T NP_000539.2:p.Ser1379Leu TSC2 SLX4 16 3641060 G/A 0 NM_032444.2 missense_variant NM_032444.2:c.2579C>T NP_115820.2:p.Thr860Ile NM_032444.2 missense_variant NM_032444.2:c.2579C>T NP_115820.2:p.Thr860Ile SLX4 CDKN1C 11 2906703 A/G 0.02 NM_000076.2 missense_variant NM_000076.2:c.17T>C NP_000067.1:p.Leu6Pro NM_000076.2 missense_variant NM_000076.2:c.17T>C NP_000067.1:p.Leu6Pro CDKN1C MET 7 116339642 G/T 0.26 NM_001127500.1 missense_variant NM_001127500.1:c.504G>T NP_001120972.1:p.Glu168Asp NM_000245.2 missense_variant NM_000245.2:c.504G>T NP_000236.2:p.Glu168Asp MET FANCM 14 45645715 G/G 1.3 NM_020937.2 missense_variant NM_020937.2:c.3758A>G NP_065988.1:p.Asn1253Ser NM_020937.2 missense_variant NM_020937.2:c.3758A>G NP_065988.1:p.Asn1253Ser FANCM FANCM 14 45665661 G/G 0.86 NM_020937.2 missense_variant NM_020937.2:c.5627A>G NP_065988.1:p.Asn1876Ser NM_020937.2 missense_variant NM_020937.2:c.5627A>G NP_065988.1:p.Asn1876Ser FANCM MSH6 2 48028223 G/A 0.02 NM_000179.2 missense_variant NM_000179.2:c.3101G>A NP_000170.1:p.Arg1034Gln NM_000179.2 missense_variant NM_000179.2:c.3101G>A NP_000170.1:p.Arg1034Gln MSH6 BRCA1 17 41244465 C/T 0.08 NM_007300.3 missense_variant NM_007300.3:c.3083G>A NP_009231.2:p.Arg1028His NM_007294.3 missense_variant NM_007294.3:c.3083G>A NP_009225.1:p.Arg1028His BRCA1 ERCC2 19 45868404 G/A 0 NM_000400.3 missense_variant NM_000400.3:c.373C>T NP_000391.1:p.Arg125Cys NM_000400.3 missense_variant NM_000400.3:c.373C>T NP_000391.1:p.Arg125Cys ERCC2 SLX4 16 3640664 C/T 0.06 NM_032444.2 missense_variant NM_032444.2:c.2975G>A NP_115820.2:p.Gly992Glu NM_032444.2 missense_variant NM_032444.2:c.2975G>A NP_115820.2:p.Gly992Glu SLX4 FANCM 14 45642324 C/T 0 NM_020937.2 missense_variant NM_020937.2:c.2227C>T NP_065988.1:p.Pro743Ser NM_020937.2 missense_variant NM_020937.2:c.2227C>T NP_065988.1:p.Pro743Ser FANCM FANCI 15 89811713 A/G 0 NM_001113378.1 missense_variant NM_001113378.1:c.839A>G NP_001106849.1:p.Lys280Arg NM_001113378.1 missense_variant NM_001113378.1:c.839A>G NP_001106849.1:p.Lys280Arg FANCI BRCA1 17 41245026 C/T 0 NM_007300.3 missense_variant NM_007300.3:c.2522G>A NP_009231.2:p.Arg841Gln NM_007294.3 missense_variant NM_007294.3:c.2522G>A NP_009225.1:p.Arg841Gln BRCA1 BRCA2 13 32913066 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.4574A>G NP_000050.2:p.His1525Arg NM_000059.3 missense_variant NM_000059.3:c.4574A>G NP_000050.2:p.His1525Arg BRCA2 BIVM-ERCC5,ERCC5 13 103514608 G/A 0 NM_001204425.1 missense_variant NM_001204425.1:c.2471G>A NP_001191354.1:p.Arg824His NM_000123.3 missense_variant NM_000123.3:c.1109G>A NP_000114.2:p.Arg370His ERCC5 FANCD2 3 10102039 T/C 0 NM_033084.3 missense_variant NM_033084.3:c.1718T>C NP_149075.2:p.Ile573Thr NM_033084.3 missense_variant NM_033084.3:c.1718T>C NP_149075.2:p.Ile573Thr FANCD2 SLX4 16 3656601 G/C 0 NM_032444.2 missense_variant NM_032444.2:c.634C>G NP_115820.2:p.Arg212Gly NM_032444.2 missense_variant NM_032444.2:c.634C>G NP_115820.2:p.Arg212Gly SLX4 TSC2 16 2122860 C/G 0 NM_000548.3 missense_variant NM_000548.3:c.2231C>G NP_000539.2:p.Pro744Arg NM_000548.3 missense_variant NM_000548.3:c.2231C>G NP_000539.2:p.Pro744Arg TSC2 BRCA2 13 32920979 G/A 0 NM_000059.3 missense_variant NM_000059.3:c.6953G>A NP_000050.2:p.Arg2318Gln NM_000059.3 missense_variant NM_000059.3:c.6953G>A NP_000050.2:p.Arg2318Gln BRCA2 PMS2 7 6017320 C/T 0 NM_000535.5 missense_variant NM_000535.5:c.2344G>A NP_000526.1:p.Asp782Asn NM_000535.5 missense_variant NM_000535.5:c.2344G>A NP_000526.1:p.Asp782Asn PMS2 FANCI 15 89825002 C/G 0 NM_001113378.1 missense_variant NM_001113378.1:c.1519C>G NP_001106849.1:p.Leu507Val NM_001113378.1 missense_variant NM_001113378.1:c.1519C>G NP_001106849.1:p.Leu507Val FANCI SLX4 16 3633500 C/T 0.02 NM_032444.2 missense_variant NM_032444.2:c.4751G>A NP_115820.2:p.Arg1584His NM_032444.2 missense_variant NM_032444.2:c.4751G>A NP_115820.2:p.Arg1584His SLX4 BMPR1A 10 88635831 C/T 0 NM_004329.2 missense_variant NM_004329.2:c.56C>T NP_004320.2:p.Ser19Phe NM_004329.2 missense_variant NM_004329.2:c.56C>T NP_004320.2:p.Ser19Phe BMPR1A BIVM-ERCC5,ERCC5 13 103524687 G/A 0.08 NM_001204425.1 missense_variant NM_001204425.1:c.4180G>A NP_001191354.1:p.Val1394Met NM_000123.3 missense_variant NM_000123.3:c.2818G>A NP_000114.2:p.Val940Met ERCC5 CDH1 16 68863648 G/A 0 NM_004360.3 missense_variant NM_004360.3:c.2387G>A NP_004351.1:p.Arg796Gln NM_004360.3 missense_variant NM_004360.3:c.2387G>A NP_004351.1:p.Arg796Gln CDH1 TSC2 16 2110795 A/A 0.88 NM_000548.3 missense_variant NM_000548.3:c.1100G>A NP_000539.2:p.Arg367Gln NM_000548.3 missense_variant NM_000548.3:c.1100G>A NP_000539.2:p.Arg367Gln TSC2 PRF1 10 72360130 G/A 0 NM_005041.4 missense_variant NM_005041.4:c.529C>T NP_005032.2:p.Arg177Cys NM_005041.4 missense_variant NM_005041.4:c.529C>T NP_005032.2:p.Arg177Cys PRF1 FANCI 15 89828438 A/G 0 NM_001113378.1 missense_variant NM_001113378.1:c.1810A>G NP_001106849.1:p.Met604Val NM_001113378.1 missense_variant NM_001113378.1:c.1810A>G NP_001106849.1:p.Met604Val FANCI FANCB X 14861817 T/C 0 NM_152633.2 missense_variant NM_152633.2:c.2452A>G NP_689846.1:p.Arg818Gly NM_152633.2 missense_variant NM_152633.2:c.2452A>G NP_689846.1:p.Arg818Gly FANCB MET 7 116436095 C/T 0 NM_001127500.1 missense_variant NM_001127500.1:c.4144C>T NP_001120972.1:p.Pro1382Ser NM_000245.2 missense_variant NM_000245.2:c.4090C>T NP_000236.2:p.Pro1364Ser MET HNF1A 12 121434404 G/A 0 NM_000545.5 missense_variant NM_000545.5:c.1168G>A NP_000536.5:p.Glu390Lys NM_000545.5 missense_variant NM_000545.5:c.1168G>A NP_000536.5:p.Glu390Lys HNF1A FANCA 16 89869692 G/T 0 NM_000135.2 missense_variant NM_000135.2:c.767C>A NP_000126.2:p.Thr256Asn NM_000135.2 missense_variant NM_000135.2:c.767C>A NP_000126.2:p.Thr256Asn FANCA WRN 8 30958406 G/C 0 NM_000553.4 missense_variant NM_000553.4:c.2023G>C NP_000544.2:p.Glu675Gln NM_000553.4 missense_variant NM_000553.4:c.2023G>C NP_000544.2:p.Glu675Gln WRN MET 7 116380988 A/G 0 NM_001127500.1 missense_variant NM_001127500.1:c.1610A>G NP_001120972.1:p.Gln537Arg NM_000245.2 missense_variant NM_000245.2:c.1610A>G NP_000236.2:p.Gln537Arg MET WRN 8 30921843 T/C 0 NM_000553.4 missense_variant NM_000553.4:c.248T>C NP_000544.2:p.Met83Thr NM_000553.4 missense_variant NM_000553.4:c.248T>C NP_000544.2:p.Met83Thr WRN MSH6 2 48028273 G/A 0.1 NM_000179.2 missense_variant NM_000179.2:c.3151G>A NP_000170.1:p.Val1051Ile NM_000179.2 missense_variant NM_000179.2:c.3151G>A NP_000170.1:p.Val1051Ile MSH6 APC 5 112175865 T/G 0 NM_000038.5 missense_variant NM_000038.5:c.4574T>G NP_000029.2:p.Met1525Arg NM_000038.5 missense_variant NM_000038.5:c.4574T>G NP_000029.2:p.Met1525Arg APC PTCH1 9 98244424 T/C 0 NM_000264.3 missense_variant NM_000264.3:c.646A>G NP_000255.2:p.Met216Val NM_000264.3 missense_variant NM_000264.3:c.646A>G NP_000255.2:p.Met216Val PTCH1 ERCC2 19 45868133 C/T 0 NM_000400.3 missense_variant NM_000400.3:c.557G>A NP_000391.1:p.Arg186His NM_000400.3 missense_variant NM_000400.3:c.557G>A NP_000391.1:p.Arg186His ERCC2 FH 1 241675407 C/T 0 NM_000143.3 missense_variant NM_000143.3:c.415G>A NP_000134.2:p.Val139Met NM_000143.3 missense_variant NM_000143.3:c.415G>A NP_000134.2:p.Val139Met FH BRIP1 17 59761229 C/T 0 NM_032043.2 missense_variant NM_032043.2:c.3178G>A NP_114432.2:p.Val1060Ile NM_032043.2 missense_variant NM_032043.2:c.3178G>A NP_114432.2:p.Val1060Ile BRIP1 BRIP1 17 59760904 T/G 0 NM_032043.2 missense_variant NM_032043.2:c.3503A>C NP_114432.2:p.Lys1168Thr NM_032043.2 missense_variant NM_032043.2:c.3503A>C NP_114432.2:p.Lys1168Thr BRIP1 APC 5 112178822 C/T 0 NM_000038.5 missense_variant NM_000038.5:c.7531C>T NP_000029.2:p.Leu2511Phe NM_000038.5 missense_variant NM_000038.5:c.7531C>T NP_000029.2:p.Leu2511Phe APC TSC2 16 2110761 G/C 0 NM_000548.3 missense_variant NM_000548.3:c.1066G>C NP_000539.2:p.Val356Leu NM_000548.3 missense_variant NM_000548.3:c.1066G>C NP_000539.2:p.Val356Leu TSC2 HNF1A 12 121416600 C/T 0 NM_000545.5 missense_variant NM_000545.5:c.29C>T NP_000536.5:p.Thr10Met NM_000545.5 missense_variant NM_000545.5:c.29C>T NP_000536.5:p.Thr10Met HNF1A MET 7 116339543 C/A 0.02 NM_001127500.1 missense_variant NM_001127500.1:c.405C>A NP_001120972.1:p.Ser135Arg NM_000245.2 missense_variant NM_000245.2:c.405C>A NP_000236.2:p.Ser135Arg MET APC 5 112174802 C/T 0.02 NM_000038.5 missense_variant NM_000038.5:c.3511C>T NP_000029.2:p.Arg1171Cys NM_000038.5 missense_variant NM_000038.5:c.3511C>T NP_000029.2:p.Arg1171Cys APC MSH2 2 47702191 A/G 0 NM_000251.2 missense_variant NM_000251.2:c.1787A>G NP_000242.1:p.Asn596Ser NM_000251.2 missense_variant NM_000251.2:c.1787A>G NP_000242.1:p.Asn596Ser MSH2 PMS2 7 6038771 C/T 0 NM_000535.5 missense_variant NM_000535.5:c.673G>A NP_000526.1:p.Glu225Lys NM_000535.5 missense_variant NM_000535.5:c.673G>A NP_000526.1:p.Glu225Lys PMS2 NBN 8 90958519 T/C 0 NM_002485.4 missense_variant NM_002485.4:c.1919A>G NP_002476.2:p.Asn640Ser NM_002485.4 missense_variant NM_002485.4:c.1919A>G NP_002476.2:p.Asn640Ser NBN BRCA2 13 32911896 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.3404A>G NP_000050.2:p.Tyr1135Cys NM_000059.3 missense_variant NM_000059.3:c.3404A>G NP_000050.2:p.Tyr1135Cys BRCA2 MSH6 2 48010439 G/C 0 NM_000179.2 missense_variant NM_000179.2:c.67G>C NP_000170.1:p.Ala23Pro NM_000179.2 missense_variant NM_000179.2:c.67G>C NP_000170.1:p.Ala23Pro MSH6 NBN 8 90965563 T/C 0 NM_002485.4 missense_variant NM_002485.4:c.1754A>G NP_002476.2:p.Glu585Gly NM_002485.4 missense_variant NM_002485.4:c.1754A>G NP_002476.2:p.Glu585Gly NBN NBN 8 90993657 C/T 0 NM_002485.4 missense_variant NM_002485.4:c.266G>A NP_002476.2:p.Arg89Gln NM_002485.4 missense_variant NM_002485.4:c.266G>A NP_002476.2:p.Arg89Gln NBN MAX 14 65543336 T/C 0 NM_002382.4 missense_variant NM_002382.4:c.341A>G NP_002373.3:p.Asn114Ser NM_002382.4 missense_variant NM_002382.4:c.341A>G NP_002373.3:p.Asn114Ser MAX ERCC4 16 14042043 C/A 0 NM_005236.2 missense_variant NM_005236.2:c.2590C>A NP_005227.1:p.Arg864Ser NM_005236.2 missense_variant NM_005236.2:c.2590C>A NP_005227.1:p.Arg864Ser ERCC4 SMARCB1 22 24143261 C/A 0 NM_003073.3 missense_variant NM_003073.3:c.493C>A NP_003064.2:p.Pro165Thr NM_003073.3 missense_variant NM_003073.3:c.493C>A NP_003064.2:p.Pro165Thr SMARCB1 PMS2 7 6018230 T/G 0 NM_000535.5 missense_variant NM_000535.5:c.2272A>C NP_000526.1:p.Asn758His NM_000535.5 missense_variant NM_000535.5:c.2272A>C NP_000526.1:p.Asn758His PMS2 KIT 4 55561756 G/A 0.06 NM_000222.2 missense_variant NM_000222.2:c.146G>A NP_000213.1:p.Arg49His NM_000222.2 missense_variant NM_000222.2:c.146G>A NP_000213.1:p.Arg49His KIT NF1 17 29562948 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.3883A>G NP_001035957.1:p.Thr1295Ala NM_000267.3 missense_variant NM_000267.3:c.3883A>G NP_000258.1:p.Thr1295Ala NF1 BRIP1 17 59858253 C/T 0 NM_032043.2 missense_variant NM_032043.2:c.1742G>A NP_114432.2:p.Arg581Gln NM_032043.2 missense_variant NM_032043.2:c.1742G>A NP_114432.2:p.Arg581Gln BRIP1 TSC2 16 2124321 C/A 0.02 NM_000548.3 missense_variant NM_000548.3:c.2476C>A NP_000539.2:p.Leu826Met NM_000548.3 missense_variant NM_000548.3:c.2476C>A NP_000539.2:p.Leu826Met TSC2 MSH2 2 47643457 A/A 0.62 NM_000251.2 missense_variant NM_000251.2:c.965G>A NP_000242.1:p.Gly322Asp NM_000251.2 missense_variant NM_000251.2:c.965G>A NP_000242.1:p.Gly322Asp MSH2 FANCB X 14861834 T/C 0.05 NM_152633.2 missense_variant NM_152633.2:c.2435A>G NP_689846.1:p.Tyr812Cys NM_152633.2 missense_variant NM_152633.2:c.2435A>G NP_689846.1:p.Tyr812Cys FANCB BRCA1 17 41256150 T/A 0 NM_007300.3 missense_variant NM_007300.3:c.430A>T NP_009231.2:p.Asn144Tyr NM_007294.3 missense_variant NM_007294.3:c.430A>T NP_009225.1:p.Asn144Tyr BRCA1 MLH1 3 37089086 C/G 0 NM_000249.3 missense_variant NM_000249.3:c.1808C>G NP_000240.1:p.Pro603Arg NM_000249.3 missense_variant NM_000249.3:c.1808C>G NP_000240.1:p.Pro603Arg MLH1 BLM 15 91304155 T/C 0 NM_000057.2 missense_variant NM_000057.2:c.1552T>C NP_000048.1:p.Ser518Pro NM_000057.2 missense_variant NM_000057.2:c.1552T>C NP_000048.1:p.Ser518Pro BLM FANCF 11 22646909 C/G 0 NM_022725.3 missense_variant NM_022725.3:c.448G>C NP_073562.1:p.Gly150Arg NM_022725.3 missense_variant NM_022725.3:c.448G>C NP_073562.1:p.Gly150Arg FANCF MEN1 11 64577373 T/G 0 NM_130803.2 missense_variant NM_130803.2:c.209A>C NP_570715.1:p.Asp70Ala NM_130799.2 missense_variant NM_130799.2:c.209A>C NP_570711.1:p.Asp70Ala MEN1 BLM 15 91346808 G/C 0 NM_000057.2 missense_variant NM_000057.2:c.3416G>C NP_000048.1:p.Arg1139Pro NM_000057.2 missense_variant NM_000057.2:c.3416G>C NP_000048.1:p.Arg1139Pro BLM CDH1 16 68772240 C/G 0 NM_004360.3 missense_variant NM_004360.3:c.89C>G NP_004351.1:p.Pro30Arg NM_004360.3 missense_variant NM_004360.3:c.89C>G NP_004351.1:p.Pro30Arg CDH1 MSH6 2 48030646 C/T 0 NM_000179.2 missense_variant NM_000179.2:c.3260C>T NP_000170.1:p.Pro1087Leu NM_000179.2 missense_variant NM_000179.2:c.3260C>T NP_000170.1:p.Pro1087Leu MSH6 WRN 8 30938667 A/C 0 NM_000553.4 missense_variant NM_000553.4:c.1124A>C NP_000544.2:p.Glu375Ala NM_000553.4 missense_variant NM_000553.4:c.1124A>C NP_000544.2:p.Glu375Ala WRN BRCA2 13 32913947 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.5455C>T NP_000050.2:p.Pro1819Ser NM_000059.3 missense_variant NM_000059.3:c.5455C>T NP_000050.2:p.Pro1819Ser BRCA2 FANCA 16 89862422 C/T 0 NM_000135.2 missense_variant NM_000135.2:c.898G>A NP_000126.2:p.Gly300Arg NM_000135.2 missense_variant NM_000135.2:c.898G>A NP_000126.2:p.Gly300Arg FANCA BRCA2 13 32913077 G/A 0.06 NM_000059.3 missense_variant NM_000059.3:c.4585G>A NP_000050.2:p.Gly1529Arg NM_000059.3 missense_variant NM_000059.3:c.4585G>A NP_000050.2:p.Gly1529Arg BRCA2 PRF1 10 72358657 C/T 0 NM_005041.4 missense_variant NM_005041.4:c.820G>A NP_005032.2:p.Ala274Thr NM_005041.4 missense_variant NM_005041.4:c.820G>A NP_005032.2:p.Ala274Thr PRF1 TSC1 9 135781265 G/A 0.02 NM_000368.4 missense_variant NM_000368.4:c.1700C>T NP_000359.1:p.Ala567Val NM_000368.4 missense_variant NM_000368.4:c.1700C>T NP_000359.1:p.Ala567Val TSC1 RET 10 43601917 G/A 0 NM_020975.4 missense_variant NM_020975.4:c.961G>A NP_066124.1:p.Gly321Arg NM_020975.4 missense_variant NM_020975.4:c.961G>A NP_066124.1:p.Gly321Arg RET BRCA2 13 32912007 C/T 0.08 NM_000059.3 missense_variant NM_000059.3:c.3515C>T NP_000050.2:p.Ser1172Leu NM_000059.3 missense_variant NM_000059.3:c.3515C>T NP_000050.2:p.Ser1172Leu BRCA2 RECQL4 8 145743114 G/C 0 NM_004260.3 missense_variant NM_004260.3:c.55C>G NP_004251.3:p.Arg19Gly NM_004260.3 missense_variant NM_004260.3:c.55C>G NP_004251.3:p.Arg19Gly RECQL4 ATM 11 108143489 G/A 0 NM_000051.3 missense_variant NM_000051.3:c.3194G>A NP_000042.3:p.Gly1065Glu NM_000051.3 missense_variant NM_000051.3:c.3194G>A NP_000042.3:p.Gly1065Glu ATM PTCH1 9 98229688 A/G 0.12 NM_000264.3 missense_variant NM_000264.3:c.2270T>C NP_000255.2:p.Phe757Ser NM_000264.3 missense_variant NM_000264.3:c.2270T>C NP_000255.2:p.Phe757Ser PTCH1 PALB2 16 23646866 T/C 0 NM_024675.3 missense_variant NM_024675.3:c.1001A>G NP_078951.2:p.Tyr334Cys NM_024675.3 missense_variant NM_024675.3:c.1001A>G NP_078951.2:p.Tyr334Cys PALB2 MLH1 3 37090489 C/T 0 NM_000249.3 missense_variant NM_000249.3:c.2084C>T NP_000240.1:p.Ser695Leu NM_000249.3 missense_variant NM_000249.3:c.2084C>T NP_000240.1:p.Ser695Leu MLH1 ATM 11 108160396 A/C 0 NM_000051.3 missense_variant NM_000051.3:c.4304A>C NP_000042.3:p.Lys1435Thr NM_000051.3 missense_variant NM_000051.3:c.4304A>C NP_000042.3:p.Lys1435Thr ATM MSH6 2 48030699 G/A 0 NM_000179.2 missense_variant NM_000179.2:c.3313G>A NP_000170.1:p.Gly1105Arg NM_000179.2 missense_variant NM_000179.2:c.3313G>A NP_000170.1:p.Gly1105Arg MSH6 BRCA2 13 32913076 C/G 0.04 NM_000059.3 missense_variant NM_000059.3:c.4584C>G NP_000050.2:p.Ser1528Arg NM_000059.3 missense_variant NM_000059.3:c.4584C>G NP_000050.2:p.Ser1528Arg BRCA2 FANCA 16 89865598 G/T 0.02 NM_000135.2 missense_variant NM_000135.2:c.869C>A NP_000126.2:p.Ser290Tyr NM_000135.2 missense_variant NM_000135.2:c.869C>A NP_000126.2:p.Ser290Tyr FANCA ALK 2 29519842 G/T 0 NM_004304.4 missense_variant NM_004304.4:c.1729C>A NP_004295.2:p.Gln577Lys NM_004304.4 missense_variant NM_004304.4:c.1729C>A NP_004295.2:p.Gln577Lys ALK BIVM-ERCC5,ERCC5 13 103514736 G/A 0 NM_001204425.1 missense_variant NM_001204425.1:c.2599G>A NP_001191354.1:p.Gly867Arg NM_000123.3 missense_variant NM_000123.3:c.1237G>A NP_000114.2:p.Gly413Arg ERCC5 PMS1 2 190742047 A/G 0 NM_000534.4 missense_variant NM_000534.4:c.2684A>G NP_000525.1:p.Glu895Gly NM_000534.4 missense_variant NM_000534.4:c.2684A>G NP_000525.1:p.Glu895Gly PMS1 RET 10 43572726 G/C 0 NM_020975.4 missense_variant NM_020975.4:c.20G>C NP_066124.1:p.Gly7Ala NM_020975.4 missense_variant NM_020975.4:c.20G>C NP_066124.1:p.Gly7Ala RET FANCB X 14877436 T/A 0 NM_152633.2 missense_variant NM_152633.2:c.972A>T NP_689846.1:p.Lys324Asn NM_152633.2 missense_variant NM_152633.2:c.972A>T NP_689846.1:p.Lys324Asn FANCB PTCH1 9 98209648 C/T 0 NM_000264.3 missense_variant NM_000264.3:c.3890G>A NP_000255.2:p.Arg1297Gln NM_000264.3 missense_variant NM_000264.3:c.3890G>A NP_000255.2:p.Arg1297Gln PTCH1 BRCA1 17 41245932 G/A 0.02 NM_007300.3 missense_variant NM_007300.3:c.1616C>T NP_009231.2:p.Thr539Met NM_007294.3 missense_variant NM_007294.3:c.1616C>T NP_009225.1:p.Thr539Met BRCA1 CHEK2 22 29121077 T/C 0.04 NM_001005735.1 missense_variant NM_001005735.1:c.609A>G NP_001005735.1:p.Ile203Met NM_007194.3 missense_variant NM_007194.3:c.480A>G NP_009125.1:p.Ile160Met CHEK2 EXT1 8 118831965 G/A 0 NM_000127.2 missense_variant NM_000127.2:c.1486C>T NP_000118.2:p.Pro496Ser NM_000127.2 missense_variant NM_000127.2:c.1486C>T NP_000118.2:p.Pro496Ser EXT1 FANCA 16 89836654 C/A 0.04 NM_000135.2 missense_variant NM_000135.2:c.2236G>T NP_000126.2:p.Ala746Ser NM_000135.2 missense_variant NM_000135.2:c.2236G>T NP_000126.2:p.Ala746Ser FANCA PMS1 2 190742046 G/A 0 NM_000534.4 missense_variant NM_000534.4:c.2683G>A NP_000525.1:p.Glu895Lys NM_000534.4 missense_variant NM_000534.4:c.2683G>A NP_000525.1:p.Glu895Lys PMS1 NSD1 5 176721427 C/A 0 NM_022455.4 missense_variant NM_022455.4:c.7058C>A NP_071900.2:p.Pro2353His NM_022455.4 missense_variant NM_022455.4:c.7058C>A NP_071900.2:p.Pro2353His NSD1 AIP 11 67258445 G/A 0 NM_003977.2 missense_variant NM_003977.2:c.974G>A NP_003968.2:p.Arg325Gln NM_003977.2 missense_variant NM_003977.2:c.974G>A NP_003968.2:p.Arg325Gln AIP BUB1B 15 40477419 A/G 0.02 NM_001211.5 missense_variant NM_001211.5:c.805A>G NP_001202.4:p.Asn269Asp NM_001211.5 missense_variant NM_001211.5:c.805A>G NP_001202.4:p.Asn269Asp BUB1B APC 5 112174691 G/A 0 NM_000038.5 missense_variant NM_000038.5:c.3400G>A NP_000029.2:p.Asp1134Asn NM_000038.5 missense_variant NM_000038.5:c.3400G>A NP_000029.2:p.Asp1134Asn APC PALB2 16 23647146 T/C 0.24 NM_024675.3 missense_variant NM_024675.3:c.721A>G NP_078951.2:p.Asn241Asp NM_024675.3 missense_variant NM_024675.3:c.721A>G NP_078951.2:p.Asn241Asp PALB2 BRCA1 17 41244524 C/T 0.06 NM_007300.3 missense_variant NM_007300.3:c.3024G>A NP_009231.2:p.Met1008Ile NM_007294.3 missense_variant NM_007294.3:c.3024G>A NP_009225.1:p.Met1008Ile BRCA1 BIVM-ERCC5,ERCC5 13 103518999 C/A 0 NM_001204425.1 missense_variant NM_001204425.1:c.3699C>A NP_001191354.1:p.Phe1233Leu NM_000123.3 missense_variant NM_000123.3:c.2337C>A NP_000114.2:p.Phe779Leu ERCC5 BLM 15 91354612 C/T 0 NM_000057.2 missense_variant NM_000057.2:c.4052C>T NP_000048.1:p.Ala1351Val NM_000057.2 missense_variant NM_000057.2:c.4052C>T NP_000048.1:p.Ala1351Val BLM CDH1 16 68847351 G/A 0.04 NM_004360.3 missense_variant NM_004360.3:c.1273G>A NP_004351.1:p.Val425Ile NM_004360.3 missense_variant NM_004360.3:c.1273G>A NP_004351.1:p.Val425Ile CDH1 PALB2 16 23637693 T/C 0 NM_024675.3 missense_variant NM_024675.3:c.2612A>G NP_078951.2:p.Asp871Gly NM_024675.3 missense_variant NM_024675.3:c.2612A>G NP_078951.2:p.Asp871Gly PALB2 BRCA1 17 41245900 T/G 0.02 NM_007300.3 missense_variant NM_007300.3:c.1648A>C NP_009231.2:p.Asn550His NM_007294.3 missense_variant NM_007294.3:c.1648A>C NP_009225.1:p.Asn550His BRCA1 BRCA1 17 41246092 A/G 0.02 NM_007300.3 missense_variant NM_007300.3:c.1456T>C NP_009231.2:p.Phe486Leu NM_007294.3 missense_variant NM_007294.3:c.1456T>C NP_009225.1:p.Phe486Leu BRCA1 BRCA1 17 41251803 T/C 0.02 NM_007300.3 missense_variant NM_007300.3:c.536A>G NP_009231.2:p.Tyr179Cys NM_007294.3 missense_variant NM_007294.3:c.536A>G NP_009225.1:p.Tyr179Cys BRCA1 SLX4 16 3651147 C/A 0.02 NM_032444.2 missense_variant NM_032444.2:c.996G>T NP_115820.2:p.Gln332His NM_032444.2 missense_variant NM_032444.2:c.996G>T NP_115820.2:p.Gln332His SLX4 BLM 15 91326099 T/T 5.13 NM_000057.2 missense_variant NM_000057.2:c.2603C>T NP_000048.1:p.Pro868Leu NM_000057.2 missense_variant NM_000057.2:c.2603C>T NP_000048.1:p.Pro868Leu BLM BLM 15 91354521 A/A 6.71 NM_000057.2 missense_variant NM_000057.2:c.3961G>A NP_000048.1:p.Val1321Ile NM_000057.2 missense_variant NM_000057.2:c.3961G>A NP_000048.1:p.Val1321Ile BLM FANCB X 14861792 G/A 0 NM_152633.2 missense_variant NM_152633.2:c.2477C>T NP_689846.1:p.Thr826Met NM_152633.2 missense_variant NM_152633.2:c.2477C>T NP_689846.1:p.Thr826Met FANCB FANCG 9 35079445 T/C 0.52 NM_004629.1 missense_variant NM_004629.1:c.77A>G NP_004620.1:p.Gln26Arg NM_004629.1 missense_variant NM_004629.1:c.77A>G NP_004620.1:p.Gln26Arg FANCG BRIP1 17 59870998 T/C 0.34 NM_032043.2 missense_variant NM_032043.2:c.1433A>G NP_114432.2:p.His478Arg NM_032043.2 missense_variant NM_032043.2:c.1433A>G NP_114432.2:p.His478Arg BRIP1 MSH2 2 47656986 T/G 0 NM_000251.2 missense_variant NM_000251.2:c.1182T>G NP_000242.1:p.Phe394Leu NM_000251.2 missense_variant NM_000251.2:c.1182T>G NP_000242.1:p.Phe394Leu MSH2 BRCA2 13 32905084 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.710A>G NP_000050.2:p.Asp237Gly NM_000059.3 missense_variant NM_000059.3:c.710A>G NP_000050.2:p.Asp237Gly BRCA2 FANCI 15 89811698 T/C 0.04 NM_001113378.1 missense_variant NM_001113378.1:c.824T>C NP_001106849.1:p.Ile275Thr NM_001113378.1 missense_variant NM_001113378.1:c.824T>C NP_001106849.1:p.Ile275Thr FANCI MSH6 2 48027514 C/G 0 NM_000179.2 missense_variant NM_000179.2:c.2392C>G NP_000170.1:p.Leu798Val NM_000179.2 missense_variant NM_000179.2:c.2392C>G NP_000170.1:p.Leu798Val MSH6 TSC1 9 135787731 C/T 0 NM_000368.4 missense_variant NM_000368.4:c.851G>A NP_000359.1:p.Arg284His NM_000368.4 missense_variant NM_000368.4:c.851G>A NP_000359.1:p.Arg284His TSC1 ATM 11 108106435 A/G 0.14 NM_000051.3 missense_variant NM_000051.3:c.370A>G NP_000042.3:p.Ile124Val NM_000051.3 missense_variant NM_000051.3:c.370A>G NP_000042.3:p.Ile124Val ATM ATM 11 108159732 C/T 3.19 NM_000051.3 missense_variant NM_000051.3:c.4138C>T NP_000042.3:p.His1380Tyr NM_000051.3 missense_variant NM_000051.3:c.4138C>T NP_000042.3:p.His1380Tyr ATM FANCM 14 45665613 G/A 0 NM_020937.2 missense_variant NM_020937.2:c.5579G>A NP_065988.1:p.Arg1860His NM_020937.2 missense_variant NM_020937.2:c.5579G>A NP_065988.1:p.Arg1860His FANCM WRN 8 30925817 C/T 0 NM_000553.4 missense_variant NM_000553.4:c.698C>T NP_000544.2:p.Thr233Ile NM_000553.4 missense_variant NM_000553.4:c.698C>T NP_000544.2:p.Thr233Ile WRN ATM 11 108117732 T/G 0 NM_000051.3 missense_variant NM_000051.3:c.943T>G NP_000042.3:p.Leu315Val NM_000051.3 missense_variant NM_000051.3:c.943T>G NP_000042.3:p.Leu315Val ATM MSH2 2 47643544 T/C 0 NM_000251.2 missense_variant NM_000251.2:c.1052T>C NP_000242.1:p.Met351Thr NM_000251.2 missense_variant NM_000251.2:c.1052T>C NP_000242.1:p.Met351Thr MSH2 FANCA 16 89874749 C/A 0 NM_000135.2 missense_variant NM_000135.2:c.549G>T NP_000126.2:p.Trp183Cys NM_000135.2 missense_variant NM_000135.2:c.549G>T NP_000126.2:p.Trp183Cys FANCA PMS2 7 6026397 C/T 0 NM_000535.5 missense_variant NM_000535.5:c.1999G>A NP_000526.1:p.Glu667Lys NM_000535.5 missense_variant NM_000535.5:c.1999G>A NP_000526.1:p.Glu667Lys PMS2 ATM,C11ORF65 11 108196143 C/T 0 NM_000051.3 missense_variant NM_000051.3:c.6679C>T NP_000042.3:p.Arg2227Cys NM_000051.3 missense_variant NM_000051.3:c.6679C>T NP_000042.3:p.Arg2227Cys ATM ERCC4 16 14016047 A/G 0 NM_005236.2 missense_variant NM_005236.2:c.367A>G NP_005227.1:p.Ile123Val NM_005236.2 missense_variant NM_005236.2:c.367A>G NP_005227.1:p.Ile123Val ERCC4 PMS1 2 190660550 C/G 0 NM_000534.4 missense_variant NM_000534.4:c.188C>G NP_000525.1:p.Ala63Gly NM_000534.4 missense_variant NM_000534.4:c.188C>G NP_000525.1:p.Ala63Gly PMS1 PMS1 2 190708712 A/A 0.8 NM_000534.4 missense_variant NM_000534.4:c.605G>A NP_000525.1:p.Arg202Lys NM_000534.4 missense_variant NM_000534.4:c.605G>A NP_000525.1:p.Arg202Lys PMS1 FANCE 6 35430686 A/A 18.95 NM_021922.2 missense_variant NM_021922.2:c.1504G>A NP_068741.1:p.Ala502Thr NM_021922.2 missense_variant NM_021922.2:c.1504G>A NP_068741.1:p.Ala502Thr FANCE ERCC4 16 14038592 C/A 0 NM_005236.2 missense_variant NM_005236.2:c.1917C>A NP_005227.1:p.Ser639Arg NM_005236.2 missense_variant NM_005236.2:c.1917C>A NP_005227.1:p.Ser639Arg ERCC4 XPC 3 14199602 C/T 0.04 NM_004628.4 missense_variant NM_004628.4:c.1781G>A NP_004619.3:p.Arg594His NM_004628.4 missense_variant NM_004628.4:c.1781G>A NP_004619.3:p.Arg594His XPC PMS2 7 6017308 G/T 0.18 NM_000535.5 missense_variant NM_000535.5:c.2356C>A NP_000526.1:p.Leu786Met NM_000535.5 missense_variant NM_000535.5:c.2356C>A NP_000526.1:p.Leu786Met PMS2 DIS3L2 2 233164817 G/A 0.02 NM_152383.4 missense_variant NM_152383.4:c.1727G>A NP_689596.4:p.Arg576His NM_152383.4 missense_variant NM_152383.4:c.1727G>A NP_689596.4:p.Arg576His DIS3L2 RB1 13 48916837 A/G 0 NM_000321.2 missense_variant NM_000321.2:c.367A>G NP_000312.2:p.Asn123Asp NM_000321.2 missense_variant NM_000321.2:c.367A>G NP_000312.2:p.Asn123Asp RB1 FANCM 14 45628478 C/G 0 NM_020937.2 missense_variant NM_020937.2:c.1576C>G NP_065988.1:p.Leu526Val NM_020937.2 missense_variant NM_020937.2:c.1576C>G NP_065988.1:p.Leu526Val FANCM BLM 15 91303832 T/C 0 NM_000057.2 missense_variant NM_000057.2:c.1229T>C NP_000048.1:p.Leu410Pro NM_000057.2 missense_variant NM_000057.2:c.1229T>C NP_000048.1:p.Leu410Pro BLM ERCC4 16 14029588 G/A 0 NM_005236.2 missense_variant NM_005236.2:c.1799G>A NP_005227.1:p.Gly600Glu NM_005236.2 missense_variant NM_005236.2:c.1799G>A NP_005227.1:p.Gly600Glu ERCC4 BRCA2 13 32893223 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.77C>T NP_000050.2:p.Pro26Leu NM_000059.3 missense_variant NM_000059.3:c.77C>T NP_000050.2:p.Pro26Leu BRCA2 PALB2 16 23646459 T/C 0.02 NM_024675.3 missense_variant NM_024675.3:c.1408A>G NP_078951.2:p.Thr470Ala NM_024675.3 missense_variant NM_024675.3:c.1408A>G NP_078951.2:p.Thr470Ala PALB2 BLM 15 91293113 G/T 0.56 NM_000057.2 missense_variant NM_000057.2:c.615G>T NP_000048.1:p.Lys205Asn NM_000057.2 missense_variant NM_000057.2:c.615G>T NP_000048.1:p.Lys205Asn BLM RUNX1 21 36164862 G/A 0 NM_001754.4 missense_variant NM_001754.4:c.1013C>T NP_001745.2:p.Ala338Val NM_001754.4 missense_variant NM_001754.4:c.1013C>T NP_001745.2:p.Ala338Val RUNX1 PMS2 7 6026679 T/A 0.04 NM_000535.5 missense_variant NM_000535.5:c.1717A>T NP_000526.1:p.Thr573Ser NM_000535.5 missense_variant NM_000535.5:c.1717A>T NP_000526.1:p.Thr573Ser PMS2 FANCB X 14883079 C/A 0 NM_152633.2 missense_variant NM_152633.2:c.554G>T NP_689846.1:p.Gly185Val NM_152633.2 missense_variant NM_152633.2:c.554G>T NP_689846.1:p.Gly185Val FANCB FANCG 9 35079502 A/A 0.3 NM_004629.1 missense_variant NM_004629.1:c.20C>T NP_004620.1:p.Ser7Phe NM_004629.1 missense_variant NM_004629.1:c.20C>T NP_004620.1:p.Ser7Phe FANCG NF1 17 29585430 C/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.4242C>G NP_001035957.1:p.Ile1414Met NM_000267.3 missense_variant NM_000267.3:c.4179C>G NP_000258.1:p.Ile1393Met NF1 FANCI 15 89837162 C/T 0 NM_001113378.1 missense_variant NM_001113378.1:c.2390C>T NP_001106849.1:p.Ala797Val NM_001113378.1 missense_variant NM_001113378.1:c.2390C>T NP_001106849.1:p.Ala797Val FANCI NF1 17 29556250 C/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.2617C>T NP_001035957.1:p.Arg873Cys NM_000267.3 missense_variant NM_000267.3:c.2617C>T NP_000258.1:p.Arg873Cys NF1 AIP 11 67250655 G/A 0.02 NM_003977.2 missense_variant NM_003977.2:c.26G>A NP_003968.2:p.Arg9Gln NM_003977.2 missense_variant NM_003977.2:c.26G>A NP_003968.2:p.Arg9Gln AIP FH 1 241682982 A/G 0 NM_000143.3 missense_variant NM_000143.3:c.41T>C NP_000134.2:p.Leu14Pro NM_000143.3 missense_variant NM_000143.3:c.41T>C NP_000134.2:p.Leu14Pro FH NSD1 5 176638900 G/A 0 NM_022455.4 missense_variant NM_022455.4:c.3500G>A NP_071900.2:p.Arg1167His NM_022455.4 missense_variant NM_022455.4:c.3500G>A NP_071900.2:p.Arg1167His NSD1 FANCC 9 97933373 T/C 0 NM_000136.2 missense_variant NM_000136.2:c.509A>G NP_000127.2:p.Asn170Ser NM_000136.2 missense_variant NM_000136.2:c.509A>G NP_000127.2:p.Asn170Ser FANCC BRCA2 13 32914811 C/G 0 NM_000059.3 missense_variant NM_000059.3:c.6319C>G NP_000050.2:p.Pro2107Ala NM_000059.3 missense_variant NM_000059.3:c.6319C>G NP_000050.2:p.Pro2107Ala BRCA2 DICER1 14 95566155 C/G 0 NM_177438.2 missense_variant NM_177438.2:c.4168G>C NP_803187.1:p.Asp1390His NM_177438.2 missense_variant NM_177438.2:c.4168G>C NP_803187.1:p.Asp1390His DICER1 RET 10 43601969 C/T 0 NM_020975.4 missense_variant NM_020975.4:c.1013C>T NP_066124.1:p.Thr338Ile NM_020975.4 missense_variant NM_020975.4:c.1013C>T NP_066124.1:p.Thr338Ile RET BRCA2 13 32910537 T/A 0 NM_000059.3 missense_variant NM_000059.3:c.2045T>A NP_000050.2:p.Ile682Asn NM_000059.3 missense_variant NM_000059.3:c.2045T>A NP_000050.2:p.Ile682Asn BRCA2 MSH2 2 47637507 G/T 0 NM_000251.2 missense_variant NM_000251.2:c.641G>T NP_000242.1:p.Arg214Ile NM_000251.2 missense_variant NM_000251.2:c.641G>T NP_000242.1:p.Arg214Ile MSH2 FANCD2 3 10074646 G/C 0.98 NM_033084.3 missense_variant NM_033084.3:c.195G>C NP_149075.2:p.Gln65His NM_033084.3 missense_variant NM_033084.3:c.195G>C NP_149075.2:p.Gln65His FANCD2 FANCD2,FANCD2OS 3 10128898 T/C 0 NM_033084.3 missense_variant NM_033084.3:c.3416T>C NP_149075.2:p.Met1139Thr NM_033084.3 missense_variant NM_033084.3:c.3416T>C NP_149075.2:p.Met1139Thr FANCD2 XPC 3 14214409 T/C 0 NM_004628.4 missense_variant NM_004628.4:c.257A>G NP_004619.3:p.Lys86Arg NM_004628.4 missense_variant NM_004628.4:c.257A>G NP_004619.3:p.Lys86Arg XPC PALB2 16 23641388 G/A 0 NM_024675.3 missense_variant NM_024675.3:c.2087C>T NP_078951.2:p.Thr696Met NM_024675.3 missense_variant NM_024675.3:c.2087C>T NP_078951.2:p.Thr696Met PALB2 DIS3L2 2 232879671 T/T 8.94 NM_152383.4 missense_variant NM_152383.4:c.34C>T NP_689596.4:p.Pro12Ser NM_152383.4 missense_variant NM_152383.4:c.34C>T NP_689596.4:p.Pro12Ser DIS3L2 FANCI 15 89858583 T/C 0 NM_001113378.1 missense_variant NM_001113378.1:c.3887T>C NP_001106849.1:p.Met1296Thr NM_001113378.1 missense_variant NM_001113378.1:c.3887T>C NP_001106849.1:p.Met1296Thr FANCI PMS1 2 190719682 G/C 0.04 NM_000534.4 missense_variant NM_000534.4:c.1684G>C NP_000525.1:p.Ala562Pro NM_000534.4 missense_variant NM_000534.4:c.1684G>C NP_000525.1:p.Ala562Pro PMS1 FANCB X 14883241 T/C 0 NM_152633.2 missense_variant NM_152633.2:c.392A>G NP_689846.1:p.Lys131Arg NM_152633.2 missense_variant NM_152633.2:c.392A>G NP_689846.1:p.Lys131Arg FANCB BLM 15 91292901 G/T 0 NM_000057.2 missense_variant NM_000057.2:c.403G>T NP_000048.1:p.Ala135Ser NM_000057.2 missense_variant NM_000057.2:c.403G>T NP_000048.1:p.Ala135Ser BLM EXT2 11 44254000 C/T 0 NM_000401.3 missense_variant NM_000401.3:c.1859C>T NP_000392.3:p.Thr620Met NM_207122.1 missense_variant NM_207122.1:c.1760C>T NP_997005.1:p.Thr587Met EXT2 NF2 22 30077523 C/T 0 NM_000268.3 missense_variant NM_000268.3:c.1670C>T NP_000259.1:p.Ala557Val NM_000268.3 missense_variant NM_000268.3:c.1670C>T NP_000259.1:p.Ala557Val NF2 MET 7 116339952 C/G 0 NM_001127500.1 missense_variant NM_001127500.1:c.814C>G NP_001120972.1:p.Gln272Glu NM_000245.2 missense_variant NM_000245.2:c.814C>G NP_000236.2:p.Gln272Glu MET FANCE 6 35420551 C/A 0 NM_021922.2 missense_variant NM_021922.2:c.229C>A NP_068741.1:p.Pro77Thr NM_021922.2 missense_variant NM_021922.2:c.229C>A NP_068741.1:p.Pro77Thr FANCE MSH6 2 48032823 C/A 0 NM_000179.2 missense_variant NM_000179.2:c.3623C>A NP_000170.1:p.Ser1208Tyr NM_000179.2 missense_variant NM_000179.2:c.3623C>A NP_000170.1:p.Ser1208Tyr MSH6 PMS2 7 6026685 G/T 0.56 NM_000535.5 missense_variant NM_000535.5:c.1711C>A NP_000526.1:p.Leu571Ile NM_000535.5 missense_variant NM_000535.5:c.1711C>A NP_000526.1:p.Leu571Ile PMS2 MSH6 2 48026006 A/G 0 NM_000179.2 missense_variant NM_000179.2:c.884A>G NP_000170.1:p.Lys295Arg NM_000179.2 missense_variant NM_000179.2:c.884A>G NP_000170.1:p.Lys295Arg MSH6 PTCH1 9 98211548 T/G 0 NM_000264.3 missense_variant NM_000264.3:c.3607A>C NP_000255.2:p.Ser1203Arg NM_000264.3 missense_variant NM_000264.3:c.3607A>C NP_000255.2:p.Ser1203Arg PTCH1 KIT 4 55561758 G/T 0 NM_000222.2 missense_variant NM_000222.2:c.148G>T NP_000213.1:p.Val50Leu NM_000222.2 missense_variant NM_000222.2:c.148G>T NP_000213.1:p.Val50Leu KIT BRCA2 13 32914592 C/T 0.14 NM_000059.3 missense_variant NM_000059.3:c.6100C>T NP_000050.2:p.Arg2034Cys NM_000059.3 missense_variant NM_000059.3:c.6100C>T NP_000050.2:p.Arg2034Cys BRCA2 TSC2 16 2130181 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.3413G>A NP_000539.2:p.Arg1138Gln NM_000548.3 missense_variant NM_000548.3:c.3413G>A NP_000539.2:p.Arg1138Gln TSC2 MET 7 116371741 C/T 0 NM_001127500.1 missense_variant NM_001127500.1:c.1220C>T NP_001120972.1:p.Ser407Leu NM_000245.2 missense_variant NM_000245.2:c.1220C>T NP_000236.2:p.Ser407Leu MET FANCI 15 89844659 C/T 0.02 NM_001113378.1 missense_variant NM_001113378.1:c.2992C>T NP_001106849.1:p.Pro998Ser NM_001113378.1 missense_variant NM_001113378.1:c.2992C>T NP_001106849.1:p.Pro998Ser FANCI APC 5 112175634 C/T 0 NM_000038.5 missense_variant NM_000038.5:c.4343C>T NP_000029.2:p.Thr1448Ile NM_000038.5 missense_variant NM_000038.5:c.4343C>T NP_000029.2:p.Thr1448Ile APC SLX4 16 3652236 C/T 0.04 NM_032444.2 missense_variant NM_032444.2:c.833G>A NP_115820.2:p.Arg278Gln NM_032444.2 missense_variant NM_032444.2:c.833G>A NP_115820.2:p.Arg278Gln SLX4 TSC2 16 2134290 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.4067G>A NP_000539.2:p.Gly1356Asp NM_000548.3 missense_variant NM_000548.3:c.4067G>A NP_000539.2:p.Gly1356Asp TSC2 SDHB 1 17349221 T/C 0 NM_003000.2 missense_variant NM_003000.2:c.647A>G NP_002991.2:p.Tyr216Cys NM_003000.2 missense_variant NM_003000.2:c.647A>G NP_002991.2:p.Tyr216Cys SDHB DIS3L2 2 233198597 C/G 0 NM_152383.4 missense_variant NM_152383.4:c.2058C>G NP_689596.4:p.Phe686Leu NM_152383.4 missense_variant NM_152383.4:c.2058C>G NP_689596.4:p.Phe686Leu DIS3L2 EPCAM 2 47604176 T/T 1.42 NM_002354.2 missense_variant NM_002354.2:c.515C>T NP_002345.2:p.Thr172Met NM_002354.2 missense_variant NM_002354.2:c.515C>T NP_002345.2:p.Thr172Met EPCAM BRCA2 13 32900252 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.440A>G NP_000050.2:p.Gln147Arg NM_000059.3 missense_variant NM_000059.3:c.440A>G NP_000050.2:p.Gln147Arg BRCA2 FANCA 16 89813288 C/G 0 NM_000135.2 missense_variant NM_000135.2:c.3359G>C NP_000126.2:p.Cys1120Ser NM_000135.2 missense_variant NM_000135.2:c.3359G>C NP_000126.2:p.Cys1120Ser FANCA DDB2 11 47256162 G/A 0 NM_000107.2 missense_variant NM_000107.2:c.641G>A NP_000098.1:p.Arg214Gln NM_000107.2 missense_variant NM_000107.2:c.641G>A NP_000098.1:p.Arg214Gln DDB2 BLM 15 91354509 G/A 0 NM_000057.2 missense_variant NM_000057.2:c.3949G>A NP_000048.1:p.Glu1317Lys NM_000057.2 missense_variant NM_000057.2:c.3949G>A NP_000048.1:p.Glu1317Lys BLM FANCM 14 45645364 T/C 0 NM_020937.2 missense_variant NM_020937.2:c.3407T>C NP_065988.1:p.Leu1136Ser NM_020937.2 missense_variant NM_020937.2:c.3407T>C NP_065988.1:p.Leu1136Ser FANCM BUB1B 15 40502367 T/C 0 NM_001211.5 missense_variant NM_001211.5:c.2341T>C NP_001202.4:p.Phe781Leu NM_001211.5 missense_variant NM_001211.5:c.2341T>C NP_001202.4:p.Phe781Leu BUB1B EGFR 7 55268044 C/T 0 NM_005228.3 missense_variant NM_005228.3:c.2884C>T NP_005219.2:p.Arg962Cys NM_005228.3 missense_variant NM_005228.3:c.2884C>T NP_005219.2:p.Arg962Cys EGFR FANCM 14 45644860 A/G 0 NM_020937.2 missense_variant NM_020937.2:c.2903A>G NP_065988.1:p.Tyr968Cys NM_020937.2 missense_variant NM_020937.2:c.2903A>G NP_065988.1:p.Tyr968Cys FANCM NSD1 5 176721726 G/C 0 NM_022455.4 missense_variant NM_022455.4:c.7357G>C NP_071900.2:p.Ala2453Pro NM_022455.4 missense_variant NM_022455.4:c.7357G>C NP_071900.2:p.Ala2453Pro NSD1 NSD1 5 176631216 G/C 0 NM_022455.4 missense_variant NM_022455.4:c.1159G>C NP_071900.2:p.Glu387Gln NM_022455.4 missense_variant NM_022455.4:c.1159G>C NP_071900.2:p.Glu387Gln NSD1 DICER1 14 95562845 G/A 0 NM_177438.2 missense_variant NM_177438.2:c.4412C>T NP_803187.1:p.Pro1471Leu NM_177438.2 missense_variant NM_177438.2:c.4412C>T NP_803187.1:p.Pro1471Leu DICER1 BMPR1A 10 88659852 A/G 0 NM_004329.2 missense_variant NM_004329.2:c.499A>G NP_004320.2:p.Met167Val NM_004329.2 missense_variant NM_004329.2:c.499A>G NP_004320.2:p.Met167Val BMPR1A SLX4 16 3658895 G/A 0 NM_032444.2 missense_variant NM_032444.2:c.71C>T NP_115820.2:p.Pro24Leu NM_032444.2 missense_variant NM_032444.2:c.71C>T NP_115820.2:p.Pro24Leu SLX4 NF1 17 29483074 A/G 0 NM_001042492.2 missense_variant NM_001042492.2:c.134A>G NP_001035957.1:p.Asn45Ser NM_000267.3 missense_variant NM_000267.3:c.134A>G NP_000258.1:p.Asn45Ser NF1 KIT 4 55569954 C/T 0.02 NM_000222.2 missense_variant NM_000222.2:c.821C>T NP_000213.1:p.Thr274Met NM_000222.2 missense_variant NM_000222.2:c.821C>T NP_000213.1:p.Thr274Met KIT DDB2 11 47236746 G/A 0 NM_000107.2 missense_variant NM_000107.2:c.59G>A NP_000098.1:p.Arg20Lys NM_000107.2 missense_variant NM_000107.2:c.59G>A NP_000098.1:p.Arg20Lys DDB2 PALB2 16 23647053 C/T 0 NM_024675.3 missense_variant NM_024675.3:c.814G>A NP_078951.2:p.Glu272Lys NM_024675.3 missense_variant NM_024675.3:c.814G>A NP_078951.2:p.Glu272Lys PALB2 ATM 11 108124647 T/C 0 NM_000051.3 missense_variant NM_000051.3:c.2005T>C NP_000042.3:p.Cys669Arg NM_000051.3 missense_variant NM_000051.3:c.2005T>C NP_000042.3:p.Cys669Arg ATM FANCE 6 35427195 G/A 0 NM_021922.2 missense_variant NM_021922.2:c.1201G>A NP_068741.1:p.Ala401Thr NM_021922.2 missense_variant NM_021922.2:c.1201G>A NP_068741.1:p.Ala401Thr FANCE CDH1 16 68862139 C/A 0 NM_004360.3 missense_variant NM_004360.3:c.2227C>A NP_004351.1:p.Pro743Thr NM_004360.3 missense_variant NM_004360.3:c.2227C>A NP_004351.1:p.Pro743Thr CDH1 BRCA2 13 32906415 G/A 0 NM_000059.3 missense_variant NM_000059.3:c.800G>A NP_000050.2:p.Gly267Glu NM_000059.3 missense_variant NM_000059.3:c.800G>A NP_000050.2:p.Gly267Glu BRCA2 BRIP1 17 59821814 T/C 0.42 NM_032043.2 missense_variant NM_032043.2:c.2236A>G NP_114432.2:p.Ile746Val NM_032043.2 missense_variant NM_032043.2:c.2236A>G NP_114432.2:p.Ile746Val BRIP1 ALK 2 29446229 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.3338G>A NP_004295.2:p.Arg1113Gln NM_004304.4 missense_variant NM_004304.4:c.3338G>A NP_004295.2:p.Arg1113Gln ALK KIT 4 55595506 A/C 0 NM_000222.2 missense_variant NM_000222.2:c.1996A>C NP_000213.1:p.Thr666Pro NM_000222.2 missense_variant NM_000222.2:c.1996A>C NP_000213.1:p.Thr666Pro KIT NSD1 5 176638222 G/A 0.02 NM_022455.4 missense_variant NM_022455.4:c.2822G>A NP_071900.2:p.Arg941His NM_022455.4 missense_variant NM_022455.4:c.2822G>A NP_071900.2:p.Arg941His NSD1 NSD1 5 176638686 C/T 0.02 NM_022455.4 missense_variant NM_022455.4:c.3286C>T NP_071900.2:p.His1096Tyr NM_022455.4 missense_variant NM_022455.4:c.3286C>T NP_071900.2:p.His1096Tyr NSD1 BRCA2 13 32945129 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.8524C>T NP_000050.2:p.Arg2842Cys NM_000059.3 missense_variant NM_000059.3:c.8524C>T NP_000050.2:p.Arg2842Cys BRCA2 ERCC4 16 14020561 G/T 0.02 NM_005236.2 missense_variant NM_005236.2:c.532G>T NP_005227.1:p.Val178Leu NM_005236.2 missense_variant NM_005236.2:c.532G>T NP_005227.1:p.Val178Leu ERCC4 PTCH1 9 98231373 G/A 0 NM_000264.3 missense_variant NM_000264.3:c.1910C>T NP_000255.2:p.Thr637Ile NM_000264.3 missense_variant NM_000264.3:c.1910C>T NP_000255.2:p.Thr637Ile PTCH1 CEP57 11 95555086 C/T 0 NM_014679.4 missense_variant NM_014679.4:c.751C>T NP_055494.2:p.Pro251Ser NM_014679.4 missense_variant NM_014679.4:c.751C>T NP_055494.2:p.Pro251Ser CEP57 BRCA2 13 32911025 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.2533C>T NP_000050.2:p.Pro845Ser NM_000059.3 missense_variant NM_000059.3:c.2533C>T NP_000050.2:p.Pro845Ser BRCA2 BLM 15 91295116 T/C 0 NM_000057.2 missense_variant NM_000057.2:c.899T>C NP_000048.1:p.Phe300Ser NM_000057.2 missense_variant NM_000057.2:c.899T>C NP_000048.1:p.Phe300Ser BLM BRIP1 17 59885949 G/A 0.02 NM_032043.2 missense_variant NM_032043.2:c.797C>T NP_114432.2:p.Thr266Met NM_032043.2 missense_variant NM_032043.2:c.797C>T NP_114432.2:p.Thr266Met BRIP1 MLH1 3 37090407 G/A 0 NM_000249.3 missense_variant NM_000249.3:c.2002G>A NP_000240.1:p.Glu668Lys NM_000249.3 missense_variant NM_000249.3:c.2002G>A NP_000240.1:p.Glu668Lys MLH1 ATM,C11ORF65 11 108198394 C/A 0 NM_000051.3 missense_variant NM_000051.3:c.6998C>A NP_000042.3:p.Thr2333Lys NM_000051.3 missense_variant NM_000051.3:c.6998C>A NP_000042.3:p.Thr2333Lys ATM CYLD 16 50813626 C/T 0.02 NM_015247.2 missense_variant NM_015247.2:c.1189C>T NP_056062.1:p.Arg397Cys NM_001042412.1 missense_variant NM_001042412.1:c.1180C>T NP_001035877.1:p.Arg394Cys CYLD MLH1 3 37053550 G/A 0.92 NM_000249.3 missense_variant NM_000249.3:c.637G>A NP_000240.1:p.Val213Met NM_000249.3 missense_variant NM_000249.3:c.637G>A NP_000240.1:p.Val213Met MLH1 CHEK2 22 29121016 G/A 0 NM_001005735.1 missense_variant NM_001005735.1:c.670C>T NP_001005735.1:p.Arg224Cys NM_007194.3 missense_variant NM_007194.3:c.541C>T NP_009125.1:p.Arg181Cys CHEK2 EXT1 8 119123164 C/G 0.02 NM_000127.2 missense_variant NM_000127.2:c.122G>C NP_000118.2:p.Ser41Thr NM_000127.2 missense_variant NM_000127.2:c.122G>C NP_000118.2:p.Ser41Thr EXT1 TSC2 16 2120487 G/A 0.08 NM_000548.3 missense_variant NM_000548.3:c.1747G>A NP_000539.2:p.Ala583Thr NM_000548.3 missense_variant NM_000548.3:c.1747G>A NP_000539.2:p.Ala583Thr TSC2 XPC 3 14214475 C/G 0.02 NM_004628.4 missense_variant NM_004628.4:c.191G>C NP_004619.3:p.Gly64Ala NM_004628.4 missense_variant NM_004628.4:c.191G>C NP_004619.3:p.Gly64Ala XPC RECQL4 8 145741641 C/T 0 NM_004260.3 missense_variant NM_004260.3:c.862G>A NP_004251.3:p.Gly288Arg NM_004260.3 missense_variant NM_004260.3:c.862G>A NP_004251.3:p.Gly288Arg RECQL4 CDH1 16 68844124 A/C 0 NM_004360.3 missense_variant NM_004360.3:c.712A>C NP_004351.1:p.Asn238His NM_004360.3 missense_variant NM_004360.3:c.712A>C NP_004351.1:p.Asn238His CDH1 CDKN1C 11 2906374 T/C 0 NM_000076.2 missense_variant NM_000076.2:c.346A>G NP_000067.1:p.Ser116Gly NM_000076.2 missense_variant NM_000076.2:c.346A>G NP_000067.1:p.Ser116Gly CDKN1C ATM,C11ORF65 11 108236086 C/T 0 NM_000051.3 missense_variant NM_000051.3:c.9022C>T NP_000042.3:p.Arg3008Cys NM_000051.3 missense_variant NM_000051.3:c.9022C>T NP_000042.3:p.Arg3008Cys ATM APC 5 112175342 G/A 0 NM_000038.5 missense_variant NM_000038.5:c.4051G>A NP_000029.2:p.Ala1351Thr NM_000038.5 missense_variant NM_000038.5:c.4051G>A NP_000029.2:p.Ala1351Thr APC RECQL4 8 145742112 C/G 0.02 NM_004260.3 missense_variant NM_004260.3:c.391G>C NP_004251.3:p.Gly131Arg NM_004260.3 missense_variant NM_004260.3:c.391G>C NP_004251.3:p.Gly131Arg RECQL4 BIVM-ERCC5,ERCC5 13 103514053 T/A 0 NM_001204425.1 missense_variant NM_001204425.1:c.2231T>A NP_001191354.1:p.Ile744Asn NM_000123.3 missense_variant NM_000123.3:c.869T>A NP_000114.2:p.Ile290Asn ERCC5 NF1 17 29556251 G/A 0 NM_001042492.2 missense_variant NM_001042492.2:c.2618G>A NP_001035957.1:p.Arg873His NM_000267.3 missense_variant NM_000267.3:c.2618G>A NP_000258.1:p.Arg873His NF1 RHBDF2 17 74475241 G/A 0 NM_024599.5 missense_variant NM_024599.5:c.478C>T NP_078875.4:p.Arg160Cys NM_001005498.3 missense_variant NM_001005498.3:c.391C>T NP_001005498.2:p.Arg131Cys RHBDF2 STK11 19 1223055 G/A 0 NM_000455.4 missense_variant NM_000455.4:c.992G>A NP_000446.1:p.Arg331Gln NM_000455.4 missense_variant NM_000455.4:c.992G>A NP_000446.1:p.Arg331Gln STK11 ATM 11 108178702 G/C 0 NM_000051.3 missense_variant NM_000051.3:c.5753G>C NP_000042.3:p.Arg1918Thr NM_000051.3 missense_variant NM_000051.3:c.5753G>C NP_000042.3:p.Arg1918Thr ATM STK11 19 1226569 C/T 0 NM_000455.4 missense_variant NM_000455.4:c.1225C>T NP_000446.1:p.Arg409Trp NM_000455.4 missense_variant NM_000455.4:c.1225C>T NP_000446.1:p.Arg409Trp STK11 MSH2 2 47672731 A/T 0 NM_000251.2 missense_variant NM_000251.2:c.1321A>T NP_000242.1:p.Thr441Ser NM_000251.2 missense_variant NM_000251.2:c.1321A>T NP_000242.1:p.Thr441Ser MSH2 FANCD2 3 10084262 A/G 0 NM_033084.3 missense_variant NM_033084.3:c.803A>G NP_149075.2:p.Asp268Gly NM_033084.3 missense_variant NM_033084.3:c.803A>G NP_149075.2:p.Asp268Gly FANCD2 NSD1 5 176639062 A/G 0 NM_022455.4 missense_variant NM_022455.4:c.3662A>G NP_071900.2:p.Gln1221Arg NM_022455.4 missense_variant NM_022455.4:c.3662A>G NP_071900.2:p.Gln1221Arg NSD1 TSC2 16 2136747 G/T 0 NM_000548.3 missense_variant NM_000548.3:c.4864G>T NP_000539.2:p.Ala1622Ser NM_000548.3 missense_variant NM_000548.3:c.4864G>T NP_000539.2:p.Ala1622Ser TSC2 BUB1B 15 40477447 A/G 0 NM_001211.5 missense_variant NM_001211.5:c.833A>G NP_001202.4:p.Asn278Ser NM_001211.5 missense_variant NM_001211.5:c.833A>G NP_001202.4:p.Asn278Ser BUB1B ALK 2 29498007 C/T 0.04 NM_004304.4 missense_variant NM_004304.4:c.1999G>A NP_004295.2:p.Gly667Arg NM_004304.4 missense_variant NM_004304.4:c.1999G>A NP_004295.2:p.Gly667Arg ALK PTCH1 9 98268849 C/A 0 NM_000264.3 missense_variant NM_000264.3:c.234G>T NP_000255.2:p.Trp78Cys NM_000264.3 missense_variant NM_000264.3:c.234G>T NP_000255.2:p.Trp78Cys PTCH1 RET 10 43597793 G/A 0.14 NM_020975.4 missense_variant NM_020975.4:c.341G>A NP_066124.1:p.Arg114His NM_020975.4 missense_variant NM_020975.4:c.341G>A NP_066124.1:p.Arg114His RET DIS3L2 2 233075109 G/A 0 NM_152383.4 missense_variant NM_152383.4:c.1198G>A NP_689596.4:p.Ala400Thr NM_152383.4 missense_variant NM_152383.4:c.1198G>A NP_689596.4:p.Ala400Thr DIS3L2 ERCC3 2 128050331 C/A 0 NM_000122.1 missense_variant NM_000122.1:c.326G>T NP_000113.1:p.Arg109Leu NM_000122.1 missense_variant NM_000122.1:c.326G>T NP_000113.1:p.Arg109Leu ERCC3 PALB2 16 23641044 G/A 0 NM_024675.3 missense_variant NM_024675.3:c.2431C>T NP_078951.2:p.Pro811Ser NM_024675.3 missense_variant NM_024675.3:c.2431C>T NP_078951.2:p.Pro811Ser PALB2 FANCD2,FANCD2OS 3 10128928 C/T 0.22 NM_033084.3 missense_variant NM_033084.3:c.3446C>T NP_149075.2:p.Ala1149Val NM_033084.3 missense_variant NM_033084.3:c.3446C>T NP_149075.2:p.Ala1149Val FANCD2 PTCH1 9 98224149 C/T 0.02 NM_000264.3 missense_variant NM_000264.3:c.2692G>A NP_000255.2:p.Asp898Asn NM_000264.3 missense_variant NM_000264.3:c.2692G>A NP_000255.2:p.Asp898Asn PTCH1 BLM 15 91310155 C/A 0 NM_000057.2 missense_variant NM_000057.2:c.2209C>A NP_000048.1:p.Leu737Met NM_000057.2 missense_variant NM_000057.2:c.2209C>A NP_000048.1:p.Leu737Met BLM BLM 15 91310158 A/C 0 NM_000057.2 missense_variant NM_000057.2:c.2212A>C NP_000048.1:p.Thr738Pro NM_000057.2 missense_variant NM_000057.2:c.2212A>C NP_000048.1:p.Thr738Pro BLM MSH2 2 47643457 G/T 0.62 NM_000251.2 missense_variant NM_000251.2:c.965G>T NP_000242.1:p.Gly322Val NM_000251.2 missense_variant NM_000251.2:c.965G>T NP_000242.1:p.Gly322Val MSH2 MET 7 116398608 C/T 0 NM_001127500.1 missense_variant NM_001127500.1:c.2198C>T NP_001120972.1:p.Thr733Ile NM_000245.2 missense_variant NM_000245.2:c.2198C>T NP_000236.2:p.Thr733Ile MET TSC2 16 2129166 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.3100G>A NP_000539.2:p.Val1034Ile NM_000548.3 missense_variant NM_000548.3:c.3100G>A NP_000539.2:p.Val1034Ile TSC2 FANCL 2 58392880 T/C 0.26 NM_001114636.1 missense_variant NM_001114636.1:c.685A>G NP_001108108.1:p.Thr229Ala NM_018062.3 missense_variant NM_018062.3:c.670A>G NP_060532.2:p.Thr224Ala FANCL TSC2 16 2129399 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.3254C>T NP_000539.2:p.Ser1085Leu NM_000548.3 missense_variant NM_000548.3:c.3254C>T NP_000539.2:p.Ser1085Leu TSC2 DIS3L2 2 232952218 G/A 0 NM_152383.4 missense_variant NM_152383.4:c.388G>A NP_689596.4:p.Asp130Asn NM_152383.4 missense_variant NM_152383.4:c.388G>A NP_689596.4:p.Asp130Asn DIS3L2 TSC2 16 2138492 C/A 0 NM_000548.3 missense_variant NM_000548.3:c.5305C>A NP_000539.2:p.His1769Asn NM_000548.3 missense_variant NM_000548.3:c.5305C>A NP_000539.2:p.His1769Asn TSC2 CHEK2 22 29130520 C/T 0 NM_001005735.1 missense_variant NM_001005735.1:c.190G>A NP_001005735.1:p.Glu64Lys NM_007194.3 missense_variant NM_007194.3:c.190G>A NP_009125.1:p.Glu64Lys CHEK2 TSC1 9 135800991 A/C 0.04 NM_000368.4 missense_variant NM_000368.4:c.346T>G NP_000359.1:p.Leu116Val NM_000368.4 missense_variant NM_000368.4:c.346T>G NP_000359.1:p.Leu116Val TSC1 RB1 13 48939097 G/A 0 NM_000321.2 missense_variant NM_000321.2:c.929G>A NP_000312.2:p.Gly310Glu NM_000321.2 missense_variant NM_000321.2:c.929G>A NP_000312.2:p.Gly310Glu RB1 BLM 15 91306247 A/G 0 NM_000057.2 missense_variant NM_000057.2:c.1934A>G NP_000048.1:p.Gln645Arg NM_000057.2 missense_variant NM_000057.2:c.1934A>G NP_000048.1:p.Gln645Arg BLM NF1 17 29559777 C/T 0 NM_001042492.2 missense_variant NM_001042492.2:c.3374C>T NP_001035957.1:p.Ala1125Val NM_000267.3 missense_variant NM_000267.3:c.3374C>T NP_000258.1:p.Ala1125Val NF1 NBN 8 90993017 T/C 0 NM_002485.4 missense_variant NM_002485.4:c.425A>G NP_002476.2:p.Asn142Ser NM_002485.4 missense_variant NM_002485.4:c.425A>G NP_002476.2:p.Asn142Ser NBN TSC2 16 2136784 G/A 0.02 NM_000548.3 missense_variant NM_000548.3:c.4901G>A NP_000539.2:p.Arg1634His NM_000548.3 missense_variant NM_000548.3:c.4901G>A NP_000539.2:p.Arg1634His TSC2 CEBPA 19 33793069 G/C 0 NM_004364.3 missense_variant NM_004364.3:c.252C>G NP_004355.2:p.His84Gln NM_004364.3 missense_variant NM_004364.3:c.252C>G NP_004355.2:p.His84Gln CEBPA CHEK2 22 29091177 T/C 0 NM_001005735.1 missense_variant NM_001005735.1:c.1442A>G NP_001005735.1:p.Asp481Gly NM_007194.3 missense_variant NM_007194.3:c.1313A>G NP_009125.1:p.Asp438Gly CHEK2 FANCD2 3 10119813 G/C 0 NM_033084.3 missense_variant NM_033084.3:c.2908G>C NP_149075.2:p.Glu970Gln NM_033084.3 missense_variant NM_033084.3:c.2908G>C NP_149075.2:p.Glu970Gln FANCD2 XPC 3 14199767 T/C 0.02 NM_004628.4 missense_variant NM_004628.4:c.1616A>G NP_004619.3:p.Glu539Gly NM_004628.4 missense_variant NM_004628.4:c.1616A>G NP_004619.3:p.Glu539Gly XPC BRCA2 13 32911905 A/T 0 NM_000059.3 missense_variant NM_000059.3:c.3413A>T NP_000050.2:p.Gln1138Leu NM_000059.3 missense_variant NM_000059.3:c.3413A>T NP_000050.2:p.Gln1138Leu BRCA2 MAX 14 65569033 C/A 0 NM_002382.4 missense_variant NM_002382.4:c.25G>T NP_002373.3:p.Val9Leu NM_002382.4 missense_variant NM_002382.4:c.25G>T NP_002373.3:p.Val9Leu MAX SLX4 16 3640162 C/G 0 NM_032444.2 missense_variant NM_032444.2:c.3477G>C NP_115820.2:p.Glu1159Asp NM_032444.2 missense_variant NM_032444.2:c.3477G>C NP_115820.2:p.Glu1159Asp SLX4 NF1 17 29687707 C/A 0 NM_001042492.2 missense_variant NM_001042492.2:c.8363C>A NP_001035957.1:p.Ser2788Tyr NM_000267.3 missense_variant NM_000267.3:c.8300C>A NP_000258.1:p.Ser2767Tyr NF1 TSC2 16 2110791 G/A 0 NM_000548.3 missense_variant NM_000548.3:c.1096G>A NP_000539.2:p.Glu366Lys NM_000548.3 missense_variant NM_000548.3:c.1096G>A NP_000539.2:p.Glu366Lys TSC2 ATM 11 108175463 T/T 0.18 NM_000051.3 missense_variant NM_000051.3:c.5558A>T NP_000042.3:p.Asp1853Val NM_000051.3 missense_variant NM_000051.3:c.5558A>T NP_000042.3:p.Asp1853Val ATM FANCD2 3 10101998 A/G 0 NM_033084.3 missense_variant NM_033084.3:c.1677A>G NP_149075.2:p.Ile559Met NM_033084.3 missense_variant NM_033084.3:c.1677A>G NP_149075.2:p.Ile559Met FANCD2 BMPR1A 10 88679047 A/C 0 NM_004329.2 missense_variant NM_004329.2:c.987A>C NP_004320.2:p.Arg329Ser NM_004329.2 missense_variant NM_004329.2:c.987A>C NP_004320.2:p.Arg329Ser BMPR1A SBDS 7 66460335 C/T 0 NM_016038.2 missense_variant NM_016038.2:c.70G>A NP_057122.2:p.Gly24Arg NM_016038.2 missense_variant NM_016038.2:c.70G>A NP_057122.2:p.Gly24Arg SBDS FANCI,POLG 15 89859634 G/T 0 NM_001113378.1 missense_variant NM_001113378.1:c.3931G>T NP_001106849.1:p.Ala1311Ser NM_001113378.1 missense_variant NM_001113378.1:c.3931G>T NP_001106849.1:p.Ala1311Ser FANCI MET 7 116340097 C/T 0.02 NM_001127500.1 missense_variant NM_001127500.1:c.959C>T NP_001120972.1:p.Ala320Val NM_000245.2 missense_variant NM_000245.2:c.959C>T NP_000236.2:p.Ala320Val MET SLX4 16 3639977 A/A 4.11 NM_032444.2 missense_variant NM_032444.2:c.3662C>T NP_115820.2:p.Ala1221Val NM_032444.2 missense_variant NM_032444.2:c.3662C>T NP_115820.2:p.Ala1221Val SLX4 SLX4 16 3640784 A/A 4.11 NM_032444.2 missense_variant NM_032444.2:c.2855C>T NP_115820.2:p.Ala952Val NM_032444.2 missense_variant NM_032444.2:c.2855C>T NP_115820.2:p.Ala952Val SLX4 SLX4 16 3640785 T/T 6.71 NM_032444.2 missense_variant NM_032444.2:c.2854G>A NP_115820.2:p.Ala952Thr NM_032444.2 missense_variant NM_032444.2:c.2854G>A NP_115820.2:p.Ala952Thr SLX4 SLX4 16 3650987 C/C 5.45 NM_032444.2 missense_variant NM_032444.2:c.1156A>G NP_115820.2:p.Met386Val NM_032444.2 missense_variant NM_032444.2:c.1156A>G NP_115820.2:p.Met386Val SLX4 SLX4 16 3656625 A/A 5.97 NM_032444.2 missense_variant NM_032444.2:c.610C>T NP_115820.2:p.Arg204Cys NM_032444.2 missense_variant NM_032444.2:c.610C>T NP_115820.2:p.Arg204Cys SLX4 SLX4 16 3647692 C/C 5.49 NM_032444.2 missense_variant NM_032444.2:c.1371T>G NP_115820.2:p.Asn457Lys NM_032444.2 missense_variant NM_032444.2:c.1371T>G NP_115820.2:p.Asn457Lys SLX4 MSH6 2 48026300 C/G 0 NM_000179.2 missense_variant NM_000179.2:c.1178C>G NP_000170.1:p.Ala393Gly NM_000179.2 missense_variant NM_000179.2:c.1178C>G NP_000170.1:p.Ala393Gly MSH6 ATM,C11ORF65 11 108196244 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.6780A>G NP_000042.3:p.Ile2260Met NM_000051.3 missense_variant NM_000051.3:c.6780A>G NP_000042.3:p.Ile2260Met ATM ERCC4 16 14042130 A/G 0 NM_005236.2 missense_variant NM_005236.2:c.2677A>G NP_005227.1:p.Asn893Asp NM_005236.2 missense_variant NM_005236.2:c.2677A>G NP_005227.1:p.Asn893Asp ERCC4 GATA2 3 128204668 T/C 0 NM_032638.4 missense_variant NM_032638.4:c.773A>G NP_116027.2:p.His258Arg NM_032638.4 missense_variant NM_032638.4:c.773A>G NP_116027.2:p.His258Arg GATA2 BRIP1 17 59821904 T/C 0 NM_032043.2 missense_variant NM_032043.2:c.2146A>G NP_114432.2:p.Asn716Asp NM_032043.2 missense_variant NM_032043.2:c.2146A>G NP_114432.2:p.Asn716Asp BRIP1 CDH1 16 68835678 G/A 0 NM_004360.3 missense_variant NM_004360.3:c.269G>A NP_004351.1:p.Arg90Gln NM_004360.3 missense_variant NM_004360.3:c.269G>A NP_004351.1:p.Arg90Gln CDH1 BRCA2 13 32906471 T/C 0 NM_000059.3 missense_variant NM_000059.3:c.856T>C NP_000050.2:p.Ser286Pro NM_000059.3 missense_variant NM_000059.3:c.856T>C NP_000050.2:p.Ser286Pro BRCA2 FANCL 2 58468429 C/G 0 NM_001114636.1 missense_variant NM_001114636.1:c.20G>C NP_001108108.1:p.Ser7Thr NM_018062.3 missense_variant NM_018062.3:c.20G>C NP_060532.2:p.Ser7Thr FANCL ATM 11 108121708 G/T 0 NM_000051.3 missense_variant NM_000051.3:c.1516G>T NP_000042.3:p.Gly506Cys NM_000051.3 missense_variant NM_000051.3:c.1516G>T NP_000042.3:p.Gly506Cys ATM BRCA2 13 32972761 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.10111A>G NP_000050.2:p.Thr3371Ala NM_000059.3 missense_variant NM_000059.3:c.10111A>G NP_000050.2:p.Thr3371Ala BRCA2 CDH1 16 68849506 C/T 0 NM_004360.3 missense_variant NM_004360.3:c.1409C>T NP_004351.1:p.Thr470Ile NM_004360.3 missense_variant NM_004360.3:c.1409C>T NP_004351.1:p.Thr470Ile CDH1 MSH2 2 47707997 A/G 0 NM_000251.2 missense_variant NM_000251.2:c.2621A>G NP_000242.1:p.Tyr874Cys NM_000251.2 missense_variant NM_000251.2:c.2621A>G NP_000242.1:p.Tyr874Cys MSH2 GATA2 3 128199914 C/A 0 NM_032638.4 missense_variant NM_032638.4:c.1391G>T NP_116027.2:p.Ser464Ile NM_032638.4 missense_variant NM_032638.4:c.1391G>T NP_116027.2:p.Ser464Ile GATA2 ATM,C11ORF65 11 108213968 G/A 0.02 NM_000051.3 missense_variant NM_000051.3:c.8288G>A NP_000042.3:p.Arg2763Gln NM_000051.3 missense_variant NM_000051.3:c.8288G>A NP_000042.3:p.Arg2763Gln ATM PMS2 7 6017317 C/T 0 NM_000535.5 missense_variant NM_000535.5:c.2347G>A NP_000526.1:p.Val783Ile NM_000535.5 missense_variant NM_000535.5:c.2347G>A NP_000526.1:p.Val783Ile PMS2 EXT2 11 44135827 T/C 0 NM_000401.3 missense_variant NM_000401.3:c.818T>C NP_000392.3:p.Val273Ala NM_207122.1 missense_variant NM_207122.1:c.719T>C NP_997005.1:p.Val240Ala EXT2 ATM 11 108137984 T/G 0 NM_000051.3 missense_variant NM_000051.3:c.2553T>G NP_000042.3:p.Asp851Glu NM_000051.3 missense_variant NM_000051.3:c.2553T>G NP_000042.3:p.Asp851Glu ATM DICER1 14 95592966 T/C 0 NM_177438.2 missense_variant NM_177438.2:c.854A>G NP_803187.1:p.Asn285Ser NM_177438.2 missense_variant NM_177438.2:c.854A>G NP_803187.1:p.Asn285Ser DICER1 SDHB 1 17371313 T/A 0 NM_003000.2 missense_variant NM_003000.2:c.143A>T NP_002991.2:p.Asp48Val NM_003000.2 missense_variant NM_003000.2:c.143A>T NP_002991.2:p.Asp48Val SDHB FANCC 9 97869475 G/A 0.02 NM_000136.2 missense_variant NM_000136.2:c.1406C>T NP_000127.2:p.Thr469Met NM_000136.2 missense_variant NM_000136.2:c.1406C>T NP_000127.2:p.Thr469Met FANCC SDHD 11 111965549 C/T 0 NM_003002.3 missense_variant NM_003002.3:c.335C>T NP_002993.1:p.Thr112Ile NM_003002.3 missense_variant NM_003002.3:c.335C>T NP_002993.1:p.Thr112Ile SDHD TSC1 9 135786868 G/A 0.02 NM_000368.4 missense_variant NM_000368.4:c.1001C>T NP_000359.1:p.Ser334Leu NM_000368.4 missense_variant NM_000368.4:c.1001C>T NP_000359.1:p.Ser334Leu TSC1 BRCA2 13 32913804 A/A 0.02 NM_000059.3 missense_variant NM_000059.3:c.5312G>A NP_000050.2:p.Gly1771Asp NM_000059.3 missense_variant NM_000059.3:c.5312G>A NP_000050.2:p.Gly1771Asp BRCA2 NSD1 5 176694686 G/A 0 NM_022455.4 missense_variant NM_022455.4:c.5270G>A NP_071900.2:p.Arg1757Lys NM_022455.4 missense_variant NM_022455.4:c.5270G>A NP_071900.2:p.Arg1757Lys NSD1 PRF1 10 72358248 C/T 0 NM_005041.4 missense_variant NM_005041.4:c.1229G>A NP_005032.2:p.Arg410Gln NM_005041.4 missense_variant NM_005041.4:c.1229G>A NP_005032.2:p.Arg410Gln PRF1 NSD1 5 176721436 C/T 0 NM_022455.4 missense_variant NM_022455.4:c.7067C>T NP_071900.2:p.Thr2356Met NM_022455.4 missense_variant NM_022455.4:c.7067C>T NP_071900.2:p.Thr2356Met NSD1 WT1 11 32456630 C/T 0 NM_024426.4 missense_variant NM_024426.4:c.262G>A NP_077744.3:p.Gly88Ser NM_024426.4 missense_variant NM_024426.4:c.262G>A NP_077744.3:p.Gly88Ser WT1 BRCA2 13 32906607 A/T 0 NM_000059.3 missense_variant NM_000059.3:c.992A>T NP_000050.2:p.Lys331Ile NM_000059.3 missense_variant NM_000059.3:c.992A>T NP_000050.2:p.Lys331Ile BRCA2 FANCI 15 89807181 C/T 0 NM_001113378.1 missense_variant NM_001113378.1:c.593C>T NP_001106849.1:p.Ala198Val NM_001113378.1 missense_variant NM_001113378.1:c.593C>T NP_001106849.1:p.Ala198Val FANCI FANCE 6 35426156 T/C 0 NM_021922.2 missense_variant NM_021922.2:c.1052T>C NP_068741.1:p.Leu351Pro NM_021922.2 missense_variant NM_021922.2:c.1052T>C NP_068741.1:p.Leu351Pro FANCE BIVM-ERCC5,ERCC5 13 103525682 G/A 0 NM_001204425.1 missense_variant NM_001204425.1:c.4315G>A NP_001191354.1:p.Asp1439Asn NM_000123.3 missense_variant NM_000123.3:c.2953G>A NP_000114.2:p.Asp985Asn ERCC5 EPCAM 2 47601029 G/C 0.1 NM_002354.2 missense_variant NM_002354.2:c.267G>C NP_002345.2:p.Gln89His NM_002354.2 missense_variant NM_002354.2:c.267G>C NP_002345.2:p.Gln89His EPCAM APC 5 112162813 C/A 0 NM_000038.5 missense_variant NM_000038.5:c.1417C>A NP_000029.2:p.Gln473Lys NM_000038.5 missense_variant NM_000038.5:c.1417C>A NP_000029.2:p.Gln473Lys APC FANCC 9 97869487 T/C 0.16 NM_000136.2 missense_variant NM_000136.2:c.1394A>G NP_000127.2:p.Gln465Arg NM_000136.2 missense_variant NM_000136.2:c.1394A>G NP_000127.2:p.Gln465Arg FANCC FANCC 9 97934359 C/T 1.26 NM_000136.2 missense_variant NM_000136.2:c.416G>A NP_000127.2:p.Gly139Glu NM_000136.2 missense_variant NM_000136.2:c.416G>A NP_000127.2:p.Gly139Glu FANCC DICER1 14 95574029 A/G 0 NM_177438.2 missense_variant NM_177438.2:c.2720T>C NP_803187.1:p.Ile907Thr NM_177438.2 missense_variant NM_177438.2:c.2720T>C NP_803187.1:p.Ile907Thr DICER1 DICER1 14 95593020 T/C 0 NM_177438.2 missense_variant NM_177438.2:c.800A>G NP_803187.1:p.Tyr267Cys NM_177438.2 missense_variant NM_177438.2:c.800A>G NP_803187.1:p.Tyr267Cys DICER1 CYLD 16 50783886 A/G 0 NM_015247.2 missense_variant NM_015247.2:c.277A>G NP_056062.1:p.Asn93Asp NM_001042412.1 missense_variant NM_001042412.1:c.277A>G NP_001035877.1:p.Asn93Asp CYLD RET 10 43620417 T/C 0 NM_020975.4 missense_variant NM_020975.4:c.3026T>C NP_066124.1:p.Met1009Thr NM_020975.4 missense_variant NM_020975.4:c.3026T>C NP_066124.1:p.Met1009Thr RET ATM,C11ORF65 11 108205807 G/A 0 NM_000051.3 missense_variant NM_000051.3:c.8122G>A NP_000042.3:p.Asp2708Asn NM_000051.3 missense_variant NM_000051.3:c.8122G>A NP_000042.3:p.Asp2708Asn ATM ATM 11 108153465 G/C 0 NM_000051.3 missense_variant NM_000051.3:c.3605G>C NP_000042.3:p.Gly1202Ala NM_000051.3 missense_variant NM_000051.3:c.3605G>C NP_000042.3:p.Gly1202Ala ATM FANCF 11 22646972 G/C 0.02 NM_022725.3 missense_variant NM_022725.3:c.385C>G NP_073562.1:p.Leu129Val NM_022725.3 missense_variant NM_022725.3:c.385C>G NP_073562.1:p.Leu129Val FANCF HNF1A 12 121437317 A/C 0 NM_000545.5 missense_variant NM_000545.5:c.1655A>C NP_000536.5:p.Glu552Ala NM_000545.5 missense_variant NM_000545.5:c.1655A>C NP_000536.5:p.Glu552Ala HNF1A DIS3L2 2 233194618 C/T 0 NM_152383.4 missense_variant NM_152383.4:c.1835C>T NP_689596.4:p.Pro612Leu NM_152383.4 missense_variant NM_152383.4:c.1835C>T NP_689596.4:p.Pro612Leu DIS3L2 BRCA2 13 32918782 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.6929C>T NP_000050.2:p.Thr2310Ile NM_000059.3 missense_variant NM_000059.3:c.6929C>T NP_000050.2:p.Thr2310Ile BRCA2 BRCA2 13 32954273 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.9247A>G NP_000050.2:p.Lys3083Glu NM_000059.3 missense_variant NM_000059.3:c.9247A>G NP_000050.2:p.Lys3083Glu BRCA2 BRCA2 13 32972665 A/G 0 NM_000059.3 missense_variant NM_000059.3:c.10015A>G NP_000050.2:p.Ile3339Val NM_000059.3 missense_variant NM_000059.3:c.10015A>G NP_000050.2:p.Ile3339Val BRCA2 EXT2 11 44228411 C/T 0 NM_000401.3 missense_variant NM_000401.3:c.1663C>T NP_000392.3:p.Arg555Cys NM_207122.1 missense_variant NM_207122.1:c.1564C>T NP_997005.1:p.Arg522Cys EXT2 MLH1 3 37089060 G/C 0 NM_000249.3 missense_variant NM_000249.3:c.1782G>C NP_000240.1:p.Glu594Asp NM_000249.3 missense_variant NM_000249.3:c.1782G>C NP_000240.1:p.Glu594Asp MLH1 PRKAR1A 17 66518940 G/A 0.04 NM_212471.2 missense_variant NM_212471.2:c.221G>A NP_997636.1:p.Arg74His NM_002734.4 missense_variant NM_002734.4:c.221G>A NP_002725.1:p.Arg74His PRKAR1A RECQL4 8 145743132 C/A 0 NM_004260.3 missense_variant NM_004260.3:c.37G>T NP_004251.3:p.Ala13Ser NM_004260.3 missense_variant NM_004260.3:c.37G>T NP_004251.3:p.Ala13Ser RECQL4 MSH6 2 48030714 C/A 0 NM_000179.2 missense_variant NM_000179.2:c.3328C>A NP_000170.1:p.Pro1110Thr NM_000179.2 missense_variant NM_000179.2:c.3328C>A NP_000170.1:p.Pro1110Thr MSH6 FANCE 6 35428345 C/T 0.1 NM_021922.2 missense_variant NM_021922.2:c.1333C>T NP_068741.1:p.Pro445Ser NM_021922.2 missense_variant NM_021922.2:c.1333C>T NP_068741.1:p.Pro445Ser FANCE BRIP1 17 59886067 G/C 0 NM_032043.2 missense_variant NM_032043.2:c.679C>G NP_114432.2:p.Gln227Glu NM_032043.2 missense_variant NM_032043.2:c.679C>G NP_114432.2:p.Gln227Glu BRIP1 ALK 2 30143500 A/G 0 NM_004304.4 missense_variant NM_004304.4:c.26T>C NP_004295.2:p.Leu9Pro NM_004304.4 missense_variant NM_004304.4:c.26T>C NP_004295.2:p.Leu9Pro ALK BRIP1 17 59761304 G/A 0.02 NM_032043.2 missense_variant NM_032043.2:c.3103C>T NP_114432.2:p.Arg1035Cys NM_032043.2 missense_variant NM_032043.2:c.3103C>T NP_114432.2:p.Arg1035Cys BRIP1 RHBDF2 17 74477579 T/G 2.12 NM_024599.5 missense_variant NM_024599.5:c.28A>C NP_078875.4:p.Ser10Arg NM_001005498.3 missense_variant NM_001005498.3:c.28A>C NP_001005498.2:p.Ser10Arg RHBDF2 HNF1A 12 121434093 T/G 0 NM_000545.5 missense_variant NM_000545.5:c.984T>G NP_000536.5:p.Ser328Arg NM_000545.5 missense_variant NM_000545.5:c.984T>G NP_000536.5:p.Ser328Arg HNF1A BUB1B,PAK6 15 40512787 A/G 0 NM_001211.5 missense_variant NM_001211.5:c.2980A>G NP_001202.4:p.Asn994Asp NM_001211.5 missense_variant NM_001211.5:c.2980A>G NP_001202.4:p.Asn994Asp BUB1B PMS2 7 6017339 G/C 0 NM_000535.5 missense_variant NM_000535.5:c.2325C>G NP_000526.1:p.Asn775Lys NM_000535.5 missense_variant NM_000535.5:c.2325C>G NP_000526.1:p.Asn775Lys PMS2 FANCA 16 89858433 T/C 0 NM_000135.2 missense_variant NM_000135.2:c.1127A>G NP_000126.2:p.Gln376Arg NM_000135.2 missense_variant NM_000135.2:c.1127A>G NP_000126.2:p.Gln376Arg FANCA BRCA2 13 32912060 C/T 0 NM_000059.3 missense_variant NM_000059.3:c.3568C>T NP_000050.2:p.Arg1190Trp NM_000059.3 missense_variant NM_000059.3:c.3568C>T NP_000050.2:p.Arg1190Trp BRCA2 BUB1B 15 40457358 A/G 0 NM_001211.5 missense_variant NM_001211.5:c.140A>G NP_001202.4:p.Gln47Arg NM_001211.5 missense_variant NM_001211.5:c.140A>G NP_001202.4:p.Gln47Arg BUB1B FANCE 6 35420353 G/A 0 NM_021922.2 missense_variant NM_021922.2:c.31G>A NP_068741.1:p.Ala11Thr NM_021922.2 missense_variant NM_021922.2:c.31G>A NP_068741.1:p.Ala11Thr FANCE SBDS 7 66453476 G/G 1.7 NM_016038.2 missense_variant NM_016038.2:c.635T>C NP_057122.2:p.Ile212Thr NM_016038.2 missense_variant NM_016038.2:c.635T>C NP_057122.2:p.Ile212Thr SBDS PALB2 16 23619239 G/C 0.02 NM_024675.3 missense_variant NM_024675.3:c.3296C>G NP_078951.2:p.Thr1099Arg NM_024675.3 missense_variant NM_024675.3:c.3296C>G NP_078951.2:p.Thr1099Arg PALB2 BRCA1 17 41222975 T/T 1.12 NM_007300.3 missense_variant NM_007300.3:c.5019G>A NP_009231.2:p.Met1673Ile NM_007294.3 missense_variant NM_007294.3:c.4956G>A NP_009225.1:p.Met1652Ile BRCA1 ATM 11 108175535 T/C 0 NM_000051.3 missense_variant NM_000051.3:c.5630T>C NP_000042.3:p.Phe1877Ser NM_000051.3 missense_variant NM_000051.3:c.5630T>C NP_000042.3:p.Phe1877Ser ATM BRIP1 17 59924539 C/A 0 NM_032043.2 missense_variant NM_032043.2:c.550G>T NP_114432.2:p.Asp184Tyr NM_032043.2 missense_variant NM_032043.2:c.550G>T NP_114432.2:p.Asp184Tyr BRIP1 RHBDF2 17 74477512 G/A 0 NM_024599.5 missense_variant NM_024599.5:c.95C>T NP_078875.4:p.Pro32Leu NM_001005498.3 missense_variant NM_001005498.3:c.95C>T NP_001005498.2:p.Pro32Leu RHBDF2 TSC1 9 135771698 G/A 0 NM_000368.4 missense_variant NM_000368.4:c.3419C>T NP_000359.1:p.Pro1140Leu NM_000368.4 missense_variant NM_000368.4:c.3419C>T NP_000359.1:p.Pro1140Leu TSC1 MSH2 2 47643535 A/G 0 NM_000251.2 missense_variant NM_000251.2:c.1043A>G NP_000242.1:p.Gln348Arg NM_000251.2 missense_variant NM_000251.2:c.1043A>G NP_000242.1:p.Gln348Arg MSH2 BRCA2 13 32930634 G/A 0.02 NM_000059.3 missense_variant NM_000059.3:c.7505G>A NP_000050.2:p.Arg2502His NM_000059.3 missense_variant NM_000059.3:c.7505G>A NP_000050.2:p.Arg2502His BRCA2 CEBPA 19 33792303 C/T 0 NM_004364.3 missense_variant NM_004364.3:c.1018G>A NP_004355.2:p.Gly340Ser NM_004364.3 missense_variant NM_004364.3:c.1018G>A NP_004355.2:p.Gly340Ser CEBPA FANCD2 3 10107554 C/T 0 NM_033084.3 missense_variant NM_033084.3:c.2276C>T NP_149075.2:p.Pro759Leu NM_033084.3 missense_variant NM_033084.3:c.2276C>T NP_149075.2:p.Pro759Leu FANCD2 BUB1B 15 40477837 C/T 0 NM_001211.5 missense_variant NM_001211.5:c.1052C>T NP_001202.4:p.Pro351Leu NM_001211.5 missense_variant NM_001211.5:c.1052C>T NP_001202.4:p.Pro351Leu BUB1B PMS1 2 190728524 G/A 0 NM_000534.4 missense_variant NM_000534.4:c.1912G>A NP_000525.1:p.Ala638Thr NM_000534.4 missense_variant NM_000534.4:c.1912G>A NP_000525.1:p.Ala638Thr PMS1 DDB2 11 47259398 A/T 0 NM_000107.2 missense_variant NM_000107.2:c.1034A>T NP_000098.1:p.His345Leu NM_000107.2 missense_variant NM_000107.2:c.1034A>T NP_000098.1:p.His345Leu DDB2 SLX4 16 3639789 C/T 0.02 NM_032444.2 missense_variant NM_032444.2:c.3850G>A NP_115820.2:p.Val1284Met NM_032444.2 missense_variant NM_032444.2:c.3850G>A NP_115820.2:p.Val1284Met SLX4 NBN 8 90976694 G/A 0 NM_002485.4 missense_variant NM_002485.4:c.938C>T NP_002476.2:p.Ala313Val NM_002485.4 missense_variant NM_002485.4:c.938C>T NP_002476.2:p.Ala313Val NBN ATM 11 108098545 A/G 0 NM_000051.3 missense_variant NM_000051.3:c.115A>G NP_000042.3:p.Thr39Ala NM_000051.3 missense_variant NM_000051.3:c.115A>G NP_000042.3:p.Thr39Ala ATM SLX4 16 3651133 G/A 0.02 NM_032444.2 missense_variant NM_032444.2:c.1010C>T NP_115820.2:p.Pro337Leu NM_032444.2 missense_variant NM_032444.2:c.1010C>T NP_115820.2:p.Pro337Leu SLX4 PMS1 2 190708703 A/C 0 NM_000534.4 missense_variant NM_000534.4:c.596A>C NP_000525.1:p.Gln199Pro NM_000534.4 missense_variant NM_000534.4:c.596A>C NP_000525.1:p.Gln199Pro PMS1 PTCH1 9 98211599 G/A 0 NM_000264.3 missense_variant NM_000264.3:c.3556C>T NP_000255.2:p.Pro1186Ser NM_000264.3 missense_variant NM_000264.3:c.3556C>T NP_000255.2:p.Pro1186Ser PTCH1 BRCA1 17 41219642 T/C 0 NM_007300.3 missense_variant NM_007300.3:c.5120A>G NP_009231.2:p.His1707Arg NM_007294.3 missense_variant NM_007294.3:c.5057A>G NP_009225.1:p.His1686Arg BRCA1 ALK 2 29446296 C/T 0 NM_004304.4 missense_variant NM_004304.4:c.3271G>A NP_004295.2:p.Asp1091Asn NM_004304.4 missense_variant NM_004304.4:c.3271G>A NP_004295.2:p.Asp1091Asn ALK MLH1 3 37067243 G/A 0 NM_000249.3 missense_variant NM_000249.3:c.1154G>A NP_000240.1:p.Arg385His NM_000249.3 missense_variant NM_000249.3:c.1154G>A NP_000240.1:p.Arg385His MLH1 NF2 22 30077574 A/C 0 NM_000268.3 missense_variant NM_000268.3:c.1721A>C NP_000259.1:p.His574Pro NM_000268.3 missense_variant NM_000268.3:c.1721A>C NP_000259.1:p.His574Pro NF2 FANCC 9 98011434 T/C 0 NM_000136.2 missense_variant NM_000136.2:c.140A>G NP_000127.2:p.Lys47Arg NM_000136.2 missense_variant NM_000136.2:c.140A>G NP_000127.2:p.Lys47Arg FANCC TSC2 16 2111996 C/T 0 NM_000548.3 missense_variant NM_000548.3:c.1244C>T NP_000539.2:p.Ala415Val NM_000548.3 missense_variant NM_000548.3:c.1244C>T NP_000539.2:p.Ala415Val TSC2 CHEK2 22 29095854 T/C 0 NM_001005735.1 missense_variant NM_001005735.1:c.1109A>G NP_001005735.1:p.Tyr370Cys NM_007194.3 missense_variant NM_007194.3:c.980A>G NP_009125.1:p.Tyr327Cys CHEK2 FANCD2,FANCD2OS 3 10130195 A/G 0 NM_033084.3 missense_variant NM_033084.3:c.3529A>G NP_149075.2:p.Ile1177Val NM_033084.3 missense_variant NM_033084.3:c.3529A>G NP_149075.2:p.Ile1177Val FANCD2 EXT2 11 44129413 G/C 0 NM_000401.3 missense_variant NM_000401.3:c.250G>C NP_000392.3:p.Glu84Gln NM_207122.1 missense_variant NM_207122.1:c.151G>C NP_997005.1:p.Glu51Gln EXT2 ALK 2 29606618 G/T 0 NM_004304.4 missense_variant NM_004304.4:c.1262C>A NP_004295.2:p.Ala421Asp NM_004304.4 missense_variant NM_004304.4:c.1262C>A NP_004295.2:p.Ala421Asp ALK ERCC2 19 45868349 C/T 0 NM_000400.3 missense_variant NM_000400.3:c.428G>A NP_000391.1:p.Arg143Gln NM_000400.3 missense_variant NM_000400.3:c.428G>A NP_000391.1:p.Arg143Gln ERCC2 PALB2 16 23640969 C/T 0.02 NM_024675.3 missense_variant NM_024675.3:c.2506G>A NP_078951.2:p.Val836Ile NM_024675.3 missense_variant NM_024675.3:c.2506G>A NP_078951.2:p.Val836Ile PALB2 BRCA2 13 32971119 A/G 0.02 NM_000059.3 missense_variant NM_000059.3:c.9586A>G NP_000050.2:p.Lys3196Glu NM_000059.3 missense_variant NM_000059.3:c.9586A>G NP_000050.2:p.Lys3196Glu BRCA2 FANCM 14 45633740 T/C 0 NM_020937.2 missense_variant NM_020937.2:c.1760T>C NP_065988.1:p.Ile587Thr NM_020937.2 missense_variant NM_020937.2:c.1760T>C NP_065988.1:p.Ile587Thr FANCM PRF1 10 72360613 G/T 0 NM_005041.4 missense_variant NM_005041.4:c.46C>A NP_005032.2:p.Pro16Thr NM_005041.4 missense_variant NM_005041.4:c.46C>A NP_005032.2:p.Pro16Thr PRF1 RET 10 43615578 G/A 0 NM_020975.4 missense_variant NM_020975.4:c.2657G>A NP_066124.1:p.Arg886Gln NM_020975.4 missense_variant NM_020975.4:c.2657G>A NP_066124.1:p.Arg886Gln RET MSH6 2 48026641 A/G 0 NM_000179.2 missense_variant NM_000179.2:c.1519A>G NP_000170.1:p.Arg507Gly NM_000179.2 missense_variant NM_000179.2:c.1519A>G NP_000170.1:p.Arg507Gly MSH6 PMS1 2 190719506 T/A 0 NM_000534.4 missense_variant NM_000534.4:c.1508T>A NP_000525.1:p.Ile503Lys NM_000534.4 missense_variant NM_000534.4:c.1508T>A NP_000525.1:p.Ile503Lys PMS1 RAD51C 17 56787227 T/G 0 NM_058216.2 missense_variant NM_058216.2:c.713T>G NP_478123.1:p.Leu238Arg NM_058216.2 missense_variant NM_058216.2:c.713T>G NP_478123.1:p.Leu238Arg RAD51C XPA 9 100459556 C/T 0 NM_000380.3 missense_variant NM_000380.3:c.19G>A NP_000371.1:p.Ala7Thr NM_000380.3 missense_variant NM_000380.3:c.19G>A NP_000371.1:p.Ala7Thr XPA ALK 2 29448360 C/T 0.08 NM_004304.4 missense_variant NM_004304.4:c.3139G>A NP_004295.2:p.Ala1047Thr NM_004304.4 missense_variant NM_004304.4:c.3139G>A NP_004295.2:p.Ala1047Thr ALK APC 5 112178864 C/T 0 NM_000038.5 missense_variant NM_000038.5:c.7573C>T NP_000029.2:p.Arg2525Cys NM_000038.5 missense_variant NM_000038.5:c.7573C>T NP_000029.2:p.Arg2525Cys APC PTCH1 9 98211431 C/T 0 NM_000264.3 missense_variant NM_000264.3:c.3724G>A NP_000255.2:p.Glu1242Lys NM_000264.3 missense_variant NM_000264.3:c.3724G>A NP_000255.2:p.Glu1242Lys PTCH1 FANCC 9 97912214 G/A 0 NM_000136.2 missense_variant NM_000136.2:c.677C>T NP_000127.2:p.Ala226Val NM_000136.2 missense_variant NM_000136.2:c.677C>T NP_000127.2:p.Ala226Val FANCC BIVM-ERCC5,ERCC5 13 103527931 G/A 0.22 NM_001204425.1 missense_variant NM_001204425.1:c.4601G>A NP_001191354.1:p.Gly1534Glu NM_000123.3 missense_variant NM_000123.3:c.3239G>A NP_000114.2:p.Gly1080Glu ERCC5 BLM 15 91310159 C/T 0 NM_000057.2 missense_variant NM_000057.2:c.2213C>T NP_000048.1:p.Thr738Ile NM_000057.2 missense_variant NM_000057.2:c.2213C>T NP_000048.1:p.Thr738Ile BLM ALK 2 29497967 G/A 1 NM_004304.4 missense_variant,splice_region_variant NM_004304.4:c.2039C>T NP_004295.2:p.Thr680Ile NM_004304.4 missense_variant&splice_region_variant NM_004304.4:c.2039C>T NP_004295.2:p.Thr680Ile ALK RECQL4 8 145742799 T/C 2.93 NM_004260.3 missense_variant,splice_region_variant NM_004260.3:c.212A>G NP_004251.3:p.Glu71Gly NM_004260.3 missense_variant&splice_region_variant NM_004260.3:c.212A>G NP_004251.3:p.Glu71Gly RECQL4 SLX4 16 3645607 A/G 6.21 NM_032444.2 missense_variant,splice_region_variant NM_032444.2:c.2012T>C NP_115820.2:p.Leu671Ser NM_032444.2 missense_variant&splice_region_variant NM_032444.2:c.2012T>C NP_115820.2:p.Leu671Ser SLX4 FANCA 16 89838086 C/A 1.6 NM_000135.2 missense_variant,splice_region_variant NM_000135.2:c.2151G>T NP_000126.2:p.Met717Ile NM_000135.2 missense_variant&splice_region_variant NM_000135.2:c.2151G>T NP_000126.2:p.Met717Ile FANCA SBDS 7 66460278 C/A 0 NM_016038.2 missense_variant,splice_region_variant NM_016038.2:c.127G>T NP_057122.2:p.Val43Leu NM_016038.2 missense_variant&splice_region_variant NM_016038.2:c.127G>T NP_057122.2:p.Val43Leu SBDS BRCA2 13 32936829 A/G 0 NM_000059.3 missense_variant,splice_region_variant NM_000059.3:c.7975A>G NP_000050.2:p.Arg2659Gly NM_000059.3 missense_variant&splice_region_variant NM_000059.3:c.7975A>G NP_000050.2:p.Arg2659Gly BRCA2 WRN 8 30916058 A/G 0.12 NM_000553.4 missense_variant,splice_region_variant NM_000553.4:c.95A>G NP_000544.2:p.Lys32Arg NM_000553.4 missense_variant&splice_region_variant NM_000553.4:c.95A>G NP_000544.2:p.Lys32Arg WRN TSC2 16 2124390 A/G 0 NM_000548.3 missense_variant,splice_region_variant NM_000548.3:c.2545A>G NP_000539.2:p.Thr849Ala NM_000548.3 missense_variant&splice_region_variant NM_000548.3:c.2545A>G NP_000539.2:p.Thr849Ala TSC2 NF1 17 29497013 A/G 0 NM_001042492.2 missense_variant,splice_region_variant NM_001042492.2:c.584A>G NP_001035957.1:p.Lys195Arg NM_000267.3 missense_variant&splice_region_variant NM_000267.3:c.584A>G NP_000258.1:p.Lys195Arg NF1 RET 10 43600402 G/A 0 NM_020975.4 missense_variant,splice_region_variant NM_020975.4:c.628G>A NP_066124.1:p.Glu210Lys NM_020975.4 missense_variant&splice_region_variant NM_020975.4:c.628G>A NP_066124.1:p.Glu210Lys RET ATM,C11ORF65 11 108196951 C/T 0 NM_000051.3 missense_variant,splice_region_variant NM_000051.3:c.6974C>T NP_000042.3:p.Ala2325Val NM_000051.3 missense_variant&splice_region_variant NM_000051.3:c.6974C>T NP_000042.3:p.Ala2325Val ATM FANCA 16 89838086 A/A 1.6 NM_000135.2 missense_variant,splice_region_variant NM_000135.2:c.2151G>T NP_000126.2:p.Met717Ile NM_000135.2 missense_variant&splice_region_variant NM_000135.2:c.2151G>T NP_000126.2:p.Met717Ile FANCA ATM 11 108106399 G/A 0.04 NM_000051.3 missense_variant,splice_region_variant NM_000051.3:c.334G>A NP_000042.3:p.Ala112Thr NM_000051.3 missense_variant&splice_region_variant NM_000051.3:c.334G>A NP_000042.3:p.Ala112Thr ATM RB1 13 49030340 G/A 0 NM_000321.2 missense_variant,splice_region_variant NM_000321.2:c.1815G>A NP_000312.2:p.Met605Ile NM_000321.2 missense_variant&splice_region_variant NM_000321.2:c.1815G>A NP_000312.2:p.Met605Ile RB1 WRN 8 30948350 G/A 0 NM_000553.4 missense_variant,splice_region_variant NM_000553.4:c.1721G>A NP_000544.2:p.Gly574Glu NM_000553.4 missense_variant&splice_region_variant NM_000553.4:c.1721G>A NP_000544.2:p.Gly574Glu WRN CDH1 16 68846165 C/T 0 NM_004360.3 missense_variant,splice_region_variant NM_004360.3:c.1136C>T NP_004351.1:p.Thr379Met NM_004360.3 missense_variant&splice_region_variant NM_004360.3:c.1136C>T NP_004351.1:p.Thr379Met CDH1 BAP1 3 52443571 C/T 0.06 NM_004656.3 missense_variant,splice_region_variant NM_004656.3:c.121G>A NP_004647.1:p.Gly41Ser NM_004656.3 missense_variant&splice_region_variant NM_004656.3:c.121G>A NP_004647.1:p.Gly41Ser BAP1 ALK 2 29606599 T/G 0 NM_004304.4 missense_variant,splice_region_variant NM_004304.4:c.1281A>C NP_004295.2:p.Glu427Asp NM_004304.4 missense_variant&splice_region_variant NM_004304.4:c.1281A>C NP_004295.2:p.Glu427Asp ALK FANCE 6 35426216 G/A 0 NM_021922.2 missense_variant,splice_region_variant NM_021922.2:c.1112G>A NP_068741.1:p.Arg371Gln NM_021922.2 missense_variant&splice_region_variant NM_021922.2:c.1112G>A NP_068741.1:p.Arg371Gln FANCE BRCA2 13 32921033 G/A 0 NM_000059.3 missense_variant,splice_region_variant NM_000059.3:c.7007G>A NP_000050.2:p.Arg2336His NM_000059.3 missense_variant&splice_region_variant NM_000059.3:c.7007G>A NP_000050.2:p.Arg2336His BRCA2 DICER1 14 95566118 A/G 0 NM_177438.2 missense_variant,splice_region_variant NM_177438.2:c.4205T>C NP_803187.1:p.Met1402Thr NM_177438.2 missense_variant&splice_region_variant NM_177438.2:c.4205T>C NP_803187.1:p.Met1402Thr DICER1 FANCI 15 89804072 G/A 0.28 NM_001113378.1 missense_variant,splice_region_variant NM_001113378.1:c.286G>A NP_001106849.1:p.Glu96Lys NM_001113378.1 missense_variant&splice_region_variant NM_001113378.1:c.286G>A NP_001106849.1:p.Glu96Lys FANCI BLM 15 91341421 A/G 0 NM_000057.2 missense_variant,splice_region_variant NM_000057.2:c.3212A>G NP_000048.1:p.Asp1071Gly NM_000057.2 missense_variant&splice_region_variant NM_000057.2:c.3212A>G NP_000048.1:p.Asp1071Gly BLM EPCAM 2 47602438 C/T 0 NM_002354.2 missense_variant,splice_region_variant NM_002354.2:c.491C>T NP_002345.2:p.Thr164Ile NM_002354.2 missense_variant&splice_region_variant NM_002354.2:c.491C>T NP_002345.2:p.Thr164Ile EPCAM TMEM127 2 96920735 T/C 0 NM_017849.3 missense_variant,splice_region_variant NM_017849.3:c.245A>G NP_060319.1:p.Asp82Gly NM_017849.3 missense_variant&splice_region_variant NM_017849.3:c.245A>G NP_060319.1:p.Asp82Gly TMEM127 CDH1 16 68853185 A/G 0.02 NM_004360.3 missense_variant,splice_region_variant NM_004360.3:c.1568A>G NP_004351.1:p.Tyr523Cys NM_004360.3 missense_variant&splice_region_variant NM_004360.3:c.1568A>G NP_004351.1:p.Tyr523Cys CDH1 BAP1 3 52443571 T/T 0.06 NM_004656.3 missense_variant,splice_region_variant NM_004656.3:c.121G>A NP_004647.1:p.Gly41Ser NM_004656.3 missense_variant&splice_region_variant NM_004656.3:c.121G>A NP_004647.1:p.Gly41Ser BAP1 FANCI 15 89834846 A/C 0.36 NM_001113378.1 missense_variant,splice_region_variant NM_001113378.1:c.1893A>C NP_001106849.1:p.Leu631Phe NM_001113378.1 missense_variant&splice_region_variant NM_001113378.1:c.1893A>C NP_001106849.1:p.Leu631Phe FANCI WRN 8 31000144 C/T 2.04 NM_000553.4 missense_variant,splice_region_variant NM_000553.4:c.3236C>T NP_000544.2:p.Ser1079Leu NM_000553.4 missense_variant&splice_region_variant NM_000553.4:c.3236C>T NP_000544.2:p.Ser1079Leu WRN DIS3L2 2 232889039 C/T 0.1 NM_152383.4 missense_variant,splice_region_variant NM_152383.4:c.263C>T NP_689596.4:p.Pro88Leu NM_152383.4 missense_variant&splice_region_variant NM_152383.4:c.263C>T NP_689596.4:p.Pro88Leu DIS3L2 CHEK2 22 29099495 T/G 0 NM_001005735.1 missense_variant,splice_region_variant NM_001005735.1:c.1035A>C NP_001005735.1:p.Glu345Asp NM_007194.3 missense_variant&splice_region_variant NM_007194.3:c.906A>C NP_009125.1:p.Glu302Asp CHEK2 EPCAM 2 47606092 C/C 0 NM_002354.2 missense_variant,splice_region_variant NM_002354.2:c.556T>C NP_002345.2:p.Tyr186His NM_002354.2 missense_variant&splice_region_variant NM_002354.2:c.556T>C NP_002345.2:p.Tyr186His EPCAM EPCAM 2 47604154 G/A 0.02 NM_002354.2 missense_variant,splice_region_variant NM_002354.2:c.493G>A NP_002345.2:p.Ala165Thr NM_002354.2 missense_variant&splice_region_variant NM_002354.2:c.493G>A NP_002345.2:p.Ala165Thr EPCAM EGFR 7 55224352 G/A 0 NM_005228.3 missense_variant,splice_region_variant NM_005228.3:c.1133G>A NP_005219.2:p.Gly378Asp NM_005228.3 missense_variant&splice_region_variant NM_005228.3:c.1133G>A NP_005219.2:p.Gly378Asp EGFR ATM 11 108126944 T/G 0.16 NM_000051.3 missense_variant,splice_region_variant NM_000051.3:c.2127T>G NP_000042.3:p.Ile709Met NM_000051.3 missense_variant&splice_region_variant NM_000051.3:c.2127T>G NP_000042.3:p.Ile709Met ATM HNF1A 12 121431969 C/T 0 NM_000545.5 missense_variant,splice_region_variant NM_000545.5:c.716C>T NP_000536.5:p.Ala239Val NM_000545.5 missense_variant&splice_region_variant NM_000545.5:c.716C>T NP_000536.5:p.Ala239Val HNF1A SLX4 16 3645607 G/G 6.21 NM_032444.2 missense_variant,splice_region_variant NM_032444.2:c.2012T>C NP_115820.2:p.Leu671Ser NM_032444.2 missense_variant&splice_region_variant NM_032444.2:c.2012T>C NP_115820.2:p.Leu671Ser SLX4 ERCC3 2 128036749 T/C 0 NM_000122.1 missense_variant,splice_region_variant NM_000122.1:c.1730A>G NP_000113.1:p.Lys577Arg NM_000122.1 missense_variant&splice_region_variant NM_000122.1:c.1730A>G NP_000113.1:p.Lys577Arg ERCC3 FANCE 6 35425760 A/G 0 NM_021922.2 missense_variant,splice_region_variant NM_021922.2:c.968A>G NP_068741.1:p.Gln323Arg NM_021922.2 missense_variant&splice_region_variant NM_021922.2:c.968A>G NP_068741.1:p.Gln323Arg FANCE RAD51D 17 33433487 T/T 9.5 NR_037714.1 non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.246G>A NA NM_002878.3 missense_variant NM_002878.3:c.494G>A NP_002869.3:p.Arg165Gln RAD51D RAD51D 17 33433487 C/T 9.5 NR_037714.1 non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.246G>A NA NM_002878.3 missense_variant NM_002878.3:c.494G>A NP_002869.3:p.Arg165Gln RAD51D RAD51D 17 33430313 T/C 0.44 NR_037714.1 non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.450A>G NA NM_002878.3 missense_variant NM_002878.3:c.698A>G NP_002869.3:p.Glu233Gly RAD51D RAD51D 17 33428338 G/A 0 NR_037714.1 non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.537C>T NA NM_002878.3 missense_variant NM_002878.3:c.785C>T NP_002869.3:p.Pro262Leu RAD51D RAD51D 17 33430546 T/A 0 NR_037714.1 non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.346A>T NA NM_002878.3 synonymous_variant NM_002878.3:c.594A>T NP_002869.3:p.Gly198%3D RAD51D RAD51D 17 33430316 C/T 0.48 NR_037714.1 non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.447G>A NA NM_002878.3 missense_variant NM_002878.3:c.695G>A NP_002869.3:p.Arg232Gln RAD51D RAD51D 17 33428320 C/T 0 NR_037714.1 non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.555G>A NA NM_002878.3 stop_gained NM_002878.3:c.803G>A NP_002869.3:p.Trp268Ter RAD51D NF1 17 29586049 G/A 0 NM_001042492.2 splice_acceptor_variant NM_001042492.2:c.4333-1G>A NA NM_000267.3 splice_acceptor_variant NM_000267.3:c.4270-1G>A NA NF1 RAD51C 17 56787218 A/G 0 NM_058216.2 splice_acceptor_variant NM_058216.2:c.706-2A>G NA NM_058216.2 splice_acceptor_variant NM_058216.2:c.706-2A>G NA RAD51C FANCL 2 58453921 T/C 0 NM_001114636.1 splice_acceptor_variant NM_001114636.1:c.217-2A>G NA NM_018062.3 splice_acceptor_variant NM_018062.3:c.217-2A>G NA FANCL BRCA2 13 32936658 A/T 0 NM_000059.3 splice_acceptor_variant NM_000059.3:c.7806-2A>T NA NM_000059.3 splice_acceptor_variant NM_000059.3:c.7806-2A>T NA BRCA2 SBDS 7 66456289 C/T 0 NM_016038.2 splice_acceptor_variant NM_016038.2:c.460-1G>A NA NM_016038.2 splice_acceptor_variant NM_016038.2:c.460-1G>A NA SBDS WRN 8 31000141 G/A 0 NM_000553.4 splice_acceptor_variant NM_000553.4:c.3234-1G>A NA NM_000553.4 splice_acceptor_variant NM_000553.4:c.3234-1G>A NA WRN TSC2 16 2115518 AG/A 0 NM_000548.3 splice_acceptor_variant NM_000548.3:c.1600delG NP_000539.2:p.Val534Ter NM_000548.3 splice_acceptor_variant NM_000548.3:c.1600delG NP_000539.2:p.Val534Ter TSC2 FANCC 9 98009800 T/C 0 NM_000136.2 splice_acceptor_variant NM_000136.2:c.166-2A>G NA NM_000136.2 splice_acceptor_variant NM_000136.2:c.166-2A>G NA FANCC BRCA1 17 41256279 C/G 0 NM_007300.3 splice_acceptor_variant NM_007300.3:c.302-1G>C NA NM_007294.3 splice_acceptor_variant NM_007294.3:c.302-1G>C NA BRCA1 ERCC2 19 45867379 T/C 0 NM_000400.3 splice_acceptor_variant NM_000400.3:c.816-2A>G NA NM_000400.3 splice_acceptor_variant NM_000400.3:c.816-2A>G NA ERCC2 EXT2 11 44228342 G/C 0 NM_000401.3 splice_acceptor_variant NM_000401.3:c.1595-1G>C NA NM_207122.1 splice_acceptor_variant NM_207122.1:c.1496-1G>C NA EXT2 FANCA 16 89825115 A/A 0 NM_000135.2 splice_acceptor_variant NM_000135.2:c.2853-2A>T NA NM_000135.2 splice_acceptor_variant NM_000135.2:c.2853-2A>T NA FANCA BAP1 3 52440267 A/G 0 NM_004656.3 splice_donor_variant NM_004656.3:c.783+2T>C NA NM_004656.3 splice_donor_variant NM_004656.3:c.783+2T>C NA BAP1 BRCA2 13 32969071 G/A 0 NM_000059.3 splice_donor_variant NM_000059.3:c.9501+1G>A NA NM_000059.3 splice_donor_variant NM_000059.3:c.9501+1G>A NA BRCA2 ATM 11 108172518 T/C 0 NM_000051.3 splice_donor_variant NM_000051.3:c.5319+2T>C NA NM_000051.3 splice_donor_variant NM_000051.3:c.5319+2T>C NA ATM FANCM 14 45650909 G/A 0 NM_020937.2 splice_donor_variant NM_020937.2:c.4386+1G>A NA NM_020937.2 splice_donor_variant NM_020937.2:c.4386+1G>A NA FANCM BRIP1 17 59876460 C/A 0 NM_032043.2 splice_donor_variant NM_032043.2:c.1340+1G>T NA NM_032043.2 splice_donor_variant NM_032043.2:c.1340+1G>T NA BRIP1 SBDS 7 66459197 A/G 0.16 NM_016038.2 splice_donor_variant NM_016038.2:c.258+2T>C NA NM_016038.2 splice_donor_variant NM_016038.2:c.258+2T>C NA SBDS FANCM 14 45650910 T/G 0 NM_020937.2 splice_donor_variant NM_020937.2:c.4386+2T>G NA NM_020937.2 splice_donor_variant NM_020937.2:c.4386+2T>G NA FANCM TSC2 16 2134717 G/A 0 NM_000548.3 splice_donor_variant NM_000548.3:c.4493+1G>A NA NM_000548.3 splice_donor_variant NM_000548.3:c.4493+1G>A NA TSC2 TSC1 9 135779797 C/G 0 NM_000368.4 splice_donor_variant NM_000368.4:c.2041+1G>C NA NM_000368.4 splice_donor_variant NM_000368.4:c.2041+1G>C NA TSC1 TSC2 16 2108876 T/C 0 NM_000548.3 splice_donor_variant NM_000548.3:c.975+2T>C NA NM_000548.3 splice_donor_variant NM_000548.3:c.975+2T>C NA TSC2 BRCA1 17 41243451 C/T 0 NM_007300.3 splice_donor_variant NM_007300.3:c.4096+1G>A NA NM_007294.3 splice_donor_variant NM_007294.3:c.4096+1G>A NA BRCA1 PMS2 7 6045522 C/A 0 NM_000535.5 splice_donor_variant NM_000535.5:c.163+1G>T NA NM_000535.5 splice_donor_variant NM_000535.5:c.163+1G>T NA PMS2 TSC1 9 135797205 C/A 0 NM_000368.4 splice_donor_variant NM_000368.4:c.663+1G>T NA NM_000368.4 splice_donor_variant NM_000368.4:c.663+1G>T NA TSC1 FANCD2 3 10115048 T/G 0 NM_033084.3 splice_donor_variant NM_033084.3:c.2715+2T>G NA NM_033084.3 splice_donor_variant NM_033084.3:c.2715+2T>G NA FANCD2 BIVM-ERCC5,ERCC5 13 103520608 G/A 0 NM_001204425.1 splice_donor_variant NM_001204425.1:c.4040+1G>A NA NM_000123.3 splice_donor_variant NM_000123.3:c.2678+1G>A NA ERCC5 NF1 17 29686034 G/A 0 NM_001042492.2 splice_donor_variant NM_001042492.2:c.8160+1G>A NA NM_000267.3 splice_donor_variant NM_000267.3:c.8097+1G>A NA NF1 EPCAM 2 47607106 CTGG/C 0 NM_002354.2 splice_donor_variant,coding_sequence_variant NM_002354.2:c.858+1_858+3delGTG NA NM_002354.2 splice_donor_variant&coding_sequence_variant NM_002354.2:c.858+1_858+3delGTG NA EPCAM FANCD2 3 10088406 TAGTA/T 0 NM_033084.3 splice_donor_variant,coding_sequence_variant,intron_variant NM_033084.3:c.1278+3_1278+6delAAGT NA NM_033084.3 splice_donor_variant&coding_sequence_variant&intron_variant NM_033084.3:c.1278+3_1278+6delAAGT NA FANCD2 MSH6 2 48033791 GTAAC/G 0 NM_000179.2 splice_donor_variant,intron_variant NM_000179.2:c.4001+12_4001+15delACTA NA NM_000179.2 splice_donor_variant&intron_variant NM_000179.2:c.4001+12_4001+15delACTA NA MSH6 FANCD2 3 10088412 G/T 0 NM_033084.3 splice_region_variant,intron_variant NM_033084.3:c.1278+5G>T NA NM_033084.3 splice_region_variant&intron_variant NM_033084.3:c.1278+5G>T NA FANCD2 FANCD2 3 10089738 A/G 0 NM_033084.3 splice_region_variant,intron_variant NM_033084.3:c.1413+3A>G NA NM_033084.3 splice_region_variant&intron_variant NM_033084.3:c.1413+3A>G NA FANCD2 MSH2 2 47690162 G/T 0.1 NM_000251.2 splice_region_variant,intron_variant NM_000251.2:c.1387-8G>T NA NM_000251.2 splice_region_variant&intron_variant NM_000251.2:c.1387-8G>T NA MSH2 ATM,C11ORF65 11 108224615 A/C 1.24 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.8786+8A>C NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.8786+8A>C NA ATM ATM 11 108175394 T/C 1.32 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.5497-8T>C NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.5497-8T>C NA ATM PMS2 7 6022629 G/A 12.8 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.2007-7C>T NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.2007-7C>T NA PMS2 ALK 2 29416794 G/A 16.09 NM_004304.4 splice_region_variant,intron_variant NM_004304.4:c.4165-6C>T NA NM_004304.4 splice_region_variant&intron_variant NM_004304.4:c.4165-6C>T NA ALK ALK 2 29446202 G/A 17.65 NM_004304.4 splice_region_variant,intron_variant NM_004304.4:c.3359+6C>T NA NM_004304.4 splice_region_variant&intron_variant NM_004304.4:c.3359+6C>T NA ALK HNF1A 12 121435475 G/A 35.96 NM_000545.5 splice_region_variant,intron_variant NM_000545.5:c.1501+7G>A NA NM_000545.5 splice_region_variant&intron_variant NM_000545.5:c.1501+7G>A NA HNF1A WRN 8 30999122 T/T 37.5 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.3138+6C>T NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.3138+6C>T NA WRN XPC 3 14190237 T/G 32.03 NM_004628.4 splice_region_variant,intron_variant NM_004628.4:c.2251-6A>C NA NM_004628.4 splice_region_variant&intron_variant NM_004628.4:c.2251-6A>C NA XPC CDH1 16 68771372 T/T 23.66 NM_004360.3 splice_region_variant,intron_variant NM_004360.3:c.48+6C>T NA NM_004360.3 splice_region_variant&intron_variant NM_004360.3:c.48+6C>T NA CDH1 ERCC4 16 14026007 A/A 5.35 NM_005236.2 splice_region_variant,intron_variant NM_005236.2:c.974-7G>A NA NM_005236.2 splice_region_variant&intron_variant NM_005236.2:c.974-7G>A NA ERCC4 PMS2 7 6026384 C/T 11.04 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.2006+6G>A NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.2006+6G>A NA PMS2 FANCA 16 89838078 A/G 44.01 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.2151+8T>C NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.2151+8T>C NA FANCA WRN 8 30999123 G/A 49.48 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.3138+7G>A NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.3138+7G>A NA WRN WRN 8 30999122 C/T 37.5 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.3138+6C>T NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.3138+6C>T NA WRN XPC 3 14190237 G/G 32.03 NM_004628.4 splice_region_variant,intron_variant NM_004628.4:c.2251-6A>C NA NM_004628.4 splice_region_variant&intron_variant NM_004628.4:c.2251-6A>C NA XPC BRIP1 17 59761504 A/C 0 NM_032043.2 splice_region_variant,intron_variant NM_032043.2:c.2906-3T>G NA NM_032043.2 splice_region_variant&intron_variant NM_032043.2:c.2906-3T>G NA BRIP1 MSH2 2 47703500 T/C 13.2 NM_000251.2 splice_region_variant,intron_variant NM_000251.2:c.2006-6T>C NA NM_000251.2 splice_region_variant&intron_variant NM_000251.2:c.2006-6T>C NA MSH2 NBN 8 90958530 T/C 37.9 NM_002485.4 splice_region_variant,intron_variant NM_002485.4:c.1915-7A>G NA NM_002485.4 splice_region_variant&intron_variant NM_002485.4:c.1915-7A>G NA NBN ALK 2 29446202 A/A 17.65 NM_004304.4 splice_region_variant,intron_variant NM_004304.4:c.3359+6C>T NA NM_004304.4 splice_region_variant&intron_variant NM_004304.4:c.3359+6C>T NA ALK FLCN 17 17122327 G/A 49.7 NM_144997.5 splice_region_variant,intron_variant NM_144997.5:c.1062+6C>T NA NM_144997.5 splice_region_variant&intron_variant NM_144997.5:c.1062+6C>T NA FLCN CDH1 16 68771372 C/T 23.66 NM_004360.3 splice_region_variant,intron_variant NM_004360.3:c.48+6C>T NA NM_004360.3 splice_region_variant&intron_variant NM_004360.3:c.48+6C>T NA CDH1 EZH2 7 148506396 A/C 5.05 NM_004456.4 splice_region_variant,intron_variant NM_004456.4:c.2110+6T>G NA NM_004456.4 splice_region_variant&intron_variant NM_004456.4:c.2110+6T>G NA EZH2 FANCM 14 45654410 TCTTA/T 0 NM_020937.2 splice_region_variant,intron_variant NM_020937.2:c.4516-5_4516-2delCTTA NA NM_020937.2 splice_region_variant&intron_variant NM_020937.2:c.4516-5_4516-2delCTTA NA FANCM NBN 8 90958530 C/C 37.9 NM_002485.4 splice_region_variant,intron_variant NM_002485.4:c.1915-7A>G NA NM_002485.4 splice_region_variant&intron_variant NM_002485.4:c.1915-7A>G NA NBN FANCA 16 89838078 G/G 44.01 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.2151+8T>C NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.2151+8T>C NA FANCA MUTYH 1 45800190 C/T 0 NM_001128425.1 splice_region_variant,intron_variant NM_001128425.1:c.37-7G>A NA NM_001048172.1 splice_region_variant&intron_variant NM_001048172.1:c.-6-7G>A NA MUTYH BLM 15 91312823 T/C 36.66 NM_000057.2 splice_region_variant,intron_variant NM_000057.2:c.2555+7T>C NA NM_000057.2 splice_region_variant&intron_variant NM_000057.2:c.2555+7T>C NA BLM HNF1A 12 121435475 A/A 35.96 NM_000545.5 splice_region_variant,intron_variant NM_000545.5:c.1501+7G>A NA NM_000545.5 splice_region_variant&intron_variant NM_000545.5:c.1501+7G>A NA HNF1A WRN 8 30999123 A/A 49.48 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.3138+7G>A NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.3138+7G>A NA WRN TSC2 16 2105400 C/T 9.2 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.482-3C>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.482-3C>T NA TSC2 PMS2 7 6022626 C/T 16.27 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.2007-4G>A NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.2007-4G>A NA PMS2 BLM 15 91312823 C/C 36.66 NM_000057.2 splice_region_variant,intron_variant NM_000057.2:c.2555+7T>C NA NM_000057.2 splice_region_variant&intron_variant NM_000057.2:c.2555+7T>C NA BLM STK11 19 1222012 G/C 17.05 NM_000455.4 splice_region_variant,intron_variant NM_000455.4:c.920+7G>C NA NM_000455.4 splice_region_variant&intron_variant NM_000455.4:c.920+7G>C NA STK11 PMS1 2 190660683 G/A 2 NM_000534.4 splice_region_variant,intron_variant NM_000534.4:c.315+6G>A NA NM_000534.4 splice_region_variant&intron_variant NM_000534.4:c.315+6G>A NA PMS1 TSC2 16 2105400 T/T 9.2 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.482-3C>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.482-3C>T NA TSC2 FLCN 17 17122327 A/A 49.7 NM_144997.5 splice_region_variant,intron_variant NM_144997.5:c.1062+6C>T NA NM_144997.5 splice_region_variant&intron_variant NM_144997.5:c.1062+6C>T NA FLCN PMS2 7 6037057 GAA/G 0 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.706-4delT NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.706-4dupT NA PMS2 EXT2 11 44117876 G/A 1.12 NM_000401.3 splice_region_variant,intron_variant NM_000401.3:c.69+5G>A NA NM_207122.1 intron_variant NM_207122.1:c.-31+474G>A NA EXT2 FANCD2 3 10106408 C/T 0 NM_033084.3 splice_region_variant,intron_variant NM_033084.3:c.2022-5C>T NA NM_033084.3 splice_region_variant&intron_variant NM_033084.3:c.2022-5C>T NA FANCD2 KIT 4 55524252 G/A 0.94 NM_000222.2 splice_region_variant,intron_variant NM_000222.2:c.67+4G>A NA NM_000222.2 splice_region_variant&intron_variant NM_000222.2:c.67+4G>A NA KIT ERCC4 16 14026007 G/A 5.35 NM_005236.2 splice_region_variant,intron_variant NM_005236.2:c.974-7G>A NA NM_005236.2 splice_region_variant&intron_variant NM_005236.2:c.974-7G>A NA ERCC4 EGFR 7 55214295 G/A 0.04 NM_005228.3 splice_region_variant,intron_variant NM_005228.3:c.425-4G>A NA NM_005228.3 splice_region_variant&intron_variant NM_005228.3:c.425-4G>A NA EGFR BLM 15 91354640 T/G 0.14 NM_000057.2 splice_region_variant,intron_variant NM_000057.2:c.4076+4T>G NA NM_000057.2 splice_region_variant&intron_variant NM_000057.2:c.4076+4T>G NA BLM NF2 22 30077423 G/A 0.04 NM_000268.3 splice_region_variant,intron_variant NM_000268.3:c.1575-5G>A NA NM_000268.3 splice_region_variant&intron_variant NM_000268.3:c.1575-5G>A NA NF2 FANCA 16 89831481 CAG/C 0 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.2602-9_2602-8delCT NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.2602-9_2602-8delCT NA FANCA EPCAM 2 47604148 T/C 1.02 NM_002354.2 splice_region_variant,intron_variant NM_002354.2:c.492-5T>C NA NM_002354.2 splice_region_variant&intron_variant NM_002354.2:c.492-5T>C NA EPCAM ALK 2 29416794 A/A 16.09 NM_004304.4 splice_region_variant,intron_variant NM_004304.4:c.4165-6C>T NA NM_004304.4 splice_region_variant&intron_variant NM_004304.4:c.4165-6C>T NA ALK TSC1 9 135773000 GAAA/G 0 NM_000368.4 splice_region_variant,intron_variant NM_000368.4:c.2626-4delT NA NM_000368.4 splice_region_variant&intron_variant NM_000368.4:c.2626-4_2626-3insTT NA TSC1 WRN 8 30946403 C/A 7.47 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.1577-3C>A NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.1577-3C>A NA WRN FANCI 15 89848645 G/GT 0 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.3255+6dupT NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.3255+6dupT NA FANCI PMS2 7 6043314 G/T 0 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.353+7C>A NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.353+7C>A NA PMS2 ERCC4 16 14026008 T/C 0.1 NM_005236.2 splice_region_variant,intron_variant NM_005236.2:c.974-6T>C NA NM_005236.2 splice_region_variant&intron_variant NM_005236.2:c.974-6T>C NA ERCC4 NF1 17 29554312 A/G 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.2325+3A>G NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.2325+3A>G NA NF1 NF1 17 29560017 T/C 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.3497-3T>C NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.3497-3T>C NA NF1 CHEK2 22 29091238 T/A 0 NM_001005735.1 splice_region_variant,intron_variant NM_001005735.1:c.1389-8A>T NA NM_007194.3 splice_region_variant&intron_variant NM_007194.3:c.1260-8A>T NA CHEK2 STK11 19 1222012 C/C 17.05 NM_000455.4 splice_region_variant,intron_variant NM_000455.4:c.920+7G>C NA NM_000455.4 splice_region_variant&intron_variant NM_000455.4:c.920+7G>C NA STK11 FANCA 16 89816314 A/G 7.17 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.3067-4T>C NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.3067-4T>C NA FANCA FANCA 16 89828437 A/G 7.21 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.2779-7T>C NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.2779-7T>C NA FANCA FANCA 16 89862434 T/C 7.55 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.894-8A>G NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.894-8A>G NA FANCA MSH2 2 47703500 C/C 13.2 NM_000251.2 splice_region_variant,intron_variant NM_000251.2:c.2006-6T>C NA NM_000251.2 splice_region_variant&intron_variant NM_000251.2:c.2006-6T>C NA MSH2 SLX4 16 3644605 A/G 0 NM_032444.2 splice_region_variant,intron_variant NM_032444.2:c.2014-5T>C NA NM_032444.2 splice_region_variant&intron_variant NM_032444.2:c.2014-5T>C NA SLX4 FANCM 14 45654410 T/T 0 NM_020937.2 splice_region_variant,intron_variant NM_020937.2:c.4516-5_4516-2delCTTA NA NM_020937.2 splice_region_variant&intron_variant NM_020937.2:c.4516-5_4516-2delCTTA NA FANCM DICER1 14 95574653 ATACC/A 0 NM_177438.2 splice_region_variant,intron_variant NM_177438.2:c.2436+4_2436+7delGGTA NA NM_177438.2 splice_region_variant&intron_variant NM_177438.2:c.2436+4_2436+7delGGTA NA DICER1 PTCH1 9 98239147 A/G 10.5 NM_000264.3 splice_region_variant,intron_variant NM_000264.3:c.1504-8T>C NA NM_000264.3 splice_region_variant&intron_variant NM_000264.3:c.1504-8T>C NA PTCH1 ERCC3 2 128047084 G/C 0 NM_000122.1 splice_region_variant,intron_variant NM_000122.1:c.658-7C>G NA NM_000122.1 splice_region_variant&intron_variant NM_000122.1:c.658-7C>G NA ERCC3 PMS2 7 6022626 T/T 16.27 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.2007-4G>A NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.2007-4G>A NA PMS2 XPA 9 100456045 C/CA 0 NM_000380.3 splice_region_variant,intron_variant NM_000380.3:c.173-5dupT NA NM_000380.3 splice_region_variant&intron_variant NM_000380.3:c.173-5dupT NA XPA EXT1 8 118831908 C/T 0.48 NM_000127.2 splice_region_variant,intron_variant NM_000127.2:c.1536+7G>A NA NM_000127.2 splice_region_variant&intron_variant NM_000127.2:c.1536+7G>A NA EXT1 RAD51C 17 56780693 A/G 0 NM_058216.2 splice_region_variant,intron_variant NM_058216.2:c.705+3A>G NA NM_058216.2 splice_region_variant&intron_variant NM_058216.2:c.705+3A>G NA RAD51C NBN 8 90994946 A/G 0 NM_002485.4 splice_region_variant,intron_variant NM_002485.4:c.171+4T>C NA NM_002485.4 splice_region_variant&intron_variant NM_002485.4:c.171+4T>C NA NBN VHL 3 10188193 G/A 0 NM_000551.3 splice_region_variant,intron_variant NM_000551.3:c.341-5G>A NA NM_000551.3 splice_region_variant&intron_variant NM_000551.3:c.341-5G>A NA VHL EZH2 7 148506396 C/C 5.05 NM_004456.4 splice_region_variant,intron_variant NM_004456.4:c.2110+6T>G NA NM_004456.4 splice_region_variant&intron_variant NM_004456.4:c.2110+6T>G NA EZH2 EXT1 8 119122312 CCAGA/C 0 NM_000127.2 splice_region_variant,intron_variant NM_000127.2:c.962+8_962+11delTCTG NA NM_000127.2 splice_region_variant&intron_variant NM_000127.2:c.962+8_962+11delTCTG NA EXT1 RET 10 43610187 G/A 0 NM_020975.4 splice_region_variant,intron_variant NM_020975.4:c.2136+3G>A NA NM_020975.4 splice_region_variant&intron_variant NM_020975.4:c.2136+3G>A NA RET NF2 22 30069483 G/T 0 NM_000268.3 splice_region_variant,intron_variant NM_000268.3:c.1340+8G>T NA NM_000268.3 splice_region_variant&intron_variant NM_000268.3:c.1340+8G>T NA NF2 SMAD4 18 48575235 G/A 0.02 NM_005359.5 splice_region_variant,intron_variant NM_005359.5:c.424+5G>A NA NM_005359.5 splice_region_variant&intron_variant NM_005359.5:c.424+5G>A NA SMAD4 FANCI 15 89848480 T/TG 0 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.3186+7_3186+8insG NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.3186+7_3186+8insG NA FANCI FANCM 14 45650629 A/G 0.04 NM_020937.2 splice_region_variant,intron_variant NM_020937.2:c.4223-4A>G NA NM_020937.2 splice_region_variant&intron_variant NM_020937.2:c.4223-4A>G NA FANCM AIP 11 67254471 C/A 0.04 NM_003977.2 splice_region_variant,intron_variant NM_003977.2:c.100-6C>A NA NM_003977.2 splice_region_variant&intron_variant NM_003977.2:c.100-6C>A NA AIP CDH1 16 68867187 C/G 0.08 NM_004360.3 splice_region_variant,intron_variant NM_004360.3:c.2440-6C>G NA NM_004360.3 splice_region_variant&intron_variant NM_004360.3:c.2440-6C>G NA CDH1 MLH1 3 37067120 T/TTTTTTTA 0 NM_000249.3 splice_region_variant,intron_variant NM_000249.3:c.1039-8_1039-7insTTTTTTA NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.1039-8_1039-7insTTTTTTA NA MLH1 TSC1 9 135773000 GAA/G 0 NM_000368.4 splice_region_variant,intron_variant NM_000368.4:c.2626-4delT NA NM_000368.4 splice_region_variant&intron_variant NM_000368.4:c.2626-4dupT NA TSC1 GPC3 X 132888207 TAA/T 0 NM_001164617.1 splice_region_variant,intron_variant NM_001164617.1:c.338-5delT NA NM_004484.3 splice_region_variant&intron_variant NM_004484.3:c.338-5dupT NA GPC3 DDB2 11 47236819 T/G 0.06 NM_000107.2 splice_region_variant,intron_variant NM_000107.2:c.127+5T>G NA NM_000107.2 splice_region_variant&intron_variant NM_000107.2:c.127+5T>G NA DDB2 MLH1 3 37067120 T/A 0 NM_000249.3 splice_region_variant,intron_variant NM_000249.3:c.1039-8T>A NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.1039-8T>A NA MLH1 TSC2 16 2137857 C/T 0.88 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.4990-7C>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.4990-7C>T NA TSC2 RET 10 43606650 C/T 2.99 NM_020975.4 splice_region_variant,intron_variant NM_020975.4:c.1264-5C>T NA NM_020975.4 splice_region_variant&intron_variant NM_020975.4:c.1264-5C>T NA RET NF1 17 29554316 C/T 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.2325+7C>T NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.2325+7C>T NA NF1 FANCI 15 89821910 C/T 3.29 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.1294-8C>T NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.1294-8C>T NA FANCI FANCI 15 89805046 T/G 0 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.446-6T>G NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.446-6T>G NA FANCI PMS2 7 6022629 A/A 12.8 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.2007-7C>T NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.2007-7C>T NA PMS2 DICER1 14 95584095 A/C 0.18 NM_177438.2 splice_region_variant,intron_variant NM_177438.2:c.1377-4T>G NA NM_177438.2 splice_region_variant&intron_variant NM_177438.2:c.1377-4T>G NA DICER1 FANCI 15 89828320 C/A 0.76 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.1699-7C>A NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.1699-7C>A NA FANCI FANCA 16 89836440 G/A 0 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.2317-8C>T NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.2317-8C>T NA FANCA FANCD2 3 10106409 G/A 0 NM_033084.3 splice_region_variant,intron_variant NM_033084.3:c.2022-4G>A NA NM_033084.3 splice_region_variant&intron_variant NM_033084.3:c.2022-4G>A NA FANCD2 PTCH1 9 98218700 A/G 0.1 NM_000264.3 splice_region_variant,intron_variant NM_000264.3:c.3169-5T>C NA NM_000264.3 splice_region_variant&intron_variant NM_000264.3:c.3169-5T>C NA PTCH1 NF1 17 29559710 T/C 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.3315-8T>C NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.3315-8T>C NA NF1 MET 7 116423528 T/C 0 NM_001127500.1 splice_region_variant,intron_variant NM_001127500.1:c.3852+5T>C NA NM_000245.2 splice_region_variant&intron_variant NM_000245.2:c.3798+5T>C NA MET GPC3 X 132670324 GTCAA/G 0 NM_001164617.1 splice_region_variant,intron_variant NM_001164617.1:c.1643-7_1643-4delTTGA NA NM_004484.3 splice_region_variant&intron_variant NM_004484.3:c.1574-7_1574-4delTTGA NA GPC3 DDB2 11 47238031 A/G 0 NM_000107.2 splice_region_variant,intron_variant NM_000107.2:c.264+8A>G NA NM_000107.2 splice_region_variant&intron_variant NM_000107.2:c.264+8A>G NA DDB2 TSC2 16 2137859 G/A 0 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.4990-5G>A NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.4990-5G>A NA TSC2 WRN 8 30921954 G/C 0.06 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.355+4G>C NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.355+4G>C NA WRN BRIP1 17 59937272 T/A 0 NM_032043.2 splice_region_variant,intron_variant NM_032043.2:c.94-4A>T NA NM_032043.2 splice_region_variant&intron_variant NM_032043.2:c.94-4A>T NA BRIP1 PMS2 7 6026384 T/T 11.04 NM_000535.5 splice_region_variant,intron_variant NM_000535.5:c.2006+6G>A NA NM_000535.5 splice_region_variant&intron_variant NM_000535.5:c.2006+6G>A NA PMS2 NSD1 5 176671188 A/G 0 NM_022455.4 splice_region_variant,intron_variant NM_022455.4:c.4303-8A>G NA NM_022455.4 splice_region_variant&intron_variant NM_022455.4:c.4303-8A>G NA NSD1 MLH1 3 37067120 T/TTTTTTA 0 NM_000249.3 splice_region_variant,intron_variant NM_000249.3:c.1039-8_1039-7insTTTTTA NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.1039-8_1039-7insTTTTTA NA MLH1 BRIP1 17 59853755 C/T 0.22 NM_032043.2 splice_region_variant,intron_variant NM_032043.2:c.2097+7G>A NA NM_032043.2 splice_region_variant&intron_variant NM_032043.2:c.2097+7G>A NA BRIP1 ALK 2 29606728 G/A 0 NM_004304.4 splice_region_variant,intron_variant NM_004304.4:c.1155-3C>T NA NM_004304.4 splice_region_variant&intron_variant NM_004304.4:c.1155-3C>T NA ALK CHEK2 22 29120962 T/A 0 NM_001005735.1 splice_region_variant,intron_variant NM_001005735.1:c.721+3A>T NA NM_007194.3 splice_region_variant&intron_variant NM_007194.3:c.592+3A>T NA CHEK2 NF1 17 29557945 T/TA 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.3197+9dupA NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.3197+9dupA NA NF1 BMPR1A 10 88676885 A/C 0.02 NM_004329.2 splice_region_variant,intron_variant NM_004329.2:c.676-6A>C NA NM_004329.2 splice_region_variant&intron_variant NM_004329.2:c.676-6A>C NA BMPR1A ATM 11 108160535 A/G 0 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.4436+7A>G NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.4436+7A>G NA ATM MLH1 3 37067120 T/TTTTTTTTA 0 NM_000249.3 splice_region_variant,intron_variant NM_000249.3:c.1039-8_1039-7insTTTTTTTA NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.1039-8_1039-7insTTTTTTTA NA MLH1 PALB2 16 23625415 T/C 0 NM_024675.3 splice_region_variant,intron_variant NM_024675.3:c.3114-3A>G NA NM_024675.3 splice_region_variant&intron_variant NM_024675.3:c.3114-3A>G NA PALB2 PMS1 2 190738386 C/T 0.08 NM_000534.4 splice_region_variant,intron_variant NM_000534.4:c.2634+4C>T NA NM_000534.4 splice_region_variant&intron_variant NM_000534.4:c.2634+4C>T NA PMS1 TSC2 16 2134221 C/T 0.16 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.4006-8C>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.4006-8C>T NA TSC2 ATM,C11ORF65 11 108202772 G/T 0.08 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.7788+8G>T NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.7788+8G>T NA ATM BIVM-ERCC5,ERCC5 13 103504650 G/A 6.91 NM_001204425.1 splice_region_variant,intron_variant NM_001204425.1:c.1626+7G>A NA NM_000123.3 splice_region_variant&intron_variant NM_000123.3:c.264+7G>A NA ERCC5 VHL 3 10183876 G/C 2.14 NM_000551.3 splice_region_variant,intron_variant NM_000551.3:c.340+5G>C NA NM_000551.3 splice_region_variant&intron_variant NM_000551.3:c.340+5G>C NA VHL FANCI 15 89850836 T/C 0.04 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.3592-8T>C NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.3592-8T>C NA FANCI FANCB X 14876078 T/TAATA 0 NM_152633.2 splice_region_variant,intron_variant NM_152633.2:c.1105-6_1105-3dupTATT NA NM_152633.2 splice_region_variant&intron_variant NM_152633.2:c.1105-6_1105-3dupTATT NA FANCB FANCA 16 89815060 C/A 0.02 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.3348+7G>T NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.3348+7G>T NA FANCA KIT 4 55592016 C/A 0 NM_000222.2 splice_region_variant,intron_variant NM_000222.2:c.1347-7C>A NA NM_000222.2 splice_region_variant&intron_variant NM_000222.2:c.1347-7C>A NA KIT NF1 17 29550590 G/A 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.1845+5G>A NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.1845+5G>A NA NF1 NF1 17 29550592 A/G 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.1845+7A>G NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.1845+7A>G NA NF1 MLH1 3 37067120 T/TTTTTA 0 NM_000249.3 splice_region_variant,intron_variant NM_000249.3:c.1039-8_1039-7insTTTTA NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.1039-8_1039-7insTTTTA NA MLH1 FANCI 15 89811622 T/C 0 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.756-8T>C NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.756-8T>C NA FANCI TSC2 16 2132510 C/T 0 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.3883+5C>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.3883+5C>T NA TSC2 PALB2 16 23646176 GA/G 0 NM_024675.3 splice_region_variant,intron_variant NM_024675.3:c.1684+6delT NA NM_024675.3 splice_region_variant&intron_variant NM_024675.3:c.1684+6delT NA PALB2 WT1 11 32450170 G/A 0 NM_024426.4 splice_region_variant,intron_variant NM_024426.4:c.647-5C>T NA NM_024426.4 splice_region_variant&intron_variant NM_024426.4:c.647-5C>T NA WT1 NSD1 5 176684158 G/A 0 NM_022455.4 splice_region_variant,intron_variant NM_022455.4:c.4966+6G>A NA NM_022455.4 splice_region_variant&intron_variant NM_022455.4:c.4966+6G>A NA NSD1 RECQL4 8 145742156 G/A 0 NM_004260.3 splice_region_variant,intron_variant NM_004260.3:c.355-8C>T NA NM_004260.3 splice_region_variant&intron_variant NM_004260.3:c.355-8C>T NA RECQL4 CEP57 11 95532388 T/A 0 NM_014679.4 splice_region_variant,intron_variant NM_014679.4:c.46-8T>A NA NM_014679.4 splice_region_variant&intron_variant NM_014679.4:c.46-8T>A NA CEP57 BRCA2 13 32893207 T/A 0.12 NM_000059.3 splice_region_variant,intron_variant NM_000059.3:c.68-7T>A NA NM_000059.3 splice_region_variant&intron_variant NM_000059.3:c.68-7T>A NA BRCA2 WRN 8 31001144 A/C 0 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.3383+5A>C NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.3383+5A>C NA WRN NF1 17 29585351 CTTG/C 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.4174-8_4174-6delGTT NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.4111-8_4111-6delGTT NA NF1 ATM,C11ORF65 11 108224615 C/C 1.24 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.8786+8A>C NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.8786+8A>C NA ATM SMARCB1 22 24135739 G/A 0 NM_003073.3 splice_region_variant,intron_variant NM_003073.3:c.233-7G>A NA NM_003073.3 splice_region_variant&intron_variant NM_003073.3:c.233-7G>A NA SMARCB1 APC 5 112170870 T/C 1.96 NM_000038.5 splice_region_variant,intron_variant NM_000038.5:c.1958+8T>C NA NM_000038.5 splice_region_variant&intron_variant NM_000038.5:c.1958+8T>C NA APC FANCA 16 89836964 G/A 0 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.2222+8C>T NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.2222+8C>T NA FANCA FANCA 16 89836439 C/T 0 NM_000135.2 splice_region_variant,intron_variant NM_000135.2:c.2317-7G>A NA NM_000135.2 splice_region_variant&intron_variant NM_000135.2:c.2317-7G>A NA FANCA KIT 4 55524252 A/A 0.94 NM_000222.2 splice_region_variant,intron_variant NM_000222.2:c.67+4G>A NA NM_000222.2 splice_region_variant&intron_variant NM_000222.2:c.67+4G>A NA KIT FANCI 15 89838134 GTCTC/G 0 NM_001113378.1 splice_region_variant,intron_variant NM_001113378.1:c.2457-6_2457-3delCTCT NA NM_001113378.1 splice_region_variant&intron_variant NM_001113378.1:c.2457-6_2457-3delCTCT NA FANCI RB1 13 49047492 A/G 0 NM_000321.2 splice_region_variant,intron_variant NM_000321.2:c.2490-4A>G NA NM_000321.2 splice_region_variant&intron_variant NM_000321.2:c.2490-4A>G NA RB1 SLX4 16 3650977 T/C 0 NM_032444.2 splice_region_variant,intron_variant NM_032444.2:c.1163+3A>G NA NM_032444.2 splice_region_variant&intron_variant NM_032444.2:c.1163+3A>G NA SLX4 FANCM 14 45652970 A/G 0 NM_020937.2 splice_region_variant,intron_variant NM_020937.2:c.4387-7A>G NA NM_020937.2 splice_region_variant&intron_variant NM_020937.2:c.4387-7A>G NA FANCM NF1 17 29560239 A/C 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.3708+8A>C NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.3708+8A>C NA NF1 SMAD4 18 48586228 T/C 0 NM_005359.5 splice_region_variant,intron_variant NM_005359.5:c.905-8T>C NA NM_005359.5 splice_region_variant&intron_variant NM_005359.5:c.905-8T>C NA SMAD4 MET 7 116397485 T/A 0 NM_001127500.1 splice_region_variant,intron_variant NM_001127500.1:c.1863-6T>A NA NM_000245.2 splice_region_variant&intron_variant NM_000245.2:c.1863-6T>A NA MET WRN 8 30946403 A/A 7.47 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.1577-3C>A NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.1577-3C>A NA WRN TSC2 16 2127595 A/G 0.04 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.2838-4A>G NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.2838-4A>G NA TSC2 FH 1 241672089 T/C 0 NM_000143.3 splice_region_variant,intron_variant NM_000143.3:c.556-4A>G NA NM_000143.3 splice_region_variant&intron_variant NM_000143.3:c.556-4A>G NA FH FANCE 6 35420577 C/A 0.3 NM_021922.2 splice_region_variant,intron_variant NM_021922.2:c.248+7C>A NA NM_021922.2 splice_region_variant&intron_variant NM_021922.2:c.248+7C>A NA FANCE MET 7 116409690 TC/T 0 NM_001127500.1 splice_region_variant,intron_variant NM_001127500.1:c.2638-7delC NA NM_000245.2 splice_region_variant&intron_variant NM_000245.2:c.2584-7delC NA MET XPA 9 100455925 C/T 0 NM_000380.3 splice_region_variant,intron_variant NM_000380.3:c.283+6G>A NA NM_000380.3 splice_region_variant&intron_variant NM_000380.3:c.283+6G>A NA XPA APC 5 112170870 C/C 1.96 NM_000038.5 splice_region_variant,intron_variant NM_000038.5:c.1958+8T>C NA NM_000038.5 splice_region_variant&intron_variant NM_000038.5:c.1958+8T>C NA APC NF2 22 30051668 G/A 0 NM_000268.3 splice_region_variant,intron_variant NM_000268.3:c.599+3G>A NA NM_000268.3 splice_region_variant&intron_variant NM_000268.3:c.599+3G>A NA NF2 ERCC2 19 45860637 G/A 0.02 NM_000400.3 splice_region_variant,intron_variant NM_000400.3:c.1378-8C>T NA NM_000400.3 splice_region_variant&intron_variant NM_000400.3:c.1378-8C>T NA ERCC2 DDB2 11 47259380 T/A 0 NM_000107.2 splice_region_variant,intron_variant NM_000107.2:c.1024-8T>A NA NM_000107.2 splice_region_variant&intron_variant NM_000107.2:c.1024-8T>A NA DDB2 ATM,C11ORF65 11 108225607 G/C 0 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.8850+6G>C NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.8850+6G>C NA ATM FLCN 17 17124948 G/A 0 NM_144997.5 splice_region_variant,intron_variant NM_144997.5:c.780-6C>T NA NM_144997.5 splice_region_variant&intron_variant NM_144997.5:c.780-6C>T NA FLCN MET 7 116371715 A/T 0 NM_001127500.1 splice_region_variant,intron_variant NM_001127500.1:c.1201-7A>T NA NM_000245.2 splice_region_variant&intron_variant NM_000245.2:c.1201-7A>T NA MET EPCAM 2 47604148 C/C 1.02 NM_002354.2 splice_region_variant,intron_variant NM_002354.2:c.492-5T>C NA NM_002354.2 splice_region_variant&intron_variant NM_002354.2:c.492-5T>C NA EPCAM MET 7 116409696 C/A 0 NM_001127500.1 splice_region_variant,intron_variant NM_001127500.1:c.2638-3C>A NA NM_000245.2 splice_region_variant&intron_variant NM_000245.2:c.2584-3C>A NA MET MET 7 116339121 G/A 0.4 NM_001127500.1 splice_region_variant,intron_variant NM_001127500.1:c.-14-4G>A NA NM_000245.2 splice_region_variant&intron_variant NM_000245.2:c.-14-4G>A NA MET FANCC 9 97869555 G/C 0 NM_000136.2 splice_region_variant,intron_variant NM_000136.2:c.1330-4C>G NA NM_000136.2 splice_region_variant&intron_variant NM_000136.2:c.1330-4C>G NA FANCC HNF1A 12 121431317 C/T 0 NM_000545.5 splice_region_variant,intron_variant NM_000545.5:c.527-6C>T NA NM_000545.5 splice_region_variant&intron_variant NM_000545.5:c.527-6C>T NA HNF1A EXT2 11 44255660 G/A 0 NM_000401.3 splice_region_variant,intron_variant NM_000401.3:c.1906-5G>A NA NM_207122.1 splice_region_variant&intron_variant NM_207122.1:c.1807-5G>A NA EXT2 DICER1 14 95574434 A/T 0 NM_177438.2 splice_region_variant,intron_variant NM_177438.2:c.2437-4T>A NA NM_177438.2 splice_region_variant&intron_variant NM_177438.2:c.2437-4T>A NA DICER1 TSC2 16 2106776 G/T 0 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.774+6G>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.774+6G>T NA TSC2 MLH1 3 37067120 TTTTA/TTTTT 0 NM_000249.3 splice_region_variant,intron_variant NM_000249.3:c.1039-11_1039-8dupTTTT NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.1039-8_1039-7insTTTA NA MLH1 NBN 8 90990441 A/T 0 NM_002485.4 splice_region_variant,intron_variant NM_002485.4:c.584+7T>A NA NM_002485.4 splice_region_variant&intron_variant NM_002485.4:c.584+7T>A NA NBN PRKAR1A 17 66511531 G/C 0.02 NM_212471.2 splice_region_variant,intron_variant NM_212471.2:c.-6-4G>C NA NM_002734.4 splice_region_variant&intron_variant NM_002734.4:c.-6-4G>C NA PRKAR1A PTCH1 9 98242380 A/G 0.02 NM_000264.3 splice_region_variant,intron_variant NM_000264.3:c.946-8T>C NA NM_000264.3 splice_region_variant&intron_variant NM_000264.3:c.946-8T>C NA PTCH1 ATM 11 108142141 C/G 0 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.3077+8C>G NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.3077+8C>G NA ATM RAD51C 17 56798178 G/T 0 NM_058216.2 splice_region_variant,intron_variant NM_058216.2:c.904+5G>T NA NM_058216.2 splice_region_variant&intron_variant NM_058216.2:c.904+5G>T NA RAD51C SDHAF2 11 61213406 C/T 0 NM_017841.2 splice_region_variant,intron_variant NM_017841.2:c.371-7C>T NA NM_017841.2 splice_region_variant&intron_variant NM_017841.2:c.371-7C>T NA SDHAF2 RET 10 43606651 C/T 0 NM_020975.4 splice_region_variant,intron_variant NM_020975.4:c.1264-4C>T NA NM_020975.4 splice_region_variant&intron_variant NM_020975.4:c.1264-4C>T NA RET BRCA2 13 32900231 A/G 0 NM_000059.3 splice_region_variant,intron_variant NM_000059.3:c.426-7A>G NA NM_000059.3 splice_region_variant&intron_variant NM_000059.3:c.426-7A>G NA BRCA2 BRCA1 17 41256878 C/T 0 NM_007300.3 splice_region_variant,intron_variant NM_007300.3:c.301+7G>A NA NM_007294.3 splice_region_variant&intron_variant NM_007294.3:c.301+7G>A NA BRCA1 TMEM127 2 96920564 G/A 0.22 NM_017849.3 splice_region_variant,intron_variant NM_017849.3:c.409+7C>T NA NM_017849.3 splice_region_variant&intron_variant NM_017849.3:c.409+7C>T NA TMEM127 MSH2 2 47702411 T/TA 0 NM_000251.2 splice_region_variant,intron_variant NM_000251.2:c.2005+8dupA NA NM_000251.2 splice_region_variant&intron_variant NM_000251.2:c.2005+8dupA NA MSH2 ALK 2 29917887 T/C 0 NM_004304.4 splice_region_variant,intron_variant NM_004304.4:c.788-7A>G NA NM_004304.4 splice_region_variant&intron_variant NM_004304.4:c.788-7A>G NA ALK APC 5 112103091 A/G 0 NM_000038.5 splice_region_variant,intron_variant NM_000038.5:c.422+4A>G NA NM_000038.5 splice_region_variant&intron_variant NM_000038.5:c.422+4A>G NA APC WRN 8 30925768 T/C 0 NM_000553.4 splice_region_variant,intron_variant NM_000553.4:c.655-6T>C NA NM_000553.4 splice_region_variant&intron_variant NM_000553.4:c.655-6T>C NA WRN DICER1 14 95582162 A/G 0 NM_177438.2 splice_region_variant,intron_variant NM_177438.2:c.1753-4T>C NA NM_177438.2 splice_region_variant&intron_variant NM_177438.2:c.1753-4T>C NA DICER1 NF1 17 29559087 T/C 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.3198-4T>C NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.3198-4T>C NA NF1 FLCN 17 17118291 T/C 0 NM_144997.5 splice_region_variant,intron_variant NM_144997.5:c.1538+8A>G NA NM_144997.5 splice_region_variant&intron_variant NM_144997.5:c.1538+8A>G NA FLCN TSC2 16 2138147 G/C 0 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.5160+7G>C NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.5160+7G>C NA TSC2 EPCAM 2 47612299 A/G 1.06 NM_002354.2 splice_region_variant,intron_variant NM_002354.2:c.859-6A>G NA NM_002354.2 splice_region_variant&intron_variant NM_002354.2:c.859-6A>G NA EPCAM CYLD 16 50788342 T/C 0 NM_015247.2 splice_region_variant,intron_variant NM_015247.2:c.913+7T>C NA NM_001042412.1 splice_region_variant&intron_variant NM_001042412.1:c.913+7T>C NA CYLD GPC3 X 132670324 G/G 0 NM_001164617.1 splice_region_variant,intron_variant NM_001164617.1:c.1643-7_1643-4delTTGA NA NM_004484.3 splice_region_variant&intron_variant NM_004484.3:c.1574-7_1574-4delTTGA NA GPC3 NF1 17 29556849 T/A 0 NM_001042492.2 splice_region_variant,intron_variant NM_001042492.2:c.2851-4T>A NA NM_000267.3 splice_region_variant&intron_variant NM_000267.3:c.2851-4T>A NA NF1 TSC2 16 2137949 C/T 0 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.5068+7C>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.5068+7C>T NA TSC2 FANCM 14 45654582 T/C 0 NM_020937.2 splice_region_variant,intron_variant NM_020937.2:c.4672+6T>C NA NM_020937.2 splice_region_variant&intron_variant NM_020937.2:c.4672+6T>C NA FANCM SDHAF2 11 61205092 T/C 0 NM_017841.2 splice_region_variant,intron_variant NM_017841.2:c.37-5T>C NA NM_017841.2 splice_region_variant&intron_variant NM_017841.2:c.37-5T>C NA SDHAF2 PTCH1 9 98229390 C/T 0 NM_000264.3 splice_region_variant,intron_variant NM_000264.3:c.2560+8G>A NA NM_000264.3 splice_region_variant&intron_variant NM_000264.3:c.2560+8G>A NA PTCH1 FANCC 9 97897624 G/A 1.24 NM_000136.2 splice_region_variant,intron_variant NM_000136.2:c.843+4C>T NA NM_000136.2 splice_region_variant&intron_variant NM_000136.2:c.843+4C>T NA FANCC ATM 11 108143445 G/A 0.02 NM_000051.3 splice_region_variant,intron_variant NM_000051.3:c.3154-4G>A NA NM_000051.3 splice_region_variant&intron_variant NM_000051.3:c.3154-4G>A NA ATM ERCC2 19 45864905 C/T 0.02 NM_000400.3 splice_region_variant,intron_variant NM_000400.3:c.1119-5G>A NA NM_000400.3 splice_region_variant&intron_variant NM_000400.3:c.1119-5G>A NA ERCC2 EXT2 11 44117876 A/A 1.12 NM_000401.3 splice_region_variant,intron_variant NM_000401.3:c.69+5G>A NA NM_207122.1 intron_variant NM_207122.1:c.-31+474G>A NA EXT2 TSC2 16 2127732 C/T 0 NM_000548.3 splice_region_variant,intron_variant NM_000548.3:c.2966+5C>T NA NM_000548.3 splice_region_variant&intron_variant NM_000548.3:c.2966+5C>T NA TSC2 KIT 4 55593496 C/A 0 NM_000222.2 splice_region_variant,intron_variant NM_000222.2:c.1647+6C>A NA NM_000222.2 splice_region_variant&intron_variant NM_000222.2:c.1647+6C>A NA KIT EGFR 7 55210990 C/G 0.02 NM_005228.3 splice_region_variant,intron_variant NM_005228.3:c.241-8C>G NA NM_005228.3 splice_region_variant&intron_variant NM_005228.3:c.241-8C>G NA EGFR SDHB 1 17349098 C/T 0 NM_003000.2 splice_region_variant,intron_variant NM_003000.2:c.765+5G>A NA NM_003000.2 splice_region_variant&intron_variant NM_003000.2:c.765+5G>A NA SDHB RAD51D 17 33430563 C/A 0 NR_037714.1 splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant NR_037714.1:n.329G>T NA NM_002878.3 missense_variant&splice_region_variant NM_002878.3:c.577G>T NP_002869.3:p.Val193Leu RAD51D FANCD2 3 10088266 G/T 0 NM_033084.3 splice_region_variant,synonymous_variant NM_033084.3:c.1137G>T NM_033084.3:c.1137G>T(p.=) NM_033084.3 splice_region_variant&synonymous_variant NM_033084.3:c.1137G>T NP_149075.2:p.Val379%3D FANCD2 SUFU 10 104386934 T/C 24.6 NM_016169.3 splice_region_variant,synonymous_variant NM_016169.3:c.1299T>C NM_016169.3:c.1299T>C(p.=) NM_016169.3 splice_region_variant&synonymous_variant NM_016169.3:c.1299T>C NP_057253.2:p.Ile433%3D SUFU TSC1 9 135782221 T/C 13.86 NM_000368.4 splice_region_variant,synonymous_variant NM_000368.4:c.1335A>G NM_000368.4:c.1335A>G(p.=) NM_000368.4 splice_region_variant&synonymous_variant NM_000368.4:c.1335A>G NP_000359.1:p.Glu445%3D TSC1 RET 10 43606657 C/T 0 NM_020975.4 splice_region_variant,synonymous_variant NM_020975.4:c.1266C>T NM_020975.4:c.1266C>T(p.=) NM_020975.4 splice_region_variant&synonymous_variant NM_020975.4:c.1266C>T NP_066124.1:p.Ile422%3D RET NF1 17 29560021 C/T 0.44 NM_001042492.2 splice_region_variant,synonymous_variant NM_001042492.2:c.3498C>T NM_001042492.2:c.3498C>T(p.=) NM_000267.3 splice_region_variant&synonymous_variant NM_000267.3:c.3498C>T NP_000258.1:p.Gly1166%3D NF1 SUFU 10 104353395 C/T 0.1 NM_016169.3 splice_region_variant,synonymous_variant NM_016169.3:c.600C>T NM_016169.3:c.600C>T(p.=) NM_016169.3 splice_region_variant&synonymous_variant NM_016169.3:c.600C>T NP_057253.2:p.Ile200%3D SUFU KIT 4 55604597 T/A 0.08 NM_000222.2 splice_region_variant,synonymous_variant NM_000222.2:c.2805T>A NM_000222.2:c.2805T>A(p.=) NM_000222.2 splice_region_variant&synonymous_variant NM_000222.2:c.2805T>A NP_000213.1:p.Ile935%3D KIT TP53 17 7576925 T/C 0 NM_000546.5 splice_region_variant,synonymous_variant NM_000546.5:c.921A>G NM_000546.5:c.921A>G(p.=) NM_000546.5 splice_region_variant&synonymous_variant NM_000546.5:c.921A>G NP_000537.3:p.Ala307%3D TP53 TSC1 9 135782221 C/C 13.86 NM_000368.4 splice_region_variant,synonymous_variant NM_000368.4:c.1335A>G NM_000368.4:c.1335A>G(p.=) NM_000368.4 splice_region_variant&synonymous_variant NM_000368.4:c.1335A>G NP_000359.1:p.Glu445%3D TSC1 FANCA 16 89882393 C/T 0 NM_000135.2 splice_region_variant,synonymous_variant NM_000135.2:c.81G>A NM_000135.2:c.81G>A(p.=) NM_000135.2 splice_region_variant&synonymous_variant NM_000135.2:c.81G>A NP_000126.2:p.Ala27%3D FANCA TSC2 16 2103345 C/T 0.14 NM_000548.3 splice_region_variant,synonymous_variant NM_000548.3:c.228C>T NM_000548.3:c.228C>T(p.=) NM_000548.3 splice_region_variant&synonymous_variant NM_000548.3:c.228C>T NP_000539.2:p.His76%3D TSC2 TSC2 16 2124203 C/T 0 NM_000548.3 splice_region_variant,synonymous_variant NM_000548.3:c.2358C>T NM_000548.3:c.2358C>T(p.=) NM_000548.3 splice_region_variant&synonymous_variant NM_000548.3:c.2358C>T NP_000539.2:p.Arg786%3D TSC2 NF1 17 29585364 G/T 0 NM_001042492.2 splice_region_variant,synonymous_variant NM_001042492.2:c.4176G>T NM_001042492.2:c.4176G>T(p.=) NM_000267.3 splice_region_variant&synonymous_variant NM_000267.3:c.4113G>T NP_000258.1:p.Val1371%3D NF1 SUFU 10 104386934 C/C 24.6 NM_016169.3 splice_region_variant,synonymous_variant NM_016169.3:c.1299T>C NM_016169.3:c.1299T>C(p.=) NM_016169.3 splice_region_variant&synonymous_variant NM_016169.3:c.1299T>C NP_057253.2:p.Ile433%3D SUFU APC 5 112173250 G/A 0.12 NM_000038.5 splice_region_variant,synonymous_variant NM_000038.5:c.1959G>A NM_000038.5:c.1959G>A(p.=) NM_000038.5 splice_region_variant&synonymous_variant NM_000038.5:c.1959G>A NP_000029.2:p.Arg653%3D APC BRCA1 17 41249263 G/A 0.04 NM_007300.3 splice_region_variant,synonymous_variant NM_007300.3:c.591C>T NM_007300.3:c.591C>T(p.=) NM_007294.3 splice_region_variant&synonymous_variant NM_007294.3:c.591C>T NP_009225.1:p.Cys197%3D BRCA1 XPC 3 14219967 C/T 0.2 NM_004628.4 splice_region_variant,synonymous_variant NM_004628.4:c.102G>A NM_004628.4:c.102G>A(p.=) NM_004628.4 splice_region_variant&synonymous_variant NM_004628.4:c.102G>A NP_004619.3:p.Glu34%3D XPC BAP1 3 52440269 C/T 0.42 NM_004656.3 splice_region_variant,synonymous_variant NM_004656.3:c.783G>A NM_004656.3:c.783G>A(p.=) NM_004656.3 splice_region_variant&synonymous_variant NM_004656.3:c.783G>A NP_004647.1:p.Gln261%3D BAP1 ALK 2 29443572 C/T 0 NM_004304.4 splice_region_variant,synonymous_variant NM_004304.4:c.3645G>A NM_004304.4:c.3645G>A(p.=) NM_004304.4 splice_region_variant&synonymous_variant NM_004304.4:c.3645G>A NP_004295.2:p.Pro1215%3D ALK WRN 8 31024746 G/A 0 NM_000553.4 splice_region_variant,synonymous_variant NM_000553.4:c.4191G>A NM_000553.4:c.4191G>A(p.=) NM_000553.4 splice_region_variant&synonymous_variant NM_000553.4:c.4191G>A NP_000544.2:p.Glu1397%3D WRN DIS3L2 2 233194706 T/C 0 NM_152383.4 splice_region_variant,synonymous_variant NM_152383.4:c.1923T>C NM_152383.4:c.1923T>C(p.=) NM_152383.4 splice_region_variant&synonymous_variant NM_152383.4:c.1923T>C NP_689596.4:p.Asn641%3D DIS3L2 NF1 17 29557278 G/A 0 NM_001042492.2 splice_region_variant,synonymous_variant NM_001042492.2:c.2991G>A NM_001042492.2:c.2991G>A(p.=) NM_000267.3 splice_region_variant&synonymous_variant NM_000267.3:c.2991G>A NP_000258.1:p.Arg997%3D NF1 BRCA2 13 32954050 G/A 0 NM_000059.3 splice_region_variant,synonymous_variant NM_000059.3:c.9117G>A NM_000059.3:c.9117G>A(p.=) NM_000059.3 splice_region_variant&synonymous_variant NM_000059.3:c.9117G>A NP_000050.2:p.Pro3039%3D BRCA2 PTCH1 9 98211603 C/T 0 NM_000264.3 splice_region_variant,synonymous_variant NM_000264.3:c.3552G>A NM_000264.3:c.3552G>A(p.=) NM_000264.3 splice_region_variant&synonymous_variant NM_000264.3:c.3552G>A NP_000255.2:p.Val1184%3D PTCH1 ALK 2 30143525 T/A 0 NM_004304.4 start_lost NM_004304.4:c.1A>T NP_004295.2:p.Met1? NM_004304.4 start_lost NM_004304.4:c.1A>T NP_004295.2:p.Met1? ALK FANCL 2 58468447 A/G 0 NM_001114636.1 start_lost NM_001114636.1:c.2T>C NP_001108108.1:p.Met1? NM_018062.3 start_lost NM_018062.3:c.2T>C NP_060532.2:p.Met1? FANCL PRF1 10 72360656 C/T 0 NM_005041.4 start_lost NM_005041.4:c.3G>A NP_005032.2:p.Met1? NM_005041.4 start_lost NM_005041.4:c.3G>A NP_005032.2:p.Met1? PRF1 FANCM 14 45658326 C/T 0.08 NM_020937.2 stop_gained NM_020937.2:c.5101C>T NP_065988.1:p.Gln1701Ter NM_020937.2 stop_gained NM_020937.2:c.5101C>T NP_065988.1:p.Gln1701Ter FANCM MSH2 2 47702343 G/T 0 NM_000251.2 stop_gained NM_000251.2:c.1939G>T NP_000242.1:p.Glu647Ter NM_000251.2 stop_gained NM_000251.2:c.1939G>T NP_000242.1:p.Glu647Ter MSH2 BRCA2 13 32972626 A/T 0.44 NM_000059.3 stop_gained NM_000059.3:c.9976A>T NP_000050.2:p.Lys3326Ter NM_000059.3 stop_gained NM_000059.3:c.9976A>T NP_000050.2:p.Lys3326Ter BRCA2 NF2 22 30090765 C/T 0 NM_000268.3 stop_gained NM_000268.3:c.1762C>T NP_000259.1:p.Arg588Ter NM_000268.3 stop_gained NM_000268.3:c.1762C>T NP_000259.1:p.Arg588Ter NF2 SDHC 1 161326488 C/A 0 NM_003001.3 stop_gained NM_003001.3:c.263C>A NP_002992.1:p.Ser88Ter NM_003001.3 stop_gained NM_003001.3:c.263C>A NP_002992.1:p.Ser88Ter SDHC CHEK2 22 29091725 C/T 0 NM_001005735.1 stop_gained NM_001005735.1:c.1361G>A NP_001005735.1:p.Trp454Ter NM_007194.3 stop_gained NM_007194.3:c.1232G>A NP_009125.1:p.Trp411Ter CHEK2 XPA 9 100447259 G/A 0 NM_000380.3 stop_gained NM_000380.3:c.619C>T NP_000371.1:p.Arg207Ter NM_000380.3 stop_gained NM_000380.3:c.619C>T NP_000371.1:p.Arg207Ter XPA PALB2 16 23641218 G/A 0 NM_024675.3 stop_gained NM_024675.3:c.2257C>T NP_078951.2:p.Arg753Ter NM_024675.3 stop_gained NM_024675.3:c.2257C>T NP_078951.2:p.Arg753Ter PALB2 XPC 3 14209830 G/A 0 NM_004628.4 stop_gained NM_004628.4:c.463C>T NP_004619.3:p.Arg155Ter NM_004628.4 stop_gained NM_004628.4:c.463C>T NP_004619.3:p.Arg155Ter XPC BLM 15 91304245 C/T 0 NM_000057.2 stop_gained NM_000057.2:c.1642C>T NP_000048.1:p.Gln548Ter NM_000057.2 stop_gained NM_000057.2:c.1642C>T NP_000048.1:p.Gln548Ter BLM FANCG 9 35079446 G/A 0 NM_004629.1 stop_gained NM_004629.1:c.76C>T NP_004620.1:p.Gln26Ter NM_004629.1 stop_gained NM_004629.1:c.76C>T NP_004620.1:p.Gln26Ter FANCG FANCM 14 45636336 C/T 0.02 NM_020937.2 stop_gained NM_020937.2:c.1972C>T NP_065988.1:p.Arg658Ter NM_020937.2 stop_gained NM_020937.2:c.1972C>T NP_065988.1:p.Arg658Ter FANCM MSH2 2 47657020 C/T 0 NM_000251.2 stop_gained NM_000251.2:c.1216C>T NP_000242.1:p.Arg406Ter NM_000251.2 stop_gained NM_000251.2:c.1216C>T NP_000242.1:p.Arg406Ter MSH2 WRN 8 31030535 C/T 0.54 NM_000553.4 stop_gained NM_000553.4:c.4216C>T NP_000544.2:p.Arg1406Ter NM_000553.4 stop_gained NM_000553.4:c.4216C>T NP_000544.2:p.Arg1406Ter WRN FANCE 6 35423540 C/T 0 NM_021922.2 stop_gained NM_021922.2:c.265C>T NP_068741.1:p.Arg89Ter NM_021922.2 stop_gained NM_021922.2:c.265C>T NP_068741.1:p.Arg89Ter FANCE NF1 17 29550537 G/A 0 NM_001042492.2 stop_gained NM_001042492.2:c.1797G>A NP_001035957.1:p.Trp599Ter NM_000267.3 stop_gained NM_000267.3:c.1797G>A NP_000258.1:p.Trp599Ter NF1 RAD51C 17 56780562 C/T 0 NM_058216.2 stop_gained NM_058216.2:c.577C>T NP_478123.1:p.Arg193Ter NM_058216.2 stop_gained NM_058216.2:c.577C>T NP_478123.1:p.Arg193Ter RAD51C WRN 8 30916743 C/A 0 NM_000553.4 stop_gained NM_000553.4:c.171C>A NP_000544.2:p.Tyr57Ter NM_000553.4 stop_gained NM_000553.4:c.171C>A NP_000544.2:p.Tyr57Ter WRN NF1 17 29496913 C/T 0 NM_001042492.2 stop_gained NM_001042492.2:c.484C>T NP_001035957.1:p.Gln162Ter NM_000267.3 stop_gained NM_000267.3:c.484C>T NP_000258.1:p.Gln162Ter NF1 ATM,C11ORF65 11 108235935 C/T 0 NM_000051.3 stop_gained NM_000051.3:c.8977C>T NP_000042.3:p.Arg2993Ter NM_000051.3 stop_gained NM_000051.3:c.8977C>T NP_000042.3:p.Arg2993Ter ATM FANCD2 3 10106099 T/A 0 NM_033084.3 stop_gained NM_033084.3:c.2007T>A NP_149075.2:p.Cys669Ter NM_033084.3 stop_gained NM_033084.3:c.2007T>A NP_149075.2:p.Cys669Ter FANCD2 ATM,C11ORF65 11 108183151 G/T 0 NM_000051.3 stop_gained NM_000051.3:c.5932G>T NP_000042.3:p.Glu1978Ter NM_000051.3 stop_gained NM_000051.3:c.5932G>T NP_000042.3:p.Glu1978Ter ATM BRCA2 13 32921008 G/T 0 NM_000059.3 stop_gained NM_000059.3:c.6982G>T NP_000050.2:p.Glu2328Ter NM_000059.3 stop_gained NM_000059.3:c.6982G>T NP_000050.2:p.Glu2328Ter BRCA2 NF1 17 29556475 C/T 0 NM_001042492.2 stop_gained NM_001042492.2:c.2842C>T NP_001035957.1:p.Gln948Ter NM_000267.3 stop_gained NM_000267.3:c.2842C>T NP_000258.1:p.Gln948Ter NF1 BRCA1 17 41244208 C/A 0 NM_007300.3 stop_gained NM_007300.3:c.3340G>T NP_009231.2:p.Glu1114Ter NM_007294.3 stop_gained NM_007294.3:c.3340G>T NP_009225.1:p.Glu1114Ter BRCA1 SBDS 7 66459273 T/A 0.06 NM_016038.2 stop_gained NM_016038.2:c.184A>T NP_057122.2:p.Lys62Ter NM_016038.2 stop_gained NM_016038.2:c.184A>T NP_057122.2:p.Lys62Ter SBDS BRCA1 17 41199696 G/A 0 NM_007300.3 stop_gained NM_007300.3:c.5494C>T NP_009231.2:p.Gln1832Ter NM_007294.3 stop_gained NM_007294.3:c.5431C>T NP_009225.1:p.Gln1811Ter BRCA1 ERCC3 2 128028924 G/A 0 NM_000122.1 stop_gained NM_000122.1:c.1933C>T NP_000113.1:p.Arg645Ter NM_000122.1 stop_gained NM_000122.1:c.1933C>T NP_000113.1:p.Arg645Ter ERCC3 TSC1 9 135780978 C/A 0 NM_000368.4 stop_gained NM_000368.4:c.1987G>T NP_000359.1:p.Glu663Ter NM_000368.4 stop_gained NM_000368.4:c.1987G>T NP_000359.1:p.Glu663Ter TSC1 ATM 11 108115609 G/T 0 NM_000051.3 stop_gained NM_000051.3:c.757G>T NP_000042.3:p.Glu253Ter NM_000051.3 stop_gained NM_000051.3:c.757G>T NP_000042.3:p.Glu253Ter ATM PMS1 2 190717474 C/T 0 NM_000534.4 stop_gained NM_000534.4:c.793C>T NP_000525.1:p.Arg265Ter NM_000534.4 stop_gained NM_000534.4:c.793C>T NP_000525.1:p.Arg265Ter PMS1 BRCA2 13 32906732 C/T 0 NM_000059.3 stop_gained NM_000059.3:c.1117C>T NP_000050.2:p.Gln373Ter NM_000059.3 stop_gained NM_000059.3:c.1117C>T NP_000050.2:p.Gln373Ter BRCA2 TSC1 9 135802651 G/C 0 NM_000368.4 stop_gained NM_000368.4:c.147C>G NP_000359.1:p.Tyr49Ter NM_000368.4 stop_gained NM_000368.4:c.147C>G NP_000359.1:p.Tyr49Ter TSC1 TSC2 16 2134301 G/T 0 NM_000548.3 stop_gained NM_000548.3:c.4078G>T NP_000539.2:p.Glu1360Ter NM_000548.3 stop_gained NM_000548.3:c.4078G>T NP_000539.2:p.Glu1360Ter TSC2 PMS1 2 190660525 C/T 0 NM_000534.4 stop_gained NM_000534.4:c.163C>T NP_000525.1:p.Arg55Ter NM_000534.4 stop_gained NM_000534.4:c.163C>T NP_000525.1:p.Arg55Ter PMS1 BRCA1 17 41243941 G/A 0 NM_007300.3 stop_gained NM_007300.3:c.3607C>T NP_009231.2:p.Arg1203Ter NM_007294.3 stop_gained NM_007294.3:c.3607C>T NP_009225.1:p.Arg1203Ter BRCA1 TMEM127 2 96931114 G/C 0 NM_017849.3 stop_gained NM_017849.3:c.6C>G NP_060319.1:p.Tyr2Ter NM_017849.3 stop_gained NM_017849.3:c.6C>G NP_060319.1:p.Tyr2Ter TMEM127 RAD51C 17 56787223 C/T 0 NM_058216.2 stop_gained NM_058216.2:c.709C>T NP_478123.1:p.Arg237Ter NM_058216.2 stop_gained NM_058216.2:c.709C>T NP_478123.1:p.Arg237Ter RAD51C SLX4 16 3658866 G/A 0 NM_032444.2 stop_gained NM_032444.2:c.100C>T NP_115820.2:p.Gln34Ter NM_032444.2 stop_gained NM_032444.2:c.100C>T NP_115820.2:p.Gln34Ter SLX4 BRCA2 13 32914283 C/T 0 NM_000059.3 stop_gained NM_000059.3:c.5791C>T NP_000050.2:p.Gln1931Ter NM_000059.3 stop_gained NM_000059.3:c.5791C>T NP_000050.2:p.Gln1931Ter BRCA2 TSC2 16 2136293 C/T 0 NM_000548.3 stop_gained NM_000548.3:c.4762C>T NP_000539.2:p.Gln1588Ter NM_000548.3 stop_gained NM_000548.3:c.4762C>T NP_000539.2:p.Gln1588Ter TSC2 BRCA2 13 32910831 C/G 0 NM_000059.3 stop_gained NM_000059.3:c.2339C>G NP_000050.2:p.Ser780Ter NM_000059.3 stop_gained NM_000059.3:c.2339C>G NP_000050.2:p.Ser780Ter BRCA2 BRCA1 17 41226499 C/T 0 NM_007300.3 stop_gained NM_007300.3:c.4587G>A NP_009231.2:p.Trp1529Ter NM_007294.3 stop_gained NM_007294.3:c.4524G>A NP_009225.1:p.Trp1508Ter BRCA1 BLM 15 91310154 T/G 0 NM_000057.2 stop_gained NM_000057.2:c.2208T>G NP_000048.1:p.Tyr736Ter NM_000057.2 stop_gained NM_000057.2:c.2208T>G NP_000048.1:p.Tyr736Ter BLM RB1 13 48941648 C/T 0 NM_000321.2 stop_gained NM_000321.2:c.958C>T NP_000312.2:p.Arg320Ter NM_000321.2 stop_gained NM_000321.2:c.958C>T NP_000312.2:p.Arg320Ter RB1 PMS1 2 190728500 T/T 0 NM_000534.4 stop_gained NM_000534.4:c.1888C>T NP_000525.1:p.Arg630Ter NM_000534.4 stop_gained NM_000534.4:c.1888C>T NP_000525.1:p.Arg630Ter PMS1 FANCI 15 89858549 C/T 0 NM_001113378.1 stop_gained NM_001113378.1:c.3853C>T NP_001106849.1:p.Arg1285Ter NM_001113378.1 stop_gained NM_001113378.1:c.3853C>T NP_001106849.1:p.Arg1285Ter FANCI BIVM-ERCC5,ERCC5 13 103514385 C/T 0 NM_001204425.1 stop_gained NM_001204425.1:c.2248C>T NP_001191354.1:p.Gln750Ter NM_000123.3 stop_gained NM_000123.3:c.886C>T NP_000114.2:p.Gln296Ter ERCC5 PALB2 16 23619279 G/A 0 NM_024675.3 stop_gained NM_024675.3:c.3256C>T NP_078951.2:p.Arg1086Ter NM_024675.3 stop_gained NM_024675.3:c.3256C>T NP_078951.2:p.Arg1086Ter PALB2 STK11 19 1207131 C/A 0 NM_000455.4 stop_gained NM_000455.4:c.219C>A NP_000446.1:p.Cys73Ter NM_000455.4 stop_gained NM_000455.4:c.219C>A NP_000446.1:p.Cys73Ter STK11 FANCA 16 89828422 G/C 0 NM_000135.2 stop_gained NM_000135.2:c.2787C>G NP_000126.2:p.Tyr929Ter NM_000135.2 stop_gained NM_000135.2:c.2787C>G NP_000126.2:p.Tyr929Ter FANCA BRCA2 13 32914172 T/TA 0 NM_000059.3 stop_gained,frameshift_variant NM_000059.3:c.5681dupA NP_000050.2:p.Tyr1894Ter NM_000059.3 stop_gained&frameshift_variant NM_000059.3:c.5681dupA NP_000050.2:p.Tyr1894Ter BRCA2 NF2 22 30038257 T/TA 0 NM_000268.3 stop_gained,frameshift_variant NM_000268.3:c.431dupA NP_000259.1:p.Tyr144Ter NM_000268.3 stop_gained&frameshift_variant NM_000268.3:c.431dupA NP_000259.1:p.Tyr144Ter NF2 MLH1 3 37053589 C/T 0 NM_000249.3 stop_gained,splice_region_variant NM_000249.3:c.676C>T NP_000240.1:p.Arg226Ter NM_000249.3 stop_gained&splice_region_variant NM_000249.3:c.676C>T NP_000240.1:p.Arg226Ter MLH1 FANCD2 3 10088299 C/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.1170C>T NM_033084.3:c.1170C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1170C>T NP_149075.2:p.Ser390%3D FANCD2 FANCD2 3 10088308 T/C 0 NM_033084.3 synonymous_variant NM_033084.3:c.1179T>C NM_033084.3:c.1179T>C(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1179T>C NP_149075.2:p.Thr393%3D FANCD2 FANCD2 3 10088404 C/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.1275C>T NM_033084.3:c.1275C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1275C>T NP_149075.2:p.Tyr425%3D FANCD2 FANCD2 3 10089723 G/A 0 NM_033084.3 synonymous_variant NM_033084.3:c.1401G>A NM_033084.3:c.1401G>A(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1401G>A NP_149075.2:p.Thr467%3D FANCD2 PMS2 7 6043613 G/A 0 NM_000535.5 synonymous_variant NM_000535.5:c.240C>T NM_000535.5:c.240C>T(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.240C>T NP_000526.1:p.Phe80%3D PMS2 MSH2 2 47698179 A/G 0.1 NM_000251.2 synonymous_variant NM_000251.2:c.1737A>G NM_000251.2:c.1737A>G(p.=) NM_000251.2 synonymous_variant NM_000251.2:c.1737A>G NP_000242.1:p.Lys579%3D MSH2 TSC2 16 2103372 C/T 0.1 NM_000548.3 synonymous_variant NM_000548.3:c.255C>T NM_000548.3:c.255C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.255C>T NP_000539.2:p.Val85%3D TSC2 FANCF 11 22646970 G/A 0.32 NM_022725.3 synonymous_variant NM_022725.3:c.387C>T NM_022725.3:c.387C>T(p.=) NM_022725.3 synonymous_variant NM_022725.3:c.387C>T NP_073562.1:p.Leu129%3D FANCF ERCC4 16 14014055 C/T 0.58 NM_005236.2 synonymous_variant NM_005236.2:c.33C>T NM_005236.2:c.33C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.33C>T NP_005227.1:p.Ala11%3D ERCC4 GATA2 3 128200072 C/T 0.94 NM_032638.4 synonymous_variant NM_032638.4:c.1233G>A NM_032638.4:c.1233G>A(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.1233G>A NP_116027.2:p.Ala411%3D GATA2 PTCH1 9 98244242 T/C 0.94 NM_000264.3 synonymous_variant NM_000264.3:c.735A>G NM_000264.3:c.735A>G(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.735A>G NP_000255.2:p.Thr245%3D PTCH1 FH 1 241667523 C/T 3.75 NM_000143.3 synonymous_variant NM_000143.3:c.927G>A NM_000143.3:c.927G>A(p.=) NM_000143.3 synonymous_variant NM_000143.3:c.927G>A NP_000134.2:p.Pro309%3D FH BUB1B,PAK6 15 40510662 C/T 0.9 NM_001211.5 synonymous_variant NM_001211.5:c.2856C>T NM_001211.5:c.2856C>T(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.2856C>T NP_001202.4:p.Asp952%3D BUB1B CYLD 16 50827518 C/T 7.91 NM_015247.2 synonymous_variant NM_015247.2:c.2412C>T NM_015247.2:c.2412C>T(p.=) NM_001042412.1 synonymous_variant NM_001042412.1:c.2403C>T NP_001035877.1:p.Asp801%3D CYLD EGFR 7 55233089 C/T 4.21 NM_005228.3 synonymous_variant NM_005228.3:c.1839C>T NM_005228.3:c.1839C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.1839C>T NP_005219.2:p.Ala613%3D EGFR TSC2 16 2114407 C/T 3.51 NM_000548.3 synonymous_variant NM_000548.3:c.1578C>T NM_000548.3:c.1578C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1578C>T NP_000539.2:p.Ser526%3D TSC2 TSC2 16 2125834 T/C 6.27 NM_000548.3 synonymous_variant NM_000548.3:c.2580T>C NM_000548.3:c.2580T>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.2580T>C NP_000539.2:p.Phe860%3D TSC2 KIT 4 55602765 G/C 16.41 NM_000222.2 synonymous_variant NM_000222.2:c.2586G>C NM_000222.2:c.2586G>C(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.2586G>C NP_000213.1:p.Leu862%3D KIT TSC2 16 2138584 G/C 4.11 NM_000548.3 synonymous_variant NM_000548.3:c.5397G>C NM_000548.3:c.5397G>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.5397G>C NP_000539.2:p.Ser1799%3D TSC2 ALK 2 29416615 G/A 5.91 NM_004304.4 synonymous_variant NM_004304.4:c.4338C>T NM_004304.4:c.4338C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.4338C>T NP_004295.2:p.Thr1446%3D ALK WT1 11 32456562 G/A 30.39 NM_024426.4 synonymous_variant NM_024426.4:c.330C>T NM_024426.4:c.330C>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.330C>T NP_077744.3:p.Pro110%3D WT1 MSH6 2 48010558 C/A 6.91 NM_000179.2 synonymous_variant NM_000179.2:c.186C>A NM_000179.2:c.186C>A(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.186C>A NP_000170.1:p.Arg62%3D MSH6 MSH6 2 48018081 A/G 8.67 NM_000179.2 synonymous_variant NM_000179.2:c.276A>G NM_000179.2:c.276A>G(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.276A>G NP_000170.1:p.Pro92%3D MSH6 TSC2 16 2138269 C/C 27.64 NM_000548.3 synonymous_variant NM_000548.3:c.5202T>C NM_000548.3:c.5202T>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.5202T>C NP_000539.2:p.Asp1734%3D TSC2 ALK 2 29449819 C/T 16.99 NM_004304.4 synonymous_variant NM_004304.4:c.3036G>A NM_004304.4:c.3036G>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3036G>A NP_004295.2:p.Thr1012%3D ALK PTCH1 9 98238358 A/A 9.18 NM_000264.3 synonymous_variant NM_000264.3:c.1686C>T NM_000264.3:c.1686C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.1686C>T NP_000255.2:p.Ala562%3D PTCH1 HNF1A 12 121437114 G/A 6.29 NM_000545.5 synonymous_variant NM_000545.5:c.1545G>A NM_000545.5:c.1545G>A(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.1545G>A NP_000536.5:p.Thr515%3D HNF1A BRCA2 13 32912299 T/C 16.81 NM_000059.3 synonymous_variant NM_000059.3:c.3807T>C NM_000059.3:c.3807T>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.3807T>C NP_000050.2:p.Val1269%3D BRCA2 XPC 3 14193889 C/T 23.54 NM_004628.4 synonymous_variant NM_004628.4:c.2061G>A NM_004628.4:c.2061G>A(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.2061G>A NP_004619.3:p.Arg687%3D XPC EXT1 8 118832020 G/A 12.02 NM_000127.2 synonymous_variant NM_000127.2:c.1431C>T NM_000127.2:c.1431C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1431C>T NP_000118.2:p.Pro477%3D EXT1 EXT1 8 118847782 G/A 17.39 NM_000127.2 synonymous_variant NM_000127.2:c.1065C>T NM_000127.2:c.1065C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1065C>T NP_000118.2:p.Cys355%3D EXT1 MSH6 2 48023115 T/C 13.52 NM_000179.2 synonymous_variant NM_000179.2:c.540T>C NM_000179.2:c.540T>C(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.540T>C NP_000170.1:p.Asp180%3D MSH6 ERCC4 16 14041958 T/C 24.12 NM_005236.2 synonymous_variant NM_005236.2:c.2505T>C NM_005236.2:c.2505T>C(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.2505T>C NP_005227.1:p.Ser835%3D ERCC4 HNF1A 12 121432117 G/C 18.11 NM_000545.5 synonymous_variant NM_000545.5:c.864G>C NM_000545.5:c.864G>C(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.864G>C NP_000536.5:p.Gly288%3D HNF1A HRAS 11 534242 G/G 29.71 NM_005343.2 synonymous_variant NM_005343.2:c.81T>C NM_005343.2:c.81T>C(p.=) NM_005343.2 synonymous_variant NM_005343.2:c.81T>C NP_005334.1:p.His27%3D HRAS HNF1A 12 121435342 C/T 31.67 NM_000545.5 synonymous_variant NM_000545.5:c.1375C>T NM_000545.5:c.1375C>T(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.1375C>T NP_000536.5:p.Leu459%3D HNF1A NBN 8 90967711 A/G 39.14 NM_002485.4 synonymous_variant NM_002485.4:c.1197T>C NM_002485.4:c.1197T>C(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.1197T>C NP_002476.2:p.Asp399%3D NBN EGFR 7 55238874 T/A 39.04 NM_005228.3 synonymous_variant NM_005228.3:c.1887T>A NM_005228.3:c.1887T>A(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.1887T>A NP_005219.2:p.Thr629%3D EGFR RECQL4 8 145741765 G/A 37 NM_004260.3 synonymous_variant NM_004260.3:c.738C>T NM_004260.3:c.738C>T(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.738C>T NP_004251.3:p.Ser246%3D RECQL4 MET 7 116435768 T/T 35.22 NM_001127500.1 synonymous_variant NM_001127500.1:c.3912C>T NM_001127500.1:c.3912C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.3858C>T NP_000236.2:p.Asp1286%3D MET MET 7 116436022 A/A 35.38 NM_001127500.1 synonymous_variant NM_001127500.1:c.4071G>A NM_001127500.1:c.4071G>A(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.4017G>A NP_000236.2:p.Ala1339%3D MET MET 7 116436097 A/A 35.46 NM_001127500.1 synonymous_variant NM_001127500.1:c.4146G>A NM_001127500.1:c.4146G>A(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.4092G>A NP_000236.2:p.Pro1364%3D MET HNF1A 12 121416622 C/G 42.85 NM_000545.5 synonymous_variant NM_000545.5:c.51C>G NM_000545.5:c.51C>G(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.51C>G NP_000536.5:p.Leu17%3D HNF1A EGFR 7 55214348 C/T 47.54 NM_005228.3 synonymous_variant NM_005228.3:c.474C>T NM_005228.3:c.474C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.474C>T NP_005219.2:p.Asn158%3D EGFR RECQL4 8 145742879 C/C 42.49 NM_004260.3 synonymous_variant NM_004260.3:c.132A>G NM_004260.3:c.132A>G(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.132A>G NP_004251.3:p.Glu44%3D RECQL4 ERCC2 19 45868309 T/G 36.38 NM_000400.3 synonymous_variant NM_000400.3:c.468A>C NM_000400.3:c.468A>C(p.=) NM_000400.3 synonymous_variant NM_000400.3:c.468A>C NP_000391.1:p.Arg156%3D ERCC2 BRIP1 17 59760996 A/G 37.92 NM_032043.2 synonymous_variant NM_032043.2:c.3411T>C NM_032043.2:c.3411T>C(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.3411T>C NP_114432.2:p.Tyr1137%3D BRIP1 APC 5 112162854 T/C 49 NM_000038.5 synonymous_variant NM_000038.5:c.1458T>C NM_000038.5:c.1458T>C(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.1458T>C NP_000029.2:p.Tyr486%3D APC BIVM-ERCC5,ERCC5 13 103504517 C/C 49.3 NM_001204425.1 synonymous_variant NM_001204425.1:c.1500T>C NM_001204425.1:c.1500T>C(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.138T>C NP_000114.2:p.His46%3D ERCC5 APC 5 112164561 G/A 33.39 NM_000038.5 synonymous_variant NM_000038.5:c.1635G>A NM_000038.5:c.1635G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.1635G>A NP_000029.2:p.Ala545%3D APC APC 5 112175770 G/A 33.45 NM_000038.5 synonymous_variant NM_000038.5:c.4479G>A NM_000038.5:c.4479G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.4479G>A NP_000029.2:p.Thr1493%3D APC APC 5 112177171 G/A 33.35 NM_000038.5 synonymous_variant NM_000038.5:c.5880G>A NM_000038.5:c.5880G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5880G>A NP_000029.2:p.Pro1960%3D APC APC 5 112176559 T/G 33.31 NM_000038.5 synonymous_variant NM_000038.5:c.5268T>G NM_000038.5:c.5268T>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5268T>G NP_000029.2:p.Ser1756%3D APC APC 5 112176325 G/A 33.33 NM_000038.5 synonymous_variant NM_000038.5:c.5034G>A NM_000038.5:c.5034G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5034G>A NP_000029.2:p.Gly1678%3D APC EGFR,EGFR-AS1 7 55249063 A/A 43.27 NM_005228.3 synonymous_variant NM_005228.3:c.2361G>A NM_005228.3:c.2361G>A(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2361G>A NP_005219.2:p.Gln787%3D EGFR CDH1 16 68857441 C/C 28.13 NM_004360.3 synonymous_variant NM_004360.3:c.2076T>C NM_004360.3:c.2076T>C(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.2076T>C NP_004351.1:p.Ala692%3D CDH1 BRIP1 17 59763465 C/C 18.49 NM_032043.2 synonymous_variant NM_032043.2:c.2637A>G NM_032043.2:c.2637A>G(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.2637A>G NP_114432.2:p.Glu879%3D BRIP1 GATA2 3 128205860 C/C 29.01 NM_032638.4 synonymous_variant NM_032638.4:c.15C>G NM_032638.4:c.15C>G(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.15C>G NP_116027.2:p.Pro5%3D GATA2 NF1 17 29508775 A/A 48.82 NM_001042492.2 synonymous_variant NM_001042492.2:c.702G>A NM_001042492.2:c.702G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.702G>A NP_000258.1:p.Leu234%3D NF1 RET 10 43606687 G/G 22.48 NM_020975.4 synonymous_variant NM_020975.4:c.1296A>G NM_020975.4:c.1296A>G(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1296A>G NP_066124.1:p.Ala432%3D RET ALK 2 29455267 G/G 50 NM_004304.4 synonymous_variant NM_004304.4:c.2535T>C NM_004304.4:c.2535T>C(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2535T>C NP_004295.2:p.Gly845%3D ALK RET 10 43595968 A/G 24.64 NM_020975.4 synonymous_variant NM_020975.4:c.135A>G NM_020975.4:c.135A>G(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.135A>G NP_066124.1:p.Ala45%3D RET RET 10 43613843 G/T 28.75 NM_020975.4 synonymous_variant NM_020975.4:c.2307G>T NM_020975.4:c.2307G>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2307G>T NP_066124.1:p.Leu769%3D RET ALK 2 29940529 T/T 41.07 NM_004304.4 synonymous_variant NM_004304.4:c.702T>A NM_004304.4:c.702T>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.702T>A NP_004295.2:p.Pro234%3D ALK PMS2 7 6036980 C/C 16.87 NM_000535.5 synonymous_variant NM_000535.5:c.780C>G NM_000535.5:c.780C>G(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.780C>G NP_000526.1:p.Ser260%3D PMS2 NSD1 5 176721198 C/C 22.86 NM_022455.4 synonymous_variant NM_022455.4:c.6829T>C NM_022455.4:c.6829T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.6829T>C NP_071900.2:p.Leu2277%3D NSD1 ALK 2 30143499 C/C 10.62 NM_004304.4 synonymous_variant NM_004304.4:c.27C>G NM_004304.4:c.27C>G(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.27C>G NP_004295.2:p.Leu9%3D ALK EGFR 7 55266417 C/C 8.33 NM_005228.3 synonymous_variant NM_005228.3:c.2709T>C NM_005228.3:c.2709T>C(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2709T>C NP_005219.2:p.Thr903%3D EGFR ALK 2 29543663 C/C 22.34 NM_004304.4 synonymous_variant NM_004304.4:c.1500A>G NM_004304.4:c.1500A>G(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.1500A>G NP_004295.2:p.Gln500%3D ALK FANCI 15 89838236 G/A 1.92 NM_001113378.1 synonymous_variant NM_001113378.1:c.2547G>A NM_001113378.1:c.2547G>A(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2547G>A NP_001106849.1:p.Lys849%3D FANCI SDHB 1 17380497 T/T 4.29 NM_003000.2 synonymous_variant NM_003000.2:c.18C>A NM_003000.2:c.18C>A(p.=) NM_003000.2 synonymous_variant NM_003000.2:c.18C>A NP_002991.2:p.Ala6%3D SDHB BRCA2 13 32913055 G/G 2.6 NM_000059.3 synonymous_variant NM_000059.3:c.4563A>G NM_000059.3:c.4563A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.4563A>G NP_000050.2:p.Leu1521%3D BRCA2 BRCA2 13 32915005 C/C 2.6 NM_000059.3 synonymous_variant NM_000059.3:c.6513G>C NM_000059.3:c.6513G>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.6513G>C NP_000050.2:p.Val2171%3D BRCA2 XPC 3 14197987 T/T 0 NM_004628.4 synonymous_variant NM_004628.4:c.1881T>A NM_004628.4:c.1881T>A(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.1881T>A NP_004619.3:p.Ala627%3D XPC DDB2 11 47238522 C/C 0.58 NM_000107.2 synonymous_variant NM_000107.2:c.378T>C NM_000107.2:c.378T>C(p.=) NM_000107.2 synonymous_variant NM_000107.2:c.378T>C NP_000098.1:p.Thr126%3D DDB2 MSH6 2 48027045 A/G 0 NM_000179.2 synonymous_variant NM_000179.2:c.1923A>G NM_000179.2:c.1923A>G(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.1923A>G NP_000170.1:p.Glu641%3D MSH6 BUB1B 15 40462846 T/C 0.3 NM_001211.5 synonymous_variant NM_001211.5:c.348T>C NM_001211.5:c.348T>C(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.348T>C NP_001202.4:p.Tyr116%3D BUB1B PMS2 7 6043386 G/A 11.36 NM_000535.5 synonymous_variant NM_000535.5:c.288C>T NM_000535.5:c.288C>T(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.288C>T NP_000526.1:p.Ala96%3D PMS2 BUB1B 15 40462780 G/A 8.74 NM_001211.5 synonymous_variant NM_001211.5:c.282G>A NM_001211.5:c.282G>A(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.282G>A NP_001202.4:p.Lys94%3D BUB1B WT1 11 32417945 T/C 33.15 NM_024426.4 synonymous_variant NM_024426.4:c.1107A>G NM_024426.4:c.1107A>G(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.1107A>G NP_077744.3:p.Arg369%3D WT1 WT1 11 32456694 C/A 30.17 NM_024426.4 synonymous_variant NM_024426.4:c.198G>T NM_024426.4:c.198G>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.198G>T NP_077744.3:p.Pro66%3D WT1 RET 10 43615633 C/G 17.25 NM_020975.4 synonymous_variant NM_020975.4:c.2712C>G NM_020975.4:c.2712C>G(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2712C>G NP_066124.1:p.Ser904%3D RET SLX4 16 3656482 C/T 23.08 NM_032444.2 synonymous_variant NM_032444.2:c.753G>A NM_032444.2:c.753G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.753G>A NP_115820.2:p.Ala251%3D SLX4 CDKN1C 11 2906165 A/G 22.24 NM_000076.2 synonymous_variant NM_000076.2:c.555T>C NM_000076.2:c.555T>C(p.=) NM_000076.2 synonymous_variant NM_000076.2:c.555T>C NP_000067.1:p.Ala185%3D CDKN1C BRCA2 13 32929232 A/G 23.26 NM_000059.3 synonymous_variant NM_000059.3:c.7242A>G NM_000059.3:c.7242A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.7242A>G NP_000050.2:p.Ser2414%3D BRCA2 XPC 3 14193889 T/T 23.54 NM_004628.4 synonymous_variant NM_004628.4:c.2061G>A NM_004628.4:c.2061G>A(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.2061G>A NP_004619.3:p.Arg687%3D XPC NSD1 5 176721272 G/C 10.8 NM_022455.4 synonymous_variant NM_022455.4:c.6903G>C NM_022455.4:c.6903G>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.6903G>C NP_071900.2:p.Gly2301%3D NSD1 BRCA2 13 32911888 A/G 26.68 NM_000059.3 synonymous_variant NM_000059.3:c.3396A>G NM_000059.3:c.3396A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.3396A>G NP_000050.2:p.Lys1132%3D BRCA2 BRCA1 17 41245466 G/A 33.65 NM_007300.3 synonymous_variant NM_007300.3:c.2082C>T NM_007300.3:c.2082C>T(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2082C>T NP_009225.1:p.Ser694%3D BRCA1 BRCA1 17 41245237 A/G 33.53 NM_007300.3 synonymous_variant NM_007300.3:c.2311T>C NM_007300.3:c.2311T>C(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2311T>C NP_009225.1:p.Leu771%3D BRCA1 BRCA1 17 41234470 A/G 33.63 NM_007300.3 synonymous_variant NM_007300.3:c.4308T>C NM_007300.3:c.4308T>C(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.4308T>C NP_009225.1:p.Ser1436%3D BRCA1 EXT1 8 118819578 T/T 33.85 NM_000127.2 synonymous_variant NM_000127.2:c.1761G>A NM_000127.2:c.1761G>A(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1761G>A NP_000118.2:p.Glu587%3D EXT1 WRN 8 30973957 G/T 47.12 NM_000553.4 synonymous_variant NM_000553.4:c.2361G>T NM_000553.4:c.2361G>T(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.2361G>T NP_000544.2:p.Leu787%3D WRN RECQL4 8 145742879 T/C 42.49 NM_004260.3 synonymous_variant NM_004260.3:c.132A>G NM_004260.3:c.132A>G(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.132A>G NP_004251.3:p.Glu44%3D RECQL4 SLX4 16 3639139 G/G 26.04 NM_032444.2 synonymous_variant NM_032444.2:c.4500T>C NM_032444.2:c.4500T>C(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.4500T>C NP_115820.2:p.Asn1500%3D SLX4 PRF1 10 72358577 G/A 30.41 NM_005041.4 synonymous_variant NM_005041.4:c.900C>T NM_005041.4:c.900C>T(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.900C>T NP_005032.2:p.His300%3D PRF1 EGFR,EGFR-AS1 7 55249063 G/A 43.27 NM_005228.3 synonymous_variant NM_005228.3:c.2361G>A NM_005228.3:c.2361G>A(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2361G>A NP_005219.2:p.Gln787%3D EGFR CDH1 16 68857441 T/C 28.13 NM_004360.3 synonymous_variant NM_004360.3:c.2076T>C NM_004360.3:c.2076T>C(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.2076T>C NP_004351.1:p.Ala692%3D CDH1 GATA2 3 128205860 G/C 29.01 NM_032638.4 synonymous_variant NM_032638.4:c.15C>G NM_032638.4:c.15C>G(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.15C>G NP_116027.2:p.Pro5%3D GATA2 FANCE 6 35423662 C/C 22.2 NM_021922.2 synonymous_variant NM_021922.2:c.387A>C NM_021922.2:c.387A>C(p.=) NM_021922.2 synonymous_variant NM_021922.2:c.387A>C NP_068741.1:p.Pro129%3D FANCE WRN 8 30924557 C/T 31.27 NM_000553.4 synonymous_variant NM_000553.4:c.513C>T NM_000553.4:c.513C>T(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.513C>T NP_000544.2:p.Cys171%3D WRN RET 10 43606687 A/G 22.48 NM_020975.4 synonymous_variant NM_020975.4:c.1296A>G NM_020975.4:c.1296A>G(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1296A>G NP_066124.1:p.Ala432%3D RET RET 10 43595968 G/G 24.64 NM_020975.4 synonymous_variant NM_020975.4:c.135A>G NM_020975.4:c.135A>G(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.135A>G NP_066124.1:p.Ala45%3D RET RET 10 43613843 T/T 28.75 NM_020975.4 synonymous_variant NM_020975.4:c.2307G>T NM_020975.4:c.2307G>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2307G>T NP_066124.1:p.Leu769%3D RET ALK 2 30143499 G/C 10.62 NM_004304.4 synonymous_variant NM_004304.4:c.27C>G NM_004304.4:c.27C>G(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.27C>G NP_004295.2:p.Leu9%3D ALK FANCI 15 89838236 A/A 1.92 NM_001113378.1 synonymous_variant NM_001113378.1:c.2547G>A NM_001113378.1:c.2547G>A(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2547G>A NP_001106849.1:p.Lys849%3D FANCI NF1 17 29653237 G/A 0.2 NM_001042492.2 synonymous_variant NM_001042492.2:c.5235G>A NM_001042492.2:c.5235G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.5172G>A NP_000258.1:p.Lys1724%3D NF1 DICER1 14 95579534 C/T 0.38 NM_177438.2 synonymous_variant NM_177438.2:c.1935G>A NM_177438.2:c.1935G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.1935G>A NP_803187.1:p.Pro645%3D DICER1 MET 7 116339672 C/T 8.85 NM_001127500.1 synonymous_variant NM_001127500.1:c.534C>T NM_001127500.1:c.534C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.534C>T NP_000236.2:p.Ser178%3D MET RET 10 43615094 C/T 3.59 NM_020975.4 synonymous_variant NM_020975.4:c.2508C>T NM_020975.4:c.2508C>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2508C>T NP_066124.1:p.Ser836%3D RET MSH6 2 48025764 C/T 2.85 NM_000179.2 synonymous_variant NM_000179.2:c.642C>T NM_000179.2:c.642C>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.642C>T NP_000170.1:p.Tyr214%3D MSH6 EGFR 7 55268916 C/T 14.18 NM_005228.3 synonymous_variant NM_005228.3:c.2982C>T NM_005228.3:c.2982C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2982C>T NP_005219.2:p.Asp994%3D EGFR SBDS 7 66459256 T/C 5.03 NM_016038.2 synonymous_variant NM_016038.2:c.201A>G NM_016038.2:c.201A>G(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.201A>G NP_057122.2:p.Lys67%3D SBDS PTCH1 9 98238358 G/A 9.18 NM_000264.3 synonymous_variant NM_000264.3:c.1686C>T NM_000264.3:c.1686C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.1686C>T NP_000255.2:p.Ala562%3D PTCH1 PRF1 10 72358655 G/A 11.26 NM_005041.4 synonymous_variant NM_005041.4:c.822C>T NM_005041.4:c.822C>T(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.822C>T NP_005032.2:p.Ala274%3D PRF1 EXT1 8 118832020 A/A 12.02 NM_000127.2 synonymous_variant NM_000127.2:c.1431C>T NM_000127.2:c.1431C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1431C>T NP_000118.2:p.Pro477%3D EXT1 NF1 17 29553485 G/A 49.68 NM_001042492.2 synonymous_variant NM_001042492.2:c.2034G>A NM_001042492.2:c.2034G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2034G>A NP_000258.1:p.Pro678%3D NF1 WRN 8 31024638 C/T 27.36 NM_000553.4 synonymous_variant NM_000553.4:c.4083C>T NM_000553.4:c.4083C>T(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.4083C>T NP_000544.2:p.Ser1361%3D WRN NBN 8 90958422 T/C 35.28 NM_002485.4 synonymous_variant NM_002485.4:c.2016A>G NM_002485.4:c.2016A>G(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.2016A>G NP_002476.2:p.Pro672%3D NBN NBN 8 90995019 T/T 37.92 NM_002485.4 synonymous_variant NM_002485.4:c.102G>A NM_002485.4:c.102G>A(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.102G>A NP_002476.2:p.Leu34%3D NBN BUB1B 15 40488851 A/A 19.07 NM_001211.5 synonymous_variant NM_001211.5:c.1164G>A NM_001211.5:c.1164G>A(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.1164G>A NP_001202.4:p.Ala388%3D BUB1B EGFR 7 55238874 A/A 39.04 NM_005228.3 synonymous_variant NM_005228.3:c.1887T>A NM_005228.3:c.1887T>A(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.1887T>A NP_005219.2:p.Thr629%3D EGFR FANCI 15 89858602 T/C 41.23 NM_001113378.1 synonymous_variant NM_001113378.1:c.3906T>C NM_001113378.1:c.3906T>C(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.3906T>C NP_001106849.1:p.Gly1302%3D FANCI RECQL4 8 145741765 A/A 37 NM_004260.3 synonymous_variant NM_004260.3:c.738C>T NM_004260.3:c.738C>T(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.738C>T NP_004251.3:p.Ser246%3D RECQL4 SLX4 16 3639139 A/G 26.04 NM_032444.2 synonymous_variant NM_032444.2:c.4500T>C NM_032444.2:c.4500T>C(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.4500T>C NP_115820.2:p.Asn1500%3D SLX4 BRIP1 17 59760996 G/G 37.92 NM_032043.2 synonymous_variant NM_032043.2:c.3411T>C NM_032043.2:c.3411T>C(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.3411T>C NP_114432.2:p.Tyr1137%3D BRIP1 PRF1 10 72358577 A/A 30.41 NM_005041.4 synonymous_variant NM_005041.4:c.900C>T NM_005041.4:c.900C>T(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.900C>T NP_005032.2:p.His300%3D PRF1 NF1 17 29508775 G/A 48.82 NM_001042492.2 synonymous_variant NM_001042492.2:c.702G>A NM_001042492.2:c.702G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.702G>A NP_000258.1:p.Leu234%3D NF1 ALK 2 29940529 A/T 41.07 NM_004304.4 synonymous_variant NM_004304.4:c.702T>A NM_004304.4:c.702T>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.702T>A NP_004295.2:p.Pro234%3D ALK PMS2 7 6036980 G/C 16.87 NM_000535.5 synonymous_variant NM_000535.5:c.780C>G NM_000535.5:c.780C>G(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.780C>G NP_000526.1:p.Ser260%3D PMS2 NSD1 5 176637149 A/A 0 NM_022455.4 synonymous_variant NM_022455.4:c.1749G>A NM_022455.4:c.1749G>A(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.1749G>A NP_071900.2:p.Glu583%3D NSD1 TP53 17 7579579 C/T 0.76 NM_000546.5 synonymous_variant NM_000546.5:c.108G>A NM_000546.5:c.108G>A(p.=) NM_000546.5 synonymous_variant NM_000546.5:c.108G>A NP_000537.3:p.Pro36%3D TP53 DIS3L2 2 232952286 A/G 11.24 NM_152383.4 synonymous_variant NM_152383.4:c.456A>G NM_152383.4:c.456A>G(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.456A>G NP_689596.4:p.Gln152%3D DIS3L2 PTCH1 9 98238379 A/G 11.16 NM_000264.3 synonymous_variant NM_000264.3:c.1665T>C NM_000264.3:c.1665T>C(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.1665T>C NP_000255.2:p.Asn555%3D PTCH1 SMARCB1 22 24167513 G/A 10.52 NM_003073.3 synonymous_variant NM_003073.3:c.897G>A NM_003073.3:c.897G>A(p.=) NM_003073.3 synonymous_variant NM_003073.3:c.897G>A NP_003064.2:p.Ser299%3D SMARCB1 NSD1 5 176636882 T/T 46.81 NM_022455.4 synonymous_variant NM_022455.4:c.1482C>T NM_022455.4:c.1482C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.1482C>T NP_071900.2:p.Cys494%3D NSD1 PRF1 10 72358655 A/A 11.26 NM_005041.4 synonymous_variant NM_005041.4:c.822C>T NM_005041.4:c.822C>T(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.822C>T NP_005032.2:p.Ala274%3D PRF1 WRN 8 31024638 T/T 27.36 NM_000553.4 synonymous_variant NM_000553.4:c.4083C>T NM_000553.4:c.4083C>T(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.4083C>T NP_000544.2:p.Ser1361%3D WRN NBN 8 90958422 C/C 35.28 NM_002485.4 synonymous_variant NM_002485.4:c.2016A>G NM_002485.4:c.2016A>G(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.2016A>G NP_002476.2:p.Pro672%3D NBN HRAS 11 534242 A/G 29.71 NM_005343.2 synonymous_variant NM_005343.2:c.81T>C NM_005343.2:c.81T>C(p.=) NM_005343.2 synonymous_variant NM_005343.2:c.81T>C NP_005334.1:p.His27%3D HRAS BUB1B 15 40488851 G/A 19.07 NM_001211.5 synonymous_variant NM_001211.5:c.1164G>A NM_001211.5:c.1164G>A(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.1164G>A NP_001202.4:p.Ala388%3D BUB1B NBN 8 90967711 G/G 39.14 NM_002485.4 synonymous_variant NM_002485.4:c.1197T>C NM_002485.4:c.1197T>C(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.1197T>C NP_002476.2:p.Asp399%3D NBN EXT1 8 118819578 C/T 33.85 NM_000127.2 synonymous_variant NM_000127.2:c.1761G>A NM_000127.2:c.1761G>A(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1761G>A NP_000118.2:p.Glu587%3D EXT1 HNF1A 12 121416622 G/G 42.85 NM_000545.5 synonymous_variant NM_000545.5:c.51C>G NM_000545.5:c.51C>G(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.51C>G NP_000536.5:p.Leu17%3D HNF1A BIVM-ERCC5,ERCC5 13 103504517 T/C 49.3 NM_001204425.1 synonymous_variant NM_001204425.1:c.1500T>C NM_001204425.1:c.1500T>C(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.138T>C NP_000114.2:p.His46%3D ERCC5 EGFR 7 55266417 T/C 8.33 NM_005228.3 synonymous_variant NM_005228.3:c.2709T>C NM_005228.3:c.2709T>C(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2709T>C NP_005219.2:p.Thr903%3D EGFR ALK 2 29543663 T/C 22.34 NM_004304.4 synonymous_variant NM_004304.4:c.1500A>G NM_004304.4:c.1500A>G(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.1500A>G NP_004295.2:p.Gln500%3D ALK APC 5 112178492 C/T 0 NM_000038.5 synonymous_variant NM_000038.5:c.7201C>T NM_000038.5:c.7201C>T(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.7201C>T NP_000029.2:p.Leu2401%3D APC BRIP1 17 59763261 C/T 0 NM_032043.2 synonymous_variant NM_032043.2:c.2841G>A NM_032043.2:c.2841G>A(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.2841G>A NP_114432.2:p.Gln947%3D BRIP1 CDH1 16 68835754 G/A 0.26 NM_004360.3 synonymous_variant NM_004360.3:c.345G>A NM_004360.3:c.345G>A(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.345G>A NP_004351.1:p.Thr115%3D CDH1 TP53 17 7578210 T/C 0.54 NM_000546.5 synonymous_variant NM_000546.5:c.639A>G NM_000546.5:c.639A>G(p.=) NM_000546.5 synonymous_variant NM_000546.5:c.639A>G NP_000537.3:p.Arg213%3D TP53 ALK 2 29445458 T/T 41.59 NM_004304.4 synonymous_variant NM_004304.4:c.3375C>A NM_004304.4:c.3375C>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3375C>A NP_004295.2:p.Gly1125%3D ALK NBN 8 90995019 C/T 37.92 NM_002485.4 synonymous_variant NM_002485.4:c.102G>A NM_002485.4:c.102G>A(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.102G>A NP_002476.2:p.Leu34%3D NBN MET 7 116435768 C/T 35.22 NM_001127500.1 synonymous_variant NM_001127500.1:c.3912C>T NM_001127500.1:c.3912C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.3858C>T NP_000236.2:p.Asp1286%3D MET MET 7 116436022 G/A 35.38 NM_001127500.1 synonymous_variant NM_001127500.1:c.4071G>A NM_001127500.1:c.4071G>A(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.4017G>A NP_000236.2:p.Ala1339%3D MET MET 7 116436097 G/A 35.46 NM_001127500.1 synonymous_variant NM_001127500.1:c.4146G>A NM_001127500.1:c.4146G>A(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.4092G>A NP_000236.2:p.Pro1364%3D MET ERCC2 19 45868309 G/G 36.38 NM_000400.3 synonymous_variant NM_000400.3:c.468A>C NM_000400.3:c.468A>C(p.=) NM_000400.3 synonymous_variant NM_000400.3:c.468A>C NP_000391.1:p.Arg156%3D ERCC2 BRIP1 17 59763465 T/C 18.49 NM_032043.2 synonymous_variant NM_032043.2:c.2637A>G NM_032043.2:c.2637A>G(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.2637A>G NP_114432.2:p.Glu879%3D BRIP1 WRN 8 30924557 T/T 31.27 NM_000553.4 synonymous_variant NM_000553.4:c.513C>T NM_000553.4:c.513C>T(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.513C>T NP_000544.2:p.Cys171%3D WRN ALK 2 29455267 A/G 50 NM_004304.4 synonymous_variant NM_004304.4:c.2535T>C NM_004304.4:c.2535T>C(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2535T>C NP_004295.2:p.Gly845%3D ALK TP53 17 7574013 G/A 0.02 NM_000546.5 synonymous_variant NM_000546.5:c.1014C>T NM_000546.5:c.1014C>T(p.=) NM_000546.5 synonymous_variant NM_000546.5:c.1014C>T NP_000537.3:p.Phe338%3D TP53 NF1 17 29657461 G/A 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.5757G>A NM_001042492.2:c.5757G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.5694G>A NP_000258.1:p.Glu1898%3D NF1 SLX4 16 3658876 G/A 0.48 NM_032444.2 synonymous_variant NM_032444.2:c.90C>T NM_032444.2:c.90C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.90C>T NP_115820.2:p.Ser30%3D SLX4 FLCN 17 17125868 T/A 2.78 NM_144997.5 synonymous_variant NM_144997.5:c.726A>T NM_144997.5:c.726A>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.726A>T NP_659434.2:p.Thr242%3D FLCN DIS3L2 2 233199107 C/T 3.69 NM_152383.4 synonymous_variant NM_152383.4:c.2187C>T NM_152383.4:c.2187C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2187C>T NP_689596.4:p.Pro729%3D DIS3L2 PALB2 16 23619235 A/C 1.76 NM_024675.3 synonymous_variant NM_024675.3:c.3300T>G NM_024675.3:c.3300T>G(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.3300T>G NP_078951.2:p.Thr1100%3D PALB2 DIS3L2 2 233075081 C/T 1.54 NM_152383.4 synonymous_variant NM_152383.4:c.1170C>T NM_152383.4:c.1170C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1170C>T NP_689596.4:p.Leu390%3D DIS3L2 DIS3L2 2 233201328 A/G 20.21 NM_152383.4 synonymous_variant NM_152383.4:c.2646A>G NM_152383.4:c.2646A>G(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2646A>G NP_689596.4:p.Ser882%3D DIS3L2 TSC2 16 2138269 T/C 27.64 NM_000548.3 synonymous_variant NM_000548.3:c.5202T>C NM_000548.3:c.5202T>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.5202T>C NP_000539.2:p.Asp1734%3D TSC2 BRCA2 13 32929232 G/G 23.26 NM_000059.3 synonymous_variant NM_000059.3:c.7242A>G NM_000059.3:c.7242A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.7242A>G NP_000050.2:p.Ser2414%3D BRCA2 BRCA2 13 32911888 G/G 26.68 NM_000059.3 synonymous_variant NM_000059.3:c.3396A>G NM_000059.3:c.3396A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.3396A>G NP_000050.2:p.Lys1132%3D BRCA2 WRN 8 30973957 T/T 47.12 NM_000553.4 synonymous_variant NM_000553.4:c.2361G>T NM_000553.4:c.2361G>T(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.2361G>T NP_000544.2:p.Leu787%3D WRN DDB2 11 47259417 T/C 0.02 NM_000107.2 synonymous_variant NM_000107.2:c.1053T>C NM_000107.2:c.1053T>C(p.=) NM_000107.2 synonymous_variant NM_000107.2:c.1053T>C NP_000098.1:p.Ile351%3D DDB2 CDH1 16 68862204 C/T 0.18 NM_004360.3 synonymous_variant NM_004360.3:c.2292C>T NM_004360.3:c.2292C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.2292C>T NP_004351.1:p.Asp764%3D CDH1 APC 5 112176556 G/A 0.42 NM_000038.5 synonymous_variant NM_000038.5:c.5265G>A NM_000038.5:c.5265G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5265G>A NP_000029.2:p.Ala1755%3D APC NSD1 5 176637192 T/C 1.34 NM_022455.4 synonymous_variant NM_022455.4:c.1792T>C NM_022455.4:c.1792T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.1792T>C NP_071900.2:p.Leu598%3D NSD1 FANCD2 3 10106539 C/G 0.5 NM_033084.3 synonymous_variant NM_033084.3:c.2148C>G NM_033084.3:c.2148C>G(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2148C>G NP_149075.2:p.Thr716%3D FANCD2 MEN1 11 64577147 G/A 1.06 NM_130803.2 synonymous_variant NM_130803.2:c.435C>T NM_130803.2:c.435C>T(p.=) NM_130799.2 synonymous_variant NM_130799.2:c.435C>T NP_570711.1:p.Ser145%3D MEN1 WT1 11 32456298 G/A 12.12 NM_024426.4 synonymous_variant NM_024426.4:c.594C>T NM_024426.4:c.594C>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.594C>T NP_077744.3:p.Asn198%3D WT1 BRCA2 13 32912299 C/C 16.81 NM_000059.3 synonymous_variant NM_000059.3:c.3807T>C NM_000059.3:c.3807T>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.3807T>C NP_000050.2:p.Val1269%3D BRCA2 HNF1A 12 121435342 T/T 31.67 NM_000545.5 synonymous_variant NM_000545.5:c.1375C>T NM_000545.5:c.1375C>T(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.1375C>T NP_000536.5:p.Leu459%3D HNF1A PHOX2B 4 41748019 C/T 0.86 NM_003924.3 synonymous_variant NM_003924.3:c.750G>A NM_003924.3:c.750G>A(p.=) NM_003924.3 synonymous_variant NM_003924.3:c.750G>A NP_003915.2:p.Ala250%3D PHOX2B BRCA1 17 41245667 G/C 0 NM_007300.3 synonymous_variant NM_007300.3:c.1881C>G NM_007300.3:c.1881C>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.1881C>G NP_009225.1:p.Val627%3D BRCA1 BLM 15 91337479 G/A 15.12 NM_000057.2 synonymous_variant NM_000057.2:c.3102G>A NM_000057.2:c.3102G>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3102G>A NP_000048.1:p.Thr1034%3D BLM BLM 15 91346923 C/A 13.32 NM_000057.2 synonymous_variant NM_000057.2:c.3531C>A NM_000057.2:c.3531C>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3531C>A NP_000048.1:p.Ala1177%3D BLM BLM 15 91354505 C/T 13.28 NM_000057.2 synonymous_variant NM_000057.2:c.3945C>T NM_000057.2:c.3945C>T(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3945C>T NP_000048.1:p.Leu1315%3D BLM NSD1 5 176721272 C/C 10.8 NM_022455.4 synonymous_variant NM_022455.4:c.6903G>C NM_022455.4:c.6903G>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.6903G>C NP_071900.2:p.Gly2301%3D NSD1 HNF1A 12 121432117 C/C 18.11 NM_000545.5 synonymous_variant NM_000545.5:c.864G>C NM_000545.5:c.864G>C(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.864G>C NP_000536.5:p.Gly288%3D HNF1A TSC2 16 2124384 C/T 0.02 NM_000548.3 synonymous_variant NM_000548.3:c.2539C>T NM_000548.3:c.2539C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.2539C>T NP_000539.2:p.Leu847%3D TSC2 CEP57 11 95555133 A/G 1.6 NM_014679.4 synonymous_variant NM_014679.4:c.798A>G NM_014679.4:c.798A>G(p.=) NM_014679.4 synonymous_variant NM_014679.4:c.798A>G NP_055494.2:p.Pro266%3D CEP57 EGFR 7 55214348 T/T 47.54 NM_005228.3 synonymous_variant NM_005228.3:c.474C>T NM_005228.3:c.474C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.474C>T NP_005219.2:p.Asn158%3D EGFR APC 5 112164561 A/A 33.39 NM_000038.5 synonymous_variant NM_000038.5:c.1635G>A NM_000038.5:c.1635G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.1635G>A NP_000029.2:p.Ala545%3D APC APC 5 112175770 A/A 33.45 NM_000038.5 synonymous_variant NM_000038.5:c.4479G>A NM_000038.5:c.4479G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.4479G>A NP_000029.2:p.Thr1493%3D APC APC 5 112177171 A/A 33.35 NM_000038.5 synonymous_variant NM_000038.5:c.5880G>A NM_000038.5:c.5880G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5880G>A NP_000029.2:p.Pro1960%3D APC APC 5 112176559 G/G 33.31 NM_000038.5 synonymous_variant NM_000038.5:c.5268T>G NM_000038.5:c.5268T>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5268T>G NP_000029.2:p.Ser1756%3D APC APC 5 112176325 A/A 33.33 NM_000038.5 synonymous_variant NM_000038.5:c.5034G>A NM_000038.5:c.5034G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5034G>A NP_000029.2:p.Gly1678%3D APC PRF1 10 72360197 T/C 1.52 NM_005041.4 synonymous_variant NM_005041.4:c.462A>G NM_005041.4:c.462A>G(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.462A>G NP_005032.2:p.Ala154%3D PRF1 PRF1 10 72360224 C/T 1.28 NM_005041.4 synonymous_variant NM_005041.4:c.435G>A NM_005041.4:c.435G>A(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.435G>A NP_005032.2:p.Val145%3D PRF1 PTCH1 9 98231084 T/C 1.38 NM_000264.3 synonymous_variant NM_000264.3:c.2199A>G NM_000264.3:c.2199A>G(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.2199A>G NP_000255.2:p.Ser733%3D PTCH1 TMEM127 2 96919642 C/T 13.94 NM_017849.3 synonymous_variant NM_017849.3:c.621G>A NM_017849.3:c.621G>A(p.=) NM_017849.3 synonymous_variant NM_017849.3:c.621G>A NP_060319.1:p.Ala207%3D TMEM127 ALK 2 29445458 G/T 41.59 NM_004304.4 synonymous_variant NM_004304.4:c.3375C>A NM_004304.4:c.3375C>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3375C>A NP_004295.2:p.Gly1125%3D ALK BRCA1 17 41245466 A/A 33.65 NM_007300.3 synonymous_variant NM_007300.3:c.2082C>T NM_007300.3:c.2082C>T(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2082C>T NP_009225.1:p.Ser694%3D BRCA1 BRCA1 17 41245237 G/G 33.53 NM_007300.3 synonymous_variant NM_007300.3:c.2311T>C NM_007300.3:c.2311T>C(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2311T>C NP_009225.1:p.Leu771%3D BRCA1 BRCA1 17 41234470 G/G 33.63 NM_007300.3 synonymous_variant NM_007300.3:c.4308T>C NM_007300.3:c.4308T>C(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.4308T>C NP_009225.1:p.Ser1436%3D BRCA1 FANCE 6 35423662 A/C 22.2 NM_021922.2 synonymous_variant NM_021922.2:c.387A>C NM_021922.2:c.387A>C(p.=) NM_021922.2 synonymous_variant NM_021922.2:c.387A>C NP_068741.1:p.Pro129%3D FANCE FH 1 241667481 C/T 0 NM_000143.3 synonymous_variant NM_000143.3:c.969G>A NM_000143.3:c.969G>A(p.=) NM_000143.3 synonymous_variant NM_000143.3:c.969G>A NP_000134.2:p.Glu323%3D FH FANCD2 3 10085536 A/G 0 NM_033084.3 synonymous_variant NM_033084.3:c.1122A>G NM_033084.3:c.1122A>G(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1122A>G NP_149075.2:p.Val374%3D FANCD2 FANCD2 3 10091153 C/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.1509C>T NM_033084.3:c.1509C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1509C>T NP_149075.2:p.Asn503%3D FANCD2 FLCN 17 17118542 G/A 0 NM_144997.5 synonymous_variant NM_144997.5:c.1389C>T NM_144997.5:c.1389C>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.1389C>T NP_659434.2:p.Tyr463%3D FLCN FANCD2,FANCD2OS 3 10138069 T/G 24.22 NM_033084.3 synonymous_variant NM_033084.3:c.4098T>G NM_033084.3:c.4098T>G(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.4098T>G NP_149075.2:p.Leu1366%3D FANCD2 MSH6 2 48010558 A/A 6.91 NM_000179.2 synonymous_variant NM_000179.2:c.186C>A NM_000179.2:c.186C>A(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.186C>A NP_000170.1:p.Arg62%3D MSH6 MSH6 2 48018081 G/G 8.67 NM_000179.2 synonymous_variant NM_000179.2:c.276A>G NM_000179.2:c.276A>G(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.276A>G NP_000170.1:p.Pro92%3D MSH6 MET 7 116397572 A/G 18.79 NM_001127500.1 synonymous_variant NM_001127500.1:c.1944A>G NM_001127500.1:c.1944A>G(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.1944A>G NP_000236.2:p.Gln648%3D MET NF1 17 29553485 A/A 49.68 NM_001042492.2 synonymous_variant NM_001042492.2:c.2034G>A NM_001042492.2:c.2034G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2034G>A NP_000258.1:p.Pro678%3D NF1 MSH6 2 48023115 C/C 13.52 NM_000179.2 synonymous_variant NM_000179.2:c.540T>C NM_000179.2:c.540T>C(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.540T>C NP_000170.1:p.Asp180%3D MSH6 FANCI 15 89858602 C/C 41.23 NM_001113378.1 synonymous_variant NM_001113378.1:c.3906T>C NM_001113378.1:c.3906T>C(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.3906T>C NP_001106849.1:p.Gly1302%3D FANCI PTCH1 9 98268765 G/A 0.56 NM_000264.3 synonymous_variant NM_000264.3:c.318C>T NM_000264.3:c.318C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.318C>T NP_000255.2:p.Leu106%3D PTCH1 SBDS 7 66453460 G/A 1.82 NM_016038.2 synonymous_variant NM_016038.2:c.651C>T NM_016038.2:c.651C>T(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.651C>T NP_057122.2:p.Phe217%3D SBDS NSD1 5 176636882 C/T 46.81 NM_022455.4 synonymous_variant NM_022455.4:c.1482C>T NM_022455.4:c.1482C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.1482C>T NP_071900.2:p.Cys494%3D NSD1 ATM 11 108121446 A/G 2.62 NM_000051.3 synonymous_variant NM_000051.3:c.1254A>G NM_000051.3:c.1254A>G(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.1254A>G NP_000042.3:p.Gln418%3D ATM EXT1 8 118847782 A/A 17.39 NM_000127.2 synonymous_variant NM_000127.2:c.1065C>T NM_000127.2:c.1065C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1065C>T NP_000118.2:p.Cys355%3D EXT1 NSD1 5 176687030 C/T 0 NM_022455.4 synonymous_variant NM_022455.4:c.5007C>T NM_022455.4:c.5007C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.5007C>T NP_071900.2:p.His1669%3D NSD1 FANCE 6 35434083 G/A 0.2 NM_021922.2 synonymous_variant NM_021922.2:c.1572G>A NM_021922.2:c.1572G>A(p.=) NM_021922.2 synonymous_variant NM_021922.2:c.1572G>A NP_068741.1:p.Arg524%3D FANCE CDH1 16 68862165 T/T 5.45 NM_004360.3 synonymous_variant NM_004360.3:c.2253C>T NM_004360.3:c.2253C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.2253C>T NP_004351.1:p.Asn751%3D CDH1 SLX4 16 3650991 T/C 5.47 NM_032444.2 synonymous_variant NM_032444.2:c.1152A>G NM_032444.2:c.1152A>G(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1152A>G NP_115820.2:p.Pro384%3D SLX4 SLX4 16 3656680 G/A 4.19 NM_032444.2 synonymous_variant NM_032444.2:c.555C>T NM_032444.2:c.555C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.555C>T NP_115820.2:p.Asp185%3D SLX4 TSC2 16 2112521 C/A 0 NM_000548.3 synonymous_variant NM_000548.3:c.1281C>A NM_000548.3:c.1281C>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1281C>A NP_000539.2:p.Ile427%3D TSC2 FLCN 17 17117041 G/A 0 NM_144997.5 synonymous_variant NM_144997.5:c.1668C>T NM_144997.5:c.1668C>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.1668C>T NP_659434.2:p.Gly556%3D FLCN MET 7 116340269 C/T 6.21 NM_001127500.1 synonymous_variant NM_001127500.1:c.1131C>T NM_001127500.1:c.1131C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.1131C>T NP_000236.2:p.Ile377%3D MET CEBPA 19 33792631 C/A 13.28 NM_004364.3 synonymous_variant NM_004364.3:c.690G>T NM_004364.3:c.690G>T(p.=) NM_004364.3 synonymous_variant NM_004364.3:c.690G>T NP_004355.2:p.Thr230%3D CEBPA WT1 11 32439143 G/A 0 NM_024426.4 synonymous_variant NM_024426.4:c.930C>T NM_024426.4:c.930C>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.930C>T NP_077744.3:p.Asn310%3D WT1 CDH1 16 68856088 C/T 2.28 NM_004360.3 synonymous_variant NM_004360.3:c.1896C>T NM_004360.3:c.1896C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.1896C>T NP_004351.1:p.His632%3D CDH1 CDH1 16 68867387 C/T 1.78 NM_004360.3 synonymous_variant NM_004360.3:c.2634C>T NM_004360.3:c.2634C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.2634C>T NP_004351.1:p.Gly878%3D CDH1 APC 5 112175617 T/A 0.56 NM_000038.5 synonymous_variant NM_000038.5:c.4326T>A NM_000038.5:c.4326T>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.4326T>A NP_000029.2:p.Pro1442%3D APC FANCE 6 35426175 T/T 5.83 NM_021922.2 synonymous_variant NM_021922.2:c.1071C>T NM_021922.2:c.1071C>T(p.=) NM_021922.2 synonymous_variant NM_021922.2:c.1071C>T NP_068741.1:p.Leu357%3D FANCE TSC1 9 135771682 C/T 0.08 NM_000368.4 synonymous_variant NM_000368.4:c.3435G>A NM_000368.4:c.3435G>A(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.3435G>A NP_000359.1:p.Pro1145%3D TSC1 CDKN1C 11 2906192 C/G 0.04 NM_000076.2 synonymous_variant NM_000076.2:c.528G>C NM_000076.2:c.528G>C(p.=) NM_000076.2 synonymous_variant NM_000076.2:c.528G>C NP_000067.1:p.Ala176%3D CDKN1C WT1 11 32456694 A/A 30.17 NM_024426.4 synonymous_variant NM_024426.4:c.198G>T NM_024426.4:c.198G>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.198G>T NP_077744.3:p.Pro66%3D WT1 APC 5 112162854 C/C 49 NM_000038.5 synonymous_variant NM_000038.5:c.1458T>C NM_000038.5:c.1458T>C(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.1458T>C NP_000029.2:p.Tyr486%3D APC CYLD 16 50818324 A/G 0 NM_015247.2 synonymous_variant NM_015247.2:c.1911A>G NM_015247.2:c.1911A>G(p.=) NM_001042412.1 synonymous_variant NM_001042412.1:c.1902A>G NP_001035877.1:p.Gln634%3D CYLD ERCC3 2 128044511 A/G 0 NM_000122.1 synonymous_variant NM_000122.1:c.1110T>C NM_000122.1:c.1110T>C(p.=) NM_000122.1 synonymous_variant NM_000122.1:c.1110T>C NP_000113.1:p.Ser370%3D ERCC3 FANCA 16 89849279 C/T 0 NM_000135.2 synonymous_variant NM_000135.2:c.1614G>A NM_000135.2:c.1614G>A(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.1614G>A NP_000126.2:p.Gly538%3D FANCA RET 10 43615633 G/G 17.25 NM_020975.4 synonymous_variant NM_020975.4:c.2712C>G NM_020975.4:c.2712C>G(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2712C>G NP_066124.1:p.Ser904%3D RET SLX4 16 3656557 G/A 13.18 NM_032444.2 synonymous_variant NM_032444.2:c.678C>T NM_032444.2:c.678C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.678C>T NP_115820.2:p.His226%3D SLX4 WRN 8 30969247 G/A 0 NM_000553.4 synonymous_variant NM_000553.4:c.2205G>A NM_000553.4:c.2205G>A(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.2205G>A NP_000544.2:p.Leu735%3D WRN FANCD2 3 10106440 G/A 0 NM_033084.3 synonymous_variant NM_033084.3:c.2049G>A NM_033084.3:c.2049G>A(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2049G>A NP_149075.2:p.Leu683%3D FANCD2 APC 5 112174297 C/T 0 NM_000038.5 synonymous_variant NM_000038.5:c.3006C>T NM_000038.5:c.3006C>T(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.3006C>T NP_000029.2:p.Ala1002%3D APC EZH2 7 148507471 T/C 0 NM_004456.4 synonymous_variant NM_004456.4:c.1983A>G NM_004456.4:c.1983A>G(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.1983A>G NP_004447.2:p.Lys661%3D EZH2 BLM 15 91337479 A/A 15.12 NM_000057.2 synonymous_variant NM_000057.2:c.3102G>A NM_000057.2:c.3102G>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3102G>A NP_000048.1:p.Thr1034%3D BLM BLM 15 91346923 A/A 13.32 NM_000057.2 synonymous_variant NM_000057.2:c.3531C>A NM_000057.2:c.3531C>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3531C>A NP_000048.1:p.Ala1177%3D BLM BLM 15 91354505 T/T 13.28 NM_000057.2 synonymous_variant NM_000057.2:c.3945C>T NM_000057.2:c.3945C>T(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3945C>T NP_000048.1:p.Leu1315%3D BLM BIVM-ERCC5,ERCC5 13 103514630 T/A 0 NM_001204425.1 synonymous_variant NM_001204425.1:c.2493T>A NM_001204425.1:c.2493T>A(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.1131T>A NP_000114.2:p.Ala377%3D ERCC5 ALK 2 29449819 T/T 16.99 NM_004304.4 synonymous_variant NM_004304.4:c.3036G>A NM_004304.4:c.3036G>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3036G>A NP_004295.2:p.Thr1012%3D ALK MET 7 116397572 G/G 18.79 NM_001127500.1 synonymous_variant NM_001127500.1:c.1944A>G NM_001127500.1:c.1944A>G(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.1944A>G NP_000236.2:p.Gln648%3D MET FANCI 15 89824510 A/G 0 NM_001113378.1 synonymous_variant NM_001113378.1:c.1491A>G NM_001113378.1:c.1491A>G(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.1491A>G NP_001106849.1:p.Gln497%3D FANCI TSC2 16 2110805 G/A 0.36 NM_000548.3 synonymous_variant NM_000548.3:c.1110G>A NM_000548.3:c.1110G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1110G>A NP_000539.2:p.Gln370%3D TSC2 ALK 2 29443623 G/A 0.08 NM_004304.4 synonymous_variant NM_004304.4:c.3594C>T NM_004304.4:c.3594C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3594C>T NP_004295.2:p.Leu1198%3D ALK SLX4 16 3639676 C/T 1.52 NM_032444.2 synonymous_variant NM_032444.2:c.3963G>A NM_032444.2:c.3963G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3963G>A NP_115820.2:p.Pro1321%3D SLX4 STK11 19 1221264 T/C 0 NM_000455.4 synonymous_variant NM_000455.4:c.787T>C NM_000455.4:c.787T>C(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.787T>C NP_000446.1:p.Leu263%3D STK11 NSD1 5 176637149 G/A 0 NM_022455.4 synonymous_variant NM_022455.4:c.1749G>A NM_022455.4:c.1749G>A(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.1749G>A NP_071900.2:p.Glu583%3D NSD1 NSD1 5 176721198 T/C 22.86 NM_022455.4 synonymous_variant NM_022455.4:c.6829T>C NM_022455.4:c.6829T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.6829T>C NP_071900.2:p.Leu2277%3D NSD1 AIP 11 67257556 C/T 5.63 NM_003977.2 synonymous_variant NM_003977.2:c.516C>T NM_003977.2:c.516C>T(p.=) NM_003977.2 synonymous_variant NM_003977.2:c.516C>T NP_003968.2:p.Asp172%3D AIP NSD1 5 176639105 T/C 10.56 NM_022455.4 synonymous_variant NM_022455.4:c.3705T>C NM_022455.4:c.3705T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.3705T>C NP_071900.2:p.Asn1235%3D NSD1 PTCH1 9 98209458 G/A 0.36 NM_000264.3 synonymous_variant NM_000264.3:c.4080C>T NM_000264.3:c.4080C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.4080C>T NP_000255.2:p.Ser1360%3D PTCH1 RET 10 43597827 C/A 0.54 NM_020975.4 synonymous_variant NM_020975.4:c.375C>A NM_020975.4:c.375C>A(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.375C>A NP_066124.1:p.Val125%3D RET RHBDF2 17 74472998 G/A 8.87 NM_024599.5 synonymous_variant NM_024599.5:c.1116C>T NM_024599.5:c.1116C>T(p.=) NM_001005498.3 synonymous_variant NM_001005498.3:c.1029C>T NP_001005498.2:p.Gly343%3D RHBDF2 KIT 4 55599268 C/T 1.14 NM_000222.2 synonymous_variant NM_000222.2:c.2394C>T NM_000222.2:c.2394C>T(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.2394C>T NP_000213.1:p.Ile798%3D KIT ATM 11 108163487 C/T 1.54 NM_000051.3 synonymous_variant NM_000051.3:c.4578C>T NM_000051.3:c.4578C>T(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.4578C>T NP_000042.3:p.Pro1526%3D ATM TSC1 9 135772717 G/A 6.21 NM_000368.4 synonymous_variant NM_000368.4:c.2829C>T NM_000368.4:c.2829C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.2829C>T NP_000359.1:p.Ala943%3D TSC1 BRCA2 13 32912560 G/A 0.04 NM_000059.3 synonymous_variant NM_000059.3:c.4068G>A NM_000059.3:c.4068G>A(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.4068G>A NP_000050.2:p.Leu1356%3D BRCA2 ERCC4 16 14029577 G/C 0 NM_005236.2 synonymous_variant NM_005236.2:c.1788G>C NM_005236.2:c.1788G>C(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.1788G>C NP_005227.1:p.Ala596%3D ERCC4 BRCA1 17 41243801 G/A 0 NM_007300.3 synonymous_variant NM_007300.3:c.3747C>T NM_007300.3:c.3747C>T(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.3747C>T NP_009225.1:p.Thr1249%3D BRCA1 ALK 2 29416615 A/A 5.91 NM_004304.4 synonymous_variant NM_004304.4:c.4338C>T NM_004304.4:c.4338C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.4338C>T NP_004295.2:p.Thr1446%3D ALK EXT2 11 44265714 C/T 0 NM_000401.3 synonymous_variant NM_000401.3:c.2133C>T NM_000401.3:c.2133C>T(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.2034C>T NP_997005.1:p.Asn678%3D EXT2 BLM 15 91304325 A/G 0.76 NM_000057.2 synonymous_variant NM_000057.2:c.1722A>G NM_000057.2:c.1722A>G(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.1722A>G NP_000048.1:p.Leu574%3D BLM NF1 17 29483108 C/T 0.46 NM_001042492.2 synonymous_variant NM_001042492.2:c.168C>T NM_001042492.2:c.168C>T(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.168C>T NP_000258.1:p.Ser56%3D NF1 CHEK2 22 29130458 T/C 4.27 NM_001005735.1 synonymous_variant NM_001005735.1:c.252A>G NM_001005735.1:c.252A>G(p.=) NM_007194.3 synonymous_variant NM_007194.3:c.252A>G NP_009125.1:p.Glu84%3D CHEK2 TSC2 16 2106725 C/G 0.18 NM_000548.3 synonymous_variant NM_000548.3:c.729C>G NM_000548.3:c.729C>G(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.729C>G NP_000539.2:p.Leu243%3D TSC2 BRCA2 13 32906980 A/G 7.37 NM_000059.3 synonymous_variant NM_000059.3:c.1365A>G NM_000059.3:c.1365A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.1365A>G NP_000050.2:p.Ser455%3D BRCA2 BRCA2 13 32910721 T/C 7.35 NM_000059.3 synonymous_variant NM_000059.3:c.2229T>C NM_000059.3:c.2229T>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.2229T>C NP_000050.2:p.His743%3D BRCA2 PMS2 7 6026827 G/C 0.08 NM_000535.5 synonymous_variant NM_000535.5:c.1569C>G NM_000535.5:c.1569C>G(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.1569C>G NP_000526.1:p.Ser523%3D PMS2 BRCA2 13 32911030 A/C 0.1 NM_000059.3 synonymous_variant NM_000059.3:c.2538A>C NM_000059.3:c.2538A>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.2538A>C NP_000050.2:p.Ser846%3D BRCA2 FANCI 15 89828377 T/C 0.02 NM_001113378.1 synonymous_variant NM_001113378.1:c.1749T>C NM_001113378.1:c.1749T>C(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.1749T>C NP_001106849.1:p.Phe583%3D FANCI SBDS 7 66459316 G/A 1.38 NM_016038.2 synonymous_variant NM_016038.2:c.141C>T NM_016038.2:c.141C>T(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.141C>T NP_057122.2:p.Leu47%3D SBDS FANCI 15 89844664 C/T 0.18 NM_001113378.1 synonymous_variant NM_001113378.1:c.2997C>T NM_001113378.1:c.2997C>T(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2997C>T NP_001106849.1:p.Ser999%3D FANCI BRIP1 17 59760948 A/G 0.02 NM_032043.2 synonymous_variant NM_032043.2:c.3459T>C NM_032043.2:c.3459T>C(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.3459T>C NP_114432.2:p.Asp1153%3D BRIP1 FANCD2,FANCD2OS 3 10138069 G/G 24.22 NM_033084.3 synonymous_variant NM_033084.3:c.4098T>G NM_033084.3:c.4098T>G(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.4098T>G NP_149075.2:p.Leu1366%3D FANCD2 XPC 3 14212047 G/A 0.44 NM_004628.4 synonymous_variant NM_004628.4:c.303C>T NM_004628.4:c.303C>T(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.303C>T NP_004619.3:p.Asp101%3D XPC BAP1 3 52441269 C/T 0.1 NM_004656.3 synonymous_variant NM_004656.3:c.501G>A NM_004656.3:c.501G>A(p.=) NM_004656.3 synonymous_variant NM_004656.3:c.501G>A NP_004647.1:p.Ala167%3D BAP1 EGFR 7 55240803 C/T 0.14 NM_005228.3 synonymous_variant NM_005228.3:c.2047C>T NM_005228.3:c.2047C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2047C>T NP_005219.2:p.Leu683%3D EGFR MET 7 116339282 G/A 1.54 NM_001127500.1 synonymous_variant NM_001127500.1:c.144G>A NM_001127500.1:c.144G>A(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.144G>A NP_000236.2:p.Ala48%3D MET WRN 8 30938698 G/A 2.14 NM_000553.4 synonymous_variant NM_000553.4:c.1155G>A NM_000553.4:c.1155G>A(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.1155G>A NP_000544.2:p.Glu385%3D WRN BRCA2 13 32893344 A/G 0.2 NM_000059.3 synonymous_variant NM_000059.3:c.198A>G NM_000059.3:c.198A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.198A>G NP_000050.2:p.Gln66%3D BRCA2 RECQL4 8 145741960 C/T 0.08 NM_004260.3 synonymous_variant NM_004260.3:c.543G>A NM_004260.3:c.543G>A(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.543G>A NP_004251.3:p.Gln181%3D RECQL4 CDKN1C 11 2906165 G/G 22.24 NM_000076.2 synonymous_variant NM_000076.2:c.555T>C NM_000076.2:c.555T>C(p.=) NM_000076.2 synonymous_variant NM_000076.2:c.555T>C NP_000067.1:p.Ala185%3D CDKN1C FANCF 11 22646532 C/T 0.68 NM_022725.3 synonymous_variant NM_022725.3:c.825G>A NM_022725.3:c.825G>A(p.=) NM_022725.3 synonymous_variant NM_022725.3:c.825G>A NP_073562.1:p.Leu275%3D FANCF FANCI 15 89837139 G/T 7.89 NM_001113378.1 synonymous_variant NM_001113378.1:c.2367G>T NM_001113378.1:c.2367G>T(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2367G>T NP_001106849.1:p.Ala789%3D FANCI FANCI 15 89856158 T/C 0 NM_001113378.1 synonymous_variant NM_001113378.1:c.3675T>C NM_001113378.1:c.3675T>C(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.3675T>C NP_001106849.1:p.Tyr1225%3D FANCI TSC2 16 2125834 C/C 6.27 NM_000548.3 synonymous_variant NM_000548.3:c.2580T>C NM_000548.3:c.2580T>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.2580T>C NP_000539.2:p.Phe860%3D TSC2 PMS2 7 6042129 G/A 0 NM_000535.5 synonymous_variant NM_000535.5:c.492C>T NM_000535.5:c.492C>T(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.492C>T NP_000526.1:p.Ser164%3D PMS2 PMS2 7 6045569 T/C 0 NM_000535.5 synonymous_variant NM_000535.5:c.117A>G NM_000535.5:c.117A>G(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.117A>G NP_000526.1:p.Val39%3D PMS2 BIVM-ERCC5,ERCC5 13 103527869 C/T 0.08 NM_001204425.1 synonymous_variant NM_001204425.1:c.4539C>T NM_001204425.1:c.4539C>T(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.3177C>T NP_000114.2:p.Gly1059%3D ERCC5 SLX4 16 3640450 G/A 0.02 NM_032444.2 synonymous_variant NM_032444.2:c.3189C>T NM_032444.2:c.3189C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3189C>T NP_115820.2:p.Gly1063%3D SLX4 BRCA1 17 41245316 A/C 0.06 NM_007300.3 synonymous_variant NM_007300.3:c.2232T>G NM_007300.3:c.2232T>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2232T>G NP_009225.1:p.Ala744%3D BRCA1 RUNX1 21 36164486 G/C 5.83 NM_001754.4 synonymous_variant NM_001754.4:c.1389C>G NM_001754.4:c.1389C>G(p.=) NM_001754.4 synonymous_variant NM_001754.4:c.1389C>G NP_001745.2:p.Pro463%3D RUNX1 SLX4 16 3656482 T/T 23.08 NM_032444.2 synonymous_variant NM_032444.2:c.753G>A NM_032444.2:c.753G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.753G>A NP_115820.2:p.Ala251%3D SLX4 NF1 17 29652931 G/A 1.62 NM_001042492.2 synonymous_variant NM_001042492.2:c.4929G>A NM_001042492.2:c.4929G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.4866G>A NP_000258.1:p.Val1622%3D NF1 CEP57 11 95555088 G/A 1.52 NM_014679.4 synonymous_variant NM_014679.4:c.753G>A NM_014679.4:c.753G>A(p.=) NM_014679.4 synonymous_variant NM_014679.4:c.753G>A NP_055494.2:p.Pro251%3D CEP57 ERCC4 16 14042108 G/A 0.46 NM_005236.2 synonymous_variant NM_005236.2:c.2655G>A NM_005236.2:c.2655G>A(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.2655G>A NP_005227.1:p.Thr885%3D ERCC4 PTCH1 9 98242840 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.777C>T NM_000264.3:c.777C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.777C>T NP_000255.2:p.Phe259%3D PTCH1 AIP 11 67258449 G/A 0 NM_003977.2 synonymous_variant NM_003977.2:c.978G>A NM_003977.2:c.978G>A(p.=) NM_003977.2 synonymous_variant NM_003977.2:c.978G>A NP_003968.2:p.Gly326%3D AIP NSD1 5 176638457 C/A 0 NM_022455.4 synonymous_variant NM_022455.4:c.3057C>A NM_022455.4:c.3057C>A(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.3057C>A NP_071900.2:p.Arg1019%3D NSD1 FANCE 6 35426175 C/T 5.83 NM_021922.2 synonymous_variant NM_021922.2:c.1071C>T NM_021922.2:c.1071C>T(p.=) NM_021922.2 synonymous_variant NM_021922.2:c.1071C>T NP_068741.1:p.Leu357%3D FANCE WT1 11 32456562 A/A 30.39 NM_024426.4 synonymous_variant NM_024426.4:c.330C>T NM_024426.4:c.330C>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.330C>T NP_077744.3:p.Pro110%3D WT1 WT1 11 32417945 C/C 33.15 NM_024426.4 synonymous_variant NM_024426.4:c.1107A>G NM_024426.4:c.1107A>G(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.1107A>G NP_077744.3:p.Arg369%3D WT1 HNF1A 12 121437114 A/A 6.29 NM_000545.5 synonymous_variant NM_000545.5:c.1545G>A NM_000545.5:c.1545G>A(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.1545G>A NP_000536.5:p.Thr515%3D HNF1A BMPR1A 10 88679200 C/T 1.26 NM_004329.2 synonymous_variant NM_004329.2:c.1140C>T NM_004329.2:c.1140C>T(p.=) NM_004329.2 synonymous_variant NM_004329.2:c.1140C>T NP_004320.2:p.Asp380%3D BMPR1A FANCA 16 89858417 C/A 7.19 NM_000135.2 synonymous_variant NM_000135.2:c.1143G>T NM_000135.2:c.1143G>T(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.1143G>T NP_000126.2:p.Thr381%3D FANCA FANCA 16 89825065 G/A 7.21 NM_000135.2 synonymous_variant NM_000135.2:c.2901C>T NM_000135.2:c.2901C>T(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.2901C>T NP_000126.2:p.Ser967%3D FANCA NSD1 5 176637491 A/G 0 NM_022455.4 synonymous_variant NM_022455.4:c.2091A>G NM_022455.4:c.2091A>G(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.2091A>G NP_071900.2:p.Lys697%3D NSD1 ERCC3 2 128047304 G/A 0.02 NM_000122.1 synonymous_variant NM_000122.1:c.618C>T NM_000122.1:c.618C>T(p.=) NM_000122.1 synonymous_variant NM_000122.1:c.618C>T NP_000113.1:p.Ala206%3D ERCC3 NF2 22 30064348 T/C 0.02 NM_000268.3 synonymous_variant NM_000268.3:c.912T>C NM_000268.3:c.912T>C(p.=) NM_000268.3 synonymous_variant NM_000268.3:c.912T>C NP_000259.1:p.His304%3D NF2 BIVM-ERCC5,ERCC5 13 103514459 C/T 0.62 NM_001204425.1 synonymous_variant NM_001204425.1:c.2322C>T NM_001204425.1:c.2322C>T(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.960C>T NP_000114.2:p.Asp320%3D ERCC5 ERCC4 16 14041958 C/C 24.12 NM_005236.2 synonymous_variant NM_005236.2:c.2505T>C NM_005236.2:c.2505T>C(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.2505T>C NP_005227.1:p.Ser835%3D ERCC4 MSH2 2 47698108 T/C 0.22 NM_000251.2 synonymous_variant NM_000251.2:c.1666T>C NM_000251.2:c.1666T>C(p.=) NM_000251.2 synonymous_variant NM_000251.2:c.1666T>C NP_000242.1:p.Leu556%3D MSH2 PTEN 10 89653834 C/T 0.02 NM_000314.4 synonymous_variant NM_000314.4:c.132C>T NM_000314.4:c.132C>T(p.=) NM_000314.4 synonymous_variant NM_000314.4:c.132C>T NP_000305.3:p.Gly44%3D PTEN HNF1A 12 121431489 G/A 0.02 NM_000545.5 synonymous_variant NM_000545.5:c.693G>A NM_000545.5:c.693G>A(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.693G>A NP_000536.5:p.Thr231%3D HNF1A NF1 17 29486058 T/C 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.235T>C NM_001042492.2:c.235T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.235T>C NP_000258.1:p.Leu79%3D NF1 PRF1 10 72360140 C/T 0 NM_005041.4 synonymous_variant NM_005041.4:c.519G>A NM_005041.4:c.519G>A(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.519G>A NP_005032.2:p.Thr173%3D PRF1 NF2 22 30069341 C/T 0 NM_000268.3 synonymous_variant NM_000268.3:c.1206C>T NM_000268.3:c.1206C>T(p.=) NM_000268.3 synonymous_variant NM_000268.3:c.1206C>T NP_000259.1:p.Ala402%3D NF2 PHOX2B 4 41748007 T/G 5.45 NM_003924.3 synonymous_variant NM_003924.3:c.762A>C NM_003924.3:c.762A>C(p.=) NM_003924.3 synonymous_variant NM_003924.3:c.762A>C NP_003915.2:p.Ala254%3D PHOX2B TMEM127 2 96919642 T/T 13.94 NM_017849.3 synonymous_variant NM_017849.3:c.621G>A NM_017849.3:c.621G>A(p.=) NM_017849.3 synonymous_variant NM_017849.3:c.621G>A NP_060319.1:p.Ala207%3D TMEM127 MSH6 2 48027441 C/T 0 NM_000179.2 synonymous_variant NM_000179.2:c.2319C>T NM_000179.2:c.2319C>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.2319C>T NP_000170.1:p.Leu773%3D MSH6 MLH1 3 37055947 G/A 0.02 NM_000249.3 synonymous_variant NM_000249.3:c.702G>A NM_000249.3:c.702G>A(p.=) NM_000249.3 synonymous_variant NM_000249.3:c.702G>A NP_000240.1:p.Glu234%3D MLH1 FLCN 17 17117017 G/A 0.04 NM_144997.5 synonymous_variant NM_144997.5:c.1692C>T NM_144997.5:c.1692C>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.1692C>T NP_659434.2:p.His564%3D FLCN BUB1B 15 40453430 G/T 6.69 NM_001211.5 synonymous_variant NM_001211.5:c.9G>T NM_001211.5:c.9G>T(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.9G>T NP_001202.4:p.Ala3%3D BUB1B BUB1B 15 40468866 C/A 0 NM_001211.5 synonymous_variant NM_001211.5:c.573C>A NM_001211.5:c.573C>A(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.573C>A NP_001202.4:p.Ser191%3D BUB1B BUB1B,PAK6 15 40512906 A/G 9.58 NM_001211.5 synonymous_variant NM_001211.5:c.3099A>G NM_001211.5:c.3099A>G(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.3099A>G NP_001202.4:p.Lys1033%3D BUB1B NF1 17 29556279 T/C 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.2646T>C NM_001042492.2:c.2646T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2646T>C NP_000258.1:p.Ser882%3D NF1 ALK 2 29451889 G/A 0.16 NM_004304.4 synonymous_variant NM_004304.4:c.2676C>T NM_004304.4:c.2676C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2676C>T NP_004295.2:p.Ala892%3D ALK PTCH1 9 98209410 G/A 0.1 NM_000264.3 synonymous_variant NM_000264.3:c.4128C>T NM_000264.3:c.4128C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.4128C>T NP_000255.2:p.Ser1376%3D PTCH1 PTCH1 9 98242816 C/T 0 NM_000264.3 synonymous_variant NM_000264.3:c.801G>A NM_000264.3:c.801G>A(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.801G>A NP_000255.2:p.Glu267%3D PTCH1 ERCC4 16 14014127 C/T 0 NM_005236.2 synonymous_variant NM_005236.2:c.105C>T NM_005236.2:c.105C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.105C>T NP_005227.1:p.Cys35%3D ERCC4 DIS3L2 2 233201328 G/G 20.21 NM_152383.4 synonymous_variant NM_152383.4:c.2646A>G NM_152383.4:c.2646A>G(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2646A>G NP_689596.4:p.Ser882%3D DIS3L2 RET 10 43595912 T/C 0 NM_020975.4 synonymous_variant NM_020975.4:c.79T>C NM_020975.4:c.79T>C(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.79T>C NP_066124.1:p.Leu27%3D RET GPC3 X 132887665 A/G 0.03 NM_001164617.1 synonymous_variant NM_001164617.1:c.876T>C NM_001164617.1:c.876T>C(p.=) NM_004484.3 synonymous_variant NM_004484.3:c.876T>C NP_004475.1:p.Ile292%3D GPC3 SLX4 16 3639058 T/T 2.2 NM_032444.2 synonymous_variant NM_032444.2:c.4581G>A NM_032444.2:c.4581G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.4581G>A NP_115820.2:p.Pro1527%3D SLX4 SLX4 16 3639856 T/T 2.2 NM_032444.2 synonymous_variant NM_032444.2:c.3783G>A NM_032444.2:c.3783G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3783G>A NP_115820.2:p.Pro1261%3D SLX4 SLX4 16 3639676 T/T 1.52 NM_032444.2 synonymous_variant NM_032444.2:c.3963G>A NM_032444.2:c.3963G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3963G>A NP_115820.2:p.Pro1321%3D SLX4 PTCH1 9 98244242 C/C 0.94 NM_000264.3 synonymous_variant NM_000264.3:c.735A>G NM_000264.3:c.735A>G(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.735A>G NP_000255.2:p.Thr245%3D PTCH1 BUB1B 15 40462780 A/A 8.74 NM_001211.5 synonymous_variant NM_001211.5:c.282G>A NM_001211.5:c.282G>A(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.282G>A NP_001202.4:p.Lys94%3D BUB1B TSC2 16 2121911 C/T 0.04 NM_000548.3 synonymous_variant NM_000548.3:c.2073C>T NM_000548.3:c.2073C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.2073C>T NP_000539.2:p.Arg691%3D TSC2 TSC2 16 2130284 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.3516C>T NM_000548.3:c.3516C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.3516C>T NP_000539.2:p.Gly1172%3D TSC2 TP53 17 7578198 C/A 0 NM_000546.5 synonymous_variant NM_000546.5:c.651G>T NM_000546.5:c.651G>T(p.=) NM_000546.5 synonymous_variant NM_000546.5:c.651G>T NP_000537.3:p.Val217%3D TP53 KIT 4 55593481 A/G 2.14 NM_000222.2 synonymous_variant NM_000222.2:c.1638A>G NM_000222.2:c.1638A>G(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.1638A>G NP_000213.1:p.Lys546%3D KIT MSH2 2 47643476 C/T 0.78 NM_000251.2 synonymous_variant NM_000251.2:c.984C>T NM_000251.2:c.984C>T(p.=) NM_000251.2 synonymous_variant NM_000251.2:c.984C>T NP_000242.1:p.Ala328%3D MSH2 PRKAR1A 17 66522023 C/T 0.06 NM_212471.2 synonymous_variant NM_212471.2:c.678C>T NM_212471.2:c.678C>T(p.=) NM_002734.4 synonymous_variant NM_002734.4:c.678C>T NP_002725.1:p.Ile226%3D PRKAR1A ATM 11 108098592 T/C 0.12 NM_000051.3 synonymous_variant NM_000051.3:c.162T>C NM_000051.3:c.162T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.162T>C NP_000042.3:p.Tyr54%3D ATM FLCN 17 17119761 C/T 3.29 NM_144997.5 synonymous_variant NM_144997.5:c.1233G>A NM_144997.5:c.1233G>A(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.1233G>A NP_659434.2:p.Glu411%3D FLCN SMAD4 18 48591923 T/C 0.32 NM_005359.5 synonymous_variant NM_005359.5:c.1086T>C NM_005359.5:c.1086T>C(p.=) NM_005359.5 synonymous_variant NM_005359.5:c.1086T>C NP_005350.1:p.Phe362%3D SMAD4 TSC1 9 135772857 A/C 0 NM_000368.4 synonymous_variant NM_000368.4:c.2766T>G NM_000368.4:c.2766T>G(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.2766T>G NP_000359.1:p.Leu922%3D TSC1 ERCC4 16 14015932 C/T 0.54 NM_005236.2 synonymous_variant NM_005236.2:c.252C>T NM_005236.2:c.252C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.252C>T NP_005227.1:p.Leu84%3D ERCC4 SDHB 1 17380497 G/T 4.29 NM_003000.2 synonymous_variant NM_003000.2:c.18C>A NM_003000.2:c.18C>A(p.=) NM_003000.2 synonymous_variant NM_003000.2:c.18C>A NP_002991.2:p.Ala6%3D SDHB ALK 2 29455276 G/A 0.02 NM_004304.4 synonymous_variant NM_004304.4:c.2526C>T NM_004304.4:c.2526C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2526C>T NP_004295.2:p.Ala842%3D ALK TSC2 16 2108847 G/A 0.36 NM_000548.3 synonymous_variant NM_000548.3:c.948G>A NM_000548.3:c.948G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.948G>A NP_000539.2:p.Pro316%3D TSC2 ATM 11 108124628 T/C 0 NM_000051.3 synonymous_variant NM_000051.3:c.1986T>C NM_000051.3:c.1986T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.1986T>C NP_000042.3:p.Phe662%3D ATM HNF1A 12 121432120 C/A 0 NM_000545.5 synonymous_variant NM_000545.5:c.867C>A NM_000545.5:c.867C>A(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.867C>A NP_000536.5:p.Pro289%3D HNF1A SDHC 1 161326498 A/G 0 NM_003001.3 synonymous_variant NM_003001.3:c.273A>G NM_003001.3:c.273A>G(p.=) NM_003001.3 synonymous_variant NM_003001.3:c.273A>G NP_002992.1:p.Leu91%3D SDHC SDHC 1 161326531 T/C 0 NM_003001.3 synonymous_variant NM_003001.3:c.306T>C NM_003001.3:c.306T>C(p.=) NM_003001.3 synonymous_variant NM_003001.3:c.306T>C NP_002992.1:p.Leu102%3D SDHC FANCD2 3 10119791 C/G 0 NM_033084.3 synonymous_variant NM_033084.3:c.2886C>G NM_033084.3:c.2886C>G(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2886C>G NP_149075.2:p.Pro962%3D FANCD2 PALB2 16 23641708 C/T 0 NM_024675.3 synonymous_variant NM_024675.3:c.1767G>A NM_024675.3:c.1767G>A(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.1767G>A NP_078951.2:p.Thr589%3D PALB2 ALK 2 29416480 C/T 0 NM_004304.4 synonymous_variant NM_004304.4:c.4473G>A NM_004304.4:c.4473G>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.4473G>A NP_004295.2:p.Lys1491%3D ALK FANCM 14 45645467 G/A 0 NM_020937.2 synonymous_variant NM_020937.2:c.3510G>A NM_020937.2:c.3510G>A(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.3510G>A NP_065988.1:p.Thr1170%3D FANCM NF1 17 29587390 T/C 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.4434T>C NM_001042492.2:c.4434T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.4371T>C NP_000258.1:p.Phe1457%3D NF1 RET 10 43615094 T/T 3.59 NM_020975.4 synonymous_variant NM_020975.4:c.2508C>T NM_020975.4:c.2508C>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2508C>T NP_066124.1:p.Ser836%3D RET SMARCB1 22 24167513 A/A 10.52 NM_003073.3 synonymous_variant NM_003073.3:c.897G>A NM_003073.3:c.897G>A(p.=) NM_003073.3 synonymous_variant NM_003073.3:c.897G>A NP_003064.2:p.Ser299%3D SMARCB1 ERCC4 16 14022038 G/A 0.02 NM_005236.2 synonymous_variant NM_005236.2:c.738G>A NM_005236.2:c.738G>A(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.738G>A NP_005227.1:p.Ser246%3D ERCC4 BIVM-ERCC5,ERCC5 13 103524647 C/G 0.04 NM_001204425.1 synonymous_variant NM_001204425.1:c.4140C>G NM_001204425.1:c.4140C>G(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.2778C>G NP_000114.2:p.Gly926%3D ERCC5 BUB1B,PAK6 15 40512921 A/G 0 NM_001211.5 synonymous_variant NM_001211.5:c.3114A>G NM_001211.5:c.3114A>G(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.3114A>G NP_001202.4:p.Val1038%3D BUB1B PALB2 16 23634337 G/A 0 NM_024675.3 synonymous_variant NM_024675.3:c.2949C>T NM_024675.3:c.2949C>T(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.2949C>T NP_078951.2:p.Thr983%3D PALB2 PRF1 10 72357857 T/C 0.26 NM_005041.4 synonymous_variant NM_005041.4:c.1620A>G NM_005041.4:c.1620A>G(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.1620A>G NP_005032.2:p.Gln540%3D PRF1 ATM,C11ORF65 11 108180917 T/C 0.62 NM_000051.3 synonymous_variant NM_000051.3:c.5793T>C NM_000051.3:c.5793T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.5793T>C NP_000042.3:p.Ala1931%3D ATM DICER1 14 95595919 G/A 0 NM_177438.2 synonymous_variant NM_177438.2:c.624C>T NM_177438.2:c.624C>T(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.624C>T NP_803187.1:p.Ser208%3D DICER1 CDH1 16 68862165 C/T 5.45 NM_004360.3 synonymous_variant NM_004360.3:c.2253C>T NM_004360.3:c.2253C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.2253C>T NP_004351.1:p.Asn751%3D CDH1 BLM 15 91303501 G/T 0 NM_000057.2 synonymous_variant NM_000057.2:c.1212G>T NM_000057.2:c.1212G>T(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.1212G>T NP_000048.1:p.Arg404%3D BLM CDH1 16 68844165 G/A 0 NM_004360.3 synonymous_variant NM_004360.3:c.753G>A NM_004360.3:c.753G>A(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.753G>A NP_004351.1:p.Thr251%3D CDH1 ERCC2 19 45860618 C/T 0 NM_000400.3 synonymous_variant NM_000400.3:c.1389G>A NM_000400.3:c.1389G>A(p.=) NM_000400.3 synonymous_variant NM_000400.3:c.1389G>A NP_000391.1:p.Pro463%3D ERCC2 BRCA2 13 32912008 G/A 0.16 NM_000059.3 synonymous_variant NM_000059.3:c.3516G>A NM_000059.3:c.3516G>A(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.3516G>A NP_000050.2:p.Ser1172%3D BRCA2 APC 5 112176565 T/A 0.04 NM_000038.5 synonymous_variant NM_000038.5:c.5274T>A NM_000038.5:c.5274T>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5274T>A NP_000029.2:p.Ser1758%3D APC PTCH1 9 98221997 C/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.2772G>T NM_000264.3:c.2772G>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.2772G>T NP_000255.2:p.Thr924%3D PTCH1 EZH2 7 148511171 C/T 0.56 NM_004456.4 synonymous_variant NM_004456.4:c.1731G>A NM_004456.4:c.1731G>A(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.1731G>A NP_004447.2:p.Pro577%3D EZH2 FANCD2,FANCD2OS 3 10128824 C/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.3342C>T NM_033084.3:c.3342C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.3342C>T NP_149075.2:p.Ser1114%3D FANCD2 SLX4 16 3633163 G/A 0 NM_032444.2 synonymous_variant NM_032444.2:c.5088C>T NM_032444.2:c.5088C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.5088C>T NP_115820.2:p.Ile1696%3D SLX4 FANCD2 3 10107147 C/T 0.06 NM_033084.3 synonymous_variant NM_033084.3:c.2238C>T NM_033084.3:c.2238C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2238C>T NP_149075.2:p.Asn746%3D FANCD2 SLX4 16 3640477 C/T 6.71 NM_032444.2 synonymous_variant NM_032444.2:c.3162G>A NM_032444.2:c.3162G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3162G>A NP_115820.2:p.Ser1054%3D SLX4 FLCN 17 17125907 G/A 0 NM_144997.5 synonymous_variant NM_144997.5:c.687C>T NM_144997.5:c.687C>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.687C>T NP_659434.2:p.Phe229%3D FLCN TSC2 16 2138086 C/A 0.06 NM_000548.3 synonymous_variant NM_000548.3:c.5106C>A NM_000548.3:c.5106C>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.5106C>A NP_000539.2:p.Ile1702%3D TSC2 DIS3L2 2 232952256 C/T 0.48 NM_152383.4 synonymous_variant NM_152383.4:c.426C>T NM_152383.4:c.426C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.426C>T NP_689596.4:p.Pro142%3D DIS3L2 DIS3L2 2 233127979 T/C 0.5 NM_152383.4 synonymous_variant NM_152383.4:c.1488T>C NM_152383.4:c.1488T>C(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1488T>C NP_689596.4:p.His496%3D DIS3L2 EGFR 7 55229202 C/T 0.52 NM_005228.3 synonymous_variant NM_005228.3:c.1509C>T NM_005228.3:c.1509C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.1509C>T NP_005219.2:p.Gly503%3D EGFR SBDS 7 66459256 C/C 5.03 NM_016038.2 synonymous_variant NM_016038.2:c.201A>G NM_016038.2:c.201A>G(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.201A>G NP_057122.2:p.Lys67%3D SBDS MSH6 2 48026493 C/A 0 NM_000179.2 synonymous_variant NM_000179.2:c.1371C>A NM_000179.2:c.1371C>A(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.1371C>A NP_000170.1:p.Ala457%3D MSH6 PRKAR1A 17 66511627 G/A 0.78 NM_212471.2 synonymous_variant NM_212471.2:c.87G>A NM_212471.2:c.87G>A(p.=) NM_002734.4 synonymous_variant NM_002734.4:c.87G>A NP_002725.1:p.Ala29%3D PRKAR1A MSH6 2 48027849 G/A 0 NM_000179.2 synonymous_variant NM_000179.2:c.2727G>A NM_000179.2:c.2727G>A(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.2727G>A NP_000170.1:p.Leu909%3D MSH6 BRCA1 17 41246147 C/T 0 NM_007300.3 synonymous_variant NM_007300.3:c.1401G>A NM_007300.3:c.1401G>A(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.1401G>A NP_009225.1:p.Lys467%3D BRCA1 NF1 17 29654588 T/C 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.5340T>C NM_001042492.2:c.5340T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.5277T>C NP_000258.1:p.Asn1759%3D NF1 BIVM-ERCC5,ERCC5 13 103528088 A/G 0 NM_001204425.1 synonymous_variant NM_001204425.1:c.4758A>G NM_001204425.1:c.4758A>G(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.3396A>G NP_000114.2:p.Ser1132%3D ERCC5 ALK 2 29543699 G/A 0.4 NM_004304.4 synonymous_variant NM_004304.4:c.1464C>T NM_004304.4:c.1464C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.1464C>T NP_004295.2:p.Gly488%3D ALK RECQL4 8 145741968 G/A 0 NM_004260.3 synonymous_variant NM_004260.3:c.535C>T NM_004260.3:c.535C>T(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.535C>T NP_004251.3:p.Leu179%3D RECQL4 STK11 19 1220594 C/T 0 NM_000455.4 synonymous_variant NM_000455.4:c.612C>T NM_000455.4:c.612C>T(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.612C>T NP_000446.1:p.Phe204%3D STK11 CEBPA 19 33792919 C/T 0 NM_004364.3 synonymous_variant NM_004364.3:c.402G>A NM_004364.3:c.402G>A(p.=) NM_004364.3 synonymous_variant NM_004364.3:c.402G>A NP_004355.2:p.Ala134%3D CEBPA DIS3L2 2 233199155 G/A 0 NM_152383.4 synonymous_variant NM_152383.4:c.2235G>A NM_152383.4:c.2235G>A(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2235G>A NP_689596.4:p.Ala745%3D DIS3L2 PMS1 2 190670407 T/C 1.54 NM_000534.4 synonymous_variant NM_000534.4:c.345T>C NM_000534.4:c.345T>C(p.=) NM_000534.4 synonymous_variant NM_000534.4:c.345T>C NP_000525.1:p.Asp115%3D PMS1 BRCA2 13 32945198 T/C 0 NM_000059.3 synonymous_variant NM_000059.3:c.8593T>C NM_000059.3:c.8593T>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.8593T>C NP_000050.2:p.Leu2865%3D BRCA2 FANCI 15 89856143 T/C 0.08 NM_001113378.1 synonymous_variant NM_001113378.1:c.3660T>C NM_001113378.1:c.3660T>C(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.3660T>C NP_001106849.1:p.Ser1220%3D FANCI TSC2 16 2136842 C/T 0.34 NM_000548.3 synonymous_variant NM_000548.3:c.4959C>T NM_000548.3:c.4959C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4959C>T NP_000539.2:p.Ser1653%3D TSC2 XPC 3 14209774 C/T 0 NM_004628.4 synonymous_variant NM_004628.4:c.519G>A NM_004628.4:c.519G>A(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.519G>A NP_004619.3:p.Ala173%3D XPC EXT2 11 44129781 G/C 0.18 NM_000401.3 synonymous_variant NM_000401.3:c.618G>C NM_000401.3:c.618G>C(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.519G>C NP_997005.1:p.Ala173%3D EXT2 BRCA2 13 32893413 G/A 0 NM_000059.3 synonymous_variant NM_000059.3:c.267G>A NM_000059.3:c.267G>A(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.267G>A NP_000050.2:p.Pro89%3D BRCA2 MSH6 2 48028146 C/T 0 NM_000179.2 synonymous_variant NM_000179.2:c.3024C>T NM_000179.2:c.3024C>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.3024C>T NP_000170.1:p.Thr1008%3D MSH6 BRCA2 13 32907403 T/C 0.82 NM_000059.3 synonymous_variant NM_000059.3:c.1788T>C NM_000059.3:c.1788T>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.1788T>C NP_000050.2:p.Asp596%3D BRCA2 PMS1 2 190660536 G/T 0.06 NM_000534.4 synonymous_variant NM_000534.4:c.174G>T NM_000534.4:c.174G>T(p.=) NM_000534.4 synonymous_variant NM_000534.4:c.174G>T NP_000525.1:p.Gly58%3D PMS1 DICER1 14 95569719 C/T 0.04 NM_177438.2 synonymous_variant NM_177438.2:c.4014G>A NM_177438.2:c.4014G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.4014G>A NP_803187.1:p.Ala1338%3D DICER1 FANCI 15 89838176 T/G 0.1 NM_001113378.1 synonymous_variant NM_001113378.1:c.2487T>G NM_001113378.1:c.2487T>G(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2487T>G NP_001106849.1:p.Leu829%3D FANCI AIP 11 67258278 C/T 0.04 NM_003977.2 synonymous_variant NM_003977.2:c.807C>T NM_003977.2:c.807C>T(p.=) NM_003977.2 synonymous_variant NM_003977.2:c.807C>T NP_003968.2:p.Phe269%3D AIP PHOX2B 4 41747992 T/G 0 NM_003924.3 synonymous_variant NM_003924.3:c.777A>C NM_003924.3:c.777A>C(p.=) NM_003924.3 synonymous_variant NM_003924.3:c.777A>C NP_003915.2:p.Ala259%3D PHOX2B PHOX2B 4 41748217 G/A 0.86 NM_003924.3 synonymous_variant NM_003924.3:c.552C>T NM_003924.3:c.552C>T(p.=) NM_003924.3 synonymous_variant NM_003924.3:c.552C>T NP_003915.2:p.Ser184%3D PHOX2B DICER1 14 95569761 C/T 0.06 NM_177438.2 synonymous_variant NM_177438.2:c.3972G>A NM_177438.2:c.3972G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.3972G>A NP_803187.1:p.Lys1324%3D DICER1 HNF1A 12 121437108 C/T 0 NM_000545.5 synonymous_variant NM_000545.5:c.1539C>T NM_000545.5:c.1539C>T(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.1539C>T NP_000536.5:p.Thr513%3D HNF1A WT1 11 32456298 A/A 12.12 NM_024426.4 synonymous_variant NM_024426.4:c.594C>T NM_024426.4:c.594C>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.594C>T NP_077744.3:p.Asn198%3D WT1 MSH6 2 48030632 G/T 0.14 NM_000179.2 synonymous_variant NM_000179.2:c.3246G>T NM_000179.2:c.3246G>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.3246G>T NP_000170.1:p.Pro1082%3D MSH6 BMPR1A 10 88676926 C/A 0 NM_004329.2 synonymous_variant NM_004329.2:c.711C>A NM_004329.2:c.711C>A(p.=) NM_004329.2 synonymous_variant NM_004329.2:c.711C>A NP_004320.2:p.Val237%3D BMPR1A CHEK2 22 29130458 C/C 4.27 NM_001005735.1 synonymous_variant NM_001005735.1:c.252A>G NM_001005735.1:c.252A>G(p.=) NM_007194.3 synonymous_variant NM_007194.3:c.252A>G NP_009125.1:p.Glu84%3D CHEK2 NBN 8 90949286 T/C 0 NM_002485.4 synonymous_variant NM_002485.4:c.2202A>G NM_002485.4:c.2202A>G(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.2202A>G NP_002476.2:p.Ala734%3D NBN NSD1 5 176722355 C/T 0 NM_022455.4 synonymous_variant NM_022455.4:c.7986C>T NM_022455.4:c.7986C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.7986C>T NP_071900.2:p.Cys2662%3D NSD1 DIS3L2 2 233028241 C/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.1023C>T NM_152383.4:c.1023C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1023C>T NP_689596.4:p.Gly341%3D DIS3L2 CHEK2 22 29091841 G/A 0 NM_001005735.1 synonymous_variant NM_001005735.1:c.1245C>T NM_001005735.1:c.1245C>T(p.=) NM_007194.3 synonymous_variant NM_007194.3:c.1116C>T NP_009125.1:p.Ser372%3D CHEK2 TSC2 16 2114407 T/T 3.51 NM_000548.3 synonymous_variant NM_000548.3:c.1578C>T NM_000548.3:c.1578C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1578C>T NP_000539.2:p.Ser526%3D TSC2 TSC2 16 2134492 G/A 0.06 NM_000548.3 synonymous_variant NM_000548.3:c.4269G>A NM_000548.3:c.4269G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4269G>A NP_000539.2:p.Leu1423%3D TSC2 SDHB 1 17354307 C/T 0 NM_003000.2 synonymous_variant NM_003000.2:c.477G>A NM_003000.2:c.477G>A(p.=) NM_003000.2 synonymous_variant NM_003000.2:c.477G>A NP_002991.2:p.Lys159%3D SDHB FANCD2 3 10106494 G/T 0.04 NM_033084.3 synonymous_variant NM_033084.3:c.2103G>T NM_033084.3:c.2103G>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2103G>T NP_149075.2:p.Pro701%3D FANCD2 DIS3L2 2 233199346 T/C 0 NM_152383.4 synonymous_variant NM_152383.4:c.2295T>C NM_152383.4:c.2295T>C(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2295T>C NP_689596.4:p.Ser765%3D DIS3L2 NF1 17 29559196 G/A 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.3303G>A NM_001042492.2:c.3303G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.3303G>A NP_000258.1:p.Gln1101%3D NF1 FANCD2 3 10108991 G/A 0.76 NM_033084.3 synonymous_variant NM_033084.3:c.2484G>A NM_033084.3:c.2484G>A(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2484G>A NP_149075.2:p.Lys828%3D FANCD2 NF1 17 29509641 G/A 0.62 NM_001042492.2 synonymous_variant NM_001042492.2:c.846G>A NM_001042492.2:c.846G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.846G>A NP_000258.1:p.Gln282%3D NF1 PHOX2B 4 41747899 G/T 2.58 NM_003924.3 synonymous_variant NM_003924.3:c.870C>A NM_003924.3:c.870C>A(p.=) NM_003924.3 synonymous_variant NM_003924.3:c.870C>A NP_003915.2:p.Pro290%3D PHOX2B RET 10 43610100 G/A 0 NM_020975.4 synonymous_variant NM_020975.4:c.2052G>A NM_020975.4:c.2052G>A(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2052G>A NP_066124.1:p.Pro684%3D RET EXT1 8 118819560 G/A 0.04 NM_000127.2 synonymous_variant NM_000127.2:c.1779C>T NM_000127.2:c.1779C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1779C>T NP_000118.2:p.Pro593%3D EXT1 CDKN2A 9 21974758 A/C 0 NM_001195132.1 synonymous_variant NM_001195132.1:c.69T>G NM_001195132.1:c.69T>G(p.=) NM_058195.3 intron_variant NM_058195.3:c.194-3551T>G NA CDKN2A PMS2 7 6043386 A/A 11.36 NM_000535.5 synonymous_variant NM_000535.5:c.288C>T NM_000535.5:c.288C>T(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.288C>T NP_000526.1:p.Ala96%3D PMS2 ALK 2 29416357 G/A 2.31 NM_004304.4 synonymous_variant NM_004304.4:c.4596C>T NM_004304.4:c.4596C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.4596C>T NP_004295.2:p.Asn1532%3D ALK ALK 2 29474042 G/A 0.8 NM_004304.4 synonymous_variant NM_004304.4:c.2133C>T NM_004304.4:c.2133C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2133C>T NP_004295.2:p.Ser711%3D ALK MSH6 2 48026286 C/T 1.52 NM_000179.2 synonymous_variant NM_000179.2:c.1164C>T NM_000179.2:c.1164C>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.1164C>T NP_000170.1:p.His388%3D MSH6 MSH6 2 48027394 C/T 1.48 NM_000179.2 synonymous_variant NM_000179.2:c.2272C>T NM_000179.2:c.2272C>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.2272C>T NP_000170.1:p.Leu758%3D MSH6 PMS1 2 190719621 T/G 0 NM_000534.4 synonymous_variant NM_000534.4:c.1623T>G NM_000534.4:c.1623T>G(p.=) NM_000534.4 synonymous_variant NM_000534.4:c.1623T>G NP_000525.1:p.Leu541%3D PMS1 PMS2 7 6026908 G/A 3.17 NM_000535.5 synonymous_variant NM_000535.5:c.1488C>T NM_000535.5:c.1488C>T(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.1488C>T NP_000526.1:p.His496%3D PMS2 EXT1 8 119123172 T/C 1.56 NM_000127.2 synonymous_variant NM_000127.2:c.114A>G NM_000127.2:c.114A>G(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.114A>G NP_000118.2:p.Glu38%3D EXT1 FANCC 9 97934367 T/C 1.86 NM_000136.2 synonymous_variant NM_000136.2:c.408A>G NM_000136.2:c.408A>G(p.=) NM_000136.2 synonymous_variant NM_000136.2:c.408A>G NP_000127.2:p.Gln136%3D FANCC PTCH1 9 98211549 G/A 0.82 NM_000264.3 synonymous_variant NM_000264.3:c.3606C>T NM_000264.3:c.3606C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.3606C>T NP_000255.2:p.Pro1202%3D PTCH1 TSC1 9 135787706 G/A 0.1 NM_000368.4 synonymous_variant NM_000368.4:c.876C>T NM_000368.4:c.876C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.876C>T NP_000359.1:p.Val292%3D TSC1 TSC1 9 135801064 C/T 0.12 NM_000368.4 synonymous_variant NM_000368.4:c.273G>A NM_000368.4:c.273G>A(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.273G>A NP_000359.1:p.Ser91%3D TSC1 BMPR1A 10 88659788 G/A 4.13 NM_004329.2 synonymous_variant NM_004329.2:c.435G>A NM_004329.2:c.435G>A(p.=) NM_004329.2 synonymous_variant NM_004329.2:c.435G>A NP_004320.2:p.Pro145%3D BMPR1A ATM 11 108119770 C/G 1.9 NM_000051.3 synonymous_variant NM_000051.3:c.1176C>G NM_000051.3:c.1176C>G(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.1176C>G NP_000042.3:p.Gly392%3D ATM DICER1 14 95571479 A/G 1.68 NM_177438.2 synonymous_variant NM_177438.2:c.3198T>C NM_177438.2:c.3198T>C(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.3198T>C NP_803187.1:p.Thr1066%3D DICER1 DICER1 14 95582024 C/T 1.02 NM_177438.2 synonymous_variant NM_177438.2:c.1887G>A NM_177438.2:c.1887G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.1887G>A NP_803187.1:p.Thr629%3D DICER1 DICER1 14 95582033 T/A 0 NM_177438.2 synonymous_variant NM_177438.2:c.1878A>T NM_177438.2:c.1878A>T(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.1878A>T NP_803187.1:p.Thr626%3D DICER1 BUB1B 15 40494661 T/C 2.44 NM_001211.5 synonymous_variant NM_001211.5:c.1623T>C NM_001211.5:c.1623T>C(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.1623T>C NP_001202.4:p.Asn541%3D BUB1B BUB1B 15 40504837 C/T 2.42 NM_001211.5 synonymous_variant NM_001211.5:c.2523C>T NM_001211.5:c.2523C>T(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.2523C>T NP_001202.4:p.Cys841%3D BUB1B BUB1B,PAK6 15 40512906 G/G 9.58 NM_001211.5 synonymous_variant NM_001211.5:c.3099A>G NM_001211.5:c.3099A>G(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.3099A>G NP_001202.4:p.Lys1033%3D BUB1B TSC2 16 2137899 G/A 0.42 NM_000548.3 synonymous_variant NM_000548.3:c.5025G>A NM_000548.3:c.5025G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.5025G>A NP_000539.2:p.Pro1675%3D TSC2 SLX4 16 3639301 G/A 0.76 NM_032444.2 synonymous_variant NM_032444.2:c.4338C>T NM_032444.2:c.4338C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.4338C>T NP_115820.2:p.Thr1446%3D SLX4 ERCC4 16 14031695 A/G 1.54 NM_005236.2 synonymous_variant NM_005236.2:c.1884A>G NM_005236.2:c.1884A>G(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.1884A>G NP_005227.1:p.Glu628%3D ERCC4 BRCA1 17 41245439 T/C 0.16 NM_007300.3 synonymous_variant NM_007300.3:c.2109A>G NM_007300.3:c.2109A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2109A>G NP_009225.1:p.Thr703%3D BRCA1 BRCA1 17 41246783 C/T 0.1 NM_007300.3 synonymous_variant NM_007300.3:c.765G>A NM_007300.3:c.765G>A(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.765G>A NP_009225.1:p.Glu255%3D BRCA1 MET 7 116340269 T/T 6.21 NM_001127500.1 synonymous_variant NM_001127500.1:c.1131C>T NM_001127500.1:c.1131C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.1131C>T NP_000236.2:p.Ile377%3D MET PTCH1 9 98220322 A/C 6.75 NM_000264.3 synonymous_variant NM_000264.3:c.3141T>G NM_000264.3:c.3141T>G(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.3141T>G NP_000255.2:p.Leu1047%3D PTCH1 SLX4 16 3639058 C/T 2.2 NM_032444.2 synonymous_variant NM_032444.2:c.4581G>A NM_032444.2:c.4581G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.4581G>A NP_115820.2:p.Pro1527%3D SLX4 SLX4 16 3639856 C/T 2.2 NM_032444.2 synonymous_variant NM_032444.2:c.3783G>A NM_032444.2:c.3783G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3783G>A NP_115820.2:p.Pro1261%3D SLX4 BRCA2 13 32913055 A/G 2.6 NM_000059.3 synonymous_variant NM_000059.3:c.4563A>G NM_000059.3:c.4563A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.4563A>G NP_000050.2:p.Leu1521%3D BRCA2 BRCA2 13 32915005 G/C 2.6 NM_000059.3 synonymous_variant NM_000059.3:c.6513G>C NM_000059.3:c.6513G>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.6513G>C NP_000050.2:p.Val2171%3D BRCA2 PMS2 7 6026914 C/T 0 NM_000535.5 synonymous_variant NM_000535.5:c.1482G>A NM_000535.5:c.1482G>A(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.1482G>A NP_000526.1:p.Ser494%3D PMS2 WRN 8 31012190 G/A 0.02 NM_000553.4 synonymous_variant NM_000553.4:c.3738G>A NM_000553.4:c.3738G>A(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.3738G>A NP_000544.2:p.Leu1246%3D WRN TMEM127 2 96920713 T/C 0 NM_017849.3 synonymous_variant NM_017849.3:c.267A>G NM_017849.3:c.267A>G(p.=) NM_017849.3 synonymous_variant NM_017849.3:c.267A>G NP_060319.1:p.Thr89%3D TMEM127 BIVM-ERCC5,ERCC5 13 103514609 T/A 0.02 NM_001204425.1 synonymous_variant NM_001204425.1:c.2472T>A NM_001204425.1:c.2472T>A(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.1110T>A NP_000114.2:p.Arg370%3D ERCC5 ATM 11 108098402 T/C 0 NM_000051.3 synonymous_variant NM_000051.3:c.51T>C NM_000051.3:c.51T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.51T>C NP_000042.3:p.His17%3D ATM KIT 4 55592059 A/G 0.04 NM_000222.2 synonymous_variant NM_000222.2:c.1383A>G NM_000222.2:c.1383A>G(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.1383A>G NP_000213.1:p.Thr461%3D KIT FANCI 15 89835954 C/T 3.27 NM_001113378.1 synonymous_variant NM_001113378.1:c.2028C>T NM_001113378.1:c.2028C>T(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2028C>T NP_001106849.1:p.Ala676%3D FANCI TSC1 9 135771835 C/T 0.48 NM_000368.4 synonymous_variant NM_000368.4:c.3282G>A NM_000368.4:c.3282G>A(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.3282G>A NP_000359.1:p.Glu1094%3D TSC1 DIS3L2 2 233194694 A/C 0.14 NM_152383.4 synonymous_variant NM_152383.4:c.1911A>C NM_152383.4:c.1911A>C(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1911A>C NP_689596.4:p.Ala637%3D DIS3L2 FANCA 16 89871703 T/G 0.06 NM_000135.2 synonymous_variant NM_000135.2:c.694A>C NM_000135.2:c.694A>C(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.694A>C NP_000126.2:p.Arg232%3D FANCA EXT2 11 44129290 C/A 7.81 NM_000401.3 synonymous_variant NM_000401.3:c.127C>A NM_000401.3:c.127C>A(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.28C>A NP_997005.1:p.Arg10%3D EXT2 CDH1 16 68856088 T/T 2.28 NM_004360.3 synonymous_variant NM_004360.3:c.1896C>T NM_004360.3:c.1896C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.1896C>T NP_004351.1:p.His632%3D CDH1 CDH1 16 68867387 T/T 1.78 NM_004360.3 synonymous_variant NM_004360.3:c.2634C>T NM_004360.3:c.2634C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.2634C>T NP_004351.1:p.Gly878%3D CDH1 DICER1 14 95590985 G/A 0.12 NM_177438.2 synonymous_variant NM_177438.2:c.924C>T NM_177438.2:c.924C>T(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.924C>T NP_803187.1:p.Ala308%3D DICER1 TSC2 16 2136298 G/A 0 NM_000548.3 synonymous_variant NM_000548.3:c.4767G>A NM_000548.3:c.4767G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4767G>A NP_000539.2:p.Pro1589%3D TSC2 FANCM 14 45669205 T/C 2.81 NM_020937.2 synonymous_variant NM_020937.2:c.6141T>C NM_020937.2:c.6141T>C(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.6141T>C NP_065988.1:p.Asp2047%3D FANCM MUTYH 1 45800178 G/A 0 NM_001128425.1 synonymous_variant NM_001128425.1:c.42C>T NM_001128425.1:c.42C>T(p.=) NM_001048172.1 5_prime_UTR_variant NM_001048172.1:c.-1C>T NA MUTYH NSD1 5 176638730 C/T 0.18 NM_022455.4 synonymous_variant NM_022455.4:c.3330C>T NM_022455.4:c.3330C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.3330C>T NP_071900.2:p.Phe1110%3D NSD1 STK11 19 1226529 A/G 0 NM_000455.4 synonymous_variant NM_000455.4:c.1185A>G NM_000455.4:c.1185A>G(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.1185A>G NP_000446.1:p.Thr395%3D STK11 ERCC2 19 45868396 C/T 0 NM_000400.3 synonymous_variant NM_000400.3:c.381G>A NM_000400.3:c.381G>A(p.=) NM_000400.3 synonymous_variant NM_000400.3:c.381G>A NP_000391.1:p.Gly127%3D ERCC2 FLCN 17 17119725 G/A 0.04 NM_144997.5 synonymous_variant NM_144997.5:c.1269C>T NM_144997.5:c.1269C>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.1269C>T NP_659434.2:p.His423%3D FLCN MLH1 3 37090070 G/T 0.22 NM_000249.3 synonymous_variant NM_000249.3:c.1959G>T NM_000249.3:c.1959G>T(p.=) NM_000249.3 synonymous_variant NM_000249.3:c.1959G>T NP_000240.1:p.Leu653%3D MLH1 KIT 4 55602765 C/C 16.41 NM_000222.2 synonymous_variant NM_000222.2:c.2586G>C NM_000222.2:c.2586G>C(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.2586G>C NP_000213.1:p.Leu862%3D KIT MSH6 2 48033641 G/A 0 NM_000179.2 synonymous_variant NM_000179.2:c.3852G>A NM_000179.2:c.3852G>A(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.3852G>A NP_000170.1:p.Thr1284%3D MSH6 BRCA2 13 32913691 C/T 0.16 NM_000059.3 synonymous_variant NM_000059.3:c.5199C>T NM_000059.3:c.5199C>T(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.5199C>T NP_000050.2:p.Ser1733%3D BRCA2 PALB2 16 23641444 A/G 0 NM_024675.3 synonymous_variant NM_024675.3:c.2031T>C NM_024675.3:c.2031T>C(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.2031T>C NP_078951.2:p.Val677%3D PALB2 MLH1 3 37090445 C/T 0 NM_000249.3 synonymous_variant NM_000249.3:c.2040C>T NM_000249.3:c.2040C>T(p.=) NM_000249.3 synonymous_variant NM_000249.3:c.2040C>T NP_000240.1:p.Cys680%3D MLH1 FANCA 16 89845393 G/A 0 NM_000135.2 synonymous_variant NM_000135.2:c.1734C>T NM_000135.2:c.1734C>T(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.1734C>T NP_000126.2:p.Tyr578%3D FANCA XPC 3 14199700 G/A 0 NM_004628.4 synonymous_variant NM_004628.4:c.1683C>T NM_004628.4:c.1683C>T(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.1683C>T NP_004619.3:p.Tyr561%3D XPC EGFR,EGFR-AS1 7 55249057 C/T 0 NM_005228.3 synonymous_variant NM_005228.3:c.2355C>T NM_005228.3:c.2355C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2355C>T NP_005219.2:p.Thr785%3D EGFR SDHB 1 17355218 A/G 0.04 NM_003000.2 synonymous_variant NM_003000.2:c.300T>C NM_003000.2:c.300T>C(p.=) NM_003000.2 synonymous_variant NM_003000.2:c.300T>C NP_002991.2:p.Ser100%3D SDHB PMS1 2 190742024 A/G 0.22 NM_000534.4 synonymous_variant NM_000534.4:c.2661A>G NM_000534.4:c.2661A>G(p.=) NM_000534.4 synonymous_variant NM_000534.4:c.2661A>G NP_000525.1:p.Gln887%3D PMS1 ATM 11 108163382 C/T 0.1 NM_000051.3 synonymous_variant NM_000051.3:c.4473C>T NM_000051.3:c.4473C>T(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.4473C>T NP_000042.3:p.Phe1491%3D ATM KIT 4 55594062 G/A 0.02 NM_000222.2 synonymous_variant NM_000222.2:c.1848G>A NM_000222.2:c.1848G>A(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.1848G>A NP_000213.1:p.Ala616%3D KIT CEP57 11 95555133 G/G 1.6 NM_014679.4 synonymous_variant NM_014679.4:c.798A>G NM_014679.4:c.798A>G(p.=) NM_014679.4 synonymous_variant NM_014679.4:c.798A>G NP_055494.2:p.Pro266%3D CEP57 SLX4 16 3647422 C/T 0.02 NM_032444.2 synonymous_variant NM_032444.2:c.1641G>A NM_032444.2:c.1641G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1641G>A NP_115820.2:p.Thr547%3D SLX4 EGFR 7 55233089 T/T 4.21 NM_005228.3 synonymous_variant NM_005228.3:c.1839C>T NM_005228.3:c.1839C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.1839C>T NP_005219.2:p.Ala613%3D EGFR BLM 15 91295039 T/C 0 NM_000057.2 synonymous_variant NM_000057.2:c.822T>C NM_000057.2:c.822T>C(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.822T>C NP_000048.1:p.Asn274%3D BLM BRCA2 13 32911411 G/A 0.04 NM_000059.3 synonymous_variant NM_000059.3:c.2919G>A NM_000059.3:c.2919G>A(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.2919G>A NP_000050.2:p.Ser973%3D BRCA2 PMS1 2 190660533 C/T 0 NM_000534.4 synonymous_variant NM_000534.4:c.171C>T NM_000534.4:c.171C>T(p.=) NM_000534.4 synonymous_variant NM_000534.4:c.171C>T NP_000525.1:p.Asn57%3D PMS1 MSH6 2 48030686 G/C 0.02 NM_000179.2 synonymous_variant NM_000179.2:c.3300G>C NM_000179.2:c.3300G>C(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.3300G>C NP_000170.1:p.Thr1100%3D MSH6 XPC 3 14199571 G/A 0 NM_004628.4 synonymous_variant NM_004628.4:c.1812C>T NM_004628.4:c.1812C>T(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.1812C>T NP_004619.3:p.Ala604%3D XPC PTEN 10 89711961 G/A 0.04 NM_000314.4 synonymous_variant NM_000314.4:c.579G>A NM_000314.4:c.579G>A(p.=) NM_000314.4 synonymous_variant NM_000314.4:c.579G>A NP_000305.3:p.Leu193%3D PTEN DDB2 11 47256343 G/A 0.26 NM_000107.2 synonymous_variant NM_000107.2:c.738G>A NM_000107.2:c.738G>A(p.=) NM_000107.2 synonymous_variant NM_000107.2:c.738G>A NP_000098.1:p.Thr246%3D DDB2 ATM 11 108115587 C/T 0.36 NM_000051.3 synonymous_variant NM_000051.3:c.735C>T NM_000051.3:c.735C>T(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.735C>T NP_000042.3:p.Val245%3D ATM ERCC4 16 14029421 C/T 0 NM_005236.2 synonymous_variant NM_005236.2:c.1632C>T NM_005236.2:c.1632C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.1632C>T NP_005227.1:p.Phe544%3D ERCC4 BRCA2 13 32900250 A/G 0.02 NM_000059.3 synonymous_variant NM_000059.3:c.438A>G NM_000059.3:c.438A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.438A>G NP_000050.2:p.Leu146%3D BRCA2 TSC2 16 2129045 G/A 0.04 NM_000548.3 synonymous_variant NM_000548.3:c.2979G>A NM_000548.3:c.2979G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.2979G>A NP_000539.2:p.Thr993%3D TSC2 CDC73 1 193091363 C/T 0.02 NM_024529.4 synonymous_variant NM_024529.4:c.33C>T NM_024529.4:c.33C>T(p.=) NM_024529.4 synonymous_variant NM_024529.4:c.33C>T NP_078805.3:p.Tyr11%3D CDC73 CDH1 16 68835784 C/T 0 NM_004360.3 synonymous_variant NM_004360.3:c.375C>T NM_004360.3:c.375C>T(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.375C>T NP_004351.1:p.Pro125%3D CDH1 WRN 8 31004638 G/A 0.02 NM_000553.4 synonymous_variant NM_000553.4:c.3453G>A NM_000553.4:c.3453G>A(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.3453G>A NP_000544.2:p.Glu1151%3D WRN SDHC 1 161326564 C/T 0 NM_003001.3 synonymous_variant NM_003001.3:c.339C>T NM_003001.3:c.339C>T(p.=) NM_003001.3 synonymous_variant NM_003001.3:c.339C>T NP_002992.1:p.Ile113%3D SDHC BLM 15 91352464 G/A 0.08 NM_000057.2 synonymous_variant NM_000057.2:c.3849G>A NM_000057.2:c.3849G>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3849G>A NP_000048.1:p.Gln1283%3D BLM EGFR 7 55266456 C/T 0.06 NM_005228.3 synonymous_variant NM_005228.3:c.2748C>T NM_005228.3:c.2748C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2748C>T NP_005219.2:p.Asp916%3D EGFR PTCH1 9 98209653 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.3885C>T NM_000264.3:c.3885C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.3885C>T NP_000255.2:p.Pro1295%3D PTCH1 BRIP1 17 59760861 G/A 0 NM_032043.2 synonymous_variant NM_032043.2:c.3546C>T NM_032043.2:c.3546C>T(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.3546C>T NP_114432.2:p.Ala1182%3D BRIP1 WRN 8 31024671 G/A 0 NM_000553.4 synonymous_variant NM_000553.4:c.4116G>A NM_000553.4:c.4116G>A(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.4116G>A NP_000544.2:p.Arg1372%3D WRN TSC2 16 2134438 C/T 1.6 NM_000548.3 synonymous_variant NM_000548.3:c.4215C>T NM_000548.3:c.4215C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4215C>T NP_000539.2:p.Ala1405%3D TSC2 HNF1A 12 121435353 C/T 0.06 NM_000545.5 synonymous_variant NM_000545.5:c.1386C>T NM_000545.5:c.1386C>T(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.1386C>T NP_000536.5:p.Val462%3D HNF1A NF1 17 29552151 C/T 0.02 NM_001042492.2 synonymous_variant NM_001042492.2:c.1884C>T NM_001042492.2:c.1884C>T(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.1884C>T NP_000258.1:p.Tyr628%3D NF1 TSC2 16 2131729 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.3744C>T NM_000548.3:c.3744C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.3744C>T NP_000539.2:p.Ala1248%3D TSC2 BRCA1 17 41243960 T/G 0 NM_007300.3 synonymous_variant NM_007300.3:c.3588A>C NM_007300.3:c.3588A>C(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.3588A>C NP_009225.1:p.Thr1196%3D BRCA1 BRCA1 17 41223119 T/C 0.14 NM_007300.3 synonymous_variant NM_007300.3:c.4875A>G NM_007300.3:c.4875A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.4812A>G NP_009225.1:p.Gln1604%3D BRCA1 KIT 4 55599298 T/C 0 NM_000222.2 synonymous_variant NM_000222.2:c.2424T>C NM_000222.2:c.2424T>C(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.2424T>C NP_000213.1:p.Ile808%3D KIT APC 5 112177075 G/A 0 NM_000038.5 synonymous_variant NM_000038.5:c.5784G>A NM_000038.5:c.5784G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.5784G>A NP_000029.2:p.Gln1928%3D APC ALK 2 29448361 G/A 0 NM_004304.4 synonymous_variant NM_004304.4:c.3138C>T NM_004304.4:c.3138C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3138C>T NP_004295.2:p.Ala1046%3D ALK BRCA2 13 32914126 C/T 0 NM_000059.3 synonymous_variant NM_000059.3:c.5634C>T NM_000059.3:c.5634C>T(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.5634C>T NP_000050.2:p.Asn1878%3D BRCA2 BRCA1 17 41226379 C/T 0 NM_007300.3 synonymous_variant NM_007300.3:c.4707G>A NM_007300.3:c.4707G>A(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.4644G>A NP_009225.1:p.Thr1548%3D BRCA1 SLX4 16 3646275 C/T 0.8 NM_032444.2 synonymous_variant NM_032444.2:c.1803G>A NM_032444.2:c.1803G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1803G>A NP_115820.2:p.Ser601%3D SLX4 SLX4 16 3646323 G/A 0.78 NM_032444.2 synonymous_variant NM_032444.2:c.1755C>T NM_032444.2:c.1755C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1755C>T NP_115820.2:p.Pro585%3D SLX4 BRCA2 13 32913178 A/G 0.04 NM_000059.3 synonymous_variant NM_000059.3:c.4686A>G NM_000059.3:c.4686A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.4686A>G NP_000050.2:p.Gln1562%3D BRCA2 SMARCB1 22 24175804 C/T 0 NM_003073.3 synonymous_variant NM_003073.3:c.1032C>T NM_003073.3:c.1032C>T(p.=) NM_003073.3 synonymous_variant NM_003073.3:c.1032C>T NP_003064.2:p.Gly344%3D SMARCB1 SMAD4 18 48575100 C/T 0 NM_005359.5 synonymous_variant NM_005359.5:c.294C>T NM_005359.5:c.294C>T(p.=) NM_005359.5 synonymous_variant NM_005359.5:c.294C>T NP_005350.1:p.Leu98%3D SMAD4 NF1 17 29592271 A/G 0.02 NM_001042492.2 synonymous_variant NM_001042492.2:c.4749A>G NM_001042492.2:c.4749A>G(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.4686A>G NP_000258.1:p.Glu1562%3D NF1 VHL 3 10183714 C/G 0.04 NM_000551.3 synonymous_variant NM_000551.3:c.183C>G NM_000551.3:c.183C>G(p.=) NM_000551.3 synonymous_variant NM_000551.3:c.183C>G NP_000542.1:p.Pro61%3D VHL SLX4 16 3651144 G/A 0.88 NM_032444.2 synonymous_variant NM_032444.2:c.999C>T NM_032444.2:c.999C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.999C>T NP_115820.2:p.Ile333%3D SLX4 BRIP1 17 59876610 G/A 0 NM_032043.2 synonymous_variant NM_032043.2:c.1191C>T NM_032043.2:c.1191C>T(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.1191C>T NP_114432.2:p.Asn397%3D BRIP1 GPC3 X 132670290 C/T 0 NM_001164617.1 synonymous_variant NM_001164617.1:c.1674G>A NM_001164617.1:c.1674G>A(p.=) NM_004484.3 synonymous_variant NM_004484.3:c.1605G>A NP_004475.1:p.Ala535%3D GPC3 PTCH1 9 98222018 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.2751C>T NM_000264.3:c.2751C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.2751C>T NP_000255.2:p.Ser917%3D PTCH1 ATM 11 108143331 T/C 0.12 NM_000051.3 synonymous_variant NM_000051.3:c.3150T>C NM_000051.3:c.3150T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.3150T>C NP_000042.3:p.Leu1050%3D ATM FH 1 241680571 G/A 0 NM_000143.3 synonymous_variant NM_000143.3:c.178C>T NM_000143.3:c.178C>T(p.=) NM_000143.3 synonymous_variant NM_000143.3:c.178C>T NP_000134.2:p.Leu60%3D FH KIT 4 55561907 C/T 0 NM_000222.2 synonymous_variant NM_000222.2:c.297C>T NM_000222.2:c.297C>T(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.297C>T NP_000213.1:p.Asn99%3D KIT RET 10 43598049 C/T 0 NM_020975.4 synonymous_variant NM_020975.4:c.597C>T NM_020975.4:c.597C>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.597C>T NP_066124.1:p.Asn199%3D RET FLCN 17 17125886 G/A 0 NM_144997.5 synonymous_variant NM_144997.5:c.708C>T NM_144997.5:c.708C>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.708C>T NP_659434.2:p.Asn236%3D FLCN EGFR 7 55086988 G/C 0 NM_005228.3 synonymous_variant NM_005228.3:c.18G>C NM_005228.3:c.18G>C(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.18G>C NP_005219.2:p.Thr6%3D EGFR BRCA2 13 32930635 C/T 0 NM_000059.3 synonymous_variant NM_000059.3:c.7506C>T NM_000059.3:c.7506C>T(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.7506C>T NP_000050.2:p.Arg2502%3D BRCA2 TSC2 16 2134417 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.4194C>T NM_000548.3:c.4194C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4194C>T NP_000539.2:p.Leu1398%3D TSC2 GATA2 3 128199889 C/T 0 NM_032638.4 synonymous_variant NM_032638.4:c.1416G>A NM_032638.4:c.1416G>A(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.1416G>A NP_116027.2:p.Pro472%3D GATA2 NBN 8 90982669 T/A 0 NM_002485.4 synonymous_variant NM_002485.4:c.819A>T NM_002485.4:c.819A>T(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.819A>T NP_002476.2:p.Thr273%3D NBN PALB2 16 23619235 C/C 1.76 NM_024675.3 synonymous_variant NM_024675.3:c.3300T>G NM_024675.3:c.3300T>G(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.3300T>G NP_078951.2:p.Thr1100%3D PALB2 NSD1 5 176719104 A/G 0 NM_022455.4 synonymous_variant NM_022455.4:c.6408A>G NM_022455.4:c.6408A>G(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.6408A>G NP_071900.2:p.Pro2136%3D NSD1 CEP57 11 95564294 C/T 0 NM_014679.4 synonymous_variant NM_014679.4:c.1377C>T NM_014679.4:c.1377C>T(p.=) NM_014679.4 synonymous_variant NM_014679.4:c.1377C>T NP_055494.2:p.Thr459%3D CEP57 CYLD 16 50827518 T/T 7.91 NM_015247.2 synonymous_variant NM_015247.2:c.2412C>T NM_015247.2:c.2412C>T(p.=) NM_001042412.1 synonymous_variant NM_001042412.1:c.2403C>T NP_001035877.1:p.Asp801%3D CYLD CYLD 16 50826513 A/G 0 NM_015247.2 synonymous_variant NM_015247.2:c.2247A>G NM_015247.2:c.2247A>G(p.=) NM_001042412.1 synonymous_variant NM_001042412.1:c.2238A>G NP_001035877.1:p.Pro746%3D CYLD ALK 2 29449927 G/A 0 NM_004304.4 synonymous_variant NM_004304.4:c.2928C>T NM_004304.4:c.2928C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2928C>T NP_004295.2:p.His976%3D ALK DIS3L2 2 233199421 C/T 0.1 NM_152383.4 synonymous_variant NM_152383.4:c.2370C>T NM_152383.4:c.2370C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2370C>T NP_689596.4:p.Gly790%3D DIS3L2 RET 10 43604573 G/A 0 NM_020975.4 synonymous_variant NM_020975.4:c.1158G>A NM_020975.4:c.1158G>A(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1158G>A NP_066124.1:p.Ala386%3D RET DDB2 11 47237918 C/A 0 NM_000107.2 synonymous_variant NM_000107.2:c.159C>A NM_000107.2:c.159C>A(p.=) NM_000107.2 synonymous_variant NM_000107.2:c.159C>A NP_000098.1:p.Leu53%3D DDB2 CHEK2 22 29083909 T/C 0 NM_001005735.1 synonymous_variant NM_001005735.1:c.1737A>G NM_001005735.1:c.1737A>G(p.=) NM_007194.3 synonymous_variant NM_007194.3:c.1608A>G NP_009125.1:p.Pro536%3D CHEK2 BLM 15 91310214 A/G 0.18 NM_000057.2 synonymous_variant NM_000057.2:c.2268A>G NM_000057.2:c.2268A>G(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.2268A>G NP_000048.1:p.Lys756%3D BLM EXT2 11 44148425 T/C 1.5 NM_000401.3 synonymous_variant NM_000401.3:c.1098T>C NM_000401.3:c.1098T>C(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.999T>C NP_997005.1:p.Asp333%3D EXT2 KIT 4 55593481 G/G 2.14 NM_000222.2 synonymous_variant NM_000222.2:c.1638A>G NM_000222.2:c.1638A>G(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.1638A>G NP_000213.1:p.Lys546%3D KIT FANCD2 3 10085530 C/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.1116C>T NM_033084.3:c.1116C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1116C>T NP_149075.2:p.Ala372%3D FANCD2 STK11 19 1221293 C/T 2.36 NM_000455.4 synonymous_variant NM_000455.4:c.816C>T NM_000455.4:c.816C>T(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.816C>T NP_000446.1:p.Tyr272%3D STK11 NSD1 5 176722277 C/T 0.02 NM_022455.4 synonymous_variant NM_022455.4:c.7908C>T NM_022455.4:c.7908C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.7908C>T NP_071900.2:p.Leu2636%3D NSD1 CEP57 11 95550956 C/G 0.02 NM_014679.4 synonymous_variant NM_014679.4:c.510C>G NM_014679.4:c.510C>G(p.=) NM_014679.4 synonymous_variant NM_014679.4:c.510C>G NP_055494.2:p.Ser170%3D CEP57 SLX4 16 3647593 G/A 0.08 NM_032444.2 synonymous_variant NM_032444.2:c.1470C>T NM_032444.2:c.1470C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1470C>T NP_115820.2:p.Leu490%3D SLX4 RET 10 43613834 G/A 0 NM_020975.4 synonymous_variant NM_020975.4:c.2298G>A NM_020975.4:c.2298G>A(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2298G>A NP_066124.1:p.Pro766%3D RET ERCC3 2 128036826 A/G 0 NM_000122.1 synonymous_variant NM_000122.1:c.1653T>C NM_000122.1:c.1653T>C(p.=) NM_000122.1 synonymous_variant NM_000122.1:c.1653T>C NP_000113.1:p.His551%3D ERCC3 ALK 2 30143121 G/T 0 NM_004304.4 synonymous_variant NM_004304.4:c.405C>A NM_004304.4:c.405C>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.405C>A NP_004295.2:p.Leu135%3D ALK CEP57 11 95555088 A/A 1.52 NM_014679.4 synonymous_variant NM_014679.4:c.753G>A NM_014679.4:c.753G>A(p.=) NM_014679.4 synonymous_variant NM_014679.4:c.753G>A NP_055494.2:p.Pro251%3D CEP57 FANCE 6 35420521 C/T 0 NM_021922.2 synonymous_variant NM_021922.2:c.199C>T NM_021922.2:c.199C>T(p.=) NM_021922.2 synonymous_variant NM_021922.2:c.199C>T NP_068741.1:p.Leu67%3D FANCE MET 7 116339981 C/T 0 NM_001127500.1 synonymous_variant NM_001127500.1:c.843C>T NM_001127500.1:c.843C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.843C>T NP_000236.2:p.Phe281%3D MET PTCH1 9 98220313 G/A 0.02 NM_000264.3 synonymous_variant NM_000264.3:c.3150C>T NM_000264.3:c.3150C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.3150C>T NP_000255.2:p.Pro1050%3D PTCH1 FANCM 14 45646004 A/G 0 NM_020937.2 synonymous_variant NM_020937.2:c.4047A>G NM_020937.2:c.4047A>G(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.4047A>G NP_065988.1:p.Ser1349%3D FANCM MSH2 2 47656935 A/G 0.02 NM_000251.2 synonymous_variant NM_000251.2:c.1131A>G NM_000251.2:c.1131A>G(p.=) NM_000251.2 synonymous_variant NM_000251.2:c.1131A>G NP_000242.1:p.Gln377%3D MSH2 NSD1 5 176639105 C/C 10.56 NM_022455.4 synonymous_variant NM_022455.4:c.3705T>C NM_022455.4:c.3705T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.3705T>C NP_071900.2:p.Asn1235%3D NSD1 TP53 17 7578420 C/T 0 NM_000546.5 synonymous_variant NM_000546.5:c.510G>A NM_000546.5:c.510G>A(p.=) NM_000546.5 synonymous_variant NM_000546.5:c.510G>A NP_000537.3:p.Thr170%3D TP53 STK11 19 1220486 C/T 0 NM_000455.4 synonymous_variant NM_000455.4:c.579C>T NM_000455.4:c.579C>T(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.579C>T NP_000446.1:p.Ser193%3D STK11 BMPR1A 10 88683209 T/G 0.02 NM_004329.2 synonymous_variant NM_004329.2:c.1419T>G NM_004329.2:c.1419T>G(p.=) NM_004329.2 synonymous_variant NM_004329.2:c.1419T>G NP_004320.2:p.Val473%3D BMPR1A APC 5 112179529 C/T 0 NM_000038.5 synonymous_variant NM_000038.5:c.8238C>T NM_000038.5:c.8238C>T(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.8238C>T NP_000029.2:p.Val2746%3D APC BLM 15 91295105 T/C 0 NM_000057.2 synonymous_variant NM_000057.2:c.888T>C NM_000057.2:c.888T>C(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.888T>C NP_000048.1:p.Tyr296%3D BLM SLX4 16 3639367 G/A 0 NM_032444.2 synonymous_variant NM_032444.2:c.4272C>T NM_032444.2:c.4272C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.4272C>T NP_115820.2:p.Asp1424%3D SLX4 NSD1 5 176678793 G/C 0 NM_022455.4 synonymous_variant NM_022455.4:c.4704G>C NM_022455.4:c.4704G>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.4704G>C NP_071900.2:p.Leu1568%3D NSD1 RHBDF2 17 74475173 C/T 0 NM_024599.5 synonymous_variant NM_024599.5:c.546G>A NM_024599.5:c.546G>A(p.=) NM_001005498.3 synonymous_variant NM_001005498.3:c.459G>A NP_001005498.2:p.Lys153%3D RHBDF2 WT1 11 32456784 C/G 0 NM_024426.4 synonymous_variant NM_024426.4:c.108G>C NM_024426.4:c.108G>C(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.108G>C NP_077744.3:p.Pro36%3D WT1 TSC2 16 2114398 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.1569C>T NM_000548.3:c.1569C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1569C>T NP_000539.2:p.His523%3D TSC2 ERCC4 16 14029073 G/A 0.02 NM_005236.2 synonymous_variant NM_005236.2:c.1284G>A NM_005236.2:c.1284G>A(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.1284G>A NP_005227.1:p.Ala428%3D ERCC4 PALB2 16 23640967 G/C 0 NM_024675.3 synonymous_variant NM_024675.3:c.2508C>G NM_024675.3:c.2508C>G(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.2508C>G NP_078951.2:p.Val836%3D PALB2 TSC1 9 135772681 G/A 0.12 NM_000368.4 synonymous_variant NM_000368.4:c.2865C>T NM_000368.4:c.2865C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.2865C>T NP_000359.1:p.Thr955%3D TSC1 NSD1 5 176721944 C/T 0.02 NM_022455.4 synonymous_variant NM_022455.4:c.7575C>T NM_022455.4:c.7575C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.7575C>T NP_071900.2:p.Asp2525%3D NSD1 NF1 17 29556390 T/C 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.2757T>C NM_001042492.2:c.2757T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2757T>C NP_000258.1:p.Asp919%3D NF1 RECQL4 8 145742816 G/C 0.62 NM_004260.3 synonymous_variant NM_004260.3:c.195C>G NM_004260.3:c.195C>G(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.195C>G NP_004251.3:p.Leu65%3D RECQL4 NSD1 5 176707724 C/G 0.02 NM_022455.4 synonymous_variant NM_022455.4:c.5781C>G NM_022455.4:c.5781C>G(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.5781C>G NP_071900.2:p.Ala1927%3D NSD1 ALK 2 29451793 A/C 0 NM_004304.4 synonymous_variant NM_004304.4:c.2772T>G NM_004304.4:c.2772T>G(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2772T>G NP_004295.2:p.Gly924%3D ALK ATM 11 108163487 T/T 1.54 NM_000051.3 synonymous_variant NM_000051.3:c.4578C>T NM_000051.3:c.4578C>T(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.4578C>T NP_000042.3:p.Pro1526%3D ATM ALK 2 29449798 G/T 0.3 NM_004304.4 synonymous_variant NM_004304.4:c.3057C>A NM_004304.4:c.3057C>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3057C>A NP_004295.2:p.Val1019%3D ALK PALB2 16 23646295 T/C 0.22 NM_024675.3 synonymous_variant NM_024675.3:c.1572A>G NM_024675.3:c.1572A>G(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.1572A>G NP_078951.2:p.Ser524%3D PALB2 BIVM-ERCC5,ERCC5 13 103510738 C/A 0 NM_001204425.1 synonymous_variant NM_001204425.1:c.2004C>A NM_001204425.1:c.2004C>A(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.642C>A NP_000114.2:p.Arg214%3D ERCC5 BUB1B,PAK6 15 40510662 T/T 0.9 NM_001211.5 synonymous_variant NM_001211.5:c.2856C>T NM_001211.5:c.2856C>T(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.2856C>T NP_001202.4:p.Asp952%3D BUB1B FANCA 16 89874770 A/G 0 NM_000135.2 synonymous_variant NM_000135.2:c.528T>C NM_000135.2:c.528T>C(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.528T>C NP_000126.2:p.Ser176%3D FANCA TSC1 9 135772977 G/A 0.16 NM_000368.4 synonymous_variant NM_000368.4:c.2646C>T NM_000368.4:c.2646C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.2646C>T NP_000359.1:p.Ala882%3D TSC1 MET 7 116422053 A/G 0 NM_001127500.1 synonymous_variant NM_001127500.1:c.3588A>G NM_001127500.1:c.3588A>G(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.3534A>G NP_000236.2:p.Val1178%3D MET RET 10 43609938 C/T 0 NM_020975.4 synonymous_variant NM_020975.4:c.1890C>T NM_020975.4:c.1890C>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1890C>T NP_066124.1:p.Cys630%3D RET BRCA1 17 41251811 C/T 0 NM_007300.3 synonymous_variant NM_007300.3:c.528G>A NM_007300.3:c.528G>A(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.528G>A NP_009225.1:p.Thr176%3D BRCA1 SMARCB1 22 24143206 A/G 0.46 NM_003073.3 synonymous_variant NM_003073.3:c.438A>G NM_003073.3:c.438A>G(p.=) NM_003073.3 synonymous_variant NM_003073.3:c.438A>G NP_003064.2:p.Pro146%3D SMARCB1 EXT2 11 44228488 C/T 0.26 NM_000401.3 synonymous_variant NM_000401.3:c.1740C>T NM_000401.3:c.1740C>T(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.1641C>T NP_997005.1:p.Asp547%3D EXT2 DICER1 14 95560444 G/A 0.1 NM_177438.2 synonymous_variant NM_177438.2:c.5145C>T NM_177438.2:c.5145C>T(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.5145C>T NP_803187.1:p.Leu1715%3D DICER1 NF1 17 29557281 T/C 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.2994T>C NM_001042492.2:c.2994T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2994T>C NP_000258.1:p.Tyr998%3D NF1 BMPR1A 10 88679200 T/T 1.26 NM_004329.2 synonymous_variant NM_004329.2:c.1140C>T NM_004329.2:c.1140C>T(p.=) NM_004329.2 synonymous_variant NM_004329.2:c.1140C>T NP_004320.2:p.Asp380%3D BMPR1A BUB1B,PAK6 15 40509802 C/T 0.04 NM_001211.5 synonymous_variant NM_001211.5:c.2784C>T NM_001211.5:c.2784C>T(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.2784C>T NP_001202.4:p.Ser928%3D BUB1B PTCH1 9 98215882 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.3327C>T NM_000264.3:c.3327C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.3327C>T NP_000255.2:p.Gly1109%3D PTCH1 STK11 19 1220702 G/A 0 NM_000455.4 synonymous_variant NM_000455.4:c.720G>A NM_000455.4:c.720G>A(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.720G>A NP_000446.1:p.Ser240%3D STK11 EZH2 7 148526908 A/G 0.16 NM_004456.4 synonymous_variant NM_004456.4:c.396T>C NM_004456.4:c.396T>C(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.396T>C NP_004447.2:p.Pro132%3D EZH2 GATA2 3 128200072 T/T 0.94 NM_032638.4 synonymous_variant NM_032638.4:c.1233G>A NM_032638.4:c.1233G>A(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.1233G>A NP_116027.2:p.Ala411%3D GATA2 ALK 2 29541266 A/G 0 NM_004304.4 synonymous_variant NM_004304.4:c.1551T>C NM_004304.4:c.1551T>C(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.1551T>C NP_004295.2:p.His517%3D ALK HNF1A 12 121426645 G/A 0 NM_000545.5 synonymous_variant NM_000545.5:c.336G>A NM_000545.5:c.336G>A(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.336G>A NP_000536.5:p.Pro112%3D HNF1A FANCM 14 45665719 T/C 0 NM_020937.2 synonymous_variant NM_020937.2:c.5685T>C NM_020937.2:c.5685T>C(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.5685T>C NP_065988.1:p.Cys1895%3D FANCM RET 10 43600608 C/T 0 NM_020975.4 synonymous_variant NM_020975.4:c.834C>T NM_020975.4:c.834C>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.834C>T NP_066124.1:p.Thr278%3D RET BRCA2 13 32910430 C/T 0.04 NM_000059.3 synonymous_variant NM_000059.3:c.1938C>T NM_000059.3:c.1938C>T(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.1938C>T NP_000050.2:p.Ser646%3D BRCA2 RUNX1 21 36259347 G/A 0.14 NM_001754.4 synonymous_variant NM_001754.4:c.144C>T NM_001754.4:c.144C>T(p.=) NM_001754.4 synonymous_variant NM_001754.4:c.144C>T NP_001745.2:p.Ser48%3D RUNX1 MSH6 2 48025764 T/T 2.85 NM_000179.2 synonymous_variant NM_000179.2:c.642C>T NM_000179.2:c.642C>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.642C>T NP_000170.1:p.Tyr214%3D MSH6 EZH2 7 148515030 C/T 0 NM_004456.4 synonymous_variant NM_004456.4:c.1179G>A NM_004456.4:c.1179G>A(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.1179G>A NP_004447.2:p.Thr393%3D EZH2 PTCH1 9 98209236 G/A 0.06 NM_000264.3 synonymous_variant NM_000264.3:c.4302C>T NM_000264.3:c.4302C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.4302C>T NP_000255.2:p.Asp1434%3D PTCH1 N/A 17 29701152 T/C 0.06 NM_001042492.2 synonymous_variant NM_001042492.2:c.8499T>C NM_001042492.2:c.8499T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.8436T>C NP_000258.1:p.Asn2812%3D NF1 BIVM-ERCC5,ERCC5 13 103514939 C/T 3.59 NM_001204425.1 synonymous_variant NM_001204425.1:c.2802C>T NM_001204425.1:c.2802C>T(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.1440C>T NP_000114.2:p.His480%3D ERCC5 DIS3L2 2 233001256 C/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.777C>T NM_152383.4:c.777C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.777C>T NP_689596.4:p.Ser259%3D DIS3L2 DIS3L2 2 233200497 G/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.2409G>T NM_152383.4:c.2409G>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2409G>T NP_689596.4:p.Arg803%3D DIS3L2 SLX4 16 3646269 C/T 0.08 NM_032444.2 synonymous_variant NM_032444.2:c.1809G>A NM_032444.2:c.1809G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1809G>A NP_115820.2:p.Ser603%3D SLX4 SMARCB1 22 24176340 T/C 0.08 NM_003073.3 synonymous_variant NM_003073.3:c.1131T>C NM_003073.3:c.1131T>C(p.=) NM_003073.3 synonymous_variant NM_003073.3:c.1131T>C NP_003064.2:p.Arg377%3D SMARCB1 PTCH1 9 98231279 G/A 0.02 NM_000264.3 synonymous_variant NM_000264.3:c.2004C>T NM_000264.3:c.2004C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.2004C>T NP_000255.2:p.Tyr668%3D PTCH1 DIS3L2 2 233164782 C/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.1692C>T NM_152383.4:c.1692C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1692C>T NP_689596.4:p.Thr564%3D DIS3L2 FANCA 16 89865630 G/A 0 NM_000135.2 synonymous_variant NM_000135.2:c.837C>T NM_000135.2:c.837C>T(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.837C>T NP_000126.2:p.Asp279%3D FANCA NSD1 5 176637182 T/C 0 NM_022455.4 synonymous_variant NM_022455.4:c.1782T>C NM_022455.4:c.1782T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.1782T>C NP_071900.2:p.Pro594%3D NSD1 BRCA2 13 32893263 T/A 0 NM_000059.3 synonymous_variant NM_000059.3:c.117T>A NM_000059.3:c.117T>A(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.117T>A NP_000050.2:p.Ala39%3D BRCA2 EXT2 11 44146513 C/T 0.5 NM_000401.3 synonymous_variant NM_000401.3:c.1017C>T NM_000401.3:c.1017C>T(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.918C>T NP_997005.1:p.Phe306%3D EXT2 EXT2 11 44129526 C/T 1.52 NM_000401.3 synonymous_variant NM_000401.3:c.363C>T NM_000401.3:c.363C>T(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.264C>T NP_997005.1:p.His88%3D EXT2 EZH2 7 148508759 A/G 0 NM_004456.4 synonymous_variant NM_004456.4:c.1905T>C NM_004456.4:c.1905T>C(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.1905T>C NP_004447.2:p.Asp635%3D EZH2 WT1 11 32421533 T/C 4.49 NM_024426.4 synonymous_variant NM_024426.4:c.1059A>G NM_024426.4:c.1059A>G(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.1059A>G NP_077744.3:p.Gln353%3D WT1 FANCB X 14861730 A/G 0 NM_152633.2 synonymous_variant NM_152633.2:c.2539T>C NM_152633.2:c.2539T>C(p.=) NM_152633.2 synonymous_variant NM_152633.2:c.2539T>C NP_689846.1:p.Leu847%3D FANCB EXT2 11 44146399 C/T 0 NM_000401.3 synonymous_variant NM_000401.3:c.903C>T NM_000401.3:c.903C>T(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.804C>T NP_997005.1:p.Asp268%3D EXT2 RECQL4 8 145742479 C/T 0.2 NM_004260.3 synonymous_variant NM_004260.3:c.309G>A NM_004260.3:c.309G>A(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.309G>A NP_004251.3:p.Pro103%3D RECQL4 EGFR 7 55241682 T/G 0 NM_005228.3 synonymous_variant NM_005228.3:c.2130T>G NM_005228.3:c.2130T>G(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2130T>G NP_005219.2:p.Thr710%3D EGFR RET 10 43615594 G/A 0.02 NM_020975.4 synonymous_variant NM_020975.4:c.2673G>A NM_020975.4:c.2673G>A(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.2673G>A NP_066124.1:p.Ser891%3D RET ERCC2 19 45871939 C/T 0 NM_000400.3 synonymous_variant NM_000400.3:c.309G>A NM_000400.3:c.309G>A(p.=) NM_000400.3 synonymous_variant NM_000400.3:c.309G>A NP_000391.1:p.Pro103%3D ERCC2 APC 5 112178995 A/G 3.51 NM_000038.5 synonymous_variant NM_000038.5:c.7704A>G NM_000038.5:c.7704A>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.7704A>G NP_000029.2:p.Gly2568%3D APC RAD51C 17 56809866 A/C 0 NM_058216.2 synonymous_variant NM_058216.2:c.987A>C NM_058216.2:c.987A>C(p.=) NM_058216.2 synonymous_variant NM_058216.2:c.987A>C NP_478123.1:p.Ser329%3D RAD51C APC 5 112102070 T/C 0 NM_000038.5 synonymous_variant NM_000038.5:c.183T>C NM_000038.5:c.183T>C(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.183T>C NP_000029.2:p.Ala61%3D APC TSC1 9 135781239 A/G 1.26 NM_000368.4 synonymous_variant NM_000368.4:c.1726T>C NM_000368.4:c.1726T>C(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.1726T>C NP_000359.1:p.Leu576%3D TSC1 BIVM-ERCC5,ERCC5 13 103515035 C/T 0.06 NM_001204425.1 synonymous_variant NM_001204425.1:c.2898C>T NM_001204425.1:c.2898C>T(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.1536C>T NP_000114.2:p.Asp512%3D ERCC5 FANCM 14 45658292 G/A 0.02 NM_020937.2 synonymous_variant NM_020937.2:c.5067G>A NM_020937.2:c.5067G>A(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.5067G>A NP_065988.1:p.Ala1689%3D FANCM BRCA2 13 32972760 G/A 0.08 NM_000059.3 synonymous_variant NM_000059.3:c.10110G>A NM_000059.3:c.10110G>A(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.10110G>A NP_000050.2:p.Arg3370%3D BRCA2 DICER1 14 95556997 C/T 0 NM_177438.2 synonymous_variant NM_177438.2:c.5607G>A NM_177438.2:c.5607G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.5607G>A NP_803187.1:p.Pro1869%3D DICER1 MLH1 3 37059082 G/A 0 NM_000249.3 synonymous_variant NM_000249.3:c.876G>A NM_000249.3:c.876G>A(p.=) NM_000249.3 synonymous_variant NM_000249.3:c.876G>A NP_000240.1:p.Leu292%3D MLH1 SBDS 7 66459274 A/G 0.06 NM_016038.2 synonymous_variant NM_016038.2:c.183T>C NM_016038.2:c.183T>C(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.183T>C NP_057122.2:p.Ser61%3D SBDS DIS3L2 2 233075081 T/T 1.54 NM_152383.4 synonymous_variant NM_152383.4:c.1170C>T NM_152383.4:c.1170C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1170C>T NP_689596.4:p.Leu390%3D DIS3L2 RET 10 43606777 G/A 0 NM_020975.4 synonymous_variant NM_020975.4:c.1386G>A NM_020975.4:c.1386G>A(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1386G>A NP_066124.1:p.Ser462%3D RET CYLD 16 50813919 A/G 0 NM_015247.2 synonymous_variant NM_015247.2:c.1482A>G NM_015247.2:c.1482A>G(p.=) NM_001042412.1 synonymous_variant NM_001042412.1:c.1473A>G NP_001035877.1:p.Pro491%3D CYLD EGFR 7 55259450 C/T 0.54 NM_005228.3 synonymous_variant NM_005228.3:c.2508C>T NM_005228.3:c.2508C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2508C>T NP_005219.2:p.Arg836%3D EGFR TSC2 16 2136325 C/T 0.02 NM_000548.3 synonymous_variant NM_000548.3:c.4794C>T NM_000548.3:c.4794C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4794C>T NP_000539.2:p.Asp1598%3D TSC2 APC 5 112090602 A/G 0 NM_000038.5 synonymous_variant NM_000038.5:c.15A>G NM_000038.5:c.15A>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.15A>G NP_000029.2:p.Ser5%3D APC TSC2 16 2104425 C/T 0.08 NM_000548.3 synonymous_variant NM_000548.3:c.465C>T NM_000548.3:c.465C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.465C>T NP_000539.2:p.Tyr155%3D TSC2 TSC2 16 2134330 G/A 0.02 NM_000548.3 synonymous_variant NM_000548.3:c.4107G>A NM_000548.3:c.4107G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4107G>A NP_000539.2:p.Arg1369%3D TSC2 GATA2 3 128204877 C/G 1.86 NM_032638.4 synonymous_variant NM_032638.4:c.564G>C NM_032638.4:c.564G>C(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.564G>C NP_116027.2:p.Thr188%3D GATA2 MSH2 2 47703654 A/G 0.02 NM_000251.2 synonymous_variant NM_000251.2:c.2154A>G NM_000251.2:c.2154A>G(p.=) NM_000251.2 synonymous_variant NM_000251.2:c.2154A>G NP_000242.1:p.Gln718%3D MSH2 EXT2 11 44228492 C/T 0 NM_000401.3 synonymous_variant NM_000401.3:c.1744C>T NM_000401.3:c.1744C>T(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.1645C>T NP_997005.1:p.Leu549%3D EXT2 FANCA 16 89874761 A/C 0 NM_000135.2 synonymous_variant NM_000135.2:c.537T>G NM_000135.2:c.537T>G(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.537T>G NP_000126.2:p.Leu179%3D FANCA TSC2 16 2114422 C/T 0.12 NM_000548.3 synonymous_variant NM_000548.3:c.1593C>T NM_000548.3:c.1593C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1593C>T NP_000539.2:p.Ile531%3D TSC2 NF1 17 29679401 A/G 0.1 NM_001042492.2 synonymous_variant NM_001042492.2:c.7584A>G NM_001042492.2:c.7584A>G(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.7521A>G NP_000258.1:p.Gln2507%3D NF1 PRF1 10 72360449 G/A 0 NM_005041.4 synonymous_variant NM_005041.4:c.210C>T NM_005041.4:c.210C>T(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.210C>T NP_005032.2:p.Asp70%3D PRF1 TP53 17 7579895 T/G 0 NM_000546.5 synonymous_variant NM_000546.5:c.18A>C NM_000546.5:c.18A>C(p.=) NM_000546.5 synonymous_variant NM_000546.5:c.18A>C NP_000537.3:p.Ser6%3D TP53 EXT2 11 44148429 T/C 0 NM_000401.3 synonymous_variant NM_000401.3:c.1102T>C NM_000401.3:c.1102T>C(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.1003T>C NP_997005.1:p.Leu335%3D EXT2 RET 10 43601973 G/A 0 NM_020975.4 synonymous_variant NM_020975.4:c.1017G>A NM_020975.4:c.1017G>A(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1017G>A NP_066124.1:p.Ser339%3D RET TSC2 16 2120561 G/A 0 NM_000548.3 synonymous_variant NM_000548.3:c.1821G>A NM_000548.3:c.1821G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1821G>A NP_000539.2:p.Ala607%3D TSC2 FANCA 16 89836977 C/T 0 NM_000135.2 synonymous_variant NM_000135.2:c.2217G>A NM_000135.2:c.2217G>A(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.2217G>A NP_000126.2:p.Pro739%3D FANCA RHBDF2 17 74477478 C/T 0 NM_024599.5 synonymous_variant NM_024599.5:c.129G>A NM_024599.5:c.129G>A(p.=) NM_001005498.3 synonymous_variant NM_001005498.3:c.129G>A NP_001005498.2:p.Glu43%3D RHBDF2 DICER1 14 95562748 G/A 0 NM_177438.2 synonymous_variant NM_177438.2:c.4509C>T NM_177438.2:c.4509C>T(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.4509C>T NP_803187.1:p.Tyr1503%3D DICER1 ALK 2 29446288 G/A 0 NM_004304.4 synonymous_variant NM_004304.4:c.3279C>T NM_004304.4:c.3279C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3279C>T NP_004295.2:p.Asn1093%3D ALK CEBPA 19 33792760 C/G 0.52 NM_004364.3 synonymous_variant NM_004364.3:c.561G>C NM_004364.3:c.561G>C(p.=) NM_004364.3 synonymous_variant NM_004364.3:c.561G>C NP_004355.2:p.Pro187%3D CEBPA NBN 8 90993016 A/G 0 NM_002485.4 synonymous_variant NM_002485.4:c.426T>C NM_002485.4:c.426T>C(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.426T>C NP_002476.2:p.Asn142%3D NBN SDHB 1 17345421 G/A 0 NM_003000.2 synonymous_variant NM_003000.2:c.798C>T NM_003000.2:c.798C>T(p.=) NM_003000.2 synonymous_variant NM_003000.2:c.798C>T NP_002991.2:p.Ile266%3D SDHB FANCF 11 22646532 T/T 0.68 NM_022725.3 synonymous_variant NM_022725.3:c.825G>A NM_022725.3:c.825G>A(p.=) NM_022725.3 synonymous_variant NM_022725.3:c.825G>A NP_073562.1:p.Leu275%3D FANCF ERCC4 16 14042177 C/T 0.02 NM_005236.2 synonymous_variant NM_005236.2:c.2724C>T NM_005236.2:c.2724C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.2724C>T NP_005227.1:p.Val908%3D ERCC4 FANCI 15 89824498 T/G 0 NM_001113378.1 synonymous_variant NM_001113378.1:c.1479T>G NM_001113378.1:c.1479T>G(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.1479T>G NP_001106849.1:p.Leu493%3D FANCI SLX4 16 3639229 C/T 0 NM_032444.2 synonymous_variant NM_032444.2:c.4410G>A NM_032444.2:c.4410G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.4410G>A NP_115820.2:p.Pro1470%3D SLX4 GATA2 3 128205201 G/A 0.02 NM_032638.4 synonymous_variant NM_032638.4:c.240C>T NM_032638.4:c.240C>T(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.240C>T NP_116027.2:p.Thr80%3D GATA2 HNF1A 12 121416856 G/A 0 NM_000545.5 synonymous_variant NM_000545.5:c.285G>A NM_000545.5:c.285G>A(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.285G>A NP_000536.5:p.Glu95%3D HNF1A SDHB 1 17380491 G/A 0.12 NM_003000.2 synonymous_variant NM_003000.2:c.24C>T NM_003000.2:c.24C>T(p.=) NM_003000.2 synonymous_variant NM_003000.2:c.24C>T NP_002991.2:p.Ser8%3D SDHB RB1 13 49027140 A/G 0.02 NM_000321.2 synonymous_variant NM_000321.2:c.1707A>G NM_000321.2:c.1707A>G(p.=) NM_000321.2 synonymous_variant NM_000321.2:c.1707A>G NP_000312.2:p.Leu569%3D RB1 FANCM 14 45645482 G/A 0 NM_020937.2 synonymous_variant NM_020937.2:c.3525G>A NM_020937.2:c.3525G>A(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.3525G>A NP_065988.1:p.Gln1175%3D FANCM SLX4 16 3639901 G/A 0 NM_032444.2 synonymous_variant NM_032444.2:c.3738C>T NM_032444.2:c.3738C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3738C>T NP_115820.2:p.Ser1246%3D SLX4 SMAD4 18 48575160 G/A 0.1 NM_005359.5 synonymous_variant NM_005359.5:c.354G>A NM_005359.5:c.354G>A(p.=) NM_005359.5 synonymous_variant NM_005359.5:c.354G>A NP_005350.1:p.Ala118%3D SMAD4 BLM 15 91306338 G/C 0 NM_000057.2 synonymous_variant NM_000057.2:c.2025G>C NM_000057.2:c.2025G>C(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.2025G>C NP_000048.1:p.Ala675%3D BLM FANCD2 3 10084748 T/A 0 NM_033084.3 synonymous_variant NM_033084.3:c.903T>A NM_033084.3:c.903T>A(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.903T>A NP_149075.2:p.Leu301%3D FANCD2 FANCD2 3 10116249 A/G 0 NM_033084.3 synonymous_variant NM_033084.3:c.2751A>G NM_033084.3:c.2751A>G(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2751A>G NP_149075.2:p.Leu917%3D FANCD2 BLM 15 91308557 T/A 0 NM_000057.2 synonymous_variant NM_000057.2:c.2106T>A NM_000057.2:c.2106T>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.2106T>A NP_000048.1:p.Pro702%3D BLM NF1 17 29490255 C/T 0.18 NM_001042492.2 synonymous_variant NM_001042492.2:c.340C>T NM_001042492.2:c.340C>T(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.340C>T NP_000258.1:p.Leu114%3D NF1 APC 5 112128202 A/G 0.12 NM_000038.5 synonymous_variant NM_000038.5:c.705A>G NM_000038.5:c.705A>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.705A>G NP_000029.2:p.Leu235%3D APC CDH1 16 68853297 G/C 0.18 NM_004360.3 synonymous_variant NM_004360.3:c.1680G>C NM_004360.3:c.1680G>C(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.1680G>C NP_004351.1:p.Thr560%3D CDH1 MSH6 2 48023046 G/A 0 NM_000179.2 synonymous_variant NM_000179.2:c.471G>A NM_000179.2:c.471G>A(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.471G>A NP_000170.1:p.Lys157%3D MSH6 PTEN 10 89692876 A/C 0 NM_000314.4 synonymous_variant NM_000314.4:c.360A>C NM_000314.4:c.360A>C(p.=) NM_000314.4 synonymous_variant NM_000314.4:c.360A>C NP_000305.3:p.Ala120%3D PTEN RB1 13 49027203 T/C 0.04 NM_000321.2 synonymous_variant NM_000321.2:c.1770T>C NM_000321.2:c.1770T>C(p.=) NM_000321.2 synonymous_variant NM_000321.2:c.1770T>C NP_000312.2:p.Cys590%3D RB1 PALB2 16 23641096 G/A 0 NM_024675.3 synonymous_variant NM_024675.3:c.2379C>T NM_024675.3:c.2379C>T(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.2379C>T NP_078951.2:p.Gly793%3D PALB2 PALB2 16 23647516 A/G 0 NM_024675.3 synonymous_variant NM_024675.3:c.351T>C NM_024675.3:c.351T>C(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.351T>C NP_078951.2:p.Pro117%3D PALB2 ALK 2 30143133 G/A 0 NM_004304.4 synonymous_variant NM_004304.4:c.393C>T NM_004304.4:c.393C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.393C>T NP_004295.2:p.Ser131%3D ALK AIP 11 67257613 C/T 0 NM_003977.2 synonymous_variant NM_003977.2:c.573C>T NM_003977.2:c.573C>T(p.=) NM_003977.2 synonymous_variant NM_003977.2:c.573C>T NP_003968.2:p.Arg191%3D AIP FANCA 16 89857880 C/A 3.25 NM_000135.2 synonymous_variant NM_000135.2:c.1290G>T NM_000135.2:c.1290G>T(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.1290G>T NP_000126.2:p.Ala430%3D FANCA FANCF 11 22646670 T/A 0 NM_022725.3 synonymous_variant NM_022725.3:c.687A>T NM_022725.3:c.687A>T(p.=) NM_022725.3 synonymous_variant NM_022725.3:c.687A>T NP_073562.1:p.Ser229%3D FANCF TSC1 9 135771793 G/A 1.58 NM_000368.4 synonymous_variant NM_000368.4:c.3324C>T NM_000368.4:c.3324C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.3324C>T NP_000359.1:p.Gly1108%3D TSC1 EGFR,EGFR-AS1 7 55248991 C/G 0.06 NM_005228.3 synonymous_variant NM_005228.3:c.2289C>G NM_005228.3:c.2289C>G(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2289C>G NP_005219.2:p.Ala763%3D EGFR TSC2 16 2126093 G/C 0 NM_000548.3 synonymous_variant NM_000548.3:c.2664G>C NM_000548.3:c.2664G>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.2664G>C NP_000539.2:p.Leu888%3D TSC2 CDC73 1 193104546 C/T 0.02 NM_024529.4 synonymous_variant NM_024529.4:c.333C>T NM_024529.4:c.333C>T(p.=) NM_024529.4 synonymous_variant NM_024529.4:c.333C>T NP_078805.3:p.Ser111%3D CDC73 CDKN1C 11 2906012 C/T 0.46 NM_000076.2 synonymous_variant NM_000076.2:c.708G>A NM_000076.2:c.708G>A(p.=) NM_000076.2 synonymous_variant NM_000076.2:c.708G>A NP_000067.1:p.Glu236%3D CDKN1C FANCF 11 22646658 C/T 0 NM_022725.3 synonymous_variant NM_022725.3:c.699G>A NM_022725.3:c.699G>A(p.=) NM_022725.3 synonymous_variant NM_022725.3:c.699G>A NP_073562.1:p.Gly233%3D FANCF GPC3 X 132826435 G/A 0.05 NM_001164617.1 synonymous_variant NM_001164617.1:c.1323C>T NM_001164617.1:c.1323C>T(p.=) NM_004484.3 synonymous_variant NM_004484.3:c.1254C>T NP_004475.1:p.Asn418%3D GPC3 TSC2 16 2136866 C/T 2.71 NM_000548.3 synonymous_variant NM_000548.3:c.4983C>T NM_000548.3:c.4983C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4983C>T NP_000539.2:p.Thr1661%3D TSC2 ALK 2 29541191 C/G 0.02 NM_004304.4 synonymous_variant NM_004304.4:c.1626G>C NM_004304.4:c.1626G>C(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.1626G>C NP_004295.2:p.Pro542%3D ALK EZH2 7 148511171 T/T 0.56 NM_004456.4 synonymous_variant NM_004456.4:c.1731G>A NM_004456.4:c.1731G>A(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.1731G>A NP_004447.2:p.Pro577%3D EZH2 FANCD2 3 10091153 T/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.1509C>T NM_033084.3:c.1509C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1509C>T NP_149075.2:p.Asn503%3D FANCD2 WRN 8 31007866 G/T 0 NM_000553.4 synonymous_variant NM_000553.4:c.3582G>T NM_000553.4:c.3582G>T(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.3582G>T NP_000544.2:p.Thr1194%3D WRN TSC1 9 135804215 G/A 0 NM_000368.4 synonymous_variant NM_000368.4:c.45C>T NM_000368.4:c.45C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.45C>T NP_000359.1:p.Asp15%3D TSC1 SLX4 16 3658801 G/A 0.02 NM_032444.2 synonymous_variant NM_032444.2:c.165C>T NM_032444.2:c.165C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.165C>T NP_115820.2:p.Cys55%3D SLX4 SBDS 7 66458276 G/A 0 NM_016038.2 synonymous_variant NM_016038.2:c.387C>T NM_016038.2:c.387C>T(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.387C>T NP_057122.2:p.Thr129%3D SBDS ALK 2 29446213 G/T 0 NM_004304.4 synonymous_variant NM_004304.4:c.3354C>A NM_004304.4:c.3354C>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3354C>A NP_004295.2:p.Leu1118%3D ALK BRCA1 17 41245589 T/C 0 NM_007300.3 synonymous_variant NM_007300.3:c.1959A>G NM_007300.3:c.1959A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.1959A>G NP_009225.1:p.Lys653%3D BRCA1 PALB2 16 23641665 G/A 0.34 NM_024675.3 synonymous_variant NM_024675.3:c.1810C>T NM_024675.3:c.1810C>T(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.1810C>T NP_078951.2:p.Leu604%3D PALB2 BRCA2 13 32972745 C/T 0 NM_000059.3 synonymous_variant NM_000059.3:c.10095C>T NM_000059.3:c.10095C>T(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.10095C>T NP_000050.2:p.Val3365%3D BRCA2 PTCH1 9 98231120 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.2163C>T NM_000264.3:c.2163C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.2163C>T NP_000255.2:p.His721%3D PTCH1 FANCI 15 89849413 C/A 0.66 NM_001113378.1 synonymous_variant NM_001113378.1:c.3525C>A NM_001113378.1:c.3525C>A(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.3525C>A NP_001106849.1:p.Ala1175%3D FANCI FANCA 16 89851343 A/G 0 NM_000135.2 synonymous_variant NM_000135.2:c.1389T>C NM_000135.2:c.1389T>C(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.1389T>C NP_000126.2:p.His463%3D FANCA PMS1 2 190719016 T/C 0 NM_000534.4 synonymous_variant NM_000534.4:c.1018T>C NM_000534.4:c.1018T>C(p.=) NM_000534.4 synonymous_variant NM_000534.4:c.1018T>C NP_000525.1:p.Leu340%3D PMS1 NF1 17 29562679 C/G 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.3759C>G NM_001042492.2:c.3759C>G(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.3759C>G NP_000258.1:p.Leu1253%3D NF1 PTCH1 9 98209479 C/T 0 NM_000264.3 synonymous_variant NM_000264.3:c.4059G>A NM_000264.3:c.4059G>A(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.4059G>A NP_000255.2:p.Ala1353%3D PTCH1 DICER1 14 95598970 A/G 0 NM_177438.2 synonymous_variant NM_177438.2:c.189T>C NM_177438.2:c.189T>C(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.189T>C NP_803187.1:p.Cys63%3D DICER1 NF1 17 29559838 G/A 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.3435G>A NM_001042492.2:c.3435G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.3435G>A NP_000258.1:p.Thr1145%3D NF1 TSC2 16 2115609 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.1689C>T NM_000548.3:c.1689C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1689C>T NP_000539.2:p.Ala563%3D TSC2 SDHD 11 111965601 G/A 0 NM_003002.3 synonymous_variant NM_003002.3:c.387G>A NM_003002.3:c.387G>A(p.=) NM_003002.3 synonymous_variant NM_003002.3:c.387G>A NP_002993.1:p.Leu129%3D SDHD KIT 4 55598152 C/T 0.02 NM_000222.2 synonymous_variant NM_000222.2:c.2349C>T NM_000222.2:c.2349C>T(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.2349C>T NP_000213.1:p.Leu783%3D KIT FANCM 14 45658037 T/C 0 NM_020937.2 synonymous_variant NM_020937.2:c.4812T>C NM_020937.2:c.4812T>C(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.4812T>C NP_065988.1:p.Asp1604%3D FANCM SLX4 16 3658567 C/T 0 NM_032444.2 synonymous_variant NM_032444.2:c.399G>A NM_032444.2:c.399G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.399G>A NP_115820.2:p.Pro133%3D SLX4 PALB2 16 23614894 G/A 0 NM_024675.3 synonymous_variant NM_024675.3:c.3447C>T NM_024675.3:c.3447C>T(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.3447C>T NP_078951.2:p.Ala1149%3D PALB2 MET 7 116339672 T/T 8.85 NM_001127500.1 synonymous_variant NM_001127500.1:c.534C>T NM_001127500.1:c.534C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.534C>T NP_000236.2:p.Ser178%3D MET PTCH1 9 98238379 G/G 11.16 NM_000264.3 synonymous_variant NM_000264.3:c.1665T>C NM_000264.3:c.1665T>C(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.1665T>C NP_000255.2:p.Asn555%3D PTCH1 FANCA 16 89845232 C/T 0 NM_000135.2 synonymous_variant NM_000135.2:c.1803G>A NM_000135.2:c.1803G>A(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.1803G>A NP_000126.2:p.Val601%3D FANCA NF1 17 29550550 T/C 0.04 NM_001042492.2 synonymous_variant NM_001042492.2:c.1810T>C NM_001042492.2:c.1810T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.1810T>C NP_000258.1:p.Leu604%3D NF1 DIS3L2 2 232894775 C/T 0.1 NM_152383.4 synonymous_variant NM_152383.4:c.351C>T NM_152383.4:c.351C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.351C>T NP_689596.4:p.Pro117%3D DIS3L2 DIS3L2 2 233198606 C/T 0.08 NM_152383.4 synonymous_variant NM_152383.4:c.2067C>T NM_152383.4:c.2067C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2067C>T NP_689596.4:p.Tyr689%3D DIS3L2 MSH6 2 48018198 A/C 0 NM_000179.2 synonymous_variant NM_000179.2:c.393A>C NM_000179.2:c.393A>C(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.393A>C NP_000170.1:p.Val131%3D MSH6 SMAD4 18 48593536 C/T 0 NM_005359.5 synonymous_variant NM_005359.5:c.1287C>T NM_005359.5:c.1287C>T(p.=) NM_005359.5 synonymous_variant NM_005359.5:c.1287C>T NP_005350.1:p.Ile429%3D SMAD4 BUB1B 15 40462768 T/G 0 NM_001211.5 synonymous_variant NM_001211.5:c.270T>G NM_001211.5:c.270T>G(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.270T>G NP_001202.4:p.Pro90%3D BUB1B APC 5 112174096 C/T 0.04 NM_000038.5 synonymous_variant NM_000038.5:c.2805C>T NM_000038.5:c.2805C>T(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.2805C>T NP_000029.2:p.Tyr935%3D APC TSC2 16 2137902 G/A 0.02 NM_000548.3 synonymous_variant NM_000548.3:c.5028G>A NM_000548.3:c.5028G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.5028G>A NP_000539.2:p.Leu1676%3D TSC2 STK11 19 1221272 G/A 0 NM_000455.4 synonymous_variant NM_000455.4:c.795G>A NM_000455.4:c.795G>A(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.795G>A NP_000446.1:p.Glu265%3D STK11 BUB1B 15 40504705 T/C 0 NM_001211.5 synonymous_variant NM_001211.5:c.2391T>C NM_001211.5:c.2391T>C(p.=) NM_001211.5 synonymous_variant NM_001211.5:c.2391T>C NP_001202.4:p.Ser797%3D BUB1B TSC2 16 2138584 C/C 4.11 NM_000548.3 synonymous_variant NM_000548.3:c.5397G>C NM_000548.3:c.5397G>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.5397G>C NP_000539.2:p.Ser1799%3D TSC2 ATM,C11ORF65 11 108190715 T/C 0 NM_000051.3 synonymous_variant NM_000051.3:c.6382T>C NM_000051.3:c.6382T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.6382T>C NP_000042.3:p.Leu2128%3D ATM DIS3L2 2 233001274 C/T 0.06 NM_152383.4 synonymous_variant NM_152383.4:c.795C>T NM_152383.4:c.795C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.795C>T NP_689596.4:p.Tyr265%3D DIS3L2 EZH2 7 148515075 C/T 0 NM_004456.4 synonymous_variant NM_004456.4:c.1134G>A NM_004456.4:c.1134G>A(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.1134G>A NP_004447.2:p.Leu378%3D EZH2 SMAD4 18 48573644 A/G 0 NM_005359.5 synonymous_variant NM_005359.5:c.228A>G NM_005359.5:c.228A>G(p.=) NM_005359.5 synonymous_variant NM_005359.5:c.228A>G NP_005350.1:p.Arg76%3D SMAD4 ATM 11 108114792 C/T 0.1 NM_000051.3 synonymous_variant NM_000051.3:c.609C>T NM_000051.3:c.609C>T(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.609C>T NP_000042.3:p.Asp203%3D ATM DDB2 11 47237951 A/C 0 NM_000107.2 synonymous_variant NM_000107.2:c.192A>C NM_000107.2:c.192A>C(p.=) NM_000107.2 synonymous_variant NM_000107.2:c.192A>C NP_000098.1:p.Pro64%3D DDB2 FANCD2 3 10076902 G/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.423G>T NM_033084.3:c.423G>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.423G>T NP_149075.2:p.Gly141%3D FANCD2 PRF1 10 72360605 G/A 0 NM_005041.4 synonymous_variant NM_005041.4:c.54C>T NM_005041.4:c.54C>T(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.54C>T NP_005032.2:p.Pro18%3D PRF1 DIS3L2 2 232952286 G/G 11.24 NM_152383.4 synonymous_variant NM_152383.4:c.456A>G NM_152383.4:c.456A>G(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.456A>G NP_689596.4:p.Gln152%3D DIS3L2 PRF1 10 72358886 G/A 0 NM_005041.4 synonymous_variant NM_005041.4:c.591C>T NM_005041.4:c.591C>T(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.591C>T NP_005032.2:p.Leu197%3D PRF1 TSC2 16 2136214 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.4683C>T NM_000548.3:c.4683C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4683C>T NP_000539.2:p.Ile1561%3D TSC2 TP53 17 7578210 C/C 0.54 NM_000546.5 synonymous_variant NM_000546.5:c.639A>G NM_000546.5:c.639A>G(p.=) NM_000546.5 synonymous_variant NM_000546.5:c.639A>G NP_000537.3:p.Arg213%3D TP53 ERCC4 16 14041577 C/T 0 NM_005236.2 synonymous_variant NM_005236.2:c.2124C>T NM_005236.2:c.2124C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.2124C>T NP_005227.1:p.Pro708%3D ERCC4 BIVM-ERCC5,ERCC5 13 103527954 T/C 0 NM_001204425.1 synonymous_variant NM_001204425.1:c.4624T>C NM_001204425.1:c.4624T>C(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.3262T>C NP_000114.2:p.Leu1088%3D ERCC5 SBDS 7 66453460 A/A 1.82 NM_016038.2 synonymous_variant NM_016038.2:c.651C>T NM_016038.2:c.651C>T(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.651C>T NP_057122.2:p.Phe217%3D SBDS TSC1 9 135782725 T/G 0 NM_000368.4 synonymous_variant NM_000368.4:c.1296A>C NM_000368.4:c.1296A>C(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.1296A>C NP_000359.1:p.Leu432%3D TSC1 BIVM-ERCC5,ERCC5 13 103506172 G/A 0 NM_001204425.1 synonymous_variant NM_001204425.1:c.1692G>A NM_001204425.1:c.1692G>A(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.330G>A NP_000114.2:p.Leu110%3D ERCC5 FANCI 15 89844566 T/C 0 NM_001113378.1 synonymous_variant NM_001113378.1:c.2899T>C NM_001113378.1:c.2899T>C(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2899T>C NP_001106849.1:p.Leu967%3D FANCI APC 5 112174456 A/T 0.1 NM_000038.5 synonymous_variant NM_000038.5:c.3165A>T NM_000038.5:c.3165A>T(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.3165A>T NP_000029.2:p.Ile1055%3D APC TSC1 9 135780988 C/T 0.04 NM_000368.4 synonymous_variant NM_000368.4:c.1977G>A NM_000368.4:c.1977G>A(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.1977G>A NP_000359.1:p.Ala659%3D TSC1 GPC3 X 132795875 G/A 0 NM_001164617.1 synonymous_variant NM_001164617.1:c.1365C>T NM_001164617.1:c.1365C>T(p.=) NM_004484.3 synonymous_variant NM_004484.3:c.1296C>T NP_004475.1:p.Tyr432%3D GPC3 GATA2 3 128200018 A/G 0 NM_032638.4 synonymous_variant NM_032638.4:c.1287T>C NM_032638.4:c.1287T>C(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.1287T>C NP_116027.2:p.Ser429%3D GATA2 TSC2 16 2134994 C/T 0.02 NM_000548.3 synonymous_variant NM_000548.3:c.4536C>T NM_000548.3:c.4536C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4536C>T NP_000539.2:p.Asp1512%3D TSC2 NF2 22 30069392 G/A 0 NM_000268.3 synonymous_variant NM_000268.3:c.1257G>A NM_000268.3:c.1257G>A(p.=) NM_000268.3 synonymous_variant NM_000268.3:c.1257G>A NP_000259.1:p.Thr419%3D NF2 FANCM 14 45623937 A/G 0 NM_020937.2 synonymous_variant NM_020937.2:c.1221A>G NM_020937.2:c.1221A>G(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.1221A>G NP_065988.1:p.Glu407%3D FANCM NBN 8 90967627 T/C 0 NM_002485.4 synonymous_variant NM_002485.4:c.1281A>G NM_002485.4:c.1281A>G(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.1281A>G NP_002476.2:p.Pro427%3D NBN PRF1 10 72358574 C/T 0 NM_005041.4 synonymous_variant NM_005041.4:c.903G>A NM_005041.4:c.903G>A(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.903G>A NP_005032.2:p.Ser301%3D PRF1 DICER1 14 95570238 G/A 0 NM_177438.2 synonymous_variant NM_177438.2:c.3495C>T NM_177438.2:c.3495C>T(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.3495C>T NP_803187.1:p.His1165%3D DICER1 ATM,C11ORF65 11 108196145 C/T 0 NM_000051.3 synonymous_variant NM_000051.3:c.6681C>T NM_000051.3:c.6681C>T(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.6681C>T NP_000042.3:p.Arg2227%3D ATM STK11 19 1207176 C/A 2.38 NM_000455.4 synonymous_variant NM_000455.4:c.264C>A NM_000455.4:c.264C>A(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.264C>A NP_000446.1:p.Ile88%3D STK11 APC 5 112174762 G/A 0.04 NM_000038.5 synonymous_variant NM_000038.5:c.3471G>A NM_000038.5:c.3471G>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.3471G>A NP_000029.2:p.Glu1157%3D APC GPC3 X 132833931 G/A 0 NM_001164617.1 synonymous_variant NM_001164617.1:c.1227C>T NM_001164617.1:c.1227C>T(p.=) NM_004484.3 synonymous_variant NM_004484.3:c.1158C>T NP_004475.1:p.Ser386%3D GPC3 PTCH1 9 98238403 G/A 0.26 NM_000264.3 synonymous_variant NM_000264.3:c.1641C>T NM_000264.3:c.1641C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.1641C>T NP_000255.2:p.Ser547%3D PTCH1 RUNX1 21 36252870 G/A 0 NM_001754.4 synonymous_variant NM_001754.4:c.492C>T NM_001754.4:c.492C>T(p.=) NM_001754.4 synonymous_variant NM_001754.4:c.492C>T NP_001745.2:p.Val164%3D RUNX1 BRCA1 17 41246483 C/T 0.02 NM_007300.3 synonymous_variant NM_007300.3:c.1065G>A NM_007300.3:c.1065G>A(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.1065G>A NP_009225.1:p.Lys355%3D BRCA1 PTEN 10 89692963 A/G 0 NM_000314.4 synonymous_variant NM_000314.4:c.447A>G NM_000314.4:c.447A>G(p.=) NM_000314.4 synonymous_variant NM_000314.4:c.447A>G NP_000305.3:p.Gln149%3D PTEN WRN 8 30916038 A/G 0.1 NM_000553.4 synonymous_variant NM_000553.4:c.75A>G NM_000553.4:c.75A>G(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.75A>G NP_000544.2:p.Arg25%3D WRN NF1 17 29553470 C/T 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.2019C>T NM_001042492.2:c.2019C>T(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2019C>T NP_000258.1:p.Cys673%3D NF1 FANCF 11 22647261 G/A 1.36 NM_022725.3 synonymous_variant NM_022725.3:c.96C>T NM_022725.3:c.96C>T(p.=) NM_022725.3 synonymous_variant NM_022725.3:c.96C>T NP_073562.1:p.Arg32%3D FANCF BRCA1 17 41245670 T/C 0 NM_007300.3 synonymous_variant NM_007300.3:c.1878A>G NM_007300.3:c.1878A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.1878A>G NP_009225.1:p.Val626%3D BRCA1 ATM 11 108175539 G/A 0 NM_000051.3 synonymous_variant NM_000051.3:c.5634G>A NM_000051.3:c.5634G>A(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.5634G>A NP_000042.3:p.Ser1878%3D ATM FANCM 14 45645785 G/A 0 NM_020937.2 synonymous_variant NM_020937.2:c.3828G>A NM_020937.2:c.3828G>A(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.3828G>A NP_065988.1:p.Ser1276%3D FANCM MSH6 2 48030692 T/A 4.93 NM_000179.2 synonymous_variant NM_000179.2:c.3306T>A NM_000179.2:c.3306T>A(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.3306T>A NP_000170.1:p.Thr1102%3D MSH6 DDB2 11 47259719 C/T 0 NM_000107.2 synonymous_variant NM_000107.2:c.1219C>T NM_000107.2:c.1219C>T(p.=) NM_000107.2 synonymous_variant NM_000107.2:c.1219C>T NP_000098.1:p.Leu407%3D DDB2 APC 5 112177817 T/C 0.02 NM_000038.5 synonymous_variant NM_000038.5:c.6526T>C NM_000038.5:c.6526T>C(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.6526T>C NP_000029.2:p.Leu2176%3D APC ERCC4 16 14041631 C/T 0 NM_005236.2 synonymous_variant NM_005236.2:c.2178C>T NM_005236.2:c.2178C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.2178C>T NP_005227.1:p.Arg726%3D ERCC4 PRKAR1A 17 66521951 A/G 0 NM_212471.2 synonymous_variant NM_212471.2:c.606A>G NM_212471.2:c.606A>G(p.=) NM_002734.4 synonymous_variant NM_002734.4:c.606A>G NP_002725.1:p.Glu202%3D PRKAR1A FANCA 16 89831355 G/A 0 NM_000135.2 synonymous_variant NM_000135.2:c.2721C>T NM_000135.2:c.2721C>T(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.2721C>T NP_000126.2:p.Ala907%3D FANCA PMS2 7 6043419 C/T 0 NM_000535.5 synonymous_variant NM_000535.5:c.255G>A NM_000535.5:c.255G>A(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.255G>A NP_000526.1:p.Leu85%3D PMS2 DIS3L2 2 233198588 A/G 0 NM_152383.4 synonymous_variant NM_152383.4:c.2049A>G NM_152383.4:c.2049A>G(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2049A>G NP_689596.4:p.Pro683%3D DIS3L2 RECQL4 8 145741792 T/C 0 NM_004260.3 synonymous_variant NM_004260.3:c.711A>G NM_004260.3:c.711A>G(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.711A>G NP_004251.3:p.Pro237%3D RECQL4 ATM 11 108114840 T/C 2.8 NM_000051.3 synonymous_variant NM_000051.3:c.657T>C NM_000051.3:c.657T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.657T>C NP_000042.3:p.Cys219%3D ATM ATM,C11ORF65 11 108218013 C/T 0.04 NM_000051.3 synonymous_variant NM_000051.3:c.8592C>T NM_000051.3:c.8592C>T(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.8592C>T NP_000042.3:p.Tyr2864%3D ATM CDH1 16 68835733 A/G 0.34 NM_004360.3 synonymous_variant NM_004360.3:c.324A>G NM_004360.3:c.324A>G(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.324A>G NP_004351.1:p.Arg108%3D CDH1 BLM 15 91333953 C/G 0 NM_000057.2 synonymous_variant NM_000057.2:c.2898C>G NM_000057.2:c.2898C>G(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.2898C>G NP_000048.1:p.Leu966%3D BLM HNF1A 12 121426645 A/A 0 NM_000545.5 synonymous_variant NM_000545.5:c.336G>A NM_000545.5:c.336G>A(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.336G>A NP_000536.5:p.Pro112%3D HNF1A HNF1A 12 121437108 T/T 0 NM_000545.5 synonymous_variant NM_000545.5:c.1539C>T NM_000545.5:c.1539C>T(p.=) NM_000545.5 synonymous_variant NM_000545.5:c.1539C>T NP_000536.5:p.Thr513%3D HNF1A BRCA2 13 32971139 G/C 0 NM_000059.3 synonymous_variant NM_000059.3:c.9606G>C NM_000059.3:c.9606G>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.9606G>C NP_000050.2:p.Pro3202%3D BRCA2 DICER1 14 95572099 T/C 0 NM_177438.2 synonymous_variant NM_177438.2:c.3009A>G NM_177438.2:c.3009A>G(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.3009A>G NP_803187.1:p.Arg1003%3D DICER1 STK11 19 1226538 G/A 0.02 NM_000455.4 synonymous_variant NM_000455.4:c.1194G>A NM_000455.4:c.1194G>A(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.1194G>A NP_000446.1:p.Ala398%3D STK11 DIS3L2 2 233128021 G/A 0 NM_152383.4 synonymous_variant NM_152383.4:c.1530G>A NM_152383.4:c.1530G>A(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1530G>A NP_689596.4:p.Ala510%3D DIS3L2 NSD1 5 176562950 A/C 0.02 NM_022455.4 synonymous_variant NM_022455.4:c.846A>C NM_022455.4:c.846A>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.846A>C NP_071900.2:p.Pro282%3D NSD1 SLX4 16 3651132 C/T 0 NM_032444.2 synonymous_variant NM_032444.2:c.1011G>A NM_032444.2:c.1011G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1011G>A NP_115820.2:p.Pro337%3D SLX4 RHBDF2 17 74475014 C/T 0.22 NM_024599.5 synonymous_variant NM_024599.5:c.633G>A NM_024599.5:c.633G>A(p.=) NM_001005498.3 synonymous_variant NM_001005498.3:c.546G>A NP_001005498.2:p.Pro182%3D RHBDF2 EXT1 8 118825174 G/A 0 NM_000127.2 synonymous_variant NM_000127.2:c.1659C>T NM_000127.2:c.1659C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1659C>T NP_000118.2:p.Tyr553%3D EXT1 CEBPA 19 33792952 T/C 0 NM_004364.3 synonymous_variant NM_004364.3:c.369A>G NM_004364.3:c.369A>G(p.=) NM_004364.3 synonymous_variant NM_004364.3:c.369A>G NP_004355.2:p.Gly123%3D CEBPA CYLD 16 50815180 G/A 0 NM_015247.2 synonymous_variant NM_015247.2:c.1542G>A NM_015247.2:c.1542G>A(p.=) NM_001042412.1 synonymous_variant NM_001042412.1:c.1533G>A NP_001035877.1:p.Thr511%3D CYLD BRIP1 17 59934555 T/C 0 NM_032043.2 synonymous_variant NM_032043.2:c.243A>G NM_032043.2:c.243A>G(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.243A>G NP_114432.2:p.Glu81%3D BRIP1 VHL 3 10183789 C/G 0 NM_000551.3 synonymous_variant NM_000551.3:c.258C>G NM_000551.3:c.258C>G(p.=) NM_000551.3 synonymous_variant NM_000551.3:c.258C>G NP_000542.1:p.Pro86%3D VHL MSH6 2 48027361 C/T 0 NM_000179.2 synonymous_variant NM_000179.2:c.2239C>T NM_000179.2:c.2239C>T(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.2239C>T NP_000170.1:p.Leu747%3D MSH6 NF1 17 29556177 G/A 2.69 NM_001042492.2 synonymous_variant NM_001042492.2:c.2544G>A NM_001042492.2:c.2544G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2544G>A NP_000258.1:p.Gly848%3D NF1 EGFR 7 55233071 C/T 0 NM_005228.3 synonymous_variant NM_005228.3:c.1821C>T NM_005228.3:c.1821C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.1821C>T NP_005219.2:p.Val607%3D EGFR RET 10 43606702 C/T 0 NM_020975.4 synonymous_variant NM_020975.4:c.1311C>T NM_020975.4:c.1311C>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1311C>T NP_066124.1:p.Asn437%3D RET FANCD2 3 10084751 G/A 0 NM_033084.3 synonymous_variant NM_033084.3:c.906G>A NM_033084.3:c.906G>A(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.906G>A NP_149075.2:p.Arg302%3D FANCD2 TSC2 16 2129111 G/A 0 NM_000548.3 synonymous_variant NM_000548.3:c.3045G>A NM_000548.3:c.3045G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.3045G>A NP_000539.2:p.Leu1015%3D TSC2 PTCH1 9 98218669 G/A 0.04 NM_000264.3 synonymous_variant NM_000264.3:c.3195C>T NM_000264.3:c.3195C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.3195C>T NP_000255.2:p.Val1065%3D PTCH1 PTCH1 9 98209401 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.4137C>T NM_000264.3:c.4137C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.4137C>T NP_000255.2:p.Val1379%3D PTCH1 ATM 11 108139204 G/A 0 NM_000051.3 synonymous_variant NM_000051.3:c.2706G>A NM_000051.3:c.2706G>A(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.2706G>A NP_000042.3:p.Lys902%3D ATM BRCA1 17 41223167 A/G 0 NM_007300.3 synonymous_variant NM_007300.3:c.4827T>C NM_007300.3:c.4827T>C(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.4764T>C NP_009225.1:p.Ala1588%3D BRCA1 RUNX1 21 36206858 G/A 0.08 NM_001754.4 synonymous_variant NM_001754.4:c.654C>T NM_001754.4:c.654C>T(p.=) NM_001754.4 synonymous_variant NM_001754.4:c.654C>T NP_001745.2:p.Ser218%3D RUNX1 HRAS 11 533879 G/C 0 NM_005343.2 synonymous_variant NM_005343.2:c.177C>G NM_005343.2:c.177C>G(p.=) NM_005343.2 synonymous_variant NM_005343.2:c.177C>G NP_005334.1:p.Ala59%3D HRAS EZH2 7 148524327 A/G 0.06 NM_004456.4 synonymous_variant NM_004456.4:c.657T>C NM_004456.4:c.657T>C(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.657T>C NP_004447.2:p.Pro219%3D EZH2 BRCA1 17 41245799 T/C 0 NM_007300.3 synonymous_variant NM_007300.3:c.1749A>G NM_007300.3:c.1749A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.1749A>G NP_009225.1:p.Lys583%3D BRCA1 RHBDF2 17 74475050 C/T 0.04 NM_024599.5 synonymous_variant NM_024599.5:c.597G>A NM_024599.5:c.597G>A(p.=) NM_001005498.3 synonymous_variant NM_001005498.3:c.510G>A NP_001005498.2:p.Pro170%3D RHBDF2 KIT 4 55604639 C/T 1.76 NM_000222.2 synonymous_variant NM_000222.2:c.2847C>T NM_000222.2:c.2847C>T(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.2847C>T NP_000213.1:p.Pro949%3D KIT RUNX1 21 36252918 G/A 0 NM_001754.4 synonymous_variant NM_001754.4:c.444C>T NM_001754.4:c.444C>T(p.=) NM_001754.4 synonymous_variant NM_001754.4:c.444C>T NP_001745.2:p.Thr148%3D RUNX1 FANCD2 3 10091084 T/C 0.2 NM_033084.3 synonymous_variant NM_033084.3:c.1440T>C NM_033084.3:c.1440T>C(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.1440T>C NP_149075.2:p.His480%3D FANCD2 XPA 9 100455941 A/T 0 NM_000380.3 synonymous_variant NM_000380.3:c.273T>A NM_000380.3:c.273T>A(p.=) NM_000380.3 synonymous_variant NM_000380.3:c.273T>A NP_000371.1:p.Val91%3D XPA WT1 11 32456448 G/A 0 NM_024426.4 synonymous_variant NM_024426.4:c.444C>T NM_024426.4:c.444C>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.444C>T NP_077744.3:p.Gly148%3D WT1 BMPR1A 10 88676992 G/A 0.24 NM_004329.2 synonymous_variant NM_004329.2:c.777G>A NM_004329.2:c.777G>A(p.=) NM_004329.2 synonymous_variant NM_004329.2:c.777G>A NP_004320.2:p.Ala259%3D BMPR1A PALB2 16 23646261 G/A 0.22 NM_024675.3 synonymous_variant NM_024675.3:c.1606C>T NM_024675.3:c.1606C>T(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.1606C>T NP_078951.2:p.Leu536%3D PALB2 BRCA1 17 41244815 T/C 0.06 NM_007300.3 synonymous_variant NM_007300.3:c.2733A>G NM_007300.3:c.2733A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2733A>G NP_009225.1:p.Gly911%3D BRCA1 BRCA1 17 41246567 T/C 0.06 NM_007300.3 synonymous_variant NM_007300.3:c.981A>G NM_007300.3:c.981A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.981A>G NP_009225.1:p.Thr327%3D BRCA1 FLCN 17 17125868 A/A 2.78 NM_144997.5 synonymous_variant NM_144997.5:c.726A>T NM_144997.5:c.726A>T(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.726A>T NP_659434.2:p.Thr242%3D FLCN ERCC4 16 14029047 C/T 0 NM_005236.2 synonymous_variant NM_005236.2:c.1258C>T NM_005236.2:c.1258C>T(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.1258C>T NP_005227.1:p.Leu420%3D ERCC4 BRCA1 17 41246306 G/A 0.02 NM_007300.3 synonymous_variant NM_007300.3:c.1242C>T NM_007300.3:c.1242C>T(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.1242C>T NP_009225.1:p.Asp414%3D BRCA1 MSH6 2 48026190 T/C 0 NM_000179.2 synonymous_variant NM_000179.2:c.1068T>C NM_000179.2:c.1068T>C(p.=) NM_000179.2 synonymous_variant NM_000179.2:c.1068T>C NP_000170.1:p.Gly356%3D MSH6 BLM 15 91306338 G/A 0 NM_000057.2 synonymous_variant NM_000057.2:c.2025G>A NM_000057.2:c.2025G>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.2025G>A NP_000048.1:p.Ala675%3D BLM BRCA2 13 32972673 C/T 0.02 NM_000059.3 synonymous_variant NM_000059.3:c.10023C>T NM_000059.3:c.10023C>T(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.10023C>T NP_000050.2:p.Asp3341%3D BRCA2 ERCC4 16 14038658 A/G 0 NM_005236.2 synonymous_variant NM_005236.2:c.1983A>G NM_005236.2:c.1983A>G(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.1983A>G NP_005227.1:p.Ala661%3D ERCC4 ERCC3 2 128044466 G/A 0.12 NM_000122.1 synonymous_variant NM_000122.1:c.1155C>T NM_000122.1:c.1155C>T(p.=) NM_000122.1 synonymous_variant NM_000122.1:c.1155C>T NP_000113.1:p.Asp385%3D ERCC3 DIS3L2 2 233199104 G/A 0 NM_152383.4 synonymous_variant NM_152383.4:c.2184G>A NM_152383.4:c.2184G>A(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2184G>A NP_689596.4:p.Ala728%3D DIS3L2 NSD1 5 176639096 A/G 0 NM_022455.4 synonymous_variant NM_022455.4:c.3696A>G NM_022455.4:c.3696A>G(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.3696A>G NP_071900.2:p.Pro1232%3D NSD1 EGFR 7 55210004 C/T 0 NM_005228.3 synonymous_variant NM_005228.3:c.114C>T NM_005228.3:c.114C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.114C>T NP_005219.2:p.Leu38%3D EGFR DICER1 14 95571416 C/T 0 NM_177438.2 synonymous_variant NM_177438.2:c.3261G>A NM_177438.2:c.3261G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.3261G>A NP_803187.1:p.Ala1087%3D DICER1 DIS3L2 2 233199400 C/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.2349C>T NM_152383.4:c.2349C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2349C>T NP_689596.4:p.Asp783%3D DIS3L2 BIVM-ERCC5,ERCC5 13 103514786 T/C 0.06 NM_001204425.1 synonymous_variant NM_001204425.1:c.2649T>C NM_001204425.1:c.2649T>C(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.1287T>C NP_000114.2:p.Asp429%3D ERCC5 TSC1 9 135786867 C/T 0.02 NM_000368.4 synonymous_variant NM_000368.4:c.1002G>A NM_000368.4:c.1002G>A(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.1002G>A NP_000359.1:p.Ser334%3D TSC1 NSD1 5 176678754 G/A 0 NM_022455.4 synonymous_variant NM_022455.4:c.4665G>A NM_022455.4:c.4665G>A(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.4665G>A NP_071900.2:p.Leu1555%3D NSD1 PMS2 7 6026836 C/T 0.02 NM_000535.5 synonymous_variant NM_000535.5:c.1560G>A NM_000535.5:c.1560G>A(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.1560G>A NP_000526.1:p.Ala520%3D PMS2 SMARCB1 22 24167468 A/G 0 NM_003073.3 synonymous_variant NM_003073.3:c.852A>G NM_003073.3:c.852A>G(p.=) NM_003073.3 synonymous_variant NM_003073.3:c.852A>G NP_003064.2:p.Ser284%3D SMARCB1 ATM 11 108178650 T/C 0 NM_000051.3 synonymous_variant NM_000051.3:c.5701T>C NM_000051.3:c.5701T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.5701T>C NP_000042.3:p.Leu1901%3D ATM RECQL4 8 145741798 C/T 0 NM_004260.3 synonymous_variant NM_004260.3:c.705G>A NM_004260.3:c.705G>A(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.705G>A NP_004251.3:p.Gln235%3D RECQL4 DICER1 14 95582850 C/T 0.04 NM_177438.2 synonymous_variant NM_177438.2:c.1692G>A NM_177438.2:c.1692G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.1692G>A NP_803187.1:p.Ala564%3D DICER1 ERCC3 2 128047346 G/A 0 NM_000122.1 synonymous_variant NM_000122.1:c.576C>T NM_000122.1:c.576C>T(p.=) NM_000122.1 synonymous_variant NM_000122.1:c.576C>T NP_000113.1:p.Pro192%3D ERCC3 FANCG 9 35079185 T/G 0 NM_004629.1 synonymous_variant NM_004629.1:c.138A>C NM_004629.1:c.138A>C(p.=) NM_004629.1 synonymous_variant NM_004629.1:c.138A>C NP_004620.1:p.Ala46%3D FANCG BLM 15 91295024 C/T 0.02 NM_000057.2 synonymous_variant NM_000057.2:c.807C>T NM_000057.2:c.807C>T(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.807C>T NP_000048.1:p.Ser269%3D BLM BLM 15 91341564 T/C 0.02 NM_000057.2 synonymous_variant NM_000057.2:c.3355T>C NM_000057.2:c.3355T>C(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3355T>C NP_000048.1:p.Leu1119%3D BLM PALB2 16 23614975 G/A 0 NM_024675.3 synonymous_variant NM_024675.3:c.3366C>T NM_024675.3:c.3366C>T(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.3366C>T NP_078951.2:p.Asp1122%3D PALB2 RET 10 43606699 C/T 0 NM_020975.4 synonymous_variant NM_020975.4:c.1308C>T NM_020975.4:c.1308C>T(p.=) NM_020975.4 synonymous_variant NM_020975.4:c.1308C>T NP_066124.1:p.Ile436%3D RET CEP57 11 95561072 A/G 0 NM_014679.4 synonymous_variant NM_014679.4:c.1008A>G NM_014679.4:c.1008A>G(p.=) NM_014679.4 synonymous_variant NM_014679.4:c.1008A>G NP_055494.2:p.Val336%3D CEP57 STK11 19 1221320 G/A 0 NM_000455.4 synonymous_variant NM_000455.4:c.843G>A NM_000455.4:c.843G>A(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.843G>A NP_000446.1:p.Pro281%3D STK11 ALK 2 29462690 C/T 0 NM_004304.4 synonymous_variant NM_004304.4:c.2211G>A NM_004304.4:c.2211G>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2211G>A NP_004295.2:p.Ser737%3D ALK EXT2 11 44265726 A/G 0 NM_000401.3 synonymous_variant NM_000401.3:c.2145A>G NM_000401.3:c.2145A>G(p.=) NM_207122.1 synonymous_variant NM_207122.1:c.2046A>G NP_997005.1:p.Ser682%3D EXT2 ALK 2 30143292 C/T 0 NM_004304.4 synonymous_variant NM_004304.4:c.234G>A NM_004304.4:c.234G>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.234G>A NP_004295.2:p.Ser78%3D ALK NSD1 5 176721506 A/G 0 NM_022455.4 synonymous_variant NM_022455.4:c.7137A>G NM_022455.4:c.7137A>G(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.7137A>G NP_071900.2:p.Ser2379%3D NSD1 ALK 2 29443584 G/T 0 NM_004304.4 synonymous_variant NM_004304.4:c.3633C>A NM_004304.4:c.3633C>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3633C>A NP_004295.2:p.Thr1211%3D ALK APC 5 112179436 C/T 0 NM_000038.5 synonymous_variant NM_000038.5:c.8145C>T NM_000038.5:c.8145C>T(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.8145C>T NP_000029.2:p.Thr2715%3D APC FANCC 9 97912237 C/T 0 NM_000136.2 synonymous_variant NM_000136.2:c.654G>A NM_000136.2:c.654G>A(p.=) NM_000136.2 synonymous_variant NM_000136.2:c.654G>A NP_000127.2:p.Glu218%3D FANCC BLM 15 91312736 G/A 0 NM_000057.2 synonymous_variant NM_000057.2:c.2475G>A NM_000057.2:c.2475G>A(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.2475G>A NP_000048.1:p.Pro825%3D BLM NF1 17 29533305 G/A 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.1308G>A NM_001042492.2:c.1308G>A(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.1308G>A NP_000258.1:p.Ser436%3D NF1 BLM 15 91303941 A/G 0 NM_000057.2 synonymous_variant NM_000057.2:c.1338A>G NM_000057.2:c.1338A>G(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.1338A>G NP_000048.1:p.Thr446%3D BLM GATA2 3 128202760 G/A 0 NM_032638.4 synonymous_variant NM_032638.4:c.960C>T NM_032638.4:c.960C>T(p.=) NM_032638.4 synonymous_variant NM_032638.4:c.960C>T NP_116027.2:p.Gly320%3D GATA2 EGFR 7 55268916 T/T 14.18 NM_005228.3 synonymous_variant NM_005228.3:c.2982C>T NM_005228.3:c.2982C>T(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2982C>T NP_005219.2:p.Asp994%3D EGFR TSC2 16 2106740 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.744C>T NM_000548.3:c.744C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.744C>T NP_000539.2:p.Asn248%3D TSC2 TSC1 9 135772717 A/A 6.21 NM_000368.4 synonymous_variant NM_000368.4:c.2829C>T NM_000368.4:c.2829C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.2829C>T NP_000359.1:p.Ala943%3D TSC1 CHEK2 22 29085168 C/G 0 NM_001005735.1 synonymous_variant NM_001005735.1:c.1626G>C NM_001005735.1:c.1626G>C(p.=) NM_007194.3 synonymous_variant NM_007194.3:c.1497G>C NP_009125.1:p.Leu499%3D CHEK2 ALK 2 29443617 C/G 1.08 NM_004304.4 synonymous_variant NM_004304.4:c.3600G>C NM_004304.4:c.3600G>C(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.3600G>C NP_004295.2:p.Ala1200%3D ALK ALK 2 29474027 G/A 0.28 NM_004304.4 synonymous_variant NM_004304.4:c.2148C>T NM_004304.4:c.2148C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.2148C>T NP_004295.2:p.Ser716%3D ALK APC 5 112175608 T/A 0 NM_000038.5 synonymous_variant NM_000038.5:c.4317T>A NM_000038.5:c.4317T>A(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.4317T>A NP_000029.2:p.Pro1439%3D APC WRN 8 31000145 G/A 0.58 NM_000553.4 synonymous_variant NM_000553.4:c.3237G>A NM_000553.4:c.3237G>A(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.3237G>A NP_000544.2:p.Ser1079%3D WRN FANCC 9 97897655 G/A 0.4 NM_000136.2 synonymous_variant NM_000136.2:c.816C>T NM_000136.2:c.816C>T(p.=) NM_000136.2 synonymous_variant NM_000136.2:c.816C>T NP_000127.2:p.Ile272%3D FANCC BIVM-ERCC5,ERCC5 13 103518162 C/A 2 NM_001204425.1 synonymous_variant NM_001204425.1:c.3462C>A NM_001204425.1:c.3462C>A(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.2100C>A NP_000114.2:p.Leu700%3D ERCC5 PALB2 16 23641408 C/T 0 NM_024675.3 synonymous_variant NM_024675.3:c.2067G>A NM_024675.3:c.2067G>A(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.2067G>A NP_078951.2:p.Ser689%3D PALB2 BRIP1 17 59821818 G/A 0 NM_032043.2 synonymous_variant NM_032043.2:c.2232C>T NM_032043.2:c.2232C>T(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.2232C>T NP_114432.2:p.Asp744%3D BRIP1 FANCI 15 89834907 C/T 0 NM_001113378.1 synonymous_variant NM_001113378.1:c.1954C>T NM_001113378.1:c.1954C>T(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.1954C>T NP_001106849.1:p.Leu652%3D FANCI APC 5 112178035 A/G 0 NM_000038.5 synonymous_variant NM_000038.5:c.6744A>G NM_000038.5:c.6744A>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.6744A>G NP_000029.2:p.Lys2248%3D APC RB1 13 49050923 T/G 0 NM_000321.2 synonymous_variant NM_000321.2:c.2607T>G NM_000321.2:c.2607T>G(p.=) NM_000321.2 synonymous_variant NM_000321.2:c.2607T>G NP_000312.2:p.Pro869%3D RB1 BRCA1 17 41244113 A/G 0 NM_007300.3 synonymous_variant NM_007300.3:c.3435T>C NM_007300.3:c.3435T>C(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.3435T>C NP_009225.1:p.Val1145%3D BRCA1 BRCA1 17 41199715 G/A 0 NM_007300.3 synonymous_variant NM_007300.3:c.5475C>T NM_007300.3:c.5475C>T(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.5412C>T NP_009225.1:p.Val1804%3D BRCA1 DIS3L2 2 233199140 C/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.2220C>T NM_152383.4:c.2220C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2220C>T NP_689596.4:p.Asn740%3D DIS3L2 WT1 11 32456880 C/T 0.02 NM_024426.4 synonymous_variant NM_024426.4:c.12G>A NM_024426.4:c.12G>A(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.12G>A NP_077744.3:p.Pro4%3D WT1 PRF1 10 72358658 A/G 0 NM_005041.4 synonymous_variant NM_005041.4:c.819T>C NM_005041.4:c.819T>C(p.=) NM_005041.4 synonymous_variant NM_005041.4:c.819T>C NP_005032.2:p.Ser273%3D PRF1 NBN 8 90993061 A/G 0.22 NM_002485.4 synonymous_variant NM_002485.4:c.381T>C NM_002485.4:c.381T>C(p.=) NM_002485.4 synonymous_variant NM_002485.4:c.381T>C NP_002476.2:p.Ala127%3D NBN BIVM-ERCC5,ERCC5 13 103518045 T/C 0 NM_001204425.1 synonymous_variant NM_001204425.1:c.3345T>C NM_001204425.1:c.3345T>C(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.1983T>C NP_000114.2:p.Ile661%3D ERCC5 FANCD2 3 10106533 G/A 0.02 NM_033084.3 synonymous_variant NM_033084.3:c.2142G>A NM_033084.3:c.2142G>A(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.2142G>A NP_149075.2:p.Pro714%3D FANCD2 NF1 17 29556201 C/T 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.2568C>T NM_001042492.2:c.2568C>T(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2568C>T NP_000258.1:p.Ser856%3D NF1 NF1 17 29557311 A/G 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.3024A>G NM_001042492.2:c.3024A>G(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.3024A>G NP_000258.1:p.Ala1008%3D NF1 BMPR1A 10 88659574 C/T 0 NM_004329.2 synonymous_variant NM_004329.2:c.357C>T NM_004329.2:c.357C>T(p.=) NM_004329.2 synonymous_variant NM_004329.2:c.357C>T NP_004320.2:p.Arg119%3D BMPR1A TSC2 16 2133703 C/G 0 NM_000548.3 synonymous_variant NM_000548.3:c.3891C>G NM_000548.3:c.3891C>G(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.3891C>G NP_000539.2:p.Ala1297%3D TSC2 PTCH1 9 98229624 C/T 0 NM_000264.3 synonymous_variant NM_000264.3:c.2334G>A NM_000264.3:c.2334G>A(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.2334G>A NP_000255.2:p.Thr778%3D PTCH1 NF1 17 29661998 A/G 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.5955A>G NM_001042492.2:c.5955A>G(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.5892A>G NP_000258.1:p.Glu1964%3D NF1 DICER1 14 95570424 G/A 0 NM_177438.2 synonymous_variant NM_177438.2:c.3309C>T NM_177438.2:c.3309C>T(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.3309C>T NP_803187.1:p.Asp1103%3D DICER1 MSH2 2 47635667 G/A 0.1 NM_000251.2 synonymous_variant NM_000251.2:c.339G>A NM_000251.2:c.339G>A(p.=) NM_000251.2 synonymous_variant NM_000251.2:c.339G>A NP_000242.1:p.Lys113%3D MSH2 DIS3L2 2 233198618 G/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.2079G>T NM_152383.4:c.2079G>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.2079G>T NP_689596.4:p.Val693%3D DIS3L2 MLH1 3 37048539 A/G 0 NM_000249.3 synonymous_variant NM_000249.3:c.438A>G NM_000249.3:c.438A>G(p.=) NM_000249.3 synonymous_variant NM_000249.3:c.438A>G NP_000240.1:p.Gln146%3D MLH1 CDH1 16 68847302 G/A 0.02 NM_004360.3 synonymous_variant NM_004360.3:c.1224G>A NM_004360.3:c.1224G>A(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.1224G>A NP_004351.1:p.Ala408%3D CDH1 NF1 17 29556261 T/C 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.2628T>C NM_001042492.2:c.2628T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.2628T>C NP_000258.1:p.Ser876%3D NF1 TSC1 9 135781216 G/A 0 NM_000368.4 synonymous_variant NM_000368.4:c.1749C>T NM_000368.4:c.1749C>T(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.1749C>T NP_000359.1:p.Pro583%3D TSC1 ALK 2 29416201 G/A 0 NM_004304.4 synonymous_variant NM_004304.4:c.4752C>T NM_004304.4:c.4752C>T(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.4752C>T NP_004295.2:p.Tyr1584%3D ALK WRN 8 30958372 G/A 0.02 NM_000553.4 synonymous_variant NM_000553.4:c.1989G>A NM_000553.4:c.1989G>A(p.=) NM_000553.4 synonymous_variant NM_000553.4:c.1989G>A NP_000544.2:p.Thr663%3D WRN SMAD4 18 48584807 G/A 0 NM_005359.5 synonymous_variant NM_005359.5:c.885G>A NM_005359.5:c.885G>A(p.=) NM_005359.5 synonymous_variant NM_005359.5:c.885G>A NP_005350.1:p.Pro295%3D SMAD4 PTCH1 9 98248025 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.526C>T NM_000264.3:c.526C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.526C>T NP_000255.2:p.Leu176%3D PTCH1 RB1 13 49027188 C/T 0 NM_000321.2 synonymous_variant NM_000321.2:c.1755C>T NM_000321.2:c.1755C>T(p.=) NM_000321.2 synonymous_variant NM_000321.2:c.1755C>T NP_000312.2:p.His585%3D RB1 CDH1 16 68845687 C/G 0.78 NM_004360.3 synonymous_variant NM_004360.3:c.933C>G NM_004360.3:c.933C>G(p.=) NM_004360.3 synonymous_variant NM_004360.3:c.933C>G NP_004351.1:p.Leu311%3D CDH1 PTCH1 9 98209398 G/A 0 NM_000264.3 synonymous_variant NM_000264.3:c.4140C>T NM_000264.3:c.4140C>T(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.4140C>T NP_000255.2:p.Ala1380%3D PTCH1 MET 7 116381037 C/T 0 NM_001127500.1 synonymous_variant NM_001127500.1:c.1659C>T NM_001127500.1:c.1659C>T(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.1659C>T NP_000236.2:p.Ser553%3D MET FANCA 16 89842220 T/C 0.02 NM_000135.2 synonymous_variant NM_000135.2:c.1830A>G NM_000135.2:c.1830A>G(p.=) NM_000135.2 synonymous_variant NM_000135.2:c.1830A>G NP_000126.2:p.Ala610%3D FANCA BRIP1 17 59937167 T/C 0.12 NM_032043.2 synonymous_variant NM_032043.2:c.195A>G NM_032043.2:c.195A>G(p.=) NM_032043.2 synonymous_variant NM_032043.2:c.195A>G NP_114432.2:p.Gln65%3D BRIP1 WT1 11 32456526 G/C 0 NM_024426.4 synonymous_variant NM_024426.4:c.366C>G NM_024426.4:c.366C>G(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.366C>G NP_077744.3:p.Pro122%3D WT1 BRCA2 13 32899220 T/C 0 NM_000059.3 synonymous_variant NM_000059.3:c.324T>C NM_000059.3:c.324T>C(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.324T>C NP_000050.2:p.Asn108%3D BRCA2 FANCM 14 45644627 T/C 3.57 NM_020937.2 synonymous_variant NM_020937.2:c.2670T>C NM_020937.2:c.2670T>C(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.2670T>C NP_065988.1:p.Phe890%3D FANCM NSD1 5 176722341 T/C 0 NM_022455.4 synonymous_variant NM_022455.4:c.7972T>C NM_022455.4:c.7972T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.7972T>C NP_071900.2:p.Leu2658%3D NSD1 BRCA1 17 41246621 T/C 0 NM_007300.3 synonymous_variant NM_007300.3:c.927A>G NM_007300.3:c.927A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.927A>G NP_009225.1:p.Lys309%3D BRCA1 BAP1 3 52443620 G/T 0 NM_004656.3 synonymous_variant NM_004656.3:c.72C>A NM_004656.3:c.72C>A(p.=) NM_004656.3 synonymous_variant NM_004656.3:c.72C>A NP_004647.1:p.Val24%3D BAP1 TSC1 9 135781239 G/G 1.26 NM_000368.4 synonymous_variant NM_000368.4:c.1726T>C NM_000368.4:c.1726T>C(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.1726T>C NP_000359.1:p.Leu576%3D TSC1 FANCF 11 22646571 T/C 2.26 NM_022725.3 synonymous_variant NM_022725.3:c.786A>G NM_022725.3:c.786A>G(p.=) NM_022725.3 synonymous_variant NM_022725.3:c.786A>G NP_073562.1:p.Leu262%3D FANCF SLX4 16 3644496 G/A 0 NM_032444.2 synonymous_variant NM_032444.2:c.2118C>T NM_032444.2:c.2118C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.2118C>T NP_115820.2:p.His706%3D SLX4 BLM 15 91337584 A/G 0 NM_000057.2 synonymous_variant NM_000057.2:c.3207A>G NM_000057.2:c.3207A>G(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3207A>G NP_000048.1:p.Thr1069%3D BLM BLM 15 91310157 G/T 0 NM_000057.2 synonymous_variant NM_000057.2:c.2211G>T NM_000057.2:c.2211G>T(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.2211G>T NP_000048.1:p.Leu737%3D BLM SLX4 16 3656653 T/C 0 NM_032444.2 synonymous_variant NM_032444.2:c.582A>G NM_032444.2:c.582A>G(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.582A>G NP_115820.2:p.Thr194%3D SLX4 RAD51C 17 56780681 A/G 0 NM_058216.2 synonymous_variant NM_058216.2:c.696A>G NM_058216.2:c.696A>G(p.=) NM_058216.2 synonymous_variant NM_058216.2:c.696A>G NP_478123.1:p.Glu232%3D RAD51C NSD1 5 176721032 T/C 0 NM_022455.4 synonymous_variant NM_022455.4:c.6663T>C NM_022455.4:c.6663T>C(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.6663T>C NP_071900.2:p.Tyr2221%3D NSD1 FANCM 14 45653000 G/A 0.06 NM_020937.2 synonymous_variant NM_020937.2:c.4410G>A NM_020937.2:c.4410G>A(p.=) NM_020937.2 synonymous_variant NM_020937.2:c.4410G>A NP_065988.1:p.Glu1470%3D FANCM FLCN 17 17127287 C/T 0 NM_144997.5 synonymous_variant NM_144997.5:c.567G>A NM_144997.5:c.567G>A(p.=) NM_144997.5 synonymous_variant NM_144997.5:c.567G>A NP_659434.2:p.Leu189%3D FLCN BLM 15 91354439 A/G 0.1 NM_000057.2 synonymous_variant NM_000057.2:c.3879A>G NM_000057.2:c.3879A>G(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.3879A>G NP_000048.1:p.Glu1293%3D BLM SLX4 16 3639790 G/C 0.04 NM_032444.2 synonymous_variant NM_032444.2:c.3849C>G NM_032444.2:c.3849C>G(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3849C>G NP_115820.2:p.Ala1283%3D SLX4 TSC2 16 2111895 G/A 0 NM_000548.3 synonymous_variant NM_000548.3:c.1143G>A NM_000548.3:c.1143G>A(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.1143G>A NP_000539.2:p.Arg381%3D TSC2 CHEK2 22 29130521 T/C 0 NM_001005735.1 synonymous_variant NM_001005735.1:c.189A>G NM_001005735.1:c.189A>G(p.=) NM_007194.3 synonymous_variant NM_007194.3:c.189A>G NP_009125.1:p.Leu63%3D CHEK2 ATM,C11ORF65 11 108216583 T/C 0 NM_000051.3 synonymous_variant NM_000051.3:c.8532T>C NM_000051.3:c.8532T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.8532T>C NP_000042.3:p.Ile2844%3D ATM BIVM-ERCC5,ERCC5 13 103504619 T/G 0 NM_001204425.1 synonymous_variant NM_001204425.1:c.1602T>G NM_001204425.1:c.1602T>G(p.=) NM_000123.3 synonymous_variant NM_000123.3:c.240T>G NP_000114.2:p.Ala80%3D ERCC5 SLX4 16 3639727 G/A 0.02 NM_032444.2 synonymous_variant NM_032444.2:c.3912C>T NM_032444.2:c.3912C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.3912C>T NP_115820.2:p.Val1304%3D SLX4 AIP 11 67256743 G/A 0 NM_003977.2 synonymous_variant NM_003977.2:c.285G>A NM_003977.2:c.285G>A(p.=) NM_003977.2 synonymous_variant NM_003977.2:c.285G>A NP_003968.2:p.Val95%3D AIP MSH2 2 47702381 A/G 0 NM_000251.2 synonymous_variant NM_000251.2:c.1977A>G NM_000251.2:c.1977A>G(p.=) NM_000251.2 synonymous_variant NM_000251.2:c.1977A>G NP_000242.1:p.Lys659%3D MSH2 XPC 3 14207026 T/C 0 NM_004628.4 synonymous_variant NM_004628.4:c.681A>G NM_004628.4:c.681A>G(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.681A>G NP_004619.3:p.Pro227%3D XPC APC 5 112179610 T/G 0 NM_000038.5 synonymous_variant NM_000038.5:c.8319T>G NM_000038.5:c.8319T>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.8319T>G NP_000029.2:p.Pro2773%3D APC FANCI 15 89843040 A/G 0 NM_001113378.1 synonymous_variant NM_001113378.1:c.2646A>G NM_001113378.1:c.2646A>G(p.=) NM_001113378.1 synonymous_variant NM_001113378.1:c.2646A>G NP_001106849.1:p.Leu882%3D FANCI CEBPA 19 33792748 G/A 1.66 NM_004364.3 synonymous_variant NM_004364.3:c.573C>T NM_004364.3:c.573C>T(p.=) NM_004364.3 synonymous_variant NM_004364.3:c.573C>T NP_004355.2:p.His191%3D CEBPA SBDS 7 66460339 A/G 0 NM_016038.2 synonymous_variant NM_016038.2:c.66T>C NM_016038.2:c.66T>C(p.=) NM_016038.2 synonymous_variant NM_016038.2:c.66T>C NP_057122.2:p.Arg22%3D SBDS NF1 17 29586094 A/G 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.4377A>G NM_001042492.2:c.4377A>G(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.4314A>G NP_000258.1:p.Glu1438%3D NF1 SLX4 16 3650991 C/C 5.47 NM_032444.2 synonymous_variant NM_032444.2:c.1152A>G NM_032444.2:c.1152A>G(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1152A>G NP_115820.2:p.Pro384%3D SLX4 SLX4 16 3656680 A/A 4.19 NM_032444.2 synonymous_variant NM_032444.2:c.555C>T NM_032444.2:c.555C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.555C>T NP_115820.2:p.Asp185%3D SLX4 CYLD 16 50785643 A/G 0 NM_015247.2 synonymous_variant NM_015247.2:c.633A>G NM_015247.2:c.633A>G(p.=) NM_001042412.1 synonymous_variant NM_001042412.1:c.633A>G NP_001035877.1:p.Ala211%3D CYLD PTCH1 9 98209422 C/T 0 NM_000264.3 synonymous_variant NM_000264.3:c.4116G>A NM_000264.3:c.4116G>A(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.4116G>A NP_000255.2:p.Thr1372%3D PTCH1 BLM 15 91358494 A/G 0 NM_000057.2 synonymous_variant NM_000057.2:c.4239A>G NM_000057.2:c.4239A>G(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.4239A>G NP_000048.1:p.Ser1413%3D BLM BRCA1 17 41244734 T/C 0.22 NM_007300.3 synonymous_variant NM_007300.3:c.2814A>G NM_007300.3:c.2814A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2814A>G NP_009225.1:p.Pro938%3D BRCA1 EXT1 8 118825156 G/A 0 NM_000127.2 synonymous_variant NM_000127.2:c.1677C>T NM_000127.2:c.1677C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.1677C>T NP_000118.2:p.Asp559%3D EXT1 BLM 15 91303411 T/C 1.06 NM_000057.2 synonymous_variant NM_000057.2:c.1122T>C NM_000057.2:c.1122T>C(p.=) NM_000057.2 synonymous_variant NM_000057.2:c.1122T>C NP_000048.1:p.His374%3D BLM EGFR 7 55259429 G/A 0.36 NM_005228.3 synonymous_variant NM_005228.3:c.2487G>A NM_005228.3:c.2487G>A(p.=) NM_005228.3 synonymous_variant NM_005228.3:c.2487G>A NP_005219.2:p.Glu829%3D EGFR EPCAM 2 47600684 A/C 0.36 NM_002354.2 synonymous_variant NM_002354.2:c.159A>C NM_002354.2:c.159A>C(p.=) NM_002354.2 synonymous_variant NM_002354.2:c.159A>C NP_002345.2:p.Ala53%3D EPCAM BRCA2 13 32906977 A/G 0.14 NM_000059.3 synonymous_variant NM_000059.3:c.1362A>G NM_000059.3:c.1362A>G(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.1362A>G NP_000050.2:p.Lys454%3D BRCA2 DICER1 14 95562577 C/T 3.37 NM_177438.2 synonymous_variant NM_177438.2:c.4680G>A NM_177438.2:c.4680G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.4680G>A NP_803187.1:p.Ala1560%3D DICER1 DICER1 14 95572075 C/T 3.49 NM_177438.2 synonymous_variant NM_177438.2:c.3033G>A NM_177438.2:c.3033G>A(p.=) NM_177438.2 synonymous_variant NM_177438.2:c.3033G>A NP_803187.1:p.Ala1011%3D DICER1 XPC 3 14200368 A/G 0 NM_004628.4 synonymous_variant NM_004628.4:c.1015T>C NM_004628.4:c.1015T>C(p.=) NM_004628.4 synonymous_variant NM_004628.4:c.1015T>C NP_004619.3:p.Leu339%3D XPC PALB2 16 23646397 G/A 0.02 NM_024675.3 synonymous_variant NM_024675.3:c.1470C>T NM_024675.3:c.1470C>T(p.=) NM_024675.3 synonymous_variant NM_024675.3:c.1470C>T NP_078951.2:p.Pro490%3D PALB2 SLX4 16 3647862 C/T 0 NM_032444.2 synonymous_variant NM_032444.2:c.1302G>A NM_032444.2:c.1302G>A(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.1302G>A NP_115820.2:p.Pro434%3D SLX4 TSC1 9 135782719 T/C 0 NM_000368.4 synonymous_variant NM_000368.4:c.1302A>G NM_000368.4:c.1302A>G(p.=) NM_000368.4 synonymous_variant NM_000368.4:c.1302A>G NP_000359.1:p.Arg434%3D TSC1 PMS2 7 6026839 A/G 0.98 NM_000535.5 synonymous_variant NM_000535.5:c.1557T>C NM_000535.5:c.1557T>C(p.=) NM_000535.5 synonymous_variant NM_000535.5:c.1557T>C NP_000526.1:p.Tyr519%3D PMS2 FH 1 241672023 T/C 0 NM_000143.3 synonymous_variant NM_000143.3:c.618A>G NM_000143.3:c.618A>G(p.=) NM_000143.3 synonymous_variant NM_000143.3:c.618A>G NP_000134.2:p.Val206%3D FH NF1 17 29653051 C/T 0 NM_001042492.2 synonymous_variant NM_001042492.2:c.5049C>T NM_001042492.2:c.5049C>T(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.4986C>T NP_000258.1:p.Asn1662%3D NF1 KIT 4 55602912 G/A 0.16 NM_000222.2 synonymous_variant NM_000222.2:c.2622G>A NM_000222.2:c.2622G>A(p.=) NM_000222.2 synonymous_variant NM_000222.2:c.2622G>A NP_000213.1:p.Pro874%3D KIT ERCC2 19 45868390 G/A 0.16 NM_000400.3 synonymous_variant NM_000400.3:c.387C>T NM_000400.3:c.387C>T(p.=) NM_000400.3 synonymous_variant NM_000400.3:c.387C>T NP_000391.1:p.Asp129%3D ERCC2 TSC2 16 2132492 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.3870C>T NM_000548.3:c.3870C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.3870C>T NP_000539.2:p.Ser1290%3D TSC2 RHBDF2 17 74473856 C/T 0 NM_024599.5 synonymous_variant NM_024599.5:c.771G>A NM_024599.5:c.771G>A(p.=) NM_001005498.3 synonymous_variant NM_001005498.3:c.684G>A NP_001005498.2:p.Val228%3D RHBDF2 SDHC 1 161310402 G/A 0 NM_003001.3 synonymous_variant NM_003001.3:c.198G>A NM_003001.3:c.198G>A(p.=) NM_003001.3 synonymous_variant NM_003001.3:c.198G>A NP_002992.1:p.Ala66%3D SDHC TSC2 16 2129105 T/C 0 NM_000548.3 synonymous_variant NM_000548.3:c.3039T>C NM_000548.3:c.3039T>C(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.3039T>C NP_000539.2:p.Asp1013%3D TSC2 ERCC4 16 14028125 A/G 0 NM_005236.2 synonymous_variant NM_005236.2:c.1179A>G NM_005236.2:c.1179A>G(p.=) NM_005236.2 synonymous_variant NM_005236.2:c.1179A>G NP_005227.1:p.Ala393%3D ERCC4 PTCH1 9 98209698 C/T 0 NM_000264.3 synonymous_variant NM_000264.3:c.3840G>A NM_000264.3:c.3840G>A(p.=) NM_000264.3 synonymous_variant NM_000264.3:c.3840G>A NP_000255.2:p.Ser1280%3D PTCH1 EZH2 7 148524267 T/C 0 NM_004456.4 synonymous_variant NM_004456.4:c.717A>G NM_004456.4:c.717A>G(p.=) NM_004456.4 synonymous_variant NM_004456.4:c.717A>G NP_004447.2:p.Glu239%3D EZH2 ERCC2 19 45864831 C/T 0 NM_000400.3 synonymous_variant NM_000400.3:c.1188G>A NM_000400.3:c.1188G>A(p.=) NM_000400.3 synonymous_variant NM_000400.3:c.1188G>A NP_000391.1:p.Pro396%3D ERCC2 FANCE 6 35434083 A/A 0.2 NM_021922.2 synonymous_variant NM_021922.2:c.1572G>A NM_021922.2:c.1572G>A(p.=) NM_021922.2 synonymous_variant NM_021922.2:c.1572G>A NP_068741.1:p.Arg524%3D FANCE TSC2 16 2134441 C/T 0 NM_000548.3 synonymous_variant NM_000548.3:c.4218C>T NM_000548.3:c.4218C>T(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.4218C>T NP_000539.2:p.Asp1406%3D TSC2 DIS3L2 2 232894712 T/C 0 NM_152383.4 synonymous_variant NM_152383.4:c.288T>C NM_152383.4:c.288T>C(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.288T>C NP_689596.4:p.Ile96%3D DIS3L2 TSC2 16 2104368 T/G 0 NM_000548.3 synonymous_variant NM_000548.3:c.408T>G NM_000548.3:c.408T>G(p.=) NM_000548.3 synonymous_variant NM_000548.3:c.408T>G NP_000539.2:p.Leu136%3D TSC2 VHL 3 10188232 C/T 0 NM_000551.3 synonymous_variant NM_000551.3:c.375C>T NM_000551.3:c.375C>T(p.=) NM_000551.3 synonymous_variant NM_000551.3:c.375C>T NP_000542.1:p.His125%3D VHL EPCAM 2 47604162 G/A 0 NM_002354.2 synonymous_variant NM_002354.2:c.501G>A NM_002354.2:c.501G>A(p.=) NM_002354.2 synonymous_variant NM_002354.2:c.501G>A NP_002345.2:p.Gln167%3D EPCAM VHL 3 10188202 C/T 0 NM_000551.3 synonymous_variant NM_000551.3:c.345C>T NM_000551.3:c.345C>T(p.=) NM_000551.3 synonymous_variant NM_000551.3:c.345C>T NP_000542.1:p.His115%3D VHL APC 5 112179220 A/G 0 NM_000038.5 synonymous_variant NM_000038.5:c.7929A>G NM_000038.5:c.7929A>G(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.7929A>G NP_000029.2:p.Leu2643%3D APC ALK 2 29416678 C/T 0 NM_004304.4 synonymous_variant NM_004304.4:c.4275G>A NM_004304.4:c.4275G>A(p.=) NM_004304.4 synonymous_variant NM_004304.4:c.4275G>A NP_004295.2:p.Leu1425%3D ALK DIS3L2 2 233128090 C/T 0 NM_152383.4 synonymous_variant NM_152383.4:c.1599C>T NM_152383.4:c.1599C>T(p.=) NM_152383.4 synonymous_variant NM_152383.4:c.1599C>T NP_689596.4:p.His533%3D DIS3L2 MET 7 116340098 G/A 0.02 NM_001127500.1 synonymous_variant NM_001127500.1:c.960G>A NM_001127500.1:c.960G>A(p.=) NM_000245.2 synonymous_variant NM_000245.2:c.960G>A NP_000236.2:p.Ala320%3D MET BRCA1 17 41244686 T/C 0.02 NM_007300.3 synonymous_variant NM_007300.3:c.2862A>G NM_007300.3:c.2862A>G(p.=) NM_007294.3 synonymous_variant NM_007294.3:c.2862A>G NP_009225.1:p.Leu954%3D BRCA1 RECQL4 8 145742488 G/A 0.72 NM_004260.3 synonymous_variant NM_004260.3:c.300C>T NM_004260.3:c.300C>T(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.300C>T NP_004251.3:p.Gly100%3D RECQL4 ATM 11 108172468 A/G 0 NM_000051.3 synonymous_variant NM_000051.3:c.5271A>G NM_000051.3:c.5271A>G(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.5271A>G NP_000042.3:p.Thr1757%3D ATM GPC3 X 132730541 A/G 6.54 NM_001164617.1 synonymous_variant NM_001164617.1:c.1569T>C NM_001164617.1:c.1569T>C(p.=) NM_004484.3 synonymous_variant NM_004484.3:c.1500T>C NP_004475.1:p.Asp500%3D GPC3 PMS1 2 190728586 C/T 0 NM_000534.4 synonymous_variant NM_000534.4:c.1974C>T NM_000534.4:c.1974C>T(p.=) NM_000534.4 synonymous_variant NM_000534.4:c.1974C>T NP_000525.1:p.Ser658%3D PMS1 RECQL4 8 145742533 A/C 0 NM_004260.3 synonymous_variant NM_004260.3:c.255T>G NM_004260.3:c.255T>G(p.=) NM_004260.3 synonymous_variant NM_004260.3:c.255T>G NP_004251.3:p.Ala85%3D RECQL4 EXT1 8 118812014 G/A 0.04 NM_000127.2 synonymous_variant NM_000127.2:c.2178C>T NM_000127.2:c.2178C>T(p.=) NM_000127.2 synonymous_variant NM_000127.2:c.2178C>T NP_000118.2:p.Pro726%3D EXT1 SLX4 16 3632589 G/A 0.36 NM_032444.2 synonymous_variant NM_032444.2:c.5259C>T NM_032444.2:c.5259C>T(p.=) NM_032444.2 synonymous_variant NM_032444.2:c.5259C>T NP_115820.2:p.Asp1753%3D SLX4 APC 5 112175077 T/C 0 NM_000038.5 synonymous_variant NM_000038.5:c.3786T>C NM_000038.5:c.3786T>C(p.=) NM_000038.5 synonymous_variant NM_000038.5:c.3786T>C NP_000029.2:p.Tyr1262%3D APC FH 1 241667523 T/T 3.75 NM_000143.3 synonymous_variant NM_000143.3:c.927G>A NM_000143.3:c.927G>A(p.=) NM_000143.3 synonymous_variant NM_000143.3:c.927G>A NP_000134.2:p.Pro309%3D FH NF1 17 29652884 T/C 2.14 NM_001042492.2 synonymous_variant NM_001042492.2:c.4882T>C NM_001042492.2:c.4882T>C(p.=) NM_000267.3 synonymous_variant NM_000267.3:c.4819T>C NP_000258.1:p.Leu1607%3D NF1 ATM 11 108121464 T/C 0 NM_000051.3 synonymous_variant NM_000051.3:c.1272T>C NM_000051.3:c.1272T>C(p.=) NM_000051.3 synonymous_variant NM_000051.3:c.1272T>C NP_000042.3:p.Pro424%3D ATM NSD1 5 176631137 C/T 0 NM_022455.4 synonymous_variant NM_022455.4:c.1080C>T NM_022455.4:c.1080C>T(p.=) NM_022455.4 synonymous_variant NM_022455.4:c.1080C>T NP_071900.2:p.Pro360%3D NSD1 BRCA2 13 32910982 C/T 0 NM_000059.3 synonymous_variant NM_000059.3:c.2490C>T NM_000059.3:c.2490C>T(p.=) NM_000059.3 synonymous_variant NM_000059.3:c.2490C>T NP_000050.2:p.Asn830%3D BRCA2 CEBPA 19 33793180 G/C 0 NM_004364.3 synonymous_variant NM_004364.3:c.141C>G NM_004364.3:c.141C>G(p.=) NM_004364.3 synonymous_variant NM_004364.3:c.141C>G NP_004355.2:p.Ala47%3D CEBPA FANCD2,FANCD2OS 3 10123089 C/T 0 NM_033084.3 synonymous_variant NM_033084.3:c.3165C>T NM_033084.3:c.3165C>T(p.=) NM_033084.3 synonymous_variant NM_033084.3:c.3165C>T NP_149075.2:p.Tyr1055%3D FANCD2 WT1 11 32456841 C/A 0 NM_024426.4 synonymous_variant NM_024426.4:c.51G>T NM_024426.4:c.51G>T(p.=) NM_024426.4 synonymous_variant NM_024426.4:c.51G>T NP_077744.3:p.Thr17%3D WT1 STK11 19 1221302 G/A 0 NM_000455.4 synonymous_variant NM_000455.4:c.825G>A NM_000455.4:c.825G>A(p.=) NM_000455.4 synonymous_variant NM_000455.4:c.825G>A NP_000446.1:p.Pro275%3D STK11 DDB2 11 47254479 C/T 0 NM_000107.2 synonymous_variant NM_000107.2:c.571C>T NM_000107.2:c.571C>T(p.=) NM_000107.2 synonymous_variant NM_000107.2:c.571C>T NP_000098.1:p.Leu191%3D DDB2 FANCM 14 45606387 A/G 0.54 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.624A>G NP_065988.1:p.Ile208Met FANCM N/A 16 14013993 T/A 22.04 NM_005236.2 upstream_gene_variant NA NA NM_005236.2 upstream_gene_variant NA NA ERCC4 MEN1 11 64572602 A/A 30.79 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1254C>T NP_570711.1:p.Asp418%3D MEN1 FANCG 9 35074917 T/C 22.02 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 splice_region_variant&intron_variant NM_004629.1:c.1636+7A>G NA FANCG SUFU 10 104264107 C/T 39.62 NM_005736.3 upstream_gene_variant NA NA NM_016169.3 intron_variant NM_016169.3:c.182+16C>T NA SUFU FANCG 9 35077441 C/C 29.85 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.511-45A>G NA FANCG MEN1 11 64572018 C/C 16.55 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 missense_variant NM_130799.2:c.1621A>G NP_570711.1:p.Thr541Ala MEN1 MEN1 11 64572557 G/G 2.4 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1299T>C NP_570711.1:p.His433%3D MEN1 BRCA2 13 32890572 G/A 20.93 NM_001136571.1 upstream_gene_variant NA NA NM_000059.3 5_prime_UTR_variant NM_000059.3:c.-26G>A NA BRCA2 FANCG 9 35077441 T/C 29.85 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.511-45A>G NA FANCG MEN1 11 64575505 C/T 0.62 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 missense_variant NM_130799.2:c.512G>A NP_570711.1:p.Arg171Gln MEN1 PMS2 7 6013049 C/G 0 NM_173565.3 upstream_gene_variant NA NA NM_000535.5 missense_variant NM_000535.5:c.2570G>C NP_000526.1:p.Gly857Ala PMS2 RAD51C 17 56769979 C/T 15.83 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 5_prime_UTR_variant NM_058216.2:c.-26C>T NA RAD51C MEN1 11 64572602 G/A 30.79 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1254C>T NP_570711.1:p.Asp418%3D MEN1 FANCM 14 45605469 G/C 0 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.235G>C NP_065988.1:p.Ala79Pro FANCM CEP57 11 95523956 CTT/C 0 NM_144664.4 upstream_gene_variant NA NA NM_014679.4 intron_variant NM_014679.4:c.45+51_45+52delTT NA CEP57 BRCA2 13 32890572 A/A 20.93 NM_001136571.1 upstream_gene_variant NA NA NM_000059.3 5_prime_UTR_variant NM_000059.3:c.-26G>A NA BRCA2 SUFU 10 104264107 T/T 39.62 NM_005736.3 upstream_gene_variant NA NA NM_016169.3 intron_variant NM_016169.3:c.182+16C>T NA SUFU FANCG 9 35074917 C/C 22.02 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 splice_region_variant&intron_variant NM_004629.1:c.1636+7A>G NA FANCG FANCM 14 45606287 C/T 20.59 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.524C>T NP_065988.1:p.Ser175Phe FANCM SLX4 16 3632335 T/C 7.25 NM_178844.2 upstream_gene_variant NA NA NM_032444.2 3_prime_UTR_variant NM_032444.2:c.*8A>G NA SLX4 SLX4 16 3632347 T/C 0.2 NM_178844.2 upstream_gene_variant NA NA NM_032444.2 missense_variant NM_032444.2:c.5501A>G NP_115820.2:p.Asn1834Ser SLX4 RAD51C 17 56774080 T/C 0 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 missense_variant NM_058216.2:c.431T>C NP_478123.1:p.Ile144Thr RAD51C SDHC 1 161284224 AGT/AGT 0 NM_000530.6 upstream_gene_variant NA NA NM_003001.3 intron_variant NM_003001.3:c.20+11_20+12dupTG NA SDHC RAD51C 17 56769979 T/T 15.83 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 5_prime_UTR_variant NM_058216.2:c.-26C>T NA RAD51C CEP57 11 95523830 C/A 0.02 NM_144664.4 upstream_gene_variant NA NA NM_014679.4 5_prime_UTR_variant NM_014679.4:c.-33C>A NA CEP57 SDHC 1 161284224 A/AGT 0 NM_000530.6 upstream_gene_variant NA NA NM_003001.3 intron_variant NM_003001.3:c.20+11_20+12dupTG NA SDHC RAD51C 17 56772522 G/A 0.2 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 missense_variant NM_058216.2:c.376G>A NP_478123.1:p.Ala126Thr RAD51C CEP57 11 95523835 T/C 1.64 NM_144664.4 upstream_gene_variant NA NA NM_014679.4 5_prime_UTR_variant NM_014679.4:c.-28T>C NA CEP57 MEN1 11 64575491 C/A 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 missense_variant NM_130799.2:c.526G>T NP_570711.1:p.Ala176Ser MEN1 PMS2 7 6013049 G/G 0 NM_173565.3 upstream_gene_variant NA NA NM_000535.5 missense_variant NM_000535.5:c.2570G>C NP_000526.1:p.Gly857Ala PMS2 TSC2 16 2098767 C/T 0 NM_002528.5 upstream_gene_variant NA NA NM_000548.3 intron_variant NM_000548.3:c.138+13C>T NA TSC2 FANCG 9 35075022 C/T 0.3 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.1538G>A NP_004620.1:p.Arg513Gln FANCG RAD51C 17 56770084 T/C 0 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 missense_variant NM_058216.2:c.80T>C NP_478123.1:p.Leu27Pro RAD51C N/A 16 14013993 A/A 22.04 NM_005236.2 upstream_gene_variant NA NA NM_005236.2 upstream_gene_variant NA NA ERCC4 FANCM 14 45606287 T/T 20.59 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.524C>T NP_065988.1:p.Ser175Phe FANCM SDHC 1 161284164 T/C 1.82 NM_000530.6 upstream_gene_variant NA NA NM_003001.3 upstream_gene_variant NA NA SDHC SLX4 16 3632298 T/G 0 NM_178844.2 upstream_gene_variant NA NA NM_032444.2 3_prime_UTR_variant NM_032444.2:c.*45A>C NA SLX4 SLX4 16 3632335 C/C 7.25 NM_178844.2 upstream_gene_variant NA NA NM_032444.2 3_prime_UTR_variant NM_032444.2:c.*8A>G NA SLX4 MEN1 11 64572560 C/T 0.08 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1296G>A NP_570711.1:p.Leu432%3D MEN1 MEN1 11 64572018 T/C 16.55 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 missense_variant NM_130799.2:c.1621A>G NP_570711.1:p.Thr541Ala MEN1 PTEN 10 89624340 C/T 0.1 NM_001126049.1 upstream_gene_variant NA NA NM_000314.4 intron_variant NM_000314.4:c.79+35C>T NA PTEN MEN1 11 64572626 G/A 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1230C>T NP_570711.1:p.Phe410%3D MEN1 FANCG 9 35075969 G/A 3.59 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.1133C>T NP_004620.1:p.Ser378Leu FANCG FANCG 9 35076826 C/T 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 synonymous_variant NM_004629.1:c.819G>A NP_004620.1:p.Leu273%3D FANCG FANCG 9 35075068 T/G 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.1492A>C NP_004620.1:p.Asn498His FANCG FANCG 9 35075528 T/A 0.04 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.1367A>T NP_004620.1:p.His456Leu FANCG MLH1 3 37038205 G/A 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.207+5G>A NA MLH1 FANCG 9 35076630 T/G 0.04 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.925-50A>C NA FANCG FANCD2 3 10070369 T/C 0 NR_002786.1 upstream_gene_variant NA NA NM_033084.3 missense_variant NM_033084.3:c.28T>C NP_149075.2:p.Ser10Pro FANCD2 FANCM 14 45605463 A/G 1.62 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.229A>G NP_065988.1:p.Thr77Ala FANCM NF1 17 29422306 G/C 0.08 NR_039886.1 upstream_gene_variant NA NA NM_000267.3 5_prime_UTR_variant NM_000267.3:c.-22G>C NA NF1 SLX4 16 3632314 C/A 0 NM_178844.2 upstream_gene_variant NA NA NM_032444.2 3_prime_UTR_variant NM_032444.2:c.*29G>T NA SLX4 NF1 17 29422306 C/C 0.08 NR_039886.1 upstream_gene_variant NA NA NM_000267.3 5_prime_UTR_variant NM_000267.3:c.-22G>C NA NF1 FANCG 9 35074213 C/A 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant&splice_region_variant NM_004629.1:c.1761G>T NP_004620.1:p.Trp587Cys FANCG FANCG 9 35074241 G/T 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.1761-28C>A NA FANCG FANCM 14 45606290 C/T 0.14 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.527C>T NP_065988.1:p.Thr176Ile FANCM FANCG 9 35074518 T/C 0.06 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.1637-27A>G NA FANCG RAD51C 17 56772591 CAT/C 0 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 intron_variant NM_058216.2:c.404+44_404+45delAT NA RAD51C MLH1 3 37035011 A/G 0.08 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 5_prime_UTR_variant NM_000249.3:c.-28A>G NA MLH1 MLH1 3 37035032 C/T 0.04 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 5_prime_UTR_variant NM_000249.3:c.-7C>T NA MLH1 PMS2 7 6013153 A/G 6.27 NM_173565.3 upstream_gene_variant NA NA NM_000535.5 synonymous_variant NM_000535.5:c.2466T>C NP_000526.1:p.Leu822%3D PMS2 RB1 13 48881581 T/G 0 NR_046414.1 upstream_gene_variant NA NA NM_000321.2 intron_variant NM_000321.2:c.264+39T>G NA RB1 FANCG 9 35076755 G/A 4.95 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.890C>T NP_004620.1:p.Thr297Ile FANCG FANCG 9 35076550 G/T 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.955C>A NP_004620.1:p.Pro319Thr FANCG FANCM 14 45606310 A/C 0 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.547A>C NP_065988.1:p.Ser183Arg FANCM FANCD2 3 10070336 G/C 1.42 NR_002786.1 upstream_gene_variant NA NA NM_033084.3 5_prime_UTR_variant NM_033084.3:c.-6G>C NA FANCD2 FANCG 9 35075062 C/T 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.1498G>A NP_004620.1:p.Glu500Lys FANCG RAD51C 17 56774172 G/A 0 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 missense_variant NM_058216.2:c.523G>A NP_478123.1:p.Ala175Thr RAD51C FANCG 9 35076393 G/A 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.1076+36C>T NA FANCG MEN1 11 64575501 A/G 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.516T>C NP_570711.1:p.Asp172%3D MEN1 TSC2 16 2100512 A/G 0 NM_002528.5 upstream_gene_variant NA NA NM_000548.3 intron_variant NM_000548.3:c.225+25A>G NA TSC2 SDHC 1 161284182 G/C 0 NM_000530.6 upstream_gene_variant NA NA NM_003001.3 5_prime_UTR_variant NM_003001.3:c.-14G>C NA SDHC SUFU 10 104263948 CGCGCCCCCGGCCCCTGGCCCGACT/C 0 NM_005736.3 upstream_gene_variant NA NA NM_016169.3 inframe_deletion NM_016169.3:c.42_65delGCCCCCGGCCCCTGGCCCGACTGC NP_057253.2:p.Pro18_Ala25del SUFU MEN1 11 64573721 C/T 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1032G>A NP_570711.1:p.Thr344%3D MEN1 TSC2 16 2098654 AGAAGTTTAAGATTCTGTTGGGACTGG/A 0 NM_002528.5 upstream_gene_variant NA NA NM_000548.3 frameshift_variant NM_000548.3:c.42_67delGTTTAAGATTCTGTTGGGACTGGGAA NP_000539.2:p.Lys14AsnfsTer12 TSC2 FANCG 9 35077249 T/C 0.14 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.646+12A>G NA FANCG FANCG 9 35076906 C/G 2.31 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.778-39G>C NA FANCG FANCG 9 35076923 C/T 2.31 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.777+45G>A NA FANCG RAD51C 17 56770198 C/T 0 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 intron_variant NM_058216.2:c.145+49C>T NA RAD51C FANCG 9 35074160 C/T 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 missense_variant NM_004629.1:c.1814G>A NP_004620.1:p.Arg605His FANCG RAD51C 17 56772344 A/G 0 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 synonymous_variant NM_058216.2:c.198A>G NP_478123.1:p.Arg66%3D RAD51C MEN1 11 64573212 G/A 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1080C>T NP_570711.1:p.Ile360%3D MEN1 SUFU 10 104263946 A/C 0 NM_005736.3 upstream_gene_variant NA NA NM_016169.3 missense_variant NM_016169.3:c.37A>C NP_057253.2:p.Thr13Pro SUFU MLH1 3 37038235 C/T 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 intron_variant NM_000249.3:c.207+35C>T NA MLH1 PTEN 10 89624218 C/G 1.1 NM_001126049.1 upstream_gene_variant NA NA NM_000314.4 5_prime_UTR_variant NM_000314.4:c.-9C>G NA PTEN FANCM 14 45605205 T/C 0 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 5_prime_UTR_variant NM_020937.2:c.-30T>C NA FANCM CDKN2A 9 21994101 C/G 0.2 NR_003529.3 upstream_gene_variant NA NA NM_058195.3 intron_variant NM_058195.3:c.193+37G>C NA CDKN2A FANCM 14 45605405 G/C 0.04 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.171G>C NP_065988.1:p.Leu57Phe FANCM FANCM 14 45605397 G/A 0 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.163G>A NP_065988.1:p.Asp55Asn FANCM TSC2 16 2100485 G/A 0 NM_002528.5 upstream_gene_variant NA NA NM_000548.3 missense_variant&splice_region_variant NM_000548.3:c.223G>A NP_000539.2:p.Glu75Lys TSC2 PMS2 7 6013060 C/C 0 NM_173565.3 upstream_gene_variant NA NA NM_000535.5 missense_variant NM_000535.5:c.2559C>G NP_000526.1:p.Ile853Met PMS2 MLH1 3 37035105 G/T 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 stop_gained NM_000249.3:c.67G>T NP_000240.1:p.Glu23Ter MLH1 MEN1 11 64574727 C/T 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 intron_variant NM_130799.2:c.784-36G>A NA MEN1 MLH1 3 37038241 A/G 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 intron_variant NM_000249.3:c.207+41A>G NA MLH1 SDHAF2 11 61197596 G/A 0 NM_024811.3 upstream_gene_variant NA NA NM_017841.2 upstream_gene_variant NA NA SDHAF2 MLH1 3 37035163 G/A 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 intron_variant NM_000249.3:c.116+9G>A NA MLH1 RB1 13 48878154 G/C 0 NR_046414.1 upstream_gene_variant NA NA NM_000321.2 missense_variant NM_000321.2:c.106G>C NP_000312.2:p.Asp36His RB1 MLH1 3 37035068 GC/G 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 frameshift_variant NM_000249.3:c.31delC NP_000240.1:p.Leu11TrpfsTer6 MLH1 SLX4 16 3632342 A/G 0.08 NM_178844.2 upstream_gene_variant NA NA NM_032444.2 3_prime_UTR_variant NM_032444.2:c.*1T>C NA SLX4 FANCG 9 35076690 C/T 0.06 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.924+31G>A NA FANCG MLH1 3 37035168 C/G 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 intron_variant NM_000249.3:c.116+14C>G NA MLH1 MLH1 3 37035159 G/C 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 splice_region_variant&intron_variant NM_000249.3:c.116+5G>C NA MLH1 MEN1 11 64575419 C/T 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 missense_variant NM_130799.2:c.598G>A NP_570711.1:p.Gly200Ser MEN1 SDHC 1 161284221 T/G 0 NM_000530.6 upstream_gene_variant NA NA NM_003001.3 splice_region_variant&intron_variant NM_003001.3:c.20+6T>G NA SDHC FANCD2 3 10070456 A/G 0 NR_002786.1 upstream_gene_variant NA NA NM_033084.3 intron_variant NM_033084.3:c.64+51A>G NA FANCD2 MEN1 11 64575155 TA/T 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 splice_region_variant&intron_variant NM_130799.2:c.655-4delT NA MEN1 RAD51C 17 56772481 G/C 0 NM_001201457.1 upstream_gene_variant NA NA NM_058216.2 missense_variant NM_058216.2:c.335G>C NP_478123.1:p.Gly112Ala RAD51C RB1 13 48878107 C/T 0 NR_046414.1 upstream_gene_variant NA NA NM_000321.2 missense_variant NM_000321.2:c.59C>T NP_000312.2:p.Pro20Leu RB1 SDHAF2 11 61197680 C/T 0.02 NM_024811.3 upstream_gene_variant NA NA NM_017841.2 intron_variant NM_017841.2:c.36+26C>T NA SDHAF2 MEN1 11 64572211 C/G 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.1428G>C NP_570711.1:p.Arg476%3D MEN1 MEN1 11 64575045 C/T 0.02 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.762G>A NP_570711.1:p.Leu254%3D MEN1 SUFU 10 104263935 C/T 0 NM_005736.3 upstream_gene_variant NA NA NM_016169.3 missense_variant NM_016169.3:c.26C>T NP_057253.2:p.Ala9Val SUFU MEN1 11 64574701 G/A 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 intron_variant NM_130799.2:c.784-10C>T NA MEN1 FANCM 14 45605503 C/T 0 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.269C>T NP_065988.1:p.Pro90Leu FANCM FANCM 14 45605287 G/A 0.02 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.53G>A NP_065988.1:p.Arg18Gln FANCM FANCG 9 35075102 A/G 0 NM_007126.3 upstream_gene_variant NA NA NM_004629.1 intron_variant NM_004629.1:c.1481-23T>C NA FANCG RB1 13 48881564 T/G 0 NR_046414.1 upstream_gene_variant NA NA NM_000321.2 intron_variant NM_000321.2:c.264+22T>G NA RB1 SDHAF2 11 61197671 T/C 0.58 NM_024811.3 upstream_gene_variant NA NA NM_017841.2 intron_variant NM_017841.2:c.36+17T>C NA SDHAF2 RB1 13 48878215 G/A 0 NR_046414.1 upstream_gene_variant NA NA NM_000321.2 intron_variant NM_000321.2:c.137+30G>A NA RB1 FANCM 14 45606400 A/G 0 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.637A>G NP_065988.1:p.Ile213Val FANCM FANCM 14 45605580 G/C 0 NM_002013.3 upstream_gene_variant NA NA NM_020937.2 missense_variant NM_020937.2:c.346G>C NP_065988.1:p.Gly116Arg FANCM MEN1 11 64574683 G/A 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 synonymous_variant NM_130799.2:c.792C>T NP_570711.1:p.Leu264%3D MEN1 RB1 13 48878090 C/T 0.06 NR_046414.1 upstream_gene_variant NA NA NM_000321.2 synonymous_variant NM_000321.2:c.42C>T NP_000312.2:p.Ala14%3D RB1 MLH1 3 37035031 G/T 0 NM_014805.3 upstream_gene_variant NA NA NM_000249.3 5_prime_UTR_variant NM_000249.3:c.-8G>T NA MLH1 MEN1 11 64575067 A/G 0 NM_004579.3 upstream_gene_variant NA NA NM_130799.2 missense_variant NM_130799.2:c.740T>C NP_570711.1:p.Ile247Thr MEN1 SUFU 10 104264141 A/G 0 NM_005736.3 upstream_gene_variant NA NA NM_016169.3 intron_variant NM_016169.3:c.182+50A>G NA SUFU