Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ARID1A gene ARID1A Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000117713 ENSG00000117713 HGNC:11110 ATM gene ATM Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000149311 ENSG00000149311 HGNC:795 ATR gene ATR Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 16912188 False 3 0;0;0 0.45 False ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000085224 ENSG00000085224 HGNC:886 BAP1 gene BAP1 Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000163930 ENSG00000163930 HGNC:950 BARD1 gene BARD1 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000138376 ENSG00000138376 HGNC:952 BLM gene BLM Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000197299 ENSG00000197299 HGNC:1058 BRCA1 gene BRCA1 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000136492 ENSG00000136492 HGNC:20473 CHEK1 gene CHEK1 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000149554 ENSG00000149554 HGNC:1925 CHEK2 gene CHEK2 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000183765 ENSG00000183765 HGNC:16627 FAAP20 gene FAAP20 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown False 3 0;0;0 0.45 False ENSG00000162585 ENSG00000162585 HGNC:26428 FAN1 gene FAN1 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown False 3 0;0;0 0.45 False ENSG00000198690 ENSG00000198690 HGNC:29170 FANCA gene FANCA Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCC gene FANCC Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown False 3 0;0;0 0.45 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCL gene FANCL Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000115392 ENSG00000115392 HGNC:20748 FANCM gene FANCM Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 16912188 False 3 0;0;0 0.45 False ENSG00000187790 ENSG00000187790 HGNC:23168 MGMT gene MGMT Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown False 3 0;0;0 0.45 False ENSG00000170430 ENSG00000170430 HGNC:7059 MRE11 gene MRE11 Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000020922 ENSG00000020922 HGNC:7230 NBN gene NBN Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000104320 ENSG00000104320 HGNC:7652 PALB2 gene PALB2 Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000083093 ENSG00000083093 HGNC:26144 POLQ gene POLQ Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown False 3 0;0;0 0.45 False ENSG00000051341 ENSG00000051341 HGNC:9186 PTEN gene PTEN Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 28288110 False 3 0;0;0 0.45 False ENSG00000171862 ENSG00000171862 HGNC:9588 RAD50 gene RAD50 Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51B gene RAD51B Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000182185 ENSG00000182185 HGNC:9822 RAD51C gene RAD51C Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 28288110 False 3 0;0;0 0.45 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Expert list;Expert Review Green Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown False 3 0;0;0 0.45 False ENSG00000185379 ENSG00000185379 HGNC:9823 RAD54L gene RAD54L Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 16912188 False 3 0;0;0 0.45 False ENSG00000085999 ENSG00000085999 HGNC:9826 RPA1 gene RPA1 Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 16912188 False 3 0;0;0 0.45 False ENSG00000132383 ENSG00000132383 HGNC:10289 SEM1 gene SEM1 Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 16912188 False 3 0;0;0 0.45 False ENSG00000127922 ENSG00000127922 HGNC:10845 WRN gene WRN Expert Review Green;Literature Homologous_recombination_deficiency_WTS_UMCCR Cancer Unknown PMID: 30234181 False 3 0;0;0 0.45 False ENSG00000165392 ENSG00000165392 HGNC:12791