##fileformat=VCFv4.0 ##FILTER= ##VEP=v82 cache=/data_ensembl/vep/grch37/release-83/homo_sapiens/83_GRCh37 db=homo_sapiens_core_83_37@ensdb-web-14 sift=sift5.2.2 polyphen=2.2.2 COSMIC=71 ESP=20141103 gencode=GENCODE 19 HGMD-PUBLIC=20152 genebuild=2011-04 regbuild=13 ClinVar=201507 dbSNP=144 assembly=GRCh37.p13 ##contig= ##INFO= ##VEP=v77 cache=/vlsci/VR0002/kmahmood/.vep/homo_sapiens/77_GRCh37 db=. ##LoF_info=Info used for LoF annotation ##LoF=Loss-of-function annotation (HC = High Confidence; LC = Low Confidence) ##LoF_flags=Possible warning flags for LoF ##LoF_filter=Reason for LoF not being HC ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##SnpEffVersion="4.1g (build 2015-05-17), by Pablo Cingolani" ##SnpEffCmd="SnpEff hg19 temp/functional.vep.vcf " ##INFO= ##INFO= ##INFO= #CHROM POS ID REF ALT QUAL FILTER INFO chr17 41256272 brca1:p.N103M G C . . OLD_CLUMPED=chr17:41256272:GT/CA;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|427|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|benign(0.23)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.308A>G|ENSP00000350283.3:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|56|56|19|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|benign(0.131)|2/12|||ENST00000484087.1:c.56A>G|ENSP00000419481.1:p.Thr19Ser||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|399|167|56|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.01)|benign(0.23)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.167A>G|ENSP00000418775.1:p.Thr56Ser||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|399|167|56|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.35)|benign(0.04)|5/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.167A>G|ENSP00000418819.1:p.Thr56Ser||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|540|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.17)|benign(0.05)|6/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.308A>G|ENSP00000418960.2:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|501|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.27)|benign(0.23)|6/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.308A>G|ENSP00000419103.1:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|389|230|77|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.19)|benign(0.009)|5/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.230A>G|ENSP00000420781.1:p.Thr77Ser||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|31|32|11|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|benign(0.085)|2/4|||ENST00000473961.1:c.31A>G|ENSP00000420201.1:p.Thr11Ser||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|502|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.31)|benign(0.04)|6/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.308A>G|ENSP00000417148.1:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|502|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.19)|benign(0.021)|6/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.308A>G|ENSP00000246907.4:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|469|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.16)|benign(0.23)|6/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.308A>G|ENSP00000419274.1:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|343|230|77|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.935)|5/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.230A>G|ENSP00000419988.1:p.Thr77Ser||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|540|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.09)|possibly_damaging(0.79)|6/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.308A>G|ENSP00000326002.6:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|410|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.46)||6/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.308A>G|ENSP00000420412.1:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|410|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.2)|benign(0.001)|6/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.308A>G|ENSP00000417554.1:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|540|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.32)|possibly_damaging(0.486)|6/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.308A>G|ENSP00000312236.5:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|327|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.3)|unknown(0)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.308A>G|ENSP00000338007.3:p.Thr103Ser||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|56|56|19|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.01)|benign(0.435)|2/7|||ENST00000487825.1:c.56A>G|ENSP00000418212.1:p.Thr19Ser||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|407|308|103|T/S|aCc/aGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.51)|benign(0.061)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.308A>G|ENSP00000420705.2:p.Thr103Ser||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|6/24|c.308C>G|p.Asn103Ser|540/7270|308/5655|103/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256273 brca1:p.N103M T A . . OLD_CLUMPED=chr17:41256272:GT/CA;CSQ=A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|539|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.733)|6/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.307A>T|ENSP00000418960.2:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|500|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.854)|6/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.307A>T|ENSP00000419103.1:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|388|229|77|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|benign(0.371)|5/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.229A>T|ENSP00000420781.1:p.Asn77Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|426|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.854)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.307A>T|ENSP00000350283.3:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|55|55|19|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|possibly_damaging(0.766)|2/12|||ENST00000484087.1:c.55A>T|ENSP00000419481.1:p.Asn19Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|398|166|56|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.02)|possibly_damaging(0.474)|5/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.166A>T|ENSP00000418819.1:p.Asn56Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|398|166|56|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|possibly_damaging(0.854)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.166A>T|ENSP00000418775.1:p.Asn56Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|539|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.04)|possibly_damaging(0.844)|6/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.307A>T|ENSP00000312236.5:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|326|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.307A>T|ENSP00000338007.3:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|55|55|19|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|possibly_damaging(0.742)|2/7|||ENST00000487825.1:c.55A>T|ENSP00000418212.1:p.Asn19Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|406|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.06)|possibly_damaging(0.583)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.307A>T|ENSP00000420705.2:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|30|31|11|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|benign(0.165)|2/4|||ENST00000473961.1:c.30A>T|ENSP00000420201.1:p.Asn11Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|501|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.03)|possibly_damaging(0.474)|6/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.307A>T|ENSP00000417148.1:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|501|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.344)|6/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.307A>T|ENSP00000246907.4:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|468|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.854)|6/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.307A>T|ENSP00000419274.1:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|342|229|77|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|5/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.229A>T|ENSP00000419988.1:p.Asn77Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|539|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|6/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.307A>T|ENSP00000326002.6:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|409|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.05)||6/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.307A>T|ENSP00000420412.1:p.Asn103Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|409|307|103|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|benign(0.328)|6/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.307A>T|ENSP00000417554.1:p.Asn103Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|6/24|c.307A>T|p.Asn103Tyr|539/7270|307/5655|103/1884|| chr17 41256273 brca1:p.N103G T C . . OLD_CLUMPED=chr17:41256273:TT/CC;CSQ=C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|539|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.39)|possibly_damaging(0.486)|6/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.307A>G|ENSP00000312236.5:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|326|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.24)|unknown(0)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.307A>G|ENSP00000338007.3:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|55|55|19|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.04)|possibly_damaging(0.616)|2/7|||ENST00000487825.1:c.55A>G|ENSP00000418212.1:p.Asn19Asp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|406|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.57)|benign(0.037)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.307A>G|ENSP00000420705.2:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|30|31|11|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0.03)|benign(0.152)|2/4|||ENST00000473961.1:c.30A>G|ENSP00000420201.1:p.Asn11Asp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|501|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.28)|benign(0.024)|6/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.307A>G|ENSP00000417148.1:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|501|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.04)|benign(0.007)|6/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.307A>G|ENSP00000246907.4:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|468|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.04)|possibly_damaging(0.772)|6/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.307A>G|ENSP00000419274.1:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|342|229|77|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.04)|probably_damaging(0.956)|5/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.229A>G|ENSP00000419988.1:p.Asn77Asp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|539|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.04)|possibly_damaging(0.79)|6/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.307A>G|ENSP00000326002.6:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|409|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.4)||6/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.307A>G|ENSP00000420412.1:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|409|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.21)|benign(0.002)|6/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.307A>G|ENSP00000417554.1:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|539|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.04)|benign(0.016)|6/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.307A>G|ENSP00000418960.2:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|388|229|77|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.18)|benign(0.005)|5/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.229A>G|ENSP00000420781.1:p.Asn77Asp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|500|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.04)|possibly_damaging(0.772)|6/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.307A>G|ENSP00000419103.1:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|426|307|103|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.04)|possibly_damaging(0.772)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.307A>G|ENSP00000350283.3:p.Asn103Asp||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|55|55|19|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|benign(0.203)|2/12|||ENST00000484087.1:c.55A>G|ENSP00000419481.1:p.Asn19Asp||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|398|166|56|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.04)|possibly_damaging(0.772)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.166A>G|ENSP00000418775.1:p.Asn56Asp||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|398|166|56|N/D|Aac/Gac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.21)|benign(0.024)|5/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.166A>G|ENSP00000418819.1:p.Asn56Asp||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|6/24|c.307A>G|p.Asn103Asp|539/7270|307/5655|103/1884|| chr17 41256273 brca1:p.N103P T G . . OLD_CLUMPED=chr17:41256273:TT/GG;CSQ=G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|409|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.09)||6/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.307A>C|ENSP00000420412.1:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|409|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.05)|benign(0.01)|6/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.307A>C|ENSP00000417554.1:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|539|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.04)|probably_damaging(0.978)|6/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.307A>C|ENSP00000326002.6:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|501|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.03)|benign(0.017)|6/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.307A>C|ENSP00000246907.4:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|468|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.03)|benign(0.132)|6/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.307A>C|ENSP00000419274.1:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|342|229|77|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.03)|probably_damaging(0.987)|5/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.229A>C|ENSP00000419988.1:p.Asn77His||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|missense_variant|30|31|11|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0.03)|benign(0.007)|2/4|||ENST00000473961.1:c.30A>C|ENSP00000420201.1:p.Asn11His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|501|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.06)|benign(0.03)|6/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.307A>C|ENSP00000417148.1:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|55|55|19|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|benign(0.039)|2/7|||ENST00000487825.1:c.55A>C|ENSP00000418212.1:p.Asn19His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|326|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.06)|unknown(0)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.307A>C|ENSP00000338007.3:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|406|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.12)|benign(0.047)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.307A>C|ENSP00000420705.2:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|539|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.09)|possibly_damaging(0.844)|6/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.307A>C|ENSP00000312236.5:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|398|166|56|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.04)|benign(0.03)|5/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.166A>C|ENSP00000418819.1:p.Asn56His||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|398|166|56|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.03)|benign(0.132)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.166A>C|ENSP00000418775.1:p.Asn56His||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|55|55|19|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|benign(0.103)|2/12|||ENST00000484087.1:c.55A>C|ENSP00000419481.1:p.Asn19His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|426|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.03)|benign(0.132)|6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.307A>C|ENSP00000350283.3:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|539|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.03)|benign(0.04)|6/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.307A>C|ENSP00000418960.2:p.Asn103His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|388|229|77|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.05)|benign(0.012)|5/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.229A>C|ENSP00000420781.1:p.Asn77His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|500|307|103|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.03)|benign(0.132)|6/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.307A>C|ENSP00000419103.1:p.Asn103His||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|6/24|c.307A>C|p.Asn103His|539/7270|307/5655|103/1884|| chr17 41256274 brca1:p.N103G T C . . OLD_CLUMPED=chr17:41256273:TT/CC;CSQ=C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|408|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||6/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.306A>G|ENST00000476777.1:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|408|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||6/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.306A>G|ENST00000478531.1:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|538|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||6/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.306A>G|ENST00000354071.3:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|341|228|76|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||5/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.228A>G|ENST00000477152.1:c.228A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|500|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||6/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.306A>G|ENST00000346315.3:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|467|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||6/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.306A>G|ENST00000470026.1:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|500|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||6/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.306A>G|ENST00000468300.1:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|29|30|10|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||2/4|||ENST00000473961.1:c.29A>G|ENST00000473961.1:c.29A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|405|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.306A>G|ENST00000491747.2:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|325|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.306A>G|ENST00000351666.3:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|54|54|18|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||2/7|||ENST00000487825.1:c.54A>G|ENST00000487825.1:c.54A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|538|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||6/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.306A>G|ENST00000352993.3:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|397|165|55|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||5/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.165A>G|ENST00000493919.1:c.165A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|397|165|55|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.165A>G|ENST00000493795.1:c.165A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|54|54|18|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||2/12|||ENST00000484087.1:c.54A>G|ENST00000484087.1:c.54A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|425|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.306A>G|ENST00000357654.3:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|387|228|76|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||5/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.228A>G|ENST00000489037.1:c.228A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|499|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||6/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.306A>G|ENST00000494123.1:c.306A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|538|306|102|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||6/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.306A>G|ENST00000471181.2:c.306A>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|6/24|c.306A>G|p.Ala102Ala|538/7270|306/5655|102/1884|| chr17 41256274 brca1:p.N103P T G . . OLD_CLUMPED=chr17:41256273:TT/GG;CSQ=G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|397|165|55|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||5/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.165A>C|ENST00000493919.1:c.165A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|397|165|55|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.165A>C|ENST00000493795.1:c.165A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|425|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.306A>C|ENST00000357654.3:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|54|54|18|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||2/12|||ENST00000484087.1:c.54A>C|ENST00000484087.1:c.54A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|387|228|76|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||5/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.228A>C|ENST00000489037.1:c.228A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|499|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||6/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.306A>C|ENST00000494123.1:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|538|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||6/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.306A>C|ENST00000471181.2:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|538|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||6/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.306A>C|ENST00000354071.3:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|408|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||6/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.306A>C|ENST00000476777.1:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|408|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||6/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.306A>C|ENST00000478531.1:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|500|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||6/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.306A>C|ENST00000468300.1:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|29|30|10|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||2/4|||ENST00000473961.1:c.29A>C|ENST00000473961.1:c.29A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|341|228|76|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||5/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.228A>C|ENST00000477152.1:c.228A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|500|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||6/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.306A>C|ENST00000346315.3:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|467|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||6/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.306A>C|ENST00000470026.1:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|405|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||6/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.306A>C|ENST00000491747.2:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|325|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.306A>C|ENST00000351666.3:c.306A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|54|54|18|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||2/7|||ENST00000487825.1:c.54A>C|ENST00000487825.1:c.54A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|538|306|102|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||6/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.306A>C|ENST00000352993.3:c.306A>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|6/24|c.306A>C|p.Ala102Ala|538/7270|306/5655|102/1884|| chr17 41256888 brca1:p.E100W T C . . OLD_CLUMPED=chr17:41256888:TC/CA;CSQ=C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|530|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|379|220|74|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys74Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|491|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|46|46|16|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Lys16Glu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|417|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|389|157|53|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Lys53Glu||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|389|157|53|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Lys53Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|530|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|317|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|46|46|16|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Lys16Glu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|397|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|492|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|459|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|333|220|74|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys74Glu||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|21|22|8|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||ENSP00000420201.1:p.Lys8Glu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|492|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|400|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|400|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys100Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|530|298|100|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys100Glu||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.298A>G|p.Glu100Glu|530/7270|298/5655|100/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256889 brca1:p.E100W C A . . OLD_CLUMPED=chr17:41256888:TC/CA;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|316|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.1)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.297G>T|ENSP00000338007.3:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|45|45|15|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|tolerated(0.05)|probably_damaging(0.997)|1/7|||ENST00000487825.1:c.45G>T|ENSP00000418212.1:p.Leu15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|396|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.12)|possibly_damaging(0.537)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.297G>T|ENSP00000420705.2:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|529|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.74)|possibly_damaging(0.765)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.297G>T|ENSP00000312236.5:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|529|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.11)|possibly_damaging(0.792)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.297G>T|ENSP00000326002.6:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|399|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.08)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.297G>T|ENSP00000420412.1:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|399|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.27)|benign(0.035)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.297G>T|ENSP00000417554.1:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|20|21|7|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|tolerated(0.17)|possibly_damaging(0.865)|1/4|||ENST00000473961.1:c.20G>T|ENSP00000420201.1:p.Leu7Phe||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|491|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.1)|benign(0.251)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.297G>T|ENSP00000417148.1:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|458|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.12)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.297G>T|ENSP00000419274.1:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|491|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.11)|probably_damaging(0.94)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.297G>T|ENSP00000246907.4:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|332|219|73|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.13)|probably_damaging(0.986)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.219G>T|ENSP00000419988.1:p.Leu73Phe||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|529|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.12)|possibly_damaging(0.892)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.297G>T|ENSP00000418960.2:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|378|219|73|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.28)|benign(0.03)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.219G>T|ENSP00000420781.1:p.Leu73Phe||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|490|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.12)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.297G>T|ENSP00000419103.1:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|388|156|52|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.13)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.156G>T|ENSP00000418775.1:p.Leu52Phe||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|388|156|52|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.07)|possibly_damaging(0.453)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.156G>T|ENSP00000418819.1:p.Leu52Phe||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|416|297|99|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.13)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.297G>T|ENSP00000350283.3:p.Leu99Phe||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|45|45|15|L/F|ttG/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.08)|possibly_damaging(0.751)|1/12|||ENST00000484087.1:c.45G>T|ENSP00000419481.1:p.Leu15Phe||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.297G>T|p.Leu99Phe|529/7270|297/5655|99/1884|| chr17 41256890 brca1:p.L99W A C . . CSQ=C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|387|155|52|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.155T>G|ENSP00000418775.1:p.Leu52Trp||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|387|155|52|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|probably_damaging(0.981)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.155T>G|ENSP00000418819.1:p.Leu52Trp||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|44|44|15|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0.01)|probably_damaging(0.995)|1/12|||ENST00000484087.1:c.44T>G|ENSP00000419481.1:p.Leu15Trp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|415|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.296T>G|ENSP00000350283.3:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|377|218|73|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.05)|possibly_damaging(0.884)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.218T>G|ENSP00000420781.1:p.Leu73Trp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|489|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.296T>G|ENSP00000419103.1:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|528|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.982)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.296T>G|ENSP00000418960.2:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|398|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.05)|probably_damaging(0.933)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.296T>G|ENSP00000417554.1:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|398|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.296T>G|ENSP00000420412.1:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|528|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.965)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.296T>G|ENSP00000326002.6:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|331|218|73|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.218T>G|ENSP00000419988.1:p.Leu73Trp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|457|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.296T>G|ENSP00000419274.1:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|490|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.986)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.296T>G|ENSP00000246907.4:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|490|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.971)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.296T>G|ENSP00000417148.1:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|19|20|7|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.966)|1/4|||ENST00000473961.1:c.19T>G|ENSP00000420201.1:p.Leu7Trp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|395|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|probably_damaging(0.992)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.296T>G|ENSP00000420705.2:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|315|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.296T>G|ENSP00000338007.3:p.Leu99Trp||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|44|44|15|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.01)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.44T>G|ENSP00000418212.1:p.Leu15Trp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|528|296|99|L/W|tTg/tGg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.12)|probably_damaging(0.938)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.296T>G|ENSP00000312236.5:p.Leu99Trp||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.296T>G|p.Leu99Trp|528/7270|296/5655|99/1884|| chr17 41256891 brca1:p.L99G A C . . OLD_CLUMPED=chr17:41256891:AA/CC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|414|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.22)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.295T>G|ENSP00000350283.3:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|43|43|15|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.09)|possibly_damaging(0.587)|1/12|||ENST00000484087.1:c.43T>G|ENSP00000419481.1:p.Leu15Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|386|154|52|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.34)|benign(0.168)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.154T>G|ENSP00000418819.1:p.Leu52Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|386|154|52|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.22)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.154T>G|ENSP00000418775.1:p.Leu52Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|527|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.39)|possibly_damaging(0.782)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.295T>G|ENSP00000418960.2:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|376|217|73|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.39)|benign(0.038)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.217T>G|ENSP00000420781.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|488|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.53)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.295T>G|ENSP00000419103.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|18|19|7|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0.02)|benign(0.396)|1/4|||ENST00000473961.1:c.18T>G|ENSP00000420201.1:p.Leu7Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|489|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.3)|benign(0.118)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.295T>G|ENSP00000417148.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|489|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.5)|possibly_damaging(0.706)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.295T>G|ENSP00000246907.4:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|456|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.43)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.295T>G|ENSP00000419274.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|330|217|73|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.26)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.217T>G|ENSP00000419988.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|527|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.34)|benign(0.047)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.295T>G|ENSP00000326002.6:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|397|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.51)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.295T>G|ENSP00000420412.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|397|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.42)|benign(0.01)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.295T>G|ENSP00000417554.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|527|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.53)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.295T>G|ENSP00000312236.5:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|43|43|15|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|tolerated(0.06)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.43T>G|ENSP00000418212.1:p.Leu15Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|314|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.52)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.295T>G|ENSP00000338007.3:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|394|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.53)|benign(0.316)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.295T>G|ENSP00000420705.2:p.Leu99Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.295T>G|p.Leu99Val|527/7270|295/5655|99/1884|| chr17 41256891 brca1:p.L99V A C . . CSQ=C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|386|154|52|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.22)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.154T>G|ENSP00000418775.1:p.Leu52Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|386|154|52|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.34)|benign(0.168)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.154T>G|ENSP00000418819.1:p.Leu52Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|43|43|15|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.09)|possibly_damaging(0.587)|1/12|||ENST00000484087.1:c.43T>G|ENSP00000419481.1:p.Leu15Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|414|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.22)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.295T>G|ENSP00000350283.3:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|527|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.39)|possibly_damaging(0.782)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.295T>G|ENSP00000418960.2:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|376|217|73|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.39)|benign(0.038)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.217T>G|ENSP00000420781.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|488|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.53)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.295T>G|ENSP00000419103.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|397|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.51)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.295T>G|ENSP00000420412.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|397|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.42)|benign(0.01)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.295T>G|ENSP00000417554.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|527|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.34)|benign(0.047)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.295T>G|ENSP00000326002.6:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|489|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.5)|possibly_damaging(0.706)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.295T>G|ENSP00000246907.4:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|456|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.43)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.295T>G|ENSP00000419274.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|330|217|73|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.26)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.217T>G|ENSP00000419988.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|18|19|7|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0.02)|benign(0.396)|1/4|||ENST00000473961.1:c.18T>G|ENSP00000420201.1:p.Leu7Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|489|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.3)|benign(0.118)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.295T>G|ENSP00000417148.1:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|314|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.52)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.295T>G|ENSP00000338007.3:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|43|43|15|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|tolerated(0.06)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.43T>G|ENSP00000418212.1:p.Leu15Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|394|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.53)|benign(0.316)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.295T>G|ENSP00000420705.2:p.Leu99Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|527|295|99|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.53)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.295T>G|ENSP00000312236.5:p.Leu99Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.295T>G|p.Leu99Val|527/7270|295/5655|99/1884|| chr17 41256892 brca1:p.L99G A C . . OLD_CLUMPED=chr17:41256891:AA/CC;CSQ=C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|526|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.294T>G|ENST00000354071.3:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|396|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.294T>G|ENST00000476777.1:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|396|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.294T>G|ENST00000478531.1:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|488|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.294T>G|ENST00000468300.1:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|17|18|6|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.17T>G|ENST00000473961.1:c.17T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|329|216|72|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.216T>G|ENST00000477152.1:c.216T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|488|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.294T>G|ENST00000346315.3:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|455|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.294T>G|ENST00000470026.1:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|393|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.294T>G|ENST00000491747.2:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|313|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.294T>G|ENST00000351666.3:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|42|42|14|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.42T>G|ENST00000487825.1:c.42T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|526|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.294T>G|ENST00000352993.3:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|385|153|51|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.153T>G|ENST00000493919.1:c.153T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|385|153|51|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.153T>G|ENST00000493795.1:c.153T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|413|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.294T>G|ENST00000357654.3:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|42|42|14|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.42T>G|ENST00000484087.1:c.42T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|375|216|72|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.216T>G|ENST00000489037.1:c.216T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|487|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.294T>G|ENST00000494123.1:c.294T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|526|294|98|G|ggT/ggG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.294T>G|ENST00000471181.2:c.294T>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.294T>G|p.Gly98Gly|526/7270|294/5655|98/1884|| chr17 41256894 brca1:p.G98R C G . . CSQ=G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|40|40|14|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0.01)|probably_damaging(1)|1/12|||ENST00000484087.1:c.40G>C|ENSP00000419481.1:p.Gly14Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|411|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.292G>C|ENSP00000350283.3:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|383|151|51|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.151G>C|ENSP00000418819.1:p.Gly51Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|383|151|51|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.151G>C|ENSP00000418775.1:p.Gly51Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|524|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.975)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.292G>C|ENSP00000418960.2:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|485|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.292G>C|ENSP00000419103.1:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|373|214|72|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.973)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.214G>C|ENSP00000420781.1:p.Gly72Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|453|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.292G>C|ENSP00000419274.1:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|486|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.94)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.292G>C|ENSP00000246907.4:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|327|214|72|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.998)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.214G>C|ENSP00000419988.1:p.Gly72Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|missense_variant|15|16|6|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|possibly_damaging(0.901)|1/4|||ENST00000473961.1:c.15G>C|ENSP00000420201.1:p.Gly6Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|486|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.997)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.292G>C|ENSP00000417148.1:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|394|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.292G>C|ENSP00000420412.1:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|394|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.991)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.292G>C|ENSP00000417554.1:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|524|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(1)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.292G>C|ENSP00000326002.6:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|524|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.979)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.292G>C|ENSP00000312236.5:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|40|40|14|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(1)|1/7|||ENST00000487825.1:c.40G>C|ENSP00000418212.1:p.Gly14Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|311|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.292G>C|ENSP00000338007.3:p.Gly98Arg||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|391|292|98|G/R|Ggt/Cgt|rs80357409&CM014002||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.292G>C|ENSP00000420705.2:p.Gly98Arg||||||A:0|A:0.000116|||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.292G>C|p.Gly98Arg|524/7270|292/5655|98/1884|| chr17 41256896 brca1:p.T97M T C . . OLD_CLUMPED=chr17:41256896:TG/CA;CSQ=C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|38|38|13|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0.02)|possibly_damaging(0.887)|1/12|||ENST00000484087.1:c.38C>G|ENSP00000419481.1:p.Lys13Arg||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|409|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.989)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.290C>G|ENSP00000350283.3:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|381|149|50|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.989)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.149C>G|ENSP00000418775.1:p.Lys50Arg||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|381|149|50|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|possibly_damaging(0.766)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.149C>G|ENSP00000418819.1:p.Lys50Arg||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|522|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.962)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.290C>G|ENSP00000418960.2:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|483|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.989)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.290C>G|ENSP00000419103.1:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|371|212|71|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|benign(0.028)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.212C>G|ENSP00000420781.1:p.Lys71Arg||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|484|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.132)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.290C>G|ENSP00000246907.4:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|451|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.989)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.290C>G|ENSP00000419274.1:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|325|212|71|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.987)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.212C>G|ENSP00000419988.1:p.Lys71Arg||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|13|14|5|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|possibly_damaging(0.759)|1/4|||ENST00000473961.1:c.13C>G|ENSP00000420201.1:p.Lys5Arg||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|484|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|possibly_damaging(0.766)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.290C>G|ENSP00000417148.1:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|392|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.290C>G|ENSP00000420412.1:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|392|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.945)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.290C>G|ENSP00000417554.1:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|522|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.996)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.290C>G|ENSP00000326002.6:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|522|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.702)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.290C>G|ENSP00000312236.5:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|309|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.290C>G|ENSP00000338007.3:p.Lys97Arg||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|38|38|13|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.01)|probably_damaging(0.997)|1/7|||ENST00000487825.1:c.38C>G|ENSP00000418212.1:p.Lys13Arg||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|389|290|97|K/R|aAa/aGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|possibly_damaging(0.834)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.290C>G|ENSP00000420705.2:p.Lys97Arg||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.290A>G|p.Thr97Arg|522/7270|290/5655|97/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256897 brca1:p.T97M G A . . OLD_CLUMPED=chr17:41256896:TG/CA;CSQ=A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|370|211|71|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.13)|benign(0.032)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.211A>T|ENSP00000420781.1:p.Pro71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|482|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.05)|possibly_damaging(0.794)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.289A>T|ENSP00000419103.1:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|521|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.06)|possibly_damaging(0.783)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.289A>T|ENSP00000418960.2:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|37|37|13|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.36)|possibly_damaging(0.82)|1/12|||ENST00000484087.1:c.37A>T|ENSP00000419481.1:p.Pro13Ser||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|408|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.07)|possibly_damaging(0.794)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.289A>T|ENSP00000350283.3:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|380|148|50|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.13)|possibly_damaging(0.573)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.148A>T|ENSP00000418819.1:p.Pro50Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|380|148|50|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.07)|possibly_damaging(0.794)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.148A>T|ENSP00000418775.1:p.Pro50Ser||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|521|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.16)|possibly_damaging(0.486)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.289A>T|ENSP00000312236.5:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|388|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.29)|possibly_damaging(0.55)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.289A>T|ENSP00000420705.2:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|37|37|13|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|tolerated(0.21)|probably_damaging(0.987)|1/7|||ENST00000487825.1:c.37A>T|ENSP00000418212.1:p.Pro13Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|308|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.21)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.289A>T|ENSP00000338007.3:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|324|211|71|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.07)|probably_damaging(0.935)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.211A>T|ENSP00000419988.1:p.Pro71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|483|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.07)|possibly_damaging(0.554)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.289A>T|ENSP00000246907.4:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|450|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.06)|possibly_damaging(0.794)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.289A>T|ENSP00000419274.1:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|483|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.24)|benign(0.443)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.289A>T|ENSP00000417148.1:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|12|13|5|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|tolerated(0.1)|possibly_damaging(0.473)|1/4|||ENST00000473961.1:c.12A>T|ENSP00000420201.1:p.Pro5Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|391|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.14)|benign(0.261)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.289A>T|ENSP00000417554.1:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|391|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.27)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.289A>T|ENSP00000420412.1:p.Pro97Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|521|289|97|P/S|Cca/Tca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.08)|probably_damaging(0.98)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.289A>T|ENSP00000326002.6:p.Pro97Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.289C>T|p.Thr97Ser|521/7270|289/5655|97/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256897 brca1:p.T97G G C . . OLD_CLUMPED=chr17:41256897:GT/CC;CSQ=C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|37|37|13|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.08)|probably_damaging(0.954)|1/12|||ENST00000484087.1:c.37A>G|ENSP00000419481.1:p.Pro13Ala||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|408|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.906)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.289A>G|ENSP00000350283.3:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|380|148|50|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|possibly_damaging(0.864)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.148A>G|ENSP00000418819.1:p.Pro50Ala||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|380|148|50|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|possibly_damaging(0.906)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.148A>G|ENSP00000418775.1:p.Pro50Ala||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|370|211|71|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|benign(0.203)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.211A>G|ENSP00000420781.1:p.Pro71Ala||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|482|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.906)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.289A>G|ENSP00000419103.1:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|521|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.646)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.289A>G|ENSP00000418960.2:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|324|211|71|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.935)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.211A>G|ENSP00000419988.1:p.Pro71Ala||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|450|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.906)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.289A>G|ENSP00000419274.1:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|483|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.53)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.289A>G|ENSP00000246907.4:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|483|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|possibly_damaging(0.906)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.289A>G|ENSP00000417148.1:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|12|13|5|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0.01)|possibly_damaging(0.473)|1/4|||ENST00000473961.1:c.12A>G|ENSP00000420201.1:p.Pro5Ala||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|391|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.701)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.289A>G|ENSP00000417554.1:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|391|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.289A>G|ENSP00000420412.1:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|521|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.98)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.289A>G|ENSP00000326002.6:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|521|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|benign(0.388)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.289A>G|ENSP00000312236.5:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|388|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|possibly_damaging(0.907)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.289A>G|ENSP00000420705.2:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|308|289|97|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.289A>G|ENSP00000338007.3:p.Pro97Ala||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|37|37|13|P/A|Cca/Gca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.05)|probably_damaging(0.987)|1/7|||ENST00000487825.1:c.37A>G|ENSP00000418212.1:p.Pro13Ala||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.289C>G|p.Thr97Ala|521/7270|289/5655|97/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256897 brca1:p.T97Q G T . . OLD_CLUMPED=chr17:41256897:GT/TG;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|521|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|308|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|37|37|13|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Pro13Thr||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|388|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000473961|Transcript|missense_variant|12|13|5|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||ENSP00000420201.1:p.Pro5Thr||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|483|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|483|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|450|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|324|211|71|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Pro71Thr||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|521|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|391|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|391|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|521|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|370|211|71|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Pro71Thr||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|482|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|408|289|97|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Pro97Thr||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|37|37|13|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Pro13Thr||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|380|148|50|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Pro50Thr||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|380|148|50|P/T|Cca/Aca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Pro50Thr||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.289C>A|p.Thr97Thr|521/7270|289/5655|97/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256898 brca1:p.T97G T C . . OLD_CLUMPED=chr17:41256897:GT/CC;CSQ=C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|369|210|70|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.210C>G|ENST00000489037.1:c.210C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|481|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.288C>G|ENST00000494123.1:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|520|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.288C>G|ENST00000471181.2:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|407|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.288C>G|ENST00000357654.3:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|36|36|12|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.36C>G|ENST00000484087.1:c.36C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|379|147|49|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.147C>G|ENST00000493919.1:c.147C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|379|147|49|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.147C>G|ENST00000493795.1:c.147C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|520|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.288C>G|ENST00000352993.3:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|387|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.288C>G|ENST00000491747.2:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|307|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.288C>G|ENST00000351666.3:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|36|36|12|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.36C>G|ENST00000487825.1:c.36C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|482|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.288C>G|ENST00000468300.1:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|11|12|4|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.11C>G|ENST00000473961.1:c.11C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|323|210|70|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.210C>G|ENST00000477152.1:c.210C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|482|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.288C>G|ENST00000346315.3:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|449|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.288C>G|ENST00000470026.1:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|520|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.288C>G|ENST00000354071.3:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|390|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.288C>G|ENST00000476777.1:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|390|288|96|E|gaA/gaG|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.288C>G|ENST00000478531.1:c.288C>G(p.%3D)||||||A:0|A:0.000116|||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.288A>G|p.Asp96Glu|520/7270|288/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256898 brca1:p.T97Q T G . . OLD_CLUMPED=chr17:41256897:GT/TG;CSQ=G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|369|210|70|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Glu70Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|481|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|520|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|407|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|36|36|12|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Glu12Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|379|147|49|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Glu49Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|379|147|49|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Glu49Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|520|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|387|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|307|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|36|36|12|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Glu12Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|482|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|missense_variant|11|12|4|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||ENSP00000420201.1:p.Glu4Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|323|210|70|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Glu70Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|449|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|482|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|520|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|390|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Glu96Asp||||||A:0|A:0.000116|||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|390|288|96|E/D|gaA/gaC|rs146085503||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Glu96Asp||||||A:0|A:0.000116|||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.288A>C|p.Asp96Asp|520/7270|288/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256899 brca1:p.D96A T G . . CSQ=G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|378|146|49|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.146A>C|ENSP00000418775.1:p.Asp49Ala||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|378|146|49|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.146A>C|ENSP00000418819.1:p.Asp49Ala||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|35|35|12|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.35A>C|ENSP00000419481.1:p.Asp12Ala||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|406|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.287A>C|ENSP00000350283.3:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|519|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.878)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.287A>C|ENSP00000418960.2:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|368|209|70|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.209A>C|ENSP00000420781.1:p.Asp70Ala||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|480|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.287A>C|ENSP00000419103.1:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|389|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.287A>C|ENSP00000420412.1:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|389|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.287A>C|ENSP00000417554.1:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|519|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.996)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.287A>C|ENSP00000326002.6:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|481|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.724)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.287A>C|ENSP00000246907.4:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|448|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.287A>C|ENSP00000419274.1:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|322|209|70|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.986)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.209A>C|ENSP00000419988.1:p.Asp70Ala||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|missense_variant|10|11|4|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|possibly_damaging(0.703)|1/4|||ENST00000473961.1:c.10A>C|ENSP00000420201.1:p.Asp4Ala||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|481|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.287A>C|ENSP00000417148.1:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|306|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.287A>C|ENSP00000338007.3:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|35|35|12|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.997)|1/7|||ENST00000487825.1:c.35A>C|ENSP00000418212.1:p.Asp12Ala||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|386|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.287A>C|ENSP00000420705.2:p.Asp96Ala||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|519|287|96|D/A|gAc/gCc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.728)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.287A>C|ENSP00000312236.5:p.Asp96Ala||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.287A>C|p.Asp96Ala|519/7270|287/5655|96/1884|| chr17 41256899 brca1:p.D96G T C . . CSQ=C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|389|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.287A>G|ENSP00000420412.1:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|389|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.287A>G|ENSP00000417554.1:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|519|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.287A>G|ENSP00000326002.6:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|481|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.835)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.287A>G|ENSP00000246907.4:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|448|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.287A>G|ENSP00000419274.1:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|322|209|70|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.977)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.209A>G|ENSP00000419988.1:p.Asp70Gly||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|10|11|4|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|possibly_damaging(0.766)|1/4|||ENST00000473961.1:c.10A>G|ENSP00000420201.1:p.Asp4Gly||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|481|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.287A>G|ENSP00000417148.1:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|306|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.287A>G|ENSP00000338007.3:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|35|35|12|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.995)|1/7|||ENST00000487825.1:c.35A>G|ENSP00000418212.1:p.Asp12Gly||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|386|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.287A>G|ENSP00000420705.2:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|519|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.728)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.287A>G|ENSP00000312236.5:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|378|146|49|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.146A>G|ENSP00000418775.1:p.Asp49Gly||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|378|146|49|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.146A>G|ENSP00000418819.1:p.Asp49Gly||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|35|35|12|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.35A>G|ENSP00000419481.1:p.Asp12Gly||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|406|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.287A>G|ENSP00000350283.3:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|519|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.933)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.287A>G|ENSP00000418960.2:p.Asp96Gly||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|368|209|70|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.209A>G|ENSP00000420781.1:p.Asp70Gly||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|480|287|96|D/G|gAc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.287A>G|ENSP00000419103.1:p.Asp96Gly||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.287A>G|p.Asp96Gly|519/7270|287/5655|96/1884|| chr17 41256899 brca1:p.D96V T A . . CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|406|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.287A>T|ENSP00000350283.3:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|35|35|12|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.35A>T|ENSP00000419481.1:p.Asp12Val||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|378|146|49|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.146A>T|ENSP00000418775.1:p.Asp49Val||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|378|146|49|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.146A>T|ENSP00000418819.1:p.Asp49Val||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|519|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.916)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.287A>T|ENSP00000418960.2:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|368|209|70|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.209A>T|ENSP00000420781.1:p.Asp70Val||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|480|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.287A>T|ENSP00000419103.1:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|10|11|4|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|possibly_damaging(0.631)|1/4|||ENST00000473961.1:c.10A>T|ENSP00000420201.1:p.Asp4Val||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|481|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.99)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.287A>T|ENSP00000417148.1:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|448|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.287A>T|ENSP00000419274.1:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|481|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.654)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.287A>T|ENSP00000246907.4:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|322|209|70|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.209A>T|ENSP00000419988.1:p.Asp70Val||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|519|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.997)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.287A>T|ENSP00000326002.6:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|389|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.287A>T|ENSP00000420412.1:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|389|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.987)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.287A>T|ENSP00000417554.1:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|519|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.904)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.287A>T|ENSP00000312236.5:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|306|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.287A>T|ENSP00000338007.3:p.Asp96Val||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|35|35|12|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.998)|1/7|||ENST00000487825.1:c.35A>T|ENSP00000418212.1:p.Asp12Val||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|386|287|96|D/V|gAc/gTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.287A>T|ENSP00000420705.2:p.Asp96Val||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.287A>T|p.Asp96Val|519/7270|287/5655|96/1884|| chr17 41256900 brca1:p.D96C T C . . OLD_CLUMPED=chr17:41256900:TC/CA;CSQ=C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asn70Asp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Asn49Asp||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Asn49Asp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Asn12Asp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Asn12Asp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||ENSP00000420201.1:p.Asn4Asp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asn70Asp||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286A>G|p.Asp96Asp|518/7270|286/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256900 brca1:p.D96F T A . . OLD_CLUMPED=chr17:41256900:TC/AA;CSQ=A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.286G>T|ENSP00000417148.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.944)|1/4|||ENST00000473961.1:c.9G>T|ENSP00000420201.1:p.Asn4Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.208G>T|ENSP00000419988.1:p.Asn70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.286G>T|ENSP00000246907.4:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.286G>T|ENSP00000419274.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.286G>T|ENSP00000326002.6:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.286G>T|ENSP00000417554.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.286G>T|ENSP00000420412.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.934)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.286G>T|ENSP00000312236.5:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.286G>T|ENSP00000420705.2:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.286G>T|ENSP00000338007.3:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.34G>T|ENSP00000418212.1:p.Asn12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.286G>T|ENSP00000350283.3:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.34G>T|ENSP00000419481.1:p.Asn12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.145G>T|ENSP00000418819.1:p.Asn49Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.145G>T|ENSP00000418775.1:p.Asn49Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.208G>T|ENSP00000420781.1:p.Asn70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.286G>T|ENSP00000419103.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.286G>T|ENSP00000418960.2:p.Asn96Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286A>T|p.Asp96Tyr|518/7270|286/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256900 brca1:p.D96H C G . . CSQ=G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.208G>C|ENSP00000420781.1:p.Asp70His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.286G>C|ENSP00000419103.1:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.286G>C|ENSP00000418960.2:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.145G>C|ENSP00000418819.1:p.Asp49His||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.145G>C|ENSP00000418775.1:p.Asp49His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.286G>C|ENSP00000350283.3:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.34G>C|ENSP00000419481.1:p.Asp12His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.286G>C|ENSP00000420705.2:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.286G>C|ENSP00000338007.3:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.34G>C|ENSP00000418212.1:p.Asp12His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.934)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.286G>C|ENSP00000312236.5:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.286G>C|ENSP00000326002.6:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.286G>C|ENSP00000417554.1:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.286G>C|ENSP00000420412.1:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.286G>C|ENSP00000417148.1:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.958)|1/4|||ENST00000473961.1:c.9G>C|ENSP00000420201.1:p.Asp4His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.208G>C|ENSP00000419988.1:p.Asp70His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.286G>C|ENSP00000246907.4:p.Asp96His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|D/H|Gac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.286G>C|ENSP00000419274.1:p.Asp96His||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286G>C|p.Asp96His|518/7270|286/5655|96/1884|| chr17 41256900 brca1:p.D96I T A . . OLD_CLUMPED=chr17:41256900:TC/AT;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.934)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.286G>T|ENSP00000312236.5:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.286G>T|ENSP00000420705.2:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.286G>T|ENSP00000338007.3:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.34G>T|ENSP00000418212.1:p.Asn12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.286G>T|ENSP00000417148.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.944)|1/4|||ENST00000473961.1:c.9G>T|ENSP00000420201.1:p.Asn4Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.208G>T|ENSP00000419988.1:p.Asn70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.286G>T|ENSP00000419274.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.286G>T|ENSP00000246907.4:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.286G>T|ENSP00000326002.6:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.286G>T|ENSP00000417554.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.286G>T|ENSP00000420412.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.208G>T|ENSP00000420781.1:p.Asn70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.286G>T|ENSP00000419103.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.286G>T|ENSP00000418960.2:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.286G>T|ENSP00000350283.3:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.34G>T|ENSP00000419481.1:p.Asn12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.145G>T|ENSP00000418775.1:p.Asn49Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.145G>T|ENSP00000418819.1:p.Asn49Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286A>T|p.Asp96Tyr|518/7270|286/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256900 brca1:p.D96L T A . . OLD_CLUMPED=chr17:41256900:TC/AG;CSQ=A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.145G>T|ENSP00000418819.1:p.Asn49Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.145G>T|ENSP00000418775.1:p.Asn49Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.286G>T|ENSP00000350283.3:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.34G>T|ENSP00000419481.1:p.Asn12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.286G>T|ENSP00000419103.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.208G>T|ENSP00000420781.1:p.Asn70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.286G>T|ENSP00000418960.2:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.286G>T|ENSP00000326002.6:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.286G>T|ENSP00000417554.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.286G>T|ENSP00000420412.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.286G>T|ENSP00000417148.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.944)|1/4|||ENST00000473961.1:c.9G>T|ENSP00000420201.1:p.Asn4Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.208G>T|ENSP00000419988.1:p.Asn70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.286G>T|ENSP00000419274.1:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.286G>T|ENSP00000246907.4:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.286G>T|ENSP00000420705.2:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.286G>T|ENSP00000338007.3:p.Asn96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.34G>T|ENSP00000418212.1:p.Asn12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|N/Y|Aac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.934)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.286G>T|ENSP00000312236.5:p.Asn96Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286A>T|p.Asp96Tyr|518/7270|286/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256900 brca1:p.D96N C T . . CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.286G>A|ENSP00000350283.3:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.34G>A|ENSP00000419481.1:p.Asp12Asn||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.145G>A|ENSP00000418775.1:p.Asp49Asn||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.145G>A|ENSP00000418819.1:p.Asp49Asn||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.933)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.286G>A|ENSP00000418960.2:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.208G>A|ENSP00000420781.1:p.Asp70Asn||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.286G>A|ENSP00000419103.1:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|possibly_damaging(0.821)|1/4|||ENST00000473961.1:c.9G>A|ENSP00000420201.1:p.Asp4Asn||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.286G>A|ENSP00000417148.1:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.286G>A|ENSP00000419274.1:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.893)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.286G>A|ENSP00000246907.4:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.977)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.208G>A|ENSP00000419988.1:p.Asp70Asn||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.286G>A|ENSP00000326002.6:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.286G>A|ENSP00000420412.1:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.286G>A|ENSP00000417554.1:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.728)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.286G>A|ENSP00000312236.5:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.286G>A|ENSP00000338007.3:p.Asp96Asn||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.995)|1/7|||ENST00000487825.1:c.34G>A|ENSP00000418212.1:p.Asp12Asn||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|D/N|Gac/Aac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.286G>A|ENSP00000420705.2:p.Asp96Asn||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286G>A|p.Asp96Asn|518/7270|286/5655|96/1884|| chr17 41256900 brca1:p.D96R T C . . OLD_CLUMPED=chr17:41256900:TC/CG;CSQ=C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asn70Asp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Asn12Asp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Asn49Asp||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Asn49Asp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Asn12Asp||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asn70Asp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||ENSP00000420201.1:p.Asn4Asp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asn96Asp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|N/D|Aac/Gac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asn96Asp||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286A>G|p.Asp96Asp|518/7270|286/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256900 brca1:p.D96T T G . . OLD_CLUMPED=chr17:41256900:TC/GT;CSQ=G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.286G>C|ENSP00000419103.1:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.208G>C|ENSP00000420781.1:p.Asn70His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.286G>C|ENSP00000418960.2:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.145G>C|ENSP00000418819.1:p.Asn49His||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.145G>C|ENSP00000418775.1:p.Asn49His||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.34G>C|ENSP00000419481.1:p.Asn12His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.286G>C|ENSP00000350283.3:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.286G>C|ENSP00000420705.2:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.34G>C|ENSP00000418212.1:p.Asn12His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.286G>C|ENSP00000338007.3:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.934)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.286G>C|ENSP00000312236.5:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.286G>C|ENSP00000417554.1:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.286G>C|ENSP00000420412.1:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.286G>C|ENSP00000326002.6:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.208G>C|ENSP00000419988.1:p.Asn70His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.286G>C|ENSP00000246907.4:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.286G>C|ENSP00000419274.1:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.286G>C|ENSP00000417148.1:p.Asn96His||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|N/H|Aac/Cac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.958)|1/4|||ENST00000473961.1:c.9G>C|ENSP00000420201.1:p.Asn4His||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286A>C|p.Asp96His|518/7270|286/5655|96/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256900 brca1:p.D96Y C A . . CSQ=A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|34|34|12|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.34G>T|ENSP00000419481.1:p.Asp12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|405|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.286G>T|ENSP00000350283.3:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|377|145|49|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.145G>T|ENSP00000418775.1:p.Asp49Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|377|145|49|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.145G>T|ENSP00000418819.1:p.Asp49Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|518|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.286G>T|ENSP00000418960.2:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|367|208|70|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.208G>T|ENSP00000420781.1:p.Asp70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|479|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.286G>T|ENSP00000419103.1:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|447|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.286G>T|ENSP00000419274.1:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|480|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.286G>T|ENSP00000246907.4:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|321|208|70|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.208G>T|ENSP00000419988.1:p.Asp70Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|9|10|4|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.944)|1/4|||ENST00000473961.1:c.9G>T|ENSP00000420201.1:p.Asp4Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|480|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.286G>T|ENSP00000417148.1:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|388|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.286G>T|ENSP00000420412.1:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|388|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.286G>T|ENSP00000417554.1:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|518|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.286G>T|ENSP00000326002.6:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|518|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.934)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.286G>T|ENSP00000312236.5:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|305|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.286G>T|ENSP00000338007.3:p.Asp96Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|34|34|12|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.34G>T|ENSP00000418212.1:p.Asp12Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|385|286|96|D/Y|Gac/Tac|rs80357110&CM041691||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.286G>T|ENSP00000420705.2:p.Asp96Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.286G>T|p.Asp96Tyr|518/7270|286/5655|96/1884|| chr17 41256901 brca1:p.D96C C A . . OLD_CLUMPED=chr17:41256900:TC/CA;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|304|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|33|33|11|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|384|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|517|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|387|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|387|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|517|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|479|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|446|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|320|207|69|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|8|9|3|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|479|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|517|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|366|207|69|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|478|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|376|144|48|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|376|144|48|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|33|33|11|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|404|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.285G>T|p.Leu95Leu|517/7270|285/5655|95/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256901 brca1:p.D96F C A . . OLD_CLUMPED=chr17:41256900:TC/AA;CSQ=A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|387|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|387|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|517|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|446|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|479|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|320|207|69|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|8|9|3|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|479|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|304|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|33|33|11|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|384|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|517|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|376|144|48|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|376|144|48|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|33|33|11|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|404|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|517|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|366|207|69|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|478|285|95|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.285G>T|p.Leu95Leu|517/7270|285/5655|95/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256901 brca1:p.D96I C T . . OLD_CLUMPED=chr17:41256900:TC/AT;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|384|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.285T>A|ENST00000491747.2:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|33|33|11|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.33T>A|ENST00000487825.1:c.33T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|304|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.285T>A|ENST00000351666.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|517|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.285T>A|ENST00000352993.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|387|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.285T>A|ENST00000476777.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|387|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.285T>A|ENST00000478531.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|517|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.285T>A|ENST00000354071.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|320|207|69|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.207T>A|ENST00000477152.1:c.207T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|446|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.285T>A|ENST00000470026.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|479|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.285T>A|ENST00000346315.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|479|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.285T>A|ENST00000468300.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|8|9|3|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.8T>A|ENST00000473961.1:c.8T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|366|207|69|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.207T>A|ENST00000489037.1:c.207T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|478|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.285T>A|ENST00000494123.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|517|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.285T>A|ENST00000471181.2:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|376|144|48|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.144T>A|ENST00000493795.1:c.144T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|376|144|48|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.144T>A|ENST00000493919.1:c.144T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|33|33|11|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.33T>A|ENST00000484087.1:c.33T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|404|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.285T>A|ENST00000357654.3:c.285T>A(p.%3D)||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.285G>A|p.Leu95Leu|517/7270|285/5655|95/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256901 brca1:p.D96L C G . . OLD_CLUMPED=chr17:41256900:TC/AG;CSQ=G|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|33|33|11|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.33T>C|ENST00000484087.1:c.33T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|404|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.285T>C|ENST00000357654.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|376|144|48|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.144T>C|ENST00000493795.1:c.144T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|376|144|48|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.144T>C|ENST00000493919.1:c.144T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|366|207|69|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.207T>C|ENST00000489037.1:c.207T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|478|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.285T>C|ENST00000494123.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|517|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.285T>C|ENST00000471181.2:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|320|207|69|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.207T>C|ENST00000477152.1:c.207T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|446|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.285T>C|ENST00000470026.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|479|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.285T>C|ENST00000346315.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|479|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.285T>C|ENST00000468300.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|8|9|3|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.8T>C|ENST00000473961.1:c.8T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|387|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.285T>C|ENST00000476777.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|387|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.285T>C|ENST00000478531.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|517|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.285T>C|ENST00000354071.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|517|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.285T>C|ENST00000352993.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|384|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.285T>C|ENST00000491747.2:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|304|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.285T>C|ENST00000351666.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|33|33|11|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.33T>C|ENST00000487825.1:c.33T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.285G>C|p.Leu95Leu|517/7270|285/5655|95/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256901 brca1:p.D96R C G . . OLD_CLUMPED=chr17:41256900:TC/CG;CSQ=G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|376|144|48|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.144T>C|ENST00000493795.1:c.144T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|376|144|48|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.144T>C|ENST00000493919.1:c.144T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|33|33|11|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.33T>C|ENST00000484087.1:c.33T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|404|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.285T>C|ENST00000357654.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|366|207|69|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.207T>C|ENST00000489037.1:c.207T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|478|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.285T>C|ENST00000494123.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|517|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.285T>C|ENST00000471181.2:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|387|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.285T>C|ENST00000476777.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|387|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.285T>C|ENST00000478531.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|517|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.285T>C|ENST00000354071.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|320|207|69|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.207T>C|ENST00000477152.1:c.207T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|479|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.285T>C|ENST00000346315.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|446|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.285T>C|ENST00000470026.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|479|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.285T>C|ENST00000468300.1:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|8|9|3|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.8T>C|ENST00000473961.1:c.8T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|384|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.285T>C|ENST00000491747.2:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|304|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.285T>C|ENST00000351666.3:c.285T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|33|33|11|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.33T>C|ENST00000487825.1:c.33T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|517|285|95|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.285T>C|ENST00000352993.3:c.285T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.285G>C|p.Leu95Leu|517/7270|285/5655|95/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256901 brca1:p.D96T C T . . OLD_CLUMPED=chr17:41256900:TC/GT;CSQ=T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|366|207|69|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.207T>A|ENST00000489037.1:c.207T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|478|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.285T>A|ENST00000494123.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|517|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.285T>A|ENST00000471181.2:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|404|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.285T>A|ENST00000357654.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|33|33|11|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.33T>A|ENST00000484087.1:c.33T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|376|144|48|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.144T>A|ENST00000493919.1:c.144T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|376|144|48|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.144T>A|ENST00000493795.1:c.144T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|517|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.285T>A|ENST00000352993.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|384|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.285T>A|ENST00000491747.2:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|304|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.285T>A|ENST00000351666.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|33|33|11|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.33T>A|ENST00000487825.1:c.33T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|479|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.285T>A|ENST00000468300.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000473961|Transcript|synonymous_variant|8|9|3|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.8T>A|ENST00000473961.1:c.8T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|320|207|69|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.207T>A|ENST00000477152.1:c.207T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|479|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.285T>A|ENST00000346315.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|446|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.285T>A|ENST00000470026.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|517|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.285T>A|ENST00000354071.3:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|387|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.285T>A|ENST00000476777.1:c.285T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|387|285|95|L|ctG/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.285T>A|ENST00000478531.1:c.285T>A(p.%3D)||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.285G>A|p.Leu95Leu|517/7270|285/5655|95/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256902 brca1:p.L95P A G . . CSQ=G|ENSG00000012048|ENST00000473961|Transcript|missense_variant|7|8|3|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|probably_damaging(0.943)|1/4|||ENST00000473961.1:c.7T>C|ENSP00000420201.1:p.Leu3Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|478|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.983)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.284T>C|ENSP00000417148.1:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|445|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.284T>C|ENSP00000419274.1:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|478|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.979)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.284T>C|ENSP00000246907.4:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|319|206|69|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.206T>C|ENSP00000419988.1:p.Leu69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|516|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.284T>C|ENSP00000326002.6:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|386|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.284T>C|ENSP00000420412.1:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|386|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.04)|probably_damaging(0.966)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.284T>C|ENSP00000417554.1:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|516|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.284T>C|ENSP00000312236.5:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|303|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.284T>C|ENSP00000338007.3:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|32|32|11|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.32T>C|ENSP00000418212.1:p.Leu11Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|383|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.284T>C|ENSP00000420705.2:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|403|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.284T>C|ENSP00000350283.3:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|32|32|11|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.32T>C|ENSP00000419481.1:p.Leu11Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|375|143|48|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.143T>C|ENSP00000418775.1:p.Leu48Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|375|143|48|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.996)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.143T>C|ENSP00000418819.1:p.Leu48Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|516|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.961)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.284T>C|ENSP00000418960.2:p.Leu95Pro||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|365|206|69|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.11)|probably_damaging(0.998)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.206T>C|ENSP00000420781.1:p.Leu69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|477|284|95|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.284T>C|ENSP00000419103.1:p.Leu95Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.284T>C|p.Leu95Pro|516/7270|284/5655|95/1884|| chr17 41256903 brca1:p.L95N A T . . OLD_CLUMPED=chr17:41256903:AG/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|402|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.283C>A|ENSP00000350283.3:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|31|31|11|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.31C>A|ENSP00000419481.1:p.Phe11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|374|142|48|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.142C>A|ENSP00000418775.1:p.Phe48Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|374|142|48|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.27)|possibly_damaging(0.86)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.142C>A|ENSP00000418819.1:p.Phe48Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|515|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.432)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.283C>A|ENSP00000418960.2:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|364|205|69|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.36)|probably_damaging(0.989)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.205C>A|ENSP00000420781.1:p.Phe69Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|476|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.283C>A|ENSP00000419103.1:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000473961|Transcript|missense_variant|6|7|3|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|possibly_damaging(0.828)|1/4|||ENST00000473961.1:c.6C>A|ENSP00000420201.1:p.Phe3Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|477|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.32)|probably_damaging(0.914)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.283C>A|ENSP00000417148.1:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|444|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.283C>A|ENSP00000419274.1:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|477|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.718)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.283C>A|ENSP00000246907.4:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|318|205|69|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.205C>A|ENSP00000419988.1:p.Phe69Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|515|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.283C>A|ENSP00000326002.6:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|385|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.24)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.283C>A|ENSP00000420412.1:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|385|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.24)|benign(0.267)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.283C>A|ENSP00000417554.1:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|515|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.34)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.283C>A|ENSP00000312236.5:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|302|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.28)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.283C>A|ENSP00000338007.3:p.Phe95Ile||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|31|31|11|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.31C>A|ENSP00000418212.1:p.Phe11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|382|283|95|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.23)|probably_damaging(0.995)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.283C>A|ENSP00000420705.2:p.Phe95Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.283T>A|p.Leu95Ile|515/7270|283/5655|95/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256904 brca1:p.L95N G T . . OLD_CLUMPED=chr17:41256903:AG/TT;CSQ=T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|301|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.282G>A|ENSP00000338007.3:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|30|30|10|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.30G>A|ENSP00000418212.1:p.His10Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|381|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.282G>A|ENSP00000420705.2:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|514|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.282G>A|ENSP00000312236.5:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|514|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.282G>A|ENSP00000326002.6:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|384|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.282G>A|ENSP00000420412.1:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|384|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.282G>A|ENSP00000417554.1:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000473961|Transcript|missense_variant|5|6|2|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.5G>A|ENSP00000420201.1:p.His2Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|476|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.282G>A|ENSP00000417148.1:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|443|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.282G>A|ENSP00000419274.1:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|476|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.282G>A|ENSP00000246907.4:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|317|204|68|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.204G>A|ENSP00000419988.1:p.His68Gln||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|514|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.282G>A|ENSP00000418960.2:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|363|204|68|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.204G>A|ENSP00000420781.1:p.His68Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|475|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.282G>A|ENSP00000419103.1:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|373|141|47|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.141G>A|ENSP00000418775.1:p.His47Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|373|141|47|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.141G>A|ENSP00000418819.1:p.His47Gln||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|401|282|94|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.282G>A|ENSP00000350283.3:p.His94Gln||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|30|30|10|H/Q|caC/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.30G>A|ENSP00000419481.1:p.His10Gln||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.282C>A|p.Gln94Gln|514/7270|282/5655|94/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256905 brca1:p.Q94L T A . . CSQ=A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|300|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.281A>T|ENSP00000338007.3:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|29|29|10|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|benign(0.107)|1/7|||ENST00000487825.1:c.29A>T|ENSP00000418212.1:p.Gln10Leu||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|380|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|benign(0.173)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.281A>T|ENSP00000420705.2:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|513|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.145)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.281A>T|ENSP00000312236.5:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|383|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.281A>T|ENSP00000420412.1:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|383|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|benign(0.021)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.281A>T|ENSP00000417554.1:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|513|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.542)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.281A>T|ENSP00000326002.6:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|442|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|benign(0.065)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.281A>T|ENSP00000419274.1:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|475|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.003)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.281A>T|ENSP00000246907.4:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|316|203|68|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.01)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.203A>T|ENSP00000419988.1:p.Gln68Leu||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|missense_variant|4|5|2|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|benign(0.051)|1/4|||ENST00000473961.1:c.4A>T|ENSP00000420201.1:p.Gln2Leu||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|475|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|benign(0.084)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.281A>T|ENSP00000417148.1:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|513|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.281A>T|ENSP00000418960.2:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|362|203|68|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|benign(0.091)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.203A>T|ENSP00000420781.1:p.Gln68Leu||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|474|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|benign(0.065)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.281A>T|ENSP00000419103.1:p.Gln94Leu||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|372|140|47|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|benign(0.084)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.140A>T|ENSP00000418819.1:p.Gln47Leu||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|372|140|47|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|benign(0.065)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.140A>T|ENSP00000418775.1:p.Gln47Leu||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|29|29|10|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0.01)|benign(0.18)|1/12|||ENST00000484087.1:c.29A>T|ENSP00000419481.1:p.Gln10Leu||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|400|281|94|Q/L|cAg/cTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|benign(0.065)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.281A>T|ENSP00000350283.3:p.Gln94Leu||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.281A>T|p.Gln94Leu|513/7270|281/5655|94/1884|| chr17 41256906 brca1:p.Q94K G T . . CSQ=T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|473|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|benign(0.014)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.280C>A|ENSP00000419103.1:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|361|202|68|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|benign(0.028)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.202C>A|ENSP00000420781.1:p.Gln68Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|512|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.009)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.280C>A|ENSP00000418960.2:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|399|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|benign(0.014)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.280C>A|ENSP00000350283.3:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|28|28|10|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0.03)|benign(0.044)|1/12|||ENST00000484087.1:c.28C>A|ENSP00000419481.1:p.Gln10Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|371|139|47|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.02)|benign(0.019)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.139C>A|ENSP00000418819.1:p.Gln47Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|371|139|47|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|benign(0.014)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.139C>A|ENSP00000418775.1:p.Gln47Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|512|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|benign(0.092)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.280C>A|ENSP00000312236.5:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|379|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|benign(0.043)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.280C>A|ENSP00000420705.2:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|299|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.280C>A|ENSP00000338007.3:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|28|28|10|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.01)|benign(0.025)|1/7|||ENST00000487825.1:c.28C>A|ENSP00000418212.1:p.Gln10Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|474|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|benign(0.019)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.280C>A|ENSP00000417148.1:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000473961|Transcript|missense_variant|3|4|2|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|deleterious(0)|benign(0.011)|1/4|||ENST00000473961.1:c.3C>A|ENSP00000420201.1:p.Gln2Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|315|202|68|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.003)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.202C>A|ENSP00000419988.1:p.Gln68Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|441|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|benign(0.014)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.280C>A|ENSP00000419274.1:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|474|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.021)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.280C>A|ENSP00000246907.4:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|512|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.247)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.280C>A|ENSP00000326002.6:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|382|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|benign(0.004)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.280C>A|ENSP00000417554.1:p.Gln94Lys|||||||||1|||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|382|280|94|Q/K|Cag/Aag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.280C>A|ENSP00000420412.1:p.Gln94Lys|||||||||1|||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.280C>A|p.Gln94Lys|512/7270|280/5655|94/1884|| chr17 41256906 brca1:p.Q94W T C . . OLD_CLUMPED=chr17:41256906:TG/CA;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|399|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(1)|benign(0)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.280C>G|ENSP00000350283.3:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|28|28|10|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(1)|benign(0.001)|1/12|||ENST00000484087.1:c.28C>G|ENSP00000419481.1:p.Lys10Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|371|139|47|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(1)|benign(0)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.139C>G|ENSP00000418775.1:p.Lys47Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|371|139|47|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(1)|benign(0)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.139C>G|ENSP00000418819.1:p.Lys47Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|512|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(1)|benign(0)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.280C>G|ENSP00000418960.2:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|361|202|68|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(1)|benign(0.001)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.202C>G|ENSP00000420781.1:p.Lys68Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|473|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(1)|benign(0)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.280C>G|ENSP00000419103.1:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000473961|Transcript|missense_variant|3|4|2|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|tolerated(1)|benign(0)|1/4|||ENST00000473961.1:c.3C>G|ENSP00000420201.1:p.Lys2Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|474|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(1)|benign(0)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.280C>G|ENSP00000417148.1:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|441|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(1)|benign(0)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.280C>G|ENSP00000419274.1:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|474|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(1)|benign(0)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.280C>G|ENSP00000246907.4:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|315|202|68|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(1)|benign(0)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.202C>G|ENSP00000419988.1:p.Lys68Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|512|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(1)|benign(0.013)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.280C>G|ENSP00000326002.6:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|382|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(1)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.280C>G|ENSP00000420412.1:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|382|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(1)|benign(0)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.280C>G|ENSP00000417554.1:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|512|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(1)|benign(0.092)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.280C>G|ENSP00000312236.5:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|299|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(1)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.280C>G|ENSP00000338007.3:p.Lys94Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|28|28|10|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|tolerated(1)|benign(0)|1/7|||ENST00000487825.1:c.28C>G|ENSP00000418212.1:p.Lys10Glu|||||||||1|||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|379|280|94|K/E|Aag/Gag|COSM706218||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(1)|benign(0.001)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.280C>G|ENSP00000420705.2:p.Lys94Glu|||||||||1|||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.280A>G|p.Gln94Glu|512/7270|280/5655|94/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256907 brca1:p.Q94W G A . . OLD_CLUMPED=chr17:41256906:TG/CA;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|511|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|298|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|27|27|9|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|378|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000473961|Transcript|coding_sequence_variant|2|3|1|X|ntC/ntT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4||||||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|473|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|440|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|473|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|314|201|67|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|511|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|381|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|381|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|511|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|360|201|67|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|472|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|398|279|93|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|27|27|9|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|370|138|46|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|370|138|46|F|ttC/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.279C>T|p.Phe93Phe|511/7270|279/5655|93/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256908 brca1:p.F93C A C . . CSQ=C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|26|26|9|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.26T>G|ENSP00000419481.1:p.Phe9Cys||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|397|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.278T>G|ENSP00000350283.3:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|369|137|46|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.137T>G|ENSP00000418819.1:p.Phe46Cys||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|369|137|46|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.137T>G|ENSP00000418775.1:p.Phe46Cys||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|510|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.971)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.278T>G|ENSP00000418960.2:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|471|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.278T>G|ENSP00000419103.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|359|200|67|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.200T>G|ENSP00000420781.1:p.Phe67Cys||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|472|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.922)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.278T>G|ENSP00000246907.4:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|439|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.278T>G|ENSP00000419274.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|313|200|67|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.984)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.200T>G|ENSP00000419988.1:p.Phe67Cys||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|coding_sequence_variant|1|2|1|X|nTt/nGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.1T>G|ENST00000473961.1:c.1T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|472|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.995)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.278T>G|ENSP00000417148.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|380|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.278T>G|ENSP00000420412.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|380|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.278T>G|ENSP00000417554.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|510|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.995)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.278T>G|ENSP00000326002.6:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|510|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.878)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.278T>G|ENSP00000312236.5:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|297|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.278T>G|ENSP00000338007.3:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|26|26|9|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.997)|1/7|||ENST00000487825.1:c.26T>G|ENSP00000418212.1:p.Phe9Cys||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|377|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.278T>G|ENSP00000420705.2:p.Phe93Cys||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.278T>G|p.Phe93Cys|510/7270|278/5655|93/1884|| chr17 41256908 brca1:p.F93S A G . . CSQ=G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|369|137|46|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.137T>C|ENSP00000418775.1:p.Phe46Ser||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|369|137|46|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.137T>C|ENSP00000418819.1:p.Phe46Ser||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|26|26|9|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.26T>C|ENSP00000419481.1:p.Phe9Ser||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|397|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.278T>C|ENSP00000350283.3:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|510|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.9)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.278T>C|ENSP00000418960.2:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|471|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.278T>C|ENSP00000419103.1:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|359|200|67|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.200T>C|ENSP00000420781.1:p.Phe67Ser||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|380|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.278T>C|ENSP00000420412.1:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|380|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.278T>C|ENSP00000417554.1:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|510|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.278T>C|ENSP00000326002.6:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|439|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.278T>C|ENSP00000419274.1:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|472|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.391)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.278T>C|ENSP00000246907.4:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|313|200|67|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.969)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.200T>C|ENSP00000419988.1:p.Phe67Ser||||||||||||||||||,G|ENSG00000012048|ENST00000473961|Transcript|coding_sequence_variant|1|2|1|X|nTt/nCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.1T>C|ENST00000473961.1:c.1T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|472|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.986)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.278T>C|ENSP00000417148.1:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|297|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.278T>C|ENSP00000338007.3:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|26|26|9|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.994)|1/7|||ENST00000487825.1:c.26T>C|ENSP00000418212.1:p.Phe9Ser||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|377|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.278T>C|ENSP00000420705.2:p.Phe93Ser||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|510|278|93|F/S|tTt/tCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.278T>C|ENSP00000312236.5:p.Phe93Ser||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.278T>C|p.Phe93Ser|510/7270|278/5655|93/1884|| chr17 41256908 brca1:p.F93W A C . . OLD_CLUMPED=chr17:41256908:AA/CC;CSQ=C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|380|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.278T>G|ENSP00000420412.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|380|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.278T>G|ENSP00000417554.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|510|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.995)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.278T>G|ENSP00000326002.6:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|472|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.922)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.278T>G|ENSP00000246907.4:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|439|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.278T>G|ENSP00000419274.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|313|200|67|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.984)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.200T>G|ENSP00000419988.1:p.Phe67Cys||||||||||||||||||,C|ENSG00000012048|ENST00000473961|Transcript|coding_sequence_variant|1|2|1|X|nTt/nGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420201||Q4EW25_HUMAN&K4K7U9_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN|UPI0001B7908A|||1/4|||ENST00000473961.1:c.1T>G|ENST00000473961.1:c.1T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|472|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.995)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.278T>G|ENSP00000417148.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|297|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.278T>G|ENSP00000338007.3:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|26|26|9|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.997)|1/7|||ENST00000487825.1:c.26T>G|ENSP00000418212.1:p.Phe9Cys||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|377|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.278T>G|ENSP00000420705.2:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|510|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.878)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.278T>G|ENSP00000312236.5:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|369|137|46|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.137T>G|ENSP00000418775.1:p.Phe46Cys||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|369|137|46|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.137T>G|ENSP00000418819.1:p.Phe46Cys||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|26|26|9|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.26T>G|ENSP00000419481.1:p.Phe9Cys||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|397|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.278T>G|ENSP00000350283.3:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|510|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.971)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.278T>G|ENSP00000418960.2:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|471|278|93|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.278T>G|ENSP00000419103.1:p.Phe93Cys||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|359|200|67|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.200T>G|ENSP00000420781.1:p.Phe67Cys||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.278T>G|p.Phe93Cys|510/7270|278/5655|93/1884|| chr17 41256909 brca1:p.F93W A C . . OLD_CLUMPED=chr17:41256908:AA/CC;CSQ=C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|368|136|46|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.136T>G|ENSP00000418775.1:p.Phe46Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|368|136|46|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.136T>G|ENSP00000418819.1:p.Phe46Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|396|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.277T>G|ENSP00000350283.3:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|25|25|9|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.25T>G|ENSP00000419481.1:p.Phe9Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.919)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.277T>G|ENSP00000418960.2:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|358|199|67|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.199T>G|ENSP00000420781.1:p.Phe67Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|470|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.277T>G|ENSP00000419103.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.979)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.277T>G|ENSP00000326002.6:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|379|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.277T>G|ENSP00000420412.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|379|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.97)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.277T>G|ENSP00000417554.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|471|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|possibly_damaging(0.782)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.277T>G|ENSP00000417148.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|438|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.277T>G|ENSP00000419274.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|471|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.476)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.277T>G|ENSP00000246907.4:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|312|199|67|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.932)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.199T>G|ENSP00000419988.1:p.Phe67Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|296|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.277T>G|ENSP00000338007.3:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|25|25|9|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.986)|1/7|||ENST00000487825.1:c.25T>G|ENSP00000418212.1:p.Phe9Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|376|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.277T>G|ENSP00000420705.2:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.277T>G|ENSP00000312236.5:p.Phe93Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.277T>G|p.Phe93Val|509/7270|277/5655|93/1884|| chr17 41256909 brca1:p.F93D A T . . OLD_CLUMPED=chr17:41256909:AA/TC;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|509|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.277T>A|ENSP00000312236.5:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|25|25|9|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.25T>A|ENSP00000418212.1:p.Phe9Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|296|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.277T>A|ENSP00000338007.3:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|376|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.277T>A|ENSP00000420705.2:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|471|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.965)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.277T>A|ENSP00000417148.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|438|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.277T>A|ENSP00000419274.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|471|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.798)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.277T>A|ENSP00000246907.4:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|312|199|67|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.95)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.199T>A|ENSP00000419988.1:p.Phe67Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|509|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.985)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.277T>A|ENSP00000326002.6:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|379|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.277T>A|ENSP00000420412.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|379|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.986)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.277T>A|ENSP00000417554.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|509|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.943)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.277T>A|ENSP00000418960.2:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|358|199|67|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.13)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.199T>A|ENSP00000420781.1:p.Phe67Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|470|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.277T>A|ENSP00000419103.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|396|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.277T>A|ENSP00000350283.3:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|25|25|9|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.25T>A|ENSP00000419481.1:p.Phe9Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|368|136|46|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.136T>A|ENSP00000418775.1:p.Phe46Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|368|136|46|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.136T>A|ENSP00000418819.1:p.Phe46Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.277T>A|p.Phe93Ile|509/7270|277/5655|93/1884|| chr17 41256909 brca1:p.F93G A C . . OLD_CLUMPED=chr17:41256909:AA/CC;CSQ=C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|438|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.277T>G|ENSP00000419274.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|471|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.476)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.277T>G|ENSP00000246907.4:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|312|199|67|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.932)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.199T>G|ENSP00000419988.1:p.Phe67Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|471|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|possibly_damaging(0.782)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.277T>G|ENSP00000417148.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|379|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.277T>G|ENSP00000420412.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|379|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.97)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.277T>G|ENSP00000417554.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.979)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.277T>G|ENSP00000326002.6:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.277T>G|ENSP00000312236.5:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|296|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.277T>G|ENSP00000338007.3:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|25|25|9|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.986)|1/7|||ENST00000487825.1:c.25T>G|ENSP00000418212.1:p.Phe9Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|376|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.277T>G|ENSP00000420705.2:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|25|25|9|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.25T>G|ENSP00000419481.1:p.Phe9Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|396|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.277T>G|ENSP00000350283.3:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|368|136|46|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.136T>G|ENSP00000418775.1:p.Phe46Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|368|136|46|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.136T>G|ENSP00000418819.1:p.Phe46Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.919)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.277T>G|ENSP00000418960.2:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|358|199|67|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.199T>G|ENSP00000420781.1:p.Phe67Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|470|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.277T>G|ENSP00000419103.1:p.Phe93Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.277T>G|p.Phe93Val|509/7270|277/5655|93/1884|| chr17 41256909 brca1:p.F93N A T . . OLD_CLUMPED=chr17:41256909:AA/TT;CSQ=T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|312|199|67|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.95)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.199T>A|ENSP00000419988.1:p.Phe67Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|471|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.798)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.277T>A|ENSP00000246907.4:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|438|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.277T>A|ENSP00000419274.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|471|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.965)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.277T>A|ENSP00000417148.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|379|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.986)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.277T>A|ENSP00000417554.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|379|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.277T>A|ENSP00000420412.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|509|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.985)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.277T>A|ENSP00000326002.6:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|509|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.277T>A|ENSP00000312236.5:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|376|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.277T>A|ENSP00000420705.2:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|25|25|9|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.25T>A|ENSP00000418212.1:p.Phe9Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|296|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.277T>A|ENSP00000338007.3:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|25|25|9|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.25T>A|ENSP00000419481.1:p.Phe9Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|396|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.277T>A|ENSP00000350283.3:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|368|136|46|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.136T>A|ENSP00000418819.1:p.Phe46Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|368|136|46|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.136T>A|ENSP00000418775.1:p.Phe46Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|358|199|67|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.13)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.199T>A|ENSP00000420781.1:p.Phe67Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|470|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.277T>A|ENSP00000419103.1:p.Phe93Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|509|277|93|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.943)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.277T>A|ENSP00000418960.2:p.Phe93Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.277T>A|p.Phe93Ile|509/7270|277/5655|93/1884|| chr17 41256909 brca1:p.F93P A G . . OLD_CLUMPED=chr17:41256909:AA/GG;CSQ=G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|438|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.277T>C|ENSP00000419274.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|471|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.449)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.277T>C|ENSP00000246907.4:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|312|199|67|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|possibly_damaging(0.899)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.199T>C|ENSP00000419988.1:p.Phe67Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|471|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.952)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.277T>C|ENSP00000417148.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|379|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.277T>C|ENSP00000420412.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|379|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.984)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.277T>C|ENSP00000417554.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|509|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.277T>C|ENSP00000326002.6:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|509|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|benign(0.294)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.277T>C|ENSP00000312236.5:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|296|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.277T>C|ENSP00000338007.3:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|25|25|9|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.979)|1/7|||ENST00000487825.1:c.25T>C|ENSP00000418212.1:p.Phe9Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|376|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.277T>C|ENSP00000420705.2:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|25|25|9|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.998)|1/12|||ENST00000484087.1:c.25T>C|ENSP00000419481.1:p.Phe9Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|396|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.277T>C|ENSP00000350283.3:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|368|136|46|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.996)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.136T>C|ENSP00000418819.1:p.Phe46Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|368|136|46|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.136T>C|ENSP00000418775.1:p.Phe46Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|509|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.832)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.277T>C|ENSP00000418960.2:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|358|199|67|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.199T>C|ENSP00000420781.1:p.Phe67Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|470|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.277T>C|ENSP00000419103.1:p.Phe93Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.277T>C|p.Phe93Leu|509/7270|277/5655|93/1884|| chr17 41256909 brca1:p.F93R A C . . OLD_CLUMPED=chr17:41256909:AA/CG;CSQ=C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|368|136|46|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.136T>G|ENSP00000418819.1:p.Phe46Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|368|136|46|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.136T>G|ENSP00000418775.1:p.Phe46Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|25|25|9|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.25T>G|ENSP00000419481.1:p.Phe9Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|396|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.277T>G|ENSP00000350283.3:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|470|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.277T>G|ENSP00000419103.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|358|199|67|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.199T>G|ENSP00000420781.1:p.Phe67Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.919)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.277T>G|ENSP00000418960.2:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|379|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.97)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.277T>G|ENSP00000417554.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|379|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.277T>G|ENSP00000420412.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.979)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.277T>G|ENSP00000326002.6:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|312|199|67|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.932)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.199T>G|ENSP00000419988.1:p.Phe67Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|438|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.277T>G|ENSP00000419274.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|471|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.476)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.277T>G|ENSP00000246907.4:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|471|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|possibly_damaging(0.782)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.277T>G|ENSP00000417148.1:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|376|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.277T>G|ENSP00000420705.2:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|296|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.277T>G|ENSP00000338007.3:p.Phe93Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|25|25|9|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.986)|1/7|||ENST00000487825.1:c.25T>G|ENSP00000418212.1:p.Phe9Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|509|277|93|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.277T>G|ENSP00000312236.5:p.Phe93Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.277T>G|p.Phe93Val|509/7270|277/5655|93/1884|| chr17 41256909 brca1:p.F93T A G . . OLD_CLUMPED=chr17:41256909:AA/GT;CSQ=G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|312|199|67|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|possibly_damaging(0.899)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.199T>C|ENSP00000419988.1:p.Phe67Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|471|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.449)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.277T>C|ENSP00000246907.4:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|438|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.277T>C|ENSP00000419274.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|471|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.952)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.277T>C|ENSP00000417148.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|379|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.984)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.277T>C|ENSP00000417554.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|379|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.277T>C|ENSP00000420412.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|509|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.277T>C|ENSP00000326002.6:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|509|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|benign(0.294)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.277T>C|ENSP00000312236.5:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|376|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.277T>C|ENSP00000420705.2:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|296|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.277T>C|ENSP00000338007.3:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|25|25|9|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.979)|1/7|||ENST00000487825.1:c.25T>C|ENSP00000418212.1:p.Phe9Leu||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|25|25|9|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.998)|1/12|||ENST00000484087.1:c.25T>C|ENSP00000419481.1:p.Phe9Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|396|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.277T>C|ENSP00000350283.3:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|368|136|46|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.136T>C|ENSP00000418775.1:p.Phe46Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|368|136|46|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.996)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.136T>C|ENSP00000418819.1:p.Phe46Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|470|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.277T>C|ENSP00000419103.1:p.Phe93Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|358|199|67|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.199T>C|ENSP00000420781.1:p.Phe67Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|509|277|93|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.832)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.277T>C|ENSP00000418960.2:p.Phe93Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.277T>C|p.Phe93Leu|509/7270|277/5655|93/1884|| chr17 41256910 brca1:p.F93D A C . . OLD_CLUMPED=chr17:41256909:AA/TC;CSQ=C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|378|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.276T>G|ENST00000476777.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|378|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.276T>G|ENST00000478531.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|508|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.276T>G|ENST00000354071.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|311|198|66|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.198T>G|ENST00000477152.1:c.198T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|470|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.276T>G|ENST00000346315.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|437|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.276T>G|ENST00000470026.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|470|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.276T>G|ENST00000468300.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|375|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.276T>G|ENST00000491747.2:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|295|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.276T>G|ENST00000351666.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|24|24|8|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.24T>G|ENST00000487825.1:c.24T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|508|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.276T>G|ENST00000352993.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|367|135|45|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.135T>G|ENST00000493795.1:c.135T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|367|135|45|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.135T>G|ENST00000493919.1:c.135T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|24|24|8|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.24T>G|ENST00000484087.1:c.24T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|395|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.276T>G|ENST00000357654.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|357|198|66|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.198T>G|ENST00000489037.1:c.198T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|469|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.276T>G|ENST00000494123.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|508|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.276T>G|ENST00000471181.2:c.276T>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.276T>G|p.Ala92Ala|508/7270|276/5655|92/1884|| chr17 41256910 brca1:p.F93G A C . . OLD_CLUMPED=chr17:41256909:AA/CC;CSQ=C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|295|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.276T>G|ENST00000351666.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|24|24|8|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.24T>G|ENST00000487825.1:c.24T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|375|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.276T>G|ENST00000491747.2:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|508|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.276T>G|ENST00000352993.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|378|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.276T>G|ENST00000478531.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|378|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.276T>G|ENST00000476777.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|508|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.276T>G|ENST00000354071.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|437|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.276T>G|ENST00000470026.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|470|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.276T>G|ENST00000346315.3:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|311|198|66|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.198T>G|ENST00000477152.1:c.198T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|470|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.276T>G|ENST00000468300.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|508|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.276T>G|ENST00000471181.2:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|357|198|66|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.198T>G|ENST00000489037.1:c.198T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|469|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.276T>G|ENST00000494123.1:c.276T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|367|135|45|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.135T>G|ENST00000493919.1:c.135T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|367|135|45|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.135T>G|ENST00000493795.1:c.135T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|24|24|8|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.24T>G|ENST00000484087.1:c.24T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|395|276|92|A|gcT/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.276T>G|ENST00000357654.3:c.276T>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.276T>G|p.Ala92Ala|508/7270|276/5655|92/1884|| chr17 41256910 brca1:p.F93N A T . . OLD_CLUMPED=chr17:41256909:AA/TT;CSQ=T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|470|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.276T>A|ENST00000468300.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|437|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.276T>A|ENST00000470026.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|470|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.276T>A|ENST00000346315.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|311|198|66|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.198T>A|ENST00000477152.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|508|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.276T>A|ENST00000354071.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|378|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.276T>A|ENST00000478531.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|378|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.276T>A|ENST00000476777.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|508|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.276T>A|ENST00000352993.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|295|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.276T>A|ENST00000351666.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|24|24|8|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.24T>A|ENST00000487825.1:c.24T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|375|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.276T>A|ENST00000491747.2:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|395|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.276T>A|ENST00000357654.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|24|24|8|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.24T>A|ENST00000484087.1:c.24T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|367|135|45|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.135T>A|ENST00000493795.1:c.135T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|367|135|45|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.135T>A|ENST00000493919.1:c.135T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|508|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.276T>A|ENST00000471181.2:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|357|198|66|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.198T>A|ENST00000489037.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|469|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.276T>A|ENST00000494123.1:c.276T>A(p.%3D)||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.276T>A|p.Ala92Ala|508/7270|276/5655|92/1884|| chr17 41256910 brca1:p.F93P A G . . OLD_CLUMPED=chr17:41256909:AA/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|508|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.276T>C|ENST00000471181.2:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|357|198|66|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.198T>C|ENST00000489037.1:c.198T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|469|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.276T>C|ENST00000494123.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|395|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.276T>C|ENST00000357654.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|24|24|8|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.24T>C|ENST00000484087.1:c.24T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|367|135|45|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.135T>C|ENST00000493795.1:c.135T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|367|135|45|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.135T>C|ENST00000493919.1:c.135T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|508|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.276T>C|ENST00000352993.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|295|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.276T>C|ENST00000351666.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|24|24|8|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.24T>C|ENST00000487825.1:c.24T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|375|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.276T>C|ENST00000491747.2:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|470|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.276T>C|ENST00000468300.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|437|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.276T>C|ENST00000470026.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|470|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.276T>C|ENST00000346315.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|311|198|66|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.198T>C|ENST00000477152.1:c.198T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|508|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.276T>C|ENST00000354071.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|378|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.276T>C|ENST00000478531.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|378|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.276T>C|ENST00000476777.1:c.276T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.276T>C|p.Ala92Ala|508/7270|276/5655|92/1884|| chr17 41256910 brca1:p.F93R A G . . OLD_CLUMPED=chr17:41256909:AA/CG;CSQ=G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|357|198|66|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.198T>C|ENST00000489037.1:c.198T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|469|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.276T>C|ENST00000494123.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|508|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.276T>C|ENST00000471181.2:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|367|135|45|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.135T>C|ENST00000493795.1:c.135T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|367|135|45|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.135T>C|ENST00000493919.1:c.135T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|24|24|8|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.24T>C|ENST00000484087.1:c.24T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|395|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.276T>C|ENST00000357654.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|375|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.276T>C|ENST00000491747.2:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|295|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.276T>C|ENST00000351666.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|24|24|8|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.24T>C|ENST00000487825.1:c.24T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|508|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.276T>C|ENST00000352993.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|378|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.276T>C|ENST00000476777.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|378|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.276T>C|ENST00000478531.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|508|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.276T>C|ENST00000354071.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|311|198|66|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.198T>C|ENST00000477152.1:c.198T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|470|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.276T>C|ENST00000346315.3:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|437|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.276T>C|ENST00000470026.1:c.276T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|470|276|92|A|gcT/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.276T>C|ENST00000468300.1:c.276T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.276T>C|p.Ala92Ala|508/7270|276/5655|92/1884|| chr17 41256910 brca1:p.F93T A T . . OLD_CLUMPED=chr17:41256909:AA/GT;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|375|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.276T>A|ENST00000491747.2:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|295|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.276T>A|ENST00000351666.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|24|24|8|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.24T>A|ENST00000487825.1:c.24T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|508|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.276T>A|ENST00000352993.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|378|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.276T>A|ENST00000476777.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|378|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.276T>A|ENST00000478531.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|508|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.276T>A|ENST00000354071.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|311|198|66|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.198T>A|ENST00000477152.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|470|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.276T>A|ENST00000346315.3:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|437|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.276T>A|ENST00000470026.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|470|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.276T>A|ENST00000468300.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|357|198|66|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.198T>A|ENST00000489037.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|469|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.276T>A|ENST00000494123.1:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|508|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.276T>A|ENST00000471181.2:c.276T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|367|135|45|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.135T>A|ENST00000493919.1:c.135T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|367|135|45|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.135T>A|ENST00000493795.1:c.135T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|24|24|8|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.24T>A|ENST00000484087.1:c.24T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|395|276|92|A|gcT/gcA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.276T>A|ENST00000357654.3:c.276T>A(p.%3D)||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.276T>A|p.Ala92Ala|508/7270|276/5655|92/1884|| chr17 41256911 brca1:p.A92G G C . . CSQ=C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|374|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.275C>G|ENSP00000420705.2:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|294|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.275C>G|ENSP00000338007.3:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|23|23|8|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.994)|1/7|||ENST00000487825.1:c.23C>G|ENSP00000418212.1:p.Ala8Gly||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|507|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.275C>G|ENSP00000312236.5:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|507|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.99)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.275C>G|ENSP00000326002.6:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|377|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.275C>G|ENSP00000417554.1:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|377|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.275C>G|ENSP00000420412.1:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|469|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.275C>G|ENSP00000417148.1:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|310|197|66|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.968)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.197C>G|ENSP00000419988.1:p.Ala66Gly||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|469|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.864)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.275C>G|ENSP00000246907.4:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|436|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.275C>G|ENSP00000419274.1:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|356|197|66|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.197C>G|ENSP00000420781.1:p.Ala66Gly||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|468|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.275C>G|ENSP00000419103.1:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|507|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.921)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.275C>G|ENSP00000418960.2:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|366|134|45|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.134C>G|ENSP00000418775.1:p.Ala45Gly||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|366|134|45|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.134C>G|ENSP00000418819.1:p.Ala45Gly||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|394|275|92|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.275C>G|ENSP00000350283.3:p.Ala92Gly||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|23|23|8|A/G|gCt/gGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.23C>G|ENSP00000419481.1:p.Ala8Gly||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.275C>G|p.Ala92Gly|507/7270|275/5655|92/1884|| chr17 41256911 brca1:p.A92V G A . . CSQ=A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|377|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.275C>T|ENSP00000420412.1:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|377|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.275C>T|ENSP00000417554.1:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|507|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.99)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.275C>T|ENSP00000326002.6:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|436|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.275C>T|ENSP00000419274.1:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|469|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.287)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.275C>T|ENSP00000246907.4:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|310|197|66|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.968)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.197C>T|ENSP00000419988.1:p.Ala66Val||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|469|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.275C>T|ENSP00000417148.1:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|294|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.275C>T|ENSP00000338007.3:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|23|23|8|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.994)|1/7|||ENST00000487825.1:c.23C>T|ENSP00000418212.1:p.Ala8Val||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|374|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.275C>T|ENSP00000420705.2:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|507|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.682)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.275C>T|ENSP00000312236.5:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|366|134|45|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.134C>T|ENSP00000418819.1:p.Ala45Val||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|366|134|45|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.134C>T|ENSP00000418775.1:p.Ala45Val||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|23|23|8|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.23C>T|ENSP00000419481.1:p.Ala8Val||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|394|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.275C>T|ENSP00000350283.3:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|507|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.911)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.275C>T|ENSP00000418960.2:p.Ala92Val||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|356|197|66|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.197C>T|ENSP00000420781.1:p.Ala66Val||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|468|275|92|A/V|gCt/gTt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.275C>T|ENSP00000419103.1:p.Ala92Val||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.275C>T|p.Ala92Val|507/7270|275/5655|92/1884|| chr17 41256912 brca1:p.A92H G T . . OLD_CLUMPED=chr17:41256912:GC/TG;CSQ=T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|376|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.274G>A|ENSP00000417554.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|376|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.274G>A|ENSP00000420412.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|506|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.274G>A|ENSP00000326002.6:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|309|196|66|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.977)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.196G>A|ENSP00000419988.1:p.Pro66Thr||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|468|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.821)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.274G>A|ENSP00000246907.4:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|435|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.274G>A|ENSP00000419274.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|468|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.274G>A|ENSP00000417148.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|373|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.274G>A|ENSP00000420705.2:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|293|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.274G>A|ENSP00000338007.3:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|22|22|8|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.995)|1/7|||ENST00000487825.1:c.22G>A|ENSP00000418212.1:p.Pro8Thr||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|506|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.682)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.274G>A|ENSP00000312236.5:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|365|133|45|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.133G>A|ENSP00000418819.1:p.Pro45Thr||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|365|133|45|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.133G>A|ENSP00000418775.1:p.Pro45Thr||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|22|22|8|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.22G>A|ENSP00000419481.1:p.Pro8Thr||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|393|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.274G>A|ENSP00000350283.3:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|467|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.274G>A|ENSP00000419103.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|355|196|66|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.196G>A|ENSP00000420781.1:p.Pro66Thr||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|506|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.951)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.274G>A|ENSP00000418960.2:p.Pro92Thr||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.274C>A|p.Ala92Thr|506/7270|274/5655|92/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256912 brca1:p.A92I G A . . OLD_CLUMPED=chr17:41256912:GC/AT;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|506|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.274G>T|ENSP00000312236.5:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|293|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.274G>T|ENSP00000338007.3:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|22|22|8|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.994)|1/7|||ENST00000487825.1:c.22G>T|ENSP00000418212.1:p.Pro8Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|373|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.274G>T|ENSP00000420705.2:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|468|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.406)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.274G>T|ENSP00000246907.4:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|435|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.274G>T|ENSP00000419274.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|309|196|66|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.968)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.196G>T|ENSP00000419988.1:p.Pro66Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|468|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.274G>T|ENSP00000417148.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|376|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.274G>T|ENSP00000420412.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|376|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.274G>T|ENSP00000417554.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|506|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.99)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.274G>T|ENSP00000326002.6:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|506|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.951)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.274G>T|ENSP00000418960.2:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|355|196|66|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.196G>T|ENSP00000420781.1:p.Pro66Ser||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|467|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.274G>T|ENSP00000419103.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|22|22|8|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.22G>T|ENSP00000419481.1:p.Pro8Ser||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|393|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.274G>T|ENSP00000350283.3:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|365|133|45|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.133G>T|ENSP00000418775.1:p.Pro45Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|365|133|45|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.133G>T|ENSP00000418819.1:p.Pro45Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.274C>T|p.Ala92Ser|506/7270|274/5655|92/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256912 brca1:p.A92L G A . . OLD_CLUMPED=chr17:41256912:GC/AG;CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|393|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.274G>T|ENSP00000350283.3:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|22|22|8|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.22G>T|ENSP00000419481.1:p.Pro8Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|365|133|45|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.133G>T|ENSP00000418819.1:p.Pro45Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|365|133|45|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.133G>T|ENSP00000418775.1:p.Pro45Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|506|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.951)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.274G>T|ENSP00000418960.2:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|467|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.274G>T|ENSP00000419103.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|355|196|66|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.196G>T|ENSP00000420781.1:p.Pro66Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|468|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.274G>T|ENSP00000417148.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|435|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.274G>T|ENSP00000419274.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|468|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.406)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.274G>T|ENSP00000246907.4:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|309|196|66|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.968)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.196G>T|ENSP00000419988.1:p.Pro66Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|506|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.99)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.274G>T|ENSP00000326002.6:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|376|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.274G>T|ENSP00000420412.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|376|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.274G>T|ENSP00000417554.1:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|506|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.274G>T|ENSP00000312236.5:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|293|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.274G>T|ENSP00000338007.3:p.Pro92Ser||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|22|22|8|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.994)|1/7|||ENST00000487825.1:c.22G>T|ENSP00000418212.1:p.Pro8Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|373|274|92|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.274G>T|ENSP00000420705.2:p.Pro92Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.274C>T|p.Ala92Ser|506/7270|274/5655|92/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256912 brca1:p.A92P C G . . CSQ=G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|22|22|8|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.22G>C|ENSP00000419481.1:p.Ala8Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|393|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.274G>C|ENSP00000350283.3:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|365|133|45|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.133G>C|ENSP00000418819.1:p.Ala45Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|365|133|45|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.133G>C|ENSP00000418775.1:p.Ala45Pro||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|355|196|66|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.196G>C|ENSP00000420781.1:p.Ala66Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|467|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.274G>C|ENSP00000419103.1:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|506|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.977)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.274G>C|ENSP00000418960.2:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|309|196|66|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.196G>C|ENSP00000419988.1:p.Ala66Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|435|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.274G>C|ENSP00000419274.1:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|468|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.959)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.274G>C|ENSP00000246907.4:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|468|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.274G>C|ENSP00000417148.1:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|376|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.274G>C|ENSP00000417554.1:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|376|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.274G>C|ENSP00000420412.1:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|506|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.997)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.274G>C|ENSP00000326002.6:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|506|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.82)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.274G>C|ENSP00000312236.5:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|373|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.274G>C|ENSP00000420705.2:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|293|274|92|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.274G>C|ENSP00000338007.3:p.Ala92Pro||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|22|22|8|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.998)|1/7|||ENST00000487825.1:c.22G>C|ENSP00000418212.1:p.Ala8Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.274G>C|p.Ala92Pro|506/7270|274/5655|92/1884|| chr17 41256912 brca1:p.A92R G C . . OLD_CLUMPED=chr17:41256912:GC/CG;CSQ=C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|506|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|355|196|66|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Pro66Ala||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|467|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|393|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|22|22|8|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Pro8Ala||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|365|133|45|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Pro45Ala||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|365|133|45|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Pro45Ala||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|506|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|22|22|8|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Pro8Ala||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|293|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|373|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|468|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|468|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|435|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|309|196|66|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Pro66Ala||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|506|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|376|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Pro92Ala||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|376|274|92|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Pro92Ala||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.274C>G|p.Ala92Ala|506/7270|274/5655|92/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256912 brca1:p.A92Y G T . . OLD_CLUMPED=chr17:41256912:GC/TA;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|506|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.682)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.274G>A|ENSP00000312236.5:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|373|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.274G>A|ENSP00000420705.2:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|293|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.274G>A|ENSP00000338007.3:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|22|22|8|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.995)|1/7|||ENST00000487825.1:c.22G>A|ENSP00000418212.1:p.Pro8Thr||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|468|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.274G>A|ENSP00000417148.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|309|196|66|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.977)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.196G>A|ENSP00000419988.1:p.Pro66Thr||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|468|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.821)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.274G>A|ENSP00000246907.4:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|435|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.274G>A|ENSP00000419274.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|506|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.274G>A|ENSP00000326002.6:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|376|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.274G>A|ENSP00000417554.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|376|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.274G>A|ENSP00000420412.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|355|196|66|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.196G>A|ENSP00000420781.1:p.Pro66Thr||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|467|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.274G>A|ENSP00000419103.1:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|506|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.951)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.274G>A|ENSP00000418960.2:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|393|274|92|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.274G>A|ENSP00000350283.3:p.Pro92Thr||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|22|22|8|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.22G>A|ENSP00000419481.1:p.Pro8Thr||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|365|133|45|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.133G>A|ENSP00000418819.1:p.Pro45Thr||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|365|133|45|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.133G>A|ENSP00000418775.1:p.Pro45Thr||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.274C>A|p.Ala92Thr|506/7270|274/5655|92/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256913 brca1:p.A92H C G . . OLD_CLUMPED=chr17:41256912:GC/TG;CSQ=G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|467|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.273T>C|ENSP00000417148.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|434|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.273T>C|ENSP00000419274.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|467|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.273T>C|ENSP00000246907.4:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|308|195|65|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.195T>C|ENSP00000419988.1:p.Trp65Cys||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.273T>C|ENSP00000326002.6:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|375|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.273T>C|ENSP00000420412.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|375|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.273T>C|ENSP00000417554.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.273T>C|ENSP00000312236.5:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|292|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.273T>C|ENSP00000338007.3:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|21|21|7|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.21T>C|ENSP00000418212.1:p.Trp7Cys||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|372|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.273T>C|ENSP00000420705.2:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|392|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.273T>C|ENSP00000350283.3:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|21|21|7|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.21T>C|ENSP00000419481.1:p.Trp7Cys||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|364|132|44|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.132T>C|ENSP00000418775.1:p.Trp44Cys||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|364|132|44|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.132T>C|ENSP00000418819.1:p.Trp44Cys||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.273T>C|ENSP00000418960.2:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|354|195|65|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.195T>C|ENSP00000420781.1:p.Trp65Cys||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|466|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.273T>C|ENSP00000419103.1:p.Trp91Cys||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.273G>C|p.Cys91Cys|505/7270|273/5655|91/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256913 brca1:p.A92I C T . . OLD_CLUMPED=chr17:41256912:GC/AT;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|stop_gained|372|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.273T>A|ENSP00000420705.2:p.Trp91Ter|||||||||||||||POSITION:0.119736842105263158|HC||,T|ENSG00000012048|ENST00000487825|Transcript|stop_gained|21|21|7|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.21T>A|ENSP00000418212.1:p.Trp7Ter|||||||||||||||POSITION:0.02625|HC||,T|ENSG00000012048|ENST00000351666|Transcript|stop_gained|292|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.273T>A|ENSP00000338007.3:p.Trp91Ter|||||||||||||||POSITION:0.133627019089574156|HC||,T|ENSG00000012048|ENST00000352993|Transcript|stop_gained|505|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.273T>A|ENSP00000312236.5:p.Trp91Ter|||||||||||||||POSITION:0.126038781163434903|HC||,T|ENSG00000012048|ENST00000476777|Transcript|stop_gained|375|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.273T>A|ENSP00000417554.1:p.Trp91Ter|||||||||||||||POSITION:0.409295352323838081|HC||,T|ENSG00000012048|ENST00000478531|Transcript|stop_gained|375|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.273T>A|ENSP00000420412.1:p.Trp91Ter|||||||||||||||POSITION:0.145989304812834225|HC||,T|ENSG00000012048|ENST00000354071|Transcript|stop_gained|505|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.273T>A|ENSP00000326002.6:p.Trp91Ter|||||||||||||||POSITION:0.0569105691056910569|HC||,T|ENSG00000012048|ENST00000477152|Transcript|stop_gained|308|195|65|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.195T>A|ENSP00000419988.1:p.Trp65Ter|||||||||||||||POSITION:0.104445634708087841|HC||,T|ENSG00000012048|ENST00000470026|Transcript|stop_gained|434|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.273T>A|ENSP00000419274.1:p.Trp91Ter|||||||||||||||POSITION:0.140215716486902928|HC||,T|ENSG00000012048|ENST00000346315|Transcript|stop_gained|467|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.273T>A|ENSP00000246907.4:p.Trp91Ter|||||||||||||||POSITION:0.056|HC||,T|ENSG00000012048|ENST00000468300|Transcript|stop_gained|467|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.273T>A|ENSP00000417148.1:p.Trp91Ter|||||||||||||||POSITION:0.13|HC||,T|ENSG00000012048|ENST00000489037|Transcript|stop_gained|354|195|65|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.195T>A|ENSP00000420781.1:p.Trp65Ter|||||||||||||||POSITION:0.658783783783783784|HC||,T|ENSG00000012048|ENST00000494123|Transcript|stop_gained|466|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.273T>A|ENSP00000419103.1:p.Trp91Ter|||||||||||||||POSITION:0.192389006342494715|HC||,T|ENSG00000012048|ENST00000471181|Transcript|stop_gained|505|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.273T>A|ENSP00000418960.2:p.Trp91Ter|||||||||||||||POSITION:0.0482758620689655172|HC||,T|ENSG00000012048|ENST00000493795|Transcript|stop_gained|364|132|44|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.132T>A|ENSP00000418775.1:p.Trp44Ter|||||||||||||||POSITION:0.0242157402311502477|HC||,T|ENSG00000012048|ENST00000493919|Transcript|stop_gained|364|132|44|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.132T>A|ENSP00000418819.1:p.Trp44Ter|||||||||||||||POSITION:0.0769230769230769231|HC||,T|ENSG00000012048|ENST00000484087|Transcript|stop_gained|21|21|7|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.21T>A|ENSP00000419481.1:p.Trp7Ter|||||||||||||||POSITION:0.0140468227424749164|HC||,T|ENSG00000012048|ENST00000357654|Transcript|stop_gained|392|273|91|W/*|tgG/tgA|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.273T>A|ENSP00000350283.3:p.Trp91Ter|||||||||||||||POSITION:0.0488197424892703863|HC||;ANN=T|stop_gained|HIGH|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.273G>A|p.Cys91*|505/7270|273/5655|91/1884||WARNING_REF_DOES_NOT_MATCH_GENOME;LOF=(BRCA1|BRCA1|1|1.00);NMD=(BRCA1|BRCA1|1|1.00) chr17 41256913 brca1:p.A92L C G . . OLD_CLUMPED=chr17:41256912:GC/AG;CSQ=G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|364|132|44|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.132T>C|ENSP00000418775.1:p.Trp44Cys||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|364|132|44|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.132T>C|ENSP00000418819.1:p.Trp44Cys||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|392|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.273T>C|ENSP00000350283.3:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|21|21|7|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.21T>C|ENSP00000419481.1:p.Trp7Cys||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|466|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.273T>C|ENSP00000419103.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|354|195|65|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.195T>C|ENSP00000420781.1:p.Trp65Cys||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.273T>C|ENSP00000418960.2:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.273T>C|ENSP00000326002.6:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|375|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.273T>C|ENSP00000417554.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|375|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.273T>C|ENSP00000420412.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|467|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.273T>C|ENSP00000417148.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|308|195|65|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.195T>C|ENSP00000419988.1:p.Trp65Cys||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|434|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.273T>C|ENSP00000419274.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|467|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.273T>C|ENSP00000246907.4:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|372|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.273T>C|ENSP00000420705.2:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|292|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.273T>C|ENSP00000338007.3:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|21|21|7|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.21T>C|ENSP00000418212.1:p.Trp7Cys||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.273T>C|ENSP00000312236.5:p.Trp91Cys||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.273G>C|p.Cys91Cys|505/7270|273/5655|91/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256913 brca1:p.A92R C G . . OLD_CLUMPED=chr17:41256912:GC/CG;CSQ=G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|364|132|44|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.132T>C|ENSP00000418775.1:p.Trp44Cys||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|364|132|44|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.132T>C|ENSP00000418819.1:p.Trp44Cys||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|21|21|7|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.21T>C|ENSP00000419481.1:p.Trp7Cys||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|392|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.273T>C|ENSP00000350283.3:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.273T>C|ENSP00000418960.2:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|354|195|65|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.195T>C|ENSP00000420781.1:p.Trp65Cys||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|466|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.273T>C|ENSP00000419103.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|375|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.273T>C|ENSP00000420412.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|375|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.273T>C|ENSP00000417554.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.273T>C|ENSP00000326002.6:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|467|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.273T>C|ENSP00000246907.4:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|434|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.273T>C|ENSP00000419274.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|308|195|65|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.195T>C|ENSP00000419988.1:p.Trp65Cys||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|467|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.273T>C|ENSP00000417148.1:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|292|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.273T>C|ENSP00000338007.3:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|21|21|7|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.21T>C|ENSP00000418212.1:p.Trp7Cys||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|372|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.273T>C|ENSP00000420705.2:p.Trp91Cys||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|505|273|91|W/C|tgG/tgC|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.273T>C|ENSP00000312236.5:p.Trp91Cys||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.273G>C|p.Cys91Cys|505/7270|273/5655|91/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256913 brca1:p.A92Y C A . . OLD_CLUMPED=chr17:41256912:GC/TA;CSQ=A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|354|195|65|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Trp65Cys||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|466|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|505|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|364|132|44|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Trp44Cys||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|364|132|44|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Trp44Cys||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|21|21|7|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Trp7Cys||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|392|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|372|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|21|21|7|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Trp7Cys||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|292|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|505|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|375|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|375|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|505|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|308|195|65|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Trp65Cys||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|434|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|467|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Trp91Cys||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|467|273|91|W/C|tgG/tgT|rs397509006||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Trp91Cys||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.273G>T|p.Cys91Cys|505/7270|273/5655|91/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256918 brca1:p.I90Y A T . . OLD_CLUMPED=chr17:41256918:AT/TA;CSQ=T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|349|190|64|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe64Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|461|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|500|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|387|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|16|16|6|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Phe6Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|367|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|287|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|16|16|6|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Phe6Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|500|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|500|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|370|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|370|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|462|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|303|190|64|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe64Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|462|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe90Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|429|268|90|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe90Ile||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.268T>A|p.Ile90Ile|500/7270|268/5655|90/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256919 brca1:p.I90Y T A . . OLD_CLUMPED=chr17:41256918:AT/TA;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|286|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.267C>T|ENST00000351666.3:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|15|15|5|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.15C>T|ENST00000487825.1:c.15C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|366|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.267C>T|ENST00000491747.2:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|499|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.267C>T|ENST00000352993.3:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|499|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.267C>T|ENST00000354071.3:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|369|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.267C>T|ENST00000478531.1:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|369|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.267C>T|ENST00000476777.1:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|461|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.267C>T|ENST00000468300.1:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|461|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.267C>T|ENST00000346315.3:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|428|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.267C>T|ENST00000470026.1:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|302|189|63|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.189C>T|ENST00000477152.1:c.189C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|499|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.267C>T|ENST00000471181.2:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|348|189|63|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.189C>T|ENST00000489037.1:c.189C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|460|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.267C>T|ENST00000494123.1:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|358|126|42|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.126C>T|ENST00000493795.1:c.126C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|358|126|42|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.126C>T|ENST00000493919.1:c.126C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|386|267|89|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.267C>T|ENST00000357654.3:c.267C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|15|15|5|I|atA/atT|rs80356963||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.15C>T|ENST00000484087.1:c.15C>T(p.%3D)||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.267A>T|p.Ile89Ile|499/7270|267/5655|89/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256921 brca1:p.I89C A C . . OLD_CLUMPED=chr17:41256921:AT/CA;CSQ=C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|346|187|63|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.36)|benign(0.009)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.187A>G|ENSP00000420781.1:p.Phe63Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|458|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.2)|benign(0.113)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.265A>G|ENSP00000419103.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|497|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.17)|possibly_damaging(0.488)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.265A>G|ENSP00000418960.2:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|384|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.14)|benign(0.113)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.265A>G|ENSP00000350283.3:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|13|13|5|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.35)|benign(0.09)|1/12|||ENST00000484087.1:c.13A>G|ENSP00000419481.1:p.Phe5Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|356|124|42|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.14)|benign(0.113)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.124A>G|ENSP00000418775.1:p.Phe42Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|356|124|42|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.71)|benign(0.04)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.124A>G|ENSP00000418819.1:p.Phe42Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|497|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.81)|benign(0.068)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.265A>G|ENSP00000312236.5:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|364|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.75)|benign(0.041)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.265A>G|ENSP00000420705.2:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|284|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.23)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.265A>G|ENSP00000338007.3:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|13|13|5|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|tolerated(0.22)|benign(0.106)|1/7|||ENST00000487825.1:c.13A>G|ENSP00000418212.1:p.Phe5Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|459|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.48)|benign(0.04)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.265A>G|ENSP00000417148.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|300|187|63|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.16)|benign(0.049)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.187A>G|ENSP00000419988.1:p.Phe63Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|426|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.2)|benign(0.113)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.265A>G|ENSP00000419274.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|459|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.23)|benign(0.146)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.265A>G|ENSP00000246907.4:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|497|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.19)|benign(0.223)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.265A>G|ENSP00000326002.6:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|367|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.44)|benign(0.004)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.265A>G|ENSP00000417554.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|367|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.47)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.265A>G|ENSP00000420412.1:p.Phe89Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.265T>G|p.Ile89Val|497/7270|265/5655|89/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256921 brca1:p.I89D A T . . OLD_CLUMPED=chr17:41256921:AT/TC;CSQ=T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|356|124|42|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe42Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|356|124|42|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe42Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|384|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|13|13|5|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Phe5Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|346|187|63|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe63Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|458|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|497|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|497|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|367|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|367|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|459|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|300|187|63|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe63Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|459|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|426|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|364|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|284|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe89Ile||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|13|13|5|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Phe5Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|497|265|89|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe89Ile||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.265T>A|p.Ile89Ile|497/7270|265/5655|89/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256921 brca1:p.I89G A C . . OLD_CLUMPED=chr17:41256921:AT/CC;CSQ=C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|497|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.81)|benign(0.068)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.265A>G|ENSP00000312236.5:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|364|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.75)|benign(0.041)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.265A>G|ENSP00000420705.2:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|284|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.23)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.265A>G|ENSP00000338007.3:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|13|13|5|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|tolerated(0.22)|benign(0.106)|1/7|||ENST00000487825.1:c.13A>G|ENSP00000418212.1:p.Phe5Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|459|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.48)|benign(0.04)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.265A>G|ENSP00000417148.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|300|187|63|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.16)|benign(0.049)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.187A>G|ENSP00000419988.1:p.Phe63Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|426|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.2)|benign(0.113)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.265A>G|ENSP00000419274.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|459|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.23)|benign(0.146)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.265A>G|ENSP00000246907.4:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|497|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.19)|benign(0.223)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.265A>G|ENSP00000326002.6:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|367|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.44)|benign(0.004)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.265A>G|ENSP00000417554.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|367|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.47)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.265A>G|ENSP00000420412.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|346|187|63|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.36)|benign(0.009)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.187A>G|ENSP00000420781.1:p.Phe63Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|458|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.2)|benign(0.113)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.265A>G|ENSP00000419103.1:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|497|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.17)|possibly_damaging(0.488)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.265A>G|ENSP00000418960.2:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|384|265|89|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.14)|benign(0.113)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.265A>G|ENSP00000350283.3:p.Phe89Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|13|13|5|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.35)|benign(0.09)|1/12|||ENST00000484087.1:c.13A>G|ENSP00000419481.1:p.Phe5Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|356|124|42|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.71)|benign(0.04)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.124A>G|ENSP00000418819.1:p.Phe42Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|356|124|42|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.14)|benign(0.113)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.124A>G|ENSP00000418775.1:p.Phe42Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.265T>G|p.Ile89Val|497/7270|265/5655|89/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256921 brca1:p.I89P A G . . OLD_CLUMPED=chr17:41256921:AT/GG;CSQ=G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|284|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.26)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.265A>C|ENSP00000338007.3:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|13|13|5|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.05)|benign(0.066)|1/7|||ENST00000487825.1:c.13A>C|ENSP00000418212.1:p.Phe5Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|364|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.21)|benign(0.124)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.265A>C|ENSP00000420705.2:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|497|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.36)|benign(0.068)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.265A>C|ENSP00000312236.5:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|367|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.12)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.265A>C|ENSP00000420412.1:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|367|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.1)|benign(0.07)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.265A>C|ENSP00000417554.1:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|497|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.03)|benign(0.223)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.265A>C|ENSP00000326002.6:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|459|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.05)|benign(0.021)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.265A>C|ENSP00000246907.4:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|426|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.04)|benign(0.345)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.265A>C|ENSP00000419274.1:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|300|187|63|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.03)|benign(0.049)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.187A>C|ENSP00000419988.1:p.Phe63Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|459|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.14)|benign(0.024)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.265A>C|ENSP00000417148.1:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|497|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.03)|benign(0.36)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.265A>C|ENSP00000418960.2:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|346|187|63|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.27)|benign(0.059)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.187A>C|ENSP00000420781.1:p.Phe63Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|458|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.04)|benign(0.345)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.265A>C|ENSP00000419103.1:p.Phe89Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|356|124|42|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.19)|benign(0.058)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.124A>C|ENSP00000418819.1:p.Phe42Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|356|124|42|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.02)|benign(0.345)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.124A>C|ENSP00000418775.1:p.Phe42Leu||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|13|13|5|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.07)|benign(0.128)|1/12|||ENST00000484087.1:c.13A>C|ENSP00000419481.1:p.Phe5Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|384|265|89|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.02)|benign(0.345)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.265A>C|ENSP00000350283.3:p.Phe89Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.265T>C|p.Ile89Leu|497/7270|265/5655|89/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256922 brca1:p.I89C T A . . OLD_CLUMPED=chr17:41256921:AT/CA;CSQ=A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|457|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.952)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.264A>T|ENSP00000419103.1:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|345|186|62|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.33)|benign(0.044)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.186A>T|ENSP00000420781.1:p.Lys62Asn||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|496|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.32)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.264A>T|ENSP00000418960.2:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|355|123|41|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.952)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.123A>T|ENSP00000418775.1:p.Lys41Asn||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|355|123|41|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|benign(0.039)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.123A>T|ENSP00000418819.1:p.Lys41Asn||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|383|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.952)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.264A>T|ENSP00000350283.3:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000484087|Transcript|missense_variant|12|12|4|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|benign(0.089)|1/12|||ENST00000484087.1:c.12A>T|ENSP00000419481.1:p.Lys4Asn||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|363|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|benign(0.059)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.264A>T|ENSP00000420705.2:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|283|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.18)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.264A>T|ENSP00000338007.3:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000487825|Transcript|missense_variant|12|12|4|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|benign(0.009)|1/7|||ENST00000487825.1:c.12A>T|ENSP00000418212.1:p.Lys4Asn||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|496|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.16)|possibly_damaging(0.607)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.264A>T|ENSP00000312236.5:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|496|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.031)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.264A>T|ENSP00000326002.6:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|366|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.07)|benign(0.023)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.264A>T|ENSP00000417554.1:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|366|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.264A>T|ENSP00000420412.1:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|458|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.09)|benign(0.009)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.264A>T|ENSP00000417148.1:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|299|186|62|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.981)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.186A>T|ENSP00000419988.1:p.Lys62Asn||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|425|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.952)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.264A>T|ENSP00000419274.1:p.Lys88Asn||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|458|264|88|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.701)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.264A>T|ENSP00000246907.4:p.Lys88Asn||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.264A>T|p.Lys88Asn|496/7270|264/5655|88/1884|| chr17 41256922 brca1:p.I89D T C . . OLD_CLUMPED=chr17:41256921:AT/TC;CSQ=C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|283|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.264A>G|ENST00000351666.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|12|12|4|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.12A>G|ENST00000487825.1:c.12A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|363|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.264A>G|ENST00000491747.2:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|496|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.264A>G|ENST00000352993.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|366|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.264A>G|ENST00000478531.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|366|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.264A>G|ENST00000476777.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|496|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.264A>G|ENST00000354071.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|425|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.264A>G|ENST00000470026.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|458|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.264A>G|ENST00000346315.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|299|186|62|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.186A>G|ENST00000477152.1:c.186A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|458|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.264A>G|ENST00000468300.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|496|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.264A>G|ENST00000471181.2:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|457|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.264A>G|ENST00000494123.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|345|186|62|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.186A>G|ENST00000489037.1:c.186A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|355|123|41|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.123A>G|ENST00000493919.1:c.123A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|355|123|41|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.123A>G|ENST00000493795.1:c.123A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|12|12|4|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.12A>G|ENST00000484087.1:c.12A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|383|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.264A>G|ENST00000357654.3:c.264A>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.264A>G|p.Lys88Lys|496/7270|264/5655|88/1884|| chr17 41256922 brca1:p.I89G T C . . OLD_CLUMPED=chr17:41256921:AT/CC;CSQ=C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|355|123|41|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.123A>G|ENST00000493919.1:c.123A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|355|123|41|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.123A>G|ENST00000493795.1:c.123A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|12|12|4|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.12A>G|ENST00000484087.1:c.12A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|383|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.264A>G|ENST00000357654.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|496|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.264A>G|ENST00000471181.2:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|345|186|62|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.186A>G|ENST00000489037.1:c.186A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|457|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.264A>G|ENST00000494123.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|366|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.264A>G|ENST00000478531.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|366|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.264A>G|ENST00000476777.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|496|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.264A>G|ENST00000354071.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|458|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.264A>G|ENST00000346315.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|425|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.264A>G|ENST00000470026.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|299|186|62|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.186A>G|ENST00000477152.1:c.186A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|458|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.264A>G|ENST00000468300.1:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|283|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.264A>G|ENST00000351666.3:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|12|12|4|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.12A>G|ENST00000487825.1:c.12A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|363|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.264A>G|ENST00000491747.2:c.264A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|496|264|88|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.264A>G|ENST00000352993.3:c.264A>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.264A>G|p.Lys88Lys|496/7270|264/5655|88/1884|| chr17 41256922 brca1:p.I89P T G . . OLD_CLUMPED=chr17:41256921:AT/GG;CSQ=G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|363|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|benign(0.059)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.264A>C|ENSP00000420705.2:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|283|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.18)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.264A>C|ENSP00000338007.3:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|12|12|4|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|benign(0.009)|1/7|||ENST00000487825.1:c.12A>C|ENSP00000418212.1:p.Lys4Asn||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|496|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.16)|possibly_damaging(0.607)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.264A>C|ENSP00000312236.5:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|366|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.07)|benign(0.023)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.264A>C|ENSP00000417554.1:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|366|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.264A>C|ENSP00000420412.1:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|496|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.031)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.264A>C|ENSP00000326002.6:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|299|186|62|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.981)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.186A>C|ENSP00000419988.1:p.Lys62Asn||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|458|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.701)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.264A>C|ENSP00000246907.4:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|425|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.952)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.264A>C|ENSP00000419274.1:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|458|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.09)|benign(0.009)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.264A>C|ENSP00000417148.1:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|345|186|62|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.33)|benign(0.044)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.186A>C|ENSP00000420781.1:p.Lys62Asn||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|457|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.952)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.264A>C|ENSP00000419103.1:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|496|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.32)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.264A>C|ENSP00000418960.2:p.Lys88Asn||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|355|123|41|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.952)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.123A>C|ENSP00000418775.1:p.Lys41Asn||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|355|123|41|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|benign(0.039)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.123A>C|ENSP00000418819.1:p.Lys41Asn||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|12|12|4|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|benign(0.089)|1/12|||ENST00000484087.1:c.12A>C|ENSP00000419481.1:p.Lys4Asn||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|383|264|88|K/N|aaA/aaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.952)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.264A>C|ENSP00000350283.3:p.Lys88Asn||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.264A>C|p.Lys88Asn|496/7270|264/5655|88/1884|| chr17 41256927 brca1:p.L87G A C . . OLD_CLUMPED=chr17:41256927:AA/CC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|378|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.259T>G|ENSP00000350283.3:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|7|7|3|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.06)|probably_damaging(0.989)|1/12|||ENST00000484087.1:c.7T>G|ENSP00000419481.1:p.Leu3Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|350|118|40|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.118T>G|ENSP00000418775.1:p.Leu40Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|350|118|40|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.978)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.118T>G|ENSP00000418819.1:p.Leu40Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|340|181|61|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.09)|possibly_damaging(0.803)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.181T>G|ENSP00000420781.1:p.Leu61Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|452|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.259T>G|ENSP00000419103.1:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|491|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.921)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.259T>G|ENSP00000418960.2:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|453|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.04)|probably_damaging(0.913)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.259T>G|ENSP00000417148.1:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|294|181|61|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.181T>G|ENSP00000419988.1:p.Leu61Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|420|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.259T>G|ENSP00000419274.1:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|453|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.864)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.259T>G|ENSP00000246907.4:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|491|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.259T>G|ENSP00000326002.6:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|361|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.04)|benign(0.215)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.259T>G|ENSP00000417554.1:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|361|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.259T>G|ENSP00000420412.1:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|491|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.06)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.259T>G|ENSP00000312236.5:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|358|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.978)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.259T>G|ENSP00000420705.2:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|278|259|87|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.07)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.259T>G|ENSP00000338007.3:p.Leu87Val||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|7|7|3|L/V|Ttg/Gtg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.04)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.7T>G|ENSP00000418212.1:p.Leu3Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.259T>G|p.Leu87Val|491/7270|259/5655|87/1884|| chr17 41256927 brca1:p.L87Q A T . . OLD_CLUMPED=chr17:41256927:AA/TG;CSQ=T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|420|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.259T>A|ENSP00000419274.1:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|453|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.969)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.259T>A|ENSP00000246907.4:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|294|181|61|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.181T>A|ENSP00000419988.1:p.Leu61Met||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|453|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.05)|possibly_damaging(0.772)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.259T>A|ENSP00000417148.1:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|361|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.259T>A|ENSP00000420412.1:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|361|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.05)|benign(0.35)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.259T>A|ENSP00000417554.1:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|491|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.997)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.259T>A|ENSP00000326002.6:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|491|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.07)|possibly_damaging(0.82)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.259T>A|ENSP00000312236.5:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|278|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.08)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.259T>A|ENSP00000338007.3:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|7|7|3|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0.04)|probably_damaging(0.998)|1/7|||ENST00000487825.1:c.7T>A|ENSP00000418212.1:p.Leu3Met||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|358|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.936)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.259T>A|ENSP00000420705.2:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|7|7|3|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|tolerated(0.07)|probably_damaging(0.984)|1/12|||ENST00000484087.1:c.7T>A|ENSP00000419481.1:p.Leu3Met||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|378|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.259T>A|ENSP00000350283.3:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|350|118|40|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.118T>A|ENSP00000418775.1:p.Leu40Met||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|350|118|40|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.934)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.118T>A|ENSP00000418819.1:p.Leu40Met||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|491|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.259T>A|ENSP00000418960.2:p.Leu87Met||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|340|181|61|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.08)|probably_damaging(0.964)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.181T>A|ENSP00000420781.1:p.Leu61Met||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|452|259|87|L/M|Ttg/Atg|rs80357091||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.259T>A|ENSP00000419103.1:p.Leu87Met||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.259T>A|p.Leu87Met|491/7270|259/5655|87/1884|| chr17 41256928 brca1:p.L87G A C . . OLD_CLUMPED=chr17:41256927:AA/CC;CSQ=C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|277|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.258A>G|ENST00000351666.3:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|6|6|2|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.6A>G|ENST00000487825.1:c.6A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|357|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.258A>G|ENST00000491747.2:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|490|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.258A>G|ENST00000352993.3:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|360|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.258A>G|ENST00000478531.1:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|360|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.258A>G|ENST00000476777.1:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|490|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.258A>G|ENST00000354071.3:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|419|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.258A>G|ENST00000470026.1:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|452|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.258A>G|ENST00000346315.3:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|293|180|60|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.180A>G|ENST00000477152.1:c.180A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|452|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.258A>G|ENST00000468300.1:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|490|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.258A>G|ENST00000471181.2:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|339|180|60|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.180A>G|ENST00000489037.1:c.180A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|451|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.258A>G|ENST00000494123.1:c.258A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|349|117|39|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.117A>G|ENST00000493795.1:c.117A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|349|117|39|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.117A>G|ENST00000493919.1:c.117A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|6|6|2|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.6A>G|ENST00000484087.1:c.6A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|377|258|86|L|ctT/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.258A>G|ENST00000357654.3:c.258A>G(p.%3D)||||||||||||||||||;ExAC_AN_AFR=9052;ExAC_AN_AMR=11210;ExAC_AC_AMR=0,1;ExAC_AC_OTH=0,0;ExAC_AC_FIN=0,0;ExAC_AC=1,1;ExAC_AC_NFE=1,0;ExAC_AC_AFR=0,0;ExAC_AN_OTH=694;ExAC_AN_FIN=6614;ExAC_AC_Hom=0,0;ExAC=17:41256928-41256928;ExAC_AN_Adj=106170;ExAC_AN_SAS=16400;ExAC_AC_Het=1,1,0;ExAC_AN_EAS=7866;ExAC_AN=106204;ExAC_AF=9.416e-06,9.416e-06,9.416e-06,9.416e-06;ExAC_AC_SAS=0,0;ExAC_AC_EAS=0,0;ExAC_AN_NFE=54334;ExAC_AC_Adj=1,1;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.258T>G|p.Leu86Leu|490/7270|258/5655|86/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256928 brca1:p.L87Q A G . . OLD_CLUMPED=chr17:41256927:AA/TG;CSQ=G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|357|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.258A>C|ENST00000491747.2:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|277|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.258A>C|ENST00000351666.3:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|synonymous_variant|6|6|2|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.6A>C|ENST00000487825.1:c.6A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|490|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.258A>C|ENST00000352993.3:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|360|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.258A>C|ENST00000476777.1:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|360|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.258A>C|ENST00000478531.1:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|490|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.258A>C|ENST00000354071.3:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|293|180|60|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.180A>C|ENST00000477152.1:c.180A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|452|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.258A>C|ENST00000346315.3:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|419|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.258A>C|ENST00000470026.1:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|452|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.258A>C|ENST00000468300.1:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|451|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.258A>C|ENST00000494123.1:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|339|180|60|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.180A>C|ENST00000489037.1:c.180A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|490|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.258A>C|ENST00000471181.2:c.258A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|349|117|39|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.117A>C|ENST00000493919.1:c.117A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|349|117|39|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.117A>C|ENST00000493795.1:c.117A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|synonymous_variant|6|6|2|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.6A>C|ENST00000484087.1:c.6A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|377|258|86|L|ctT/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.258A>C|ENST00000357654.3:c.258A>C(p.%3D)||||||||||||||||||;ExAC_AC_Adj=1,1;ExAC_AN_NFE=54334;ExAC_AC_EAS=0,0;ExAC_AC_SAS=0,0;ExAC_AF=9.416e-06,9.416e-06,9.416e-06,9.416e-06;ExAC_AN=106204;ExAC_AN_EAS=7866;ExAC_AC_Het=1,1,0;ExAC_AN_SAS=16400;ExAC_AN_Adj=106170;ExAC_AC_Hom=0,0;ExAC=17:41256928-41256928;ExAC_AN_FIN=6614;ExAC_AN_OTH=694;ExAC_AC_AFR=0,0;ExAC_AC=1,1;ExAC_AC_NFE=1,0;ExAC_AC_FIN=0,0;ExAC_AC_OTH=0,0;ExAC_AC_AMR=0,1;ExAC_AN_AMR=11210;ExAC_AN_AFR=9052;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.258T>C|p.Leu86Leu|490/7270|258/5655|86/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256929 brca1:p.L86P A G . . CSQ=G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|338|179|60|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.998)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.179T>C|ENSP00000420781.1:p.Leu60Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|450|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.257T>C|ENSP00000419103.1:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|489|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.999)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.257T>C|ENSP00000418960.2:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|376|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.257T>C|ENSP00000350283.3:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|missense_variant|5|5|2|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.5T>C|ENSP00000419481.1:p.Leu2Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|348|116|39|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.116T>C|ENSP00000418819.1:p.Leu39Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|348|116|39|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.116T>C|ENSP00000418775.1:p.Leu39Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|489|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.257T>C|ENSP00000312236.5:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|356|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.257T>C|ENSP00000420705.2:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|276|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.257T>C|ENSP00000338007.3:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|missense_variant|5|5|2|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.5T>C|ENSP00000418212.1:p.Leu2Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|451|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.257T>C|ENSP00000417148.1:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|292|179|60|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.179T>C|ENSP00000419988.1:p.Leu60Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|418|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.257T>C|ENSP00000419274.1:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|451|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.949)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.257T>C|ENSP00000246907.4:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|489|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.257T>C|ENSP00000326002.6:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|359|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.257T>C|ENSP00000417554.1:p.Leu86Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|359|257|86|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.257T>C|ENSP00000420412.1:p.Leu86Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.257T>C|p.Leu86Pro|489/7270|257/5655|86/1884|| chr17 41256929 brca1:p.L86Q A T . . CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|489|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.999)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.257T>A|ENSP00000418960.2:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|338|179|60|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.05)|probably_damaging(0.998)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.179T>A|ENSP00000420781.1:p.Leu60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|450|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.257T>A|ENSP00000419103.1:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|376|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.257T>A|ENSP00000350283.3:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|5|5|2|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.5T>A|ENSP00000419481.1:p.Leu2Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|348|116|39|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.975)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.116T>A|ENSP00000418819.1:p.Leu39Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|348|116|39|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.116T>A|ENSP00000418775.1:p.Leu39Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|489|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.12)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.257T>A|ENSP00000312236.5:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|276|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.15)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.257T>A|ENSP00000338007.3:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|5|5|2|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.999)|1/7|||ENST00000487825.1:c.5T>A|ENSP00000418212.1:p.Leu2Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|356|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.14)|probably_damaging(0.985)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.257T>A|ENSP00000420705.2:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|451|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.12)|probably_damaging(0.965)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.257T>A|ENSP00000417148.1:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|451|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.471)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.257T>A|ENSP00000246907.4:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|418|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.257T>A|ENSP00000419274.1:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|292|179|60|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.179T>A|ENSP00000419988.1:p.Leu60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|489|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.257T>A|ENSP00000326002.6:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|359|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.14)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.257T>A|ENSP00000420412.1:p.Leu86Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|359|257|86|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.03)|probably_damaging(0.992)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.257T>A|ENSP00000417554.1:p.Leu86Gln||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.257T>A|p.Leu86Gln|489/7270|257/5655|86/1884|| chr17 41256929 brca1:p.L86R A C . . CSQ=C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|348|116|39|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.116T>G|ENSP00000418819.1:p.Leu39Arg||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|348|116|39|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.116T>G|ENSP00000418775.1:p.Leu39Arg||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|missense_variant|5|5|2|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(1)|1/12|||ENST00000484087.1:c.5T>G|ENSP00000419481.1:p.Leu2Arg||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|376|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.257T>G|ENSP00000350283.3:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|338|179|60|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.997)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.179T>G|ENSP00000420781.1:p.Leu60Arg||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|450|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.257T>G|ENSP00000419103.1:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|489|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.999)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.257T>G|ENSP00000418960.2:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|359|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.257T>G|ENSP00000417554.1:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|359|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.257T>G|ENSP00000420412.1:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|489|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.997)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.257T>G|ENSP00000326002.6:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|292|179|60|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.179T>G|ENSP00000419988.1:p.Leu60Arg||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|418|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.257T>G|ENSP00000419274.1:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|451|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.243)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.257T>G|ENSP00000246907.4:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|451|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.998)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.257T>G|ENSP00000417148.1:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|356|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.257T>G|ENSP00000420705.2:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|276|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.257T>G|ENSP00000338007.3:p.Leu86Arg||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|missense_variant|5|5|2|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.998)|1/7|||ENST00000487825.1:c.5T>G|ENSP00000418212.1:p.Leu2Arg||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|489|257|86|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.257T>G|ENSP00000312236.5:p.Leu86Arg||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.257T>G|p.Leu86Arg|489/7270|257/5655|86/1884|| chr17 41256930 brca1:p.L86E A T . . OLD_CLUMPED=chr17:41256930:AG/TC;CSQ=T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|337|178|60|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.03)|probably_damaging(0.936)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.178C>A|ENSP00000420781.1:p.Leu60Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|449|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.256C>A|ENSP00000419103.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|488|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.997)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.256C>A|ENSP00000418960.2:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|347|115|39|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.988)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.115C>A|ENSP00000418819.1:p.Leu39Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|347|115|39|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.115C>A|ENSP00000418775.1:p.Leu39Ile||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|4|4|2|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.4C>A|ENSP00000419481.1:p.Leu2Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|375|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.256C>A|ENSP00000350283.3:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|355|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.07)|probably_damaging(0.99)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.256C>A|ENSP00000420705.2:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|275|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.08)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.256C>A|ENSP00000338007.3:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|4|4|2|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.4C>A|ENSP00000418212.1:p.Leu2Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|488|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.05)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.256C>A|ENSP00000312236.5:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|358|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.972)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.256C>A|ENSP00000417554.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|358|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.06)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.256C>A|ENSP00000420412.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|488|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.256C>A|ENSP00000326002.6:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|291|178|60|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.178C>A|ENSP00000419988.1:p.Leu60Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|450|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.835)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.256C>A|ENSP00000246907.4:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|417|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.256C>A|ENSP00000419274.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|450|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.05)|probably_damaging(0.988)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.256C>A|ENSP00000417148.1:p.Leu86Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.256T>A|p.Leu86Ile|488/7270|256/5655|86/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256930 brca1:p.L86K A T . . OLD_CLUMPED=chr17:41256930:AG/TT;CSQ=T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|337|178|60|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.03)|probably_damaging(0.936)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.178C>A|ENSP00000420781.1:p.Leu60Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|449|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.256C>A|ENSP00000419103.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|488|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.997)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.256C>A|ENSP00000418960.2:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|missense_variant|4|4|2|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.4C>A|ENSP00000419481.1:p.Leu2Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|375|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.256C>A|ENSP00000350283.3:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|347|115|39|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.988)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.115C>A|ENSP00000418819.1:p.Leu39Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|347|115|39|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.115C>A|ENSP00000418775.1:p.Leu39Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|488|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.05)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.256C>A|ENSP00000312236.5:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|355|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.07)|probably_damaging(0.99)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.256C>A|ENSP00000420705.2:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|275|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.08)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.256C>A|ENSP00000338007.3:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|missense_variant|4|4|2|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.99)|1/7|||ENST00000487825.1:c.4C>A|ENSP00000418212.1:p.Leu2Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|291|178|60|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.178C>A|ENSP00000419988.1:p.Leu60Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|417|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.256C>A|ENSP00000419274.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|450|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.835)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.256C>A|ENSP00000246907.4:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|450|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.05)|probably_damaging(0.988)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.256C>A|ENSP00000417148.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|358|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.972)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.256C>A|ENSP00000417554.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|358|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.06)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.256C>A|ENSP00000420412.1:p.Leu86Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|488|256|86|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.256C>A|ENSP00000326002.6:p.Leu86Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.256T>A|p.Leu86Ile|488/7270|256/5655|86/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256931 brca1:p.L86E G C . . OLD_CLUMPED=chr17:41256930:AG/TC;CSQ=C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|449|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|449|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|416|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|290|177|59|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asp59Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|487|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|357|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|357|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|487|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|274|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|initiator_codon_variant|3|3|1|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Asp1?||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|354|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|374|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|initiator_codon_variant|3|3|1|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Asp1?||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|346|114|38|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Asp38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|346|114|38|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Asp38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|487|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asp85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|336|177|59|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asp59Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|448|255|85|D/E|gaC/gaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asp85Glu||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.255C>G|p.Glu85Glu|487/7270|255/5655|85/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256931 brca1:p.L86K G T . . OLD_CLUMPED=chr17:41256930:AG/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|374|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.255G>A|ENSP00000350283.3:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000484087|Transcript|initiator_codon_variant|3|3|1|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12|||ENST00000484087.1:c.3G>A|ENSP00000419481.1:p.Asp1?||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|346|114|38|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.114G>A|ENSP00000418775.1:p.Asp38Glu||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|346|114|38|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.114G>A|ENSP00000418819.1:p.Asp38Glu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|487|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.255G>A|ENSP00000418960.2:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|336|177|59|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.177G>A|ENSP00000420781.1:p.Asp59Glu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|448|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.255G>A|ENSP00000419103.1:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|449|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.255G>A|ENSP00000417148.1:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|416|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.255G>A|ENSP00000419274.1:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|449|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.255G>A|ENSP00000246907.4:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|290|177|59|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.177G>A|ENSP00000419988.1:p.Asp59Glu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|487|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.255G>A|ENSP00000326002.6:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|357|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.255G>A|ENSP00000420412.1:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|357|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.255G>A|ENSP00000417554.1:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|487|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.255G>A|ENSP00000312236.5:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000487825|Transcript|initiator_codon_variant|3|3|1|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7|||ENST00000487825.1:c.3G>A|ENSP00000418212.1:p.Asp1?||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|274|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.255G>A|ENSP00000338007.3:p.Asp85Glu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|354|255|85|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.255G>A|ENSP00000420705.2:p.Asp85Glu||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.255C>A|p.Glu85Glu|487/7270|255/5655|85/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256933 brca1:p.E85Q C G . . CSQ=G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|355|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.28)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.253G>C|ENSP00000420412.1:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|355|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.22)|possibly_damaging(0.827)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.253G>C|ENSP00000417554.1:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|485|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.04)|possibly_damaging(0.857)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.253G>C|ENSP00000326002.6:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|447|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.06)|probably_damaging(0.939)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.253G>C|ENSP00000246907.4:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|414|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.06)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.253G>C|ENSP00000419274.1:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|288|175|59|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.03)|probably_damaging(0.968)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.175G>C|ENSP00000419988.1:p.Glu59Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|447|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.23)|probably_damaging(0.939)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.253G>C|ENSP00000417148.1:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|272|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.24)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.253G>C|ENSP00000338007.3:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000487825|Transcript|initiator_codon_variant|1|1|1|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|deleterious(0)|probably_damaging(0.994)|1/7|||ENST00000487825.1:c.1G>C|ENSP00000418212.1:p.Glu1?||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|352|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.23)|probably_damaging(0.989)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.253G>C|ENSP00000420705.2:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|485|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.09)|possibly_damaging(0.607)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.253G>C|ENSP00000312236.5:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|344|112|38|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.02)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.112G>C|ENSP00000418775.1:p.Glu38Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|344|112|38|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.25)|probably_damaging(0.982)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.112G>C|ENSP00000418819.1:p.Glu38Gln||||||||||||||||||,G|ENSG00000012048|ENST00000484087|Transcript|initiator_codon_variant|1|1|1|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|deleterious(0)|probably_damaging(0.999)|1/12|||ENST00000484087.1:c.1G>C|ENSP00000419481.1:p.Glu1?||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|372|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.02)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.253G>C|ENSP00000350283.3:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|485|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.04)|possibly_damaging(0.883)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.253G>C|ENSP00000418960.2:p.Glu85Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|334|175|59|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.27)|probably_damaging(0.963)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.175G>C|ENSP00000420781.1:p.Glu59Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|446|253|85|E/Q|Gag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.08)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.253G>C|ENSP00000419103.1:p.Glu85Gln||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.253G>C|p.Glu85Gln|485/7270|253/5655|85/1884|| chr17 41256933 brca1:p.E85W T C . . OLD_CLUMPED=chr17:41256933:TC/CA;CSQ=C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|344|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|344|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000484087|Transcript|initiator_codon_variant|1|1|1|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419481||Q9UE29_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&H0Y8B8_HUMAN&C4PFY7_HUMAN|UPI0001B79085|||1/12||||ENSP00000419481.1:p.Lys1?||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|372|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|485|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|334|175|59|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys59Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|446|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|355|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|355|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|485|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|414|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|447|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|288|175|59|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys59Glu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|447|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|272|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000487825|Transcript|initiator_codon_variant|1|1|1|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418212||H0Y881_HUMAN|UPI0001B79087|||1/7||||ENSP00000418212.1:p.Lys1?||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|352|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys85Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|485|253|85|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys85Glu||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.253A>G|p.Glu85Glu|485/7270|253/5655|85/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256934 brca1:p.E85W C A . . OLD_CLUMPED=chr17:41256933:TC/CA;CSQ=A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|351|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.252A>T|ENSP00000420705.2:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|271|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.11)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.252A>T|ENSP00000338007.3:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|484|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.09)|benign(0.388)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.252A>T|ENSP00000312236.5:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|484|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.98)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.252A>T|ENSP00000326002.6:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|354|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.04)|possibly_damaging(0.706)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.252A>T|ENSP00000417554.1:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|354|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.252A>T|ENSP00000420412.1:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|446|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.07)|possibly_damaging(0.674)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.252A>T|ENSP00000417148.1:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|287|174|58|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.935)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.174A>T|ENSP00000419988.1:p.Glu58Asp||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|446|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.724)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.252A>T|ENSP00000246907.4:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|413|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.996)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.252A>T|ENSP00000419274.1:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|333|174|58|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.05)|probably_damaging(0.974)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.174A>T|ENSP00000420781.1:p.Glu58Asp||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|445|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.996)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.252A>T|ENSP00000419103.1:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|484|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.996)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.252A>T|ENSP00000418960.2:p.Glu84Asp||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|343|111|37|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.996)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.111A>T|ENSP00000418775.1:p.Glu37Asp||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|343|111|37|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.982)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.111A>T|ENSP00000418819.1:p.Glu37Asp||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|371|252|84|E/D|gaG/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.996)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.252A>T|ENSP00000350283.3:p.Glu84Asp||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.252G>T|p.Glu84Asp|484/7270|252/5655|84/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256936 brca1:p.E84T T G . . OLD_CLUMPED=chr17:41256936:TC/GT;CSQ=G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|482|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.250G>C|ENSP00000326002.6:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|352|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|probably_damaging(0.916)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.250G>C|ENSP00000417554.1:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|352|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.250G>C|ENSP00000420412.1:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|444|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.03)|probably_damaging(0.96)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.250G>C|ENSP00000417148.1:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|285|172|58|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.968)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.172G>C|ENSP00000419988.1:p.Lys58Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|444|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.899)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.250G>C|ENSP00000246907.4:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|411|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.250G>C|ENSP00000419274.1:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|349|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.250G>C|ENSP00000420705.2:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|269|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.05)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.250G>C|ENSP00000338007.3:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|482|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.05)|possibly_damaging(0.607)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.250G>C|ENSP00000312236.5:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|341|109|37|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.989)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.109G>C|ENSP00000418819.1:p.Lys37Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|341|109|37|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.109G>C|ENSP00000418775.1:p.Lys37Gln||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|369|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.250G>C|ENSP00000350283.3:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|331|172|58|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.03)|probably_damaging(0.974)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.172G>C|ENSP00000420781.1:p.Lys58Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|443|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.250G>C|ENSP00000419103.1:p.Lys84Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|482|250|84|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.998)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.250G>C|ENSP00000418960.2:p.Lys84Gln||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.250A>C|p.Glu84Gln|482/7270|250/5655|84/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256937 brca1:p.E84T C T . . OLD_CLUMPED=chr17:41256936:TC/GT;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|481|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.249T>A|ENST00000471181.2:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|442|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.249T>A|ENST00000494123.1:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|330|171|57|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.171T>A|ENST00000489037.1:c.171T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|368|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.249T>A|ENST00000357654.3:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|340|108|36|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.108T>A|ENST00000493795.1:c.108T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|340|108|36|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.108T>A|ENST00000493919.1:c.108T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|481|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.249T>A|ENST00000352993.3:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|268|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.249T>A|ENST00000351666.3:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|348|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.249T>A|ENST00000491747.2:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|443|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.249T>A|ENST00000346315.3:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|410|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.249T>A|ENST00000470026.1:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|284|171|57|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.171T>A|ENST00000477152.1:c.171T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|443|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.249T>A|ENST00000468300.1:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|351|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.249T>A|ENST00000478531.1:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|351|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.249T>A|ENST00000476777.1:c.249T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|481|249|83|V|gtG/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.249T>A|ENST00000354071.3:c.249T>A(p.%3D)||||||||||||||||||;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AMR=0;ExAC_AN_AFR=9050;ExAC_AN_AMR=11210;ExAC_AN_FIN=6614;ExAC_AN_OTH=694;ExAC_AC_AFR=0;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AC_Het=1;ExAC_AN_SAS=16398;ExAC_AN_Adj=106166;ExAC_AC_Hom=0;ExAC=17:41256937-41256937;ExAC_AC_Adj=1;ExAC_AC_EAS=1;ExAC_AC_SAS=0;ExAC_AN_NFE=54334;ExAC_AF=9.416e-06,9.416e-06;ExAC_AN_EAS=7866;ExAC_AN=106204;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.249G>A|p.Val83Val|481/7270|249/5655|83/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256939 brca1:p.V83C A C . . OLD_CLUMPED=chr17:41256939:AC/CA;CSQ=C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|328|169|57|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe57Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|440|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|479|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|366|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|338|106|36|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe36Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|338|106|36|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe36Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|479|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|346|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|266|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|282|169|57|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe57Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|408|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|441|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|441|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|349|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|349|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe83Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|479|247|83|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe83Val||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.247T>G|p.Val83Val|479/7270|247/5655|83/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256939 brca1:p.V83H A T . . OLD_CLUMPED=chr17:41256939:AC/TG;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|479|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.29)|possibly_damaging(0.879)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.247G>A|ENSP00000418960.2:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|328|169|57|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.31)|benign(0.403)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.169G>A|ENSP00000420781.1:p.Phe57Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|440|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.4)|probably_damaging(0.996)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.247G>A|ENSP00000419103.1:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|338|106|36|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.16)|probably_damaging(0.996)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.106G>A|ENSP00000418775.1:p.Phe36Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|338|106|36|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.28)|benign(0.443)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.106G>A|ENSP00000418819.1:p.Phe36Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|366|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.16)|probably_damaging(0.996)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.247G>A|ENSP00000350283.3:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|266|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.25)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.247G>A|ENSP00000338007.3:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|346|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.4)|possibly_damaging(0.646)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.247G>A|ENSP00000420705.2:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|479|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.26)|benign(0.198)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.247G>A|ENSP00000312236.5:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|349|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.27)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.247G>A|ENSP00000420412.1:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|349|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.24)|benign(0.199)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.247G>A|ENSP00000417554.1:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|479|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.26)|benign(0.069)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.247G>A|ENSP00000326002.6:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|441|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.36)|possibly_damaging(0.495)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.247G>A|ENSP00000246907.4:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|408|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.33)|probably_damaging(0.996)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.247G>A|ENSP00000419274.1:p.Phe83Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|282|169|57|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.2)|probably_damaging(0.935)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.169G>A|ENSP00000419988.1:p.Phe57Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|441|247|83|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.17)|benign(0.443)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.247G>A|ENSP00000417148.1:p.Phe83Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.247T>A|p.Val83Ile|479/7270|247/5655|83/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256940 brca1:p.V83C C A . . OLD_CLUMPED=chr17:41256939:AC/CA;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|478|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|345|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|265|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|440|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|281|168|56|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|440|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|407|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|478|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|348|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|348|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|327|168|56|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|439|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|478|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|365|246|82|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|337|105|35|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|337|105|35|L|ctG/ctT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.246G>T|p.Leu82Leu|478/7270|246/5655|82/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256940 brca1:p.V83H C G . . OLD_CLUMPED=chr17:41256939:AC/TG;CSQ=G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|281|168|56|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.168T>C|ENST00000477152.1:c.168T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|407|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.246T>C|ENST00000470026.1:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|440|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.246T>C|ENST00000346315.3:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|440|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.246T>C|ENST00000468300.1:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|348|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.246T>C|ENST00000476777.1:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|348|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.246T>C|ENST00000478531.1:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|478|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.246T>C|ENST00000354071.3:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|478|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.246T>C|ENST00000352993.3:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|345|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.246T>C|ENST00000491747.2:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|265|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.246T>C|ENST00000351666.3:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|365|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.246T>C|ENST00000357654.3:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|337|105|35|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.105T>C|ENST00000493795.1:c.105T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|337|105|35|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.105T>C|ENST00000493919.1:c.105T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|327|168|56|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.168T>C|ENST00000489037.1:c.168T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|439|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.246T>C|ENST00000494123.1:c.246T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|478|246|82|L|ctG/ctC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.246T>C|ENST00000471181.2:c.246T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.246G>C|p.Leu82Leu|478/7270|246/5655|82/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256941 brca1:p.L82P A G . . CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|364|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.245T>C|ENSP00000350283.3:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|336|104|35|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.104T>C|ENSP00000418819.1:p.Leu35Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|336|104|35|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.104T>C|ENSP00000418775.1:p.Leu35Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|438|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.245T>C|ENSP00000419103.1:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|326|167|56|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.997)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.167T>C|ENSP00000420781.1:p.Leu56Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|477|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.245T>C|ENSP00000418960.2:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|439|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.245T>C|ENSP00000417148.1:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|280|167|56|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.167T>C|ENSP00000419988.1:p.Leu56Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|439|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.972)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.245T>C|ENSP00000246907.4:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|406|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.245T>C|ENSP00000419274.1:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|477|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.245T>C|ENSP00000326002.6:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|347|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.245T>C|ENSP00000417554.1:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|347|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.245T>C|ENSP00000420412.1:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|477|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.245T>C|ENSP00000312236.5:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|344|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.245T>C|ENSP00000420705.2:p.Leu82Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|264|245|82|L/P|cTt/cCt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.245T>C|ENSP00000338007.3:p.Leu82Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.245T>C|p.Leu82Pro|477/7270|245/5655|82/1884|| chr17 41256941 brca1:p.L82R A C . . CSQ=C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|326|167|56|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.997)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.167T>G|ENSP00000420781.1:p.Leu56Arg||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|438|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.245T>G|ENSP00000419103.1:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|477|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.245T>G|ENSP00000418960.2:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|336|104|35|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.104T>G|ENSP00000418819.1:p.Leu35Arg||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|336|104|35|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.104T>G|ENSP00000418775.1:p.Leu35Arg||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|364|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.245T>G|ENSP00000350283.3:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|344|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.245T>G|ENSP00000420705.2:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|264|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.245T>G|ENSP00000338007.3:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|477|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.245T>G|ENSP00000312236.5:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|347|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.245T>G|ENSP00000417554.1:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|347|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.245T>G|ENSP00000420412.1:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|477|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.997)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.245T>G|ENSP00000326002.6:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|280|167|56|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.167T>G|ENSP00000419988.1:p.Leu56Arg||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|406|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.245T>G|ENSP00000419274.1:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|439|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.245T>G|ENSP00000246907.4:p.Leu82Arg||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|439|245|82|L/R|cTt/cGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.245T>G|ENSP00000417148.1:p.Leu82Arg||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.245T>G|p.Leu82Arg|477/7270|245/5655|82/1884|| chr17 41256942 brca1:p.L82A A G . . OLD_CLUMPED=chr17:41256942:AG/GC;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|476|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|325|166|56|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe56Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|437|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|335|103|35|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|335|103|35|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|363|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|263|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|343|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|476|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|476|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|346|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|346|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|438|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|405|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|438|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|279|166|56|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe56Leu||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.244T>C|p.Leu82Leu|476/7270|244/5655|82/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256942 brca1:p.L82D A T . . OLD_CLUMPED=chr17:41256942:AG/TC;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|476|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.244C>A|ENSP00000312236.5:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|343|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.993)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.244C>A|ENSP00000420705.2:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|263|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.244C>A|ENSP00000338007.3:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|438|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.94)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.244C>A|ENSP00000417148.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|279|166|56|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.166C>A|ENSP00000419988.1:p.Phe56Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|438|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.959)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.244C>A|ENSP00000246907.4:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|405|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.244C>A|ENSP00000419274.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|476|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.244C>A|ENSP00000326002.6:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|346|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.944)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.244C>A|ENSP00000417554.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|346|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.244C>A|ENSP00000420412.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|325|166|56|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|probably_damaging(0.936)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.166C>A|ENSP00000420781.1:p.Phe56Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|437|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.244C>A|ENSP00000419103.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|476|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.649)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.244C>A|ENSP00000418960.2:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|363|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.244C>A|ENSP00000350283.3:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|335|103|35|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.103C>A|ENSP00000418775.1:p.Phe35Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|335|103|35|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.993)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.103C>A|ENSP00000418819.1:p.Phe35Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.244T>A|p.Leu82Ile|476/7270|244/5655|82/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256942 brca1:p.L82G A C . . OLD_CLUMPED=chr17:41256942:AG/CC;CSQ=C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|335|103|35|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.103C>G|ENSP00000418775.1:p.Phe35Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|335|103|35|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.972)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.103C>G|ENSP00000418819.1:p.Phe35Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|363|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.244C>G|ENSP00000350283.3:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|476|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.287)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.244C>G|ENSP00000418960.2:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|325|166|56|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.08)|possibly_damaging(0.679)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.166C>G|ENSP00000420781.1:p.Phe56Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|437|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.244C>G|ENSP00000419103.1:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|476|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.244C>G|ENSP00000326002.6:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|346|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.244C>G|ENSP00000420412.1:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|346|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.06)|possibly_damaging(0.785)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.244C>G|ENSP00000417554.1:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|438|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.926)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.244C>G|ENSP00000417148.1:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|438|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.905)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.244C>G|ENSP00000246907.4:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|405|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.244C>G|ENSP00000419274.1:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|279|166|56|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.166C>G|ENSP00000419988.1:p.Phe56Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|263|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.244C>G|ENSP00000338007.3:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|343|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.95)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.244C>G|ENSP00000420705.2:p.Phe82Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|476|244|82|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.244C>G|ENSP00000312236.5:p.Phe82Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.244T>G|p.Leu82Val|476/7270|244/5655|82/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256942 brca1:p.L82N A T . . OLD_CLUMPED=chr17:41256942:AG/TT;CSQ=T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|476|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.244C>A|ENSP00000326002.6:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|346|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.944)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.244C>A|ENSP00000417554.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|346|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.244C>A|ENSP00000420412.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|438|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.94)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.244C>A|ENSP00000417148.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|279|166|56|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.952)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.166C>A|ENSP00000419988.1:p.Phe56Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|438|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.959)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.244C>A|ENSP00000246907.4:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|405|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.244C>A|ENSP00000419274.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|343|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.993)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.244C>A|ENSP00000420705.2:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|263|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.244C>A|ENSP00000338007.3:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|476|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.244C>A|ENSP00000312236.5:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|335|103|35|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.993)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.103C>A|ENSP00000418819.1:p.Phe35Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|335|103|35|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.103C>A|ENSP00000418775.1:p.Phe35Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|363|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.244C>A|ENSP00000350283.3:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|325|166|56|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|probably_damaging(0.936)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.166C>A|ENSP00000420781.1:p.Phe56Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|437|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.244C>A|ENSP00000419103.1:p.Phe82Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|476|244|82|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.649)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.244C>A|ENSP00000418960.2:p.Phe82Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.244T>A|p.Leu82Ile|476/7270|244/5655|82/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256942 brca1:p.L82T A G . . OLD_CLUMPED=chr17:41256942:AG/GT;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|363|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|335|103|35|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|335|103|35|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|325|166|56|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe56Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|437|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|476|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|279|166|56|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe56Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|405|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|438|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|438|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|346|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|346|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|476|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|476|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|343|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe82Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|263|244|82|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe82Leu||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.244T>C|p.Leu82Leu|476/7270|244/5655|82/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256943 brca1:p.L82A G C . . OLD_CLUMPED=chr17:41256942:AG/GC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|362|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.243A>G|ENSP00000350283.3:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|334|102|34|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.102A>G|ENSP00000418819.1:p.His34Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|334|102|34|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.102A>G|ENSP00000418775.1:p.His34Gln||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.243A>G|ENSP00000418960.2:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|436|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.243A>G|ENSP00000419103.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|324|165|55|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.165A>G|ENSP00000420781.1:p.His55Gln||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|437|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.243A>G|ENSP00000246907.4:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|404|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.243A>G|ENSP00000419274.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|278|165|55|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.165A>G|ENSP00000419988.1:p.His55Gln||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|437|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.243A>G|ENSP00000417148.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|345|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.243A>G|ENSP00000420412.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|345|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.243A>G|ENSP00000417554.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.243A>G|ENSP00000326002.6:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.243A>G|ENSP00000312236.5:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|262|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.243A>G|ENSP00000338007.3:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|342|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.243A>G|ENSP00000420705.2:p.His81Gln||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.243C>G|p.Gln81Gln|475/7270|243/5655|81/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256943 brca1:p.L82D G C . . OLD_CLUMPED=chr17:41256942:AG/TC;CSQ=C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|342|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.243A>G|ENSP00000420705.2:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|262|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.243A>G|ENSP00000338007.3:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.243A>G|ENSP00000312236.5:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|345|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.243A>G|ENSP00000417554.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|345|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.243A>G|ENSP00000420412.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.243A>G|ENSP00000326002.6:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|278|165|55|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.165A>G|ENSP00000419988.1:p.His55Gln||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|437|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.243A>G|ENSP00000246907.4:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|404|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.243A>G|ENSP00000419274.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|437|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.243A>G|ENSP00000417148.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|436|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.243A>G|ENSP00000419103.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|324|165|55|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.165A>G|ENSP00000420781.1:p.His55Gln||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.243A>G|ENSP00000418960.2:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|334|102|34|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.102A>G|ENSP00000418775.1:p.His34Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|334|102|34|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.102A>G|ENSP00000418819.1:p.His34Gln||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|362|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.243A>G|ENSP00000350283.3:p.His81Gln||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.243C>G|p.Gln81Gln|475/7270|243/5655|81/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256943 brca1:p.L82G G C . . OLD_CLUMPED=chr17:41256942:AG/CC;CSQ=C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|334|102|34|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.102A>G|ENSP00000418775.1:p.His34Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|334|102|34|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.102A>G|ENSP00000418819.1:p.His34Gln||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|362|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.243A>G|ENSP00000350283.3:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.243A>G|ENSP00000418960.2:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|324|165|55|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.165A>G|ENSP00000420781.1:p.His55Gln||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|436|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.243A>G|ENSP00000419103.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.243A>G|ENSP00000326002.6:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|345|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.243A>G|ENSP00000420412.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|345|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.243A>G|ENSP00000417554.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|437|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.243A>G|ENSP00000417148.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|437|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.243A>G|ENSP00000246907.4:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|404|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.243A>G|ENSP00000419274.1:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|278|165|55|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.165A>G|ENSP00000419988.1:p.His55Gln||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|262|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.243A>G|ENSP00000338007.3:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|342|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.243A>G|ENSP00000420705.2:p.His81Gln||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|475|243|81|H/Q|caC/caG|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.243A>G|ENSP00000312236.5:p.His81Gln||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.243C>G|p.Gln81Gln|475/7270|243/5655|81/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256943 brca1:p.L82N G T . . OLD_CLUMPED=chr17:41256942:AG/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|362|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|334|102|34|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.His34Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|334|102|34|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.His34Gln||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|324|165|55|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.His55Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|436|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|475|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|278|165|55|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.His55Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|404|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|437|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|437|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|345|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|345|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|475|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|475|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|342|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|262|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.His81Gln||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.243C>A|p.Gln81Gln|475/7270|243/5655|81/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256943 brca1:p.L82T G T . . OLD_CLUMPED=chr17:41256942:AG/GT;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|475|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|324|165|55|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.His55Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|436|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|334|102|34|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.His34Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|334|102|34|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.His34Gln||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|362|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|262|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|342|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|475|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|345|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|345|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|475|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|437|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|404|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.His81Gln||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|278|165|55|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.His55Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|437|243|81|H/Q|caC/caA|rs273899684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.His81Gln||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.243C>A|p.Gln81Gln|475/7270|243/5655|81/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256945 brca1:p.Q81T T G . . OLD_CLUMPED=chr17:41256945:TG/GT;CSQ=G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|435|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|435|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|402|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|276|163|55|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|473|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|343|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|343|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|473|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|260|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|340|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|360|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|332|100|34|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Lys34Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|332|100|34|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Lys34Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|473|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys81Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|322|163|55|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|434|241|81|K/Q|Aaa/Caa|rs80357350&CM044860||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys81Gln||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.241A>C|p.Gln81Gln|473/7270|241/5655|81/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256946 brca1:p.Q81T G T . . OLD_CLUMPED=chr17:41256945:TG/GT;CSQ=T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|342|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.2)|benign(0.232)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.240T>A|ENSP00000417554.1:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|342|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.27)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.240T>A|ENSP00000420412.1:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|472|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.01)|possibly_damaging(0.466)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.240T>A|ENSP00000326002.6:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|275|162|54|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.969)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.162T>A|ENSP00000419988.1:p.Ser54Arg||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|434|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.01)|benign(0.065)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.240T>A|ENSP00000246907.4:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|401|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.01)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.240T>A|ENSP00000419274.1:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|434|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.44)|possibly_damaging(0.709)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.240T>A|ENSP00000417148.1:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|339|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.17)|possibly_damaging(0.885)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.240T>A|ENSP00000420705.2:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|259|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.45)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.240T>A|ENSP00000338007.3:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|472|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.19)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.240T>A|ENSP00000312236.5:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|331|99|33|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.18)|possibly_damaging(0.771)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.99T>A|ENSP00000418819.1:p.Ser33Arg||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|331|99|33|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.99T>A|ENSP00000418775.1:p.Ser33Arg||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|359|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.240T>A|ENSP00000350283.3:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|321|162|54|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.16)|possibly_damaging(0.696)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.162T>A|ENSP00000420781.1:p.Ser54Arg||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|433|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.01)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.240T>A|ENSP00000419103.1:p.Ser80Arg||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|472|240|80|S/R|agC/agA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.01)|possibly_damaging(0.656)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.240T>A|ENSP00000418960.2:p.Ser80Arg||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.240C>A|p.Ser80Arg|472/7270|240/5655|80/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256948 brca1:p.S80D C T . . OLD_CLUMPED=chr17:41256948:CT/TC;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|357|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|329|97|33|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly33Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|329|97|33|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly33Ser||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|470|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|319|160|54|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly54Ser||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|431|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|432|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|399|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|432|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|273|160|54|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly54Ser||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|470|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|340|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|340|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|470|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|257|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|337|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly80Ser||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.238G>A|p.Ser80Ser|470/7270|238/5655|80/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256948 brca1:p.S80Y C T . . OLD_CLUMPED=chr17:41256948:CT/TA;CSQ=T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|431|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|319|160|54|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly54Ser||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|470|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|357|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|329|97|33|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly33Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|329|97|33|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly33Ser||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|470|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|337|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|257|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|273|160|54|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly54Ser||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|399|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|432|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|432|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|340|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|340|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly80Ser||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|470|238|80|G/S|Ggt/Agt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly80Ser||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.238G>A|p.Ser80Ser|470/7270|238/5655|80/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256949 brca1:p.S80D T C . . OLD_CLUMPED=chr17:41256948:CT/TC;CSQ=C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|431|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.237T>G|ENST00000468300.1:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|398|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.237T>G|ENST00000470026.1:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|431|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.237T>G|ENST00000346315.3:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|272|159|53|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.159T>G|ENST00000477152.1:c.159T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|469|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.237T>G|ENST00000354071.3:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|339|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.237T>G|ENST00000478531.1:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|339|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.237T>G|ENST00000476777.1:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|469|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.237T>G|ENST00000352993.3:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|256|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.237T>G|ENST00000351666.3:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|336|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.237T>G|ENST00000491747.2:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|356|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.237T>G|ENST00000357654.3:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|328|96|32|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.96T>G|ENST00000493795.1:c.96T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|328|96|32|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.96T>G|ENST00000493919.1:c.96T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|469|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.237T>G|ENST00000471181.2:c.237T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|318|159|53|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.159T>G|ENST00000489037.1:c.159T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|430|237|79|L|ttA/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.237T>G|ENST00000494123.1:c.237T>G(p.%3D)||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.237A>G|p.Phe79Leu|469/7270|237/5655|79/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256949 brca1:p.S80Y T A . . OLD_CLUMPED=chr17:41256948:CT/TA;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|469|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|336|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|256|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|431|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|272|159|53|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Leu53Phe||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|431|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|398|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|469|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|339|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|339|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|318|159|53|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Leu53Phe||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|430|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|469|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|356|237|79|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Leu79Phe||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|328|96|32|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Leu32Phe||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|328|96|32|L/F|ttA/ttT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Leu32Phe||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.237A>T|p.Phe79Phe|469/7270|237/5655|79/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256951 brca1:p.F79R A C . . OLD_CLUMPED=chr17:41256951:AA/CG;CSQ=C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|326|94|32|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.94T>G|ENSP00000418819.1:p.Phe32Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|326|94|32|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.94T>G|ENSP00000418775.1:p.Phe32Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|354|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.235T>G|ENSP00000350283.3:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|316|157|53|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.988)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.157T>G|ENSP00000420781.1:p.Phe53Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|428|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.235T>G|ENSP00000419103.1:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|467|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.891)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.235T>G|ENSP00000418960.2:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|337|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.979)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.235T>G|ENSP00000417554.1:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|337|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.235T>G|ENSP00000420412.1:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|467|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.979)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.235T>G|ENSP00000326002.6:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|270|157|53|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.932)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.157T>G|ENSP00000419988.1:p.Phe53Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|396|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.235T>G|ENSP00000419274.1:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|429|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.476)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.235T>G|ENSP00000246907.4:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|429|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.989)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.235T>G|ENSP00000417148.1:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|334|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.235T>G|ENSP00000420705.2:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|254|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.235T>G|ENSP00000338007.3:p.Phe79Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|467|235|79|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.504)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.235T>G|ENSP00000312236.5:p.Phe79Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.235T>G|p.Phe79Val|467/7270|235/5655|79/1884|| chr17 41256952 brca1:p.F79R A G . . OLD_CLUMPED=chr17:41256951:AA/CG;CSQ=G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|428|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.234A>C|ENST00000346315.3:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|395|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.234A>C|ENST00000470026.1:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|269|156|52|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.156A>C|ENST00000477152.1:c.156A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|428|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.234A>C|ENST00000468300.1:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|336|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.234A>C|ENST00000478531.1:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|336|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.234A>C|ENST00000476777.1:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|466|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.234A>C|ENST00000354071.3:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|466|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.234A>C|ENST00000352993.3:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|253|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.234A>C|ENST00000351666.3:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|333|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.234A>C|ENST00000491747.2:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|353|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.234A>C|ENST00000357654.3:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|325|93|31|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.93A>C|ENST00000493919.1:c.93A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|325|93|31|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.93A>C|ENST00000493795.1:c.93A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|466|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.234A>C|ENST00000471181.2:c.234A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|315|156|52|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.156A>C|ENST00000489037.1:c.156A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|427|234|78|S|agT/agC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.234A>C|ENST00000494123.1:c.234A>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.234T>C|p.Arg78Ser|466/7270|234/5655|78/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256953 brca1:p.R78T C G . . CSQ=G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|426|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.233G>C|ENSP00000419103.1:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|314|155|52|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.13)|probably_damaging(0.951)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.155G>C|ENSP00000420781.1:p.Arg52Thr||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|465|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.892)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.233G>C|ENSP00000418960.2:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|324|92|31|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.92G>C|ENSP00000418775.1:p.Arg31Thr||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|324|92|31|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.989)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.92G>C|ENSP00000418819.1:p.Arg31Thr||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|352|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.233G>C|ENSP00000350283.3:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|332|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.233G>C|ENSP00000420705.2:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|252|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.1)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.233G>C|ENSP00000338007.3:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|465|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.09)|benign(0.402)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.233G>C|ENSP00000312236.5:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|335|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.03)|possibly_damaging(0.883)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.233G>C|ENSP00000417554.1:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|335|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.233G>C|ENSP00000420412.1:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|465|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.806)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.233G>C|ENSP00000326002.6:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|268|155|52|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.95)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.155G>C|ENSP00000419988.1:p.Arg52Thr||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|394|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.233G>C|ENSP00000419274.1:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|427|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.04)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.233G>C|ENSP00000246907.4:p.Arg78Thr||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|427|233|78|R/T|aGa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.05)|probably_damaging(0.96)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.233G>C|ENSP00000417148.1:p.Arg78Thr||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.233G>C|p.Arg78Thr|465/7270|233/5655|78/1884|| chr17 41256954 brca1:p.R78Q C T . . OLD_CLUMPED=chr17:41256954:CT/TG;CSQ=T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|313|154|52|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly52Arg||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|425|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|464|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|323|91|31|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly31Arg||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|323|91|31|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly31Arg||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|351|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|331|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|251|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|464|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|464|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|334|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|334|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|426|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|267|154|52|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly52Arg||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|426|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly78Arg||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|393|232|78|G/R|Gga/Aga|rs80357884&CD982483||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly78Arg||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.232G>A|p.Arg78Arg|464/7270|232/5655|78/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256955 brca1:p.R78Q T G . . OLD_CLUMPED=chr17:41256954:CT/TG;CSQ=G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|322|90|30|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.90G>C|ENST00000493795.1:c.90G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|322|90|30|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.90G>C|ENST00000493919.1:c.90G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|350|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.231G>C|ENST00000357654.3:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|312|153|51|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.153G>C|ENST00000489037.1:c.153G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|424|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.231G>C|ENST00000494123.1:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|463|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.231G>C|ENST00000471181.2:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|463|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.231G>C|ENST00000354071.3:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|333|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.231G>C|ENST00000476777.1:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|333|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.231G>C|ENST00000478531.1:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|425|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.231G>C|ENST00000468300.1:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|266|153|51|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.153G>C|ENST00000477152.1:c.153G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|392|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.231G>C|ENST00000470026.1:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|425|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.231G>C|ENST00000346315.3:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|330|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.231G>C|ENST00000491747.2:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|250|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.231G>C|ENST00000351666.3:c.231G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|463|231|77|T|acA/acC|rs80356847||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.231G>C|ENST00000352993.3:c.231G>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.231A>C|p.Thr77Thr|463/7270|231/5655|77/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256960 brca1:p.S76F C A . . OLD_CLUMPED=chr17:41256960:CT/AA;CSQ=A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|328|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.992)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.226A>T|ENSP00000417554.1:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|328|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.226A>T|ENSP00000420412.1:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|458|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.965)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.226A>T|ENSP00000326002.6:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|261|148|50|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.996)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.148A>T|ENSP00000419988.1:p.Gly50Cys||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|387|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.226A>T|ENSP00000419274.1:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|420|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.171)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.226A>T|ENSP00000246907.4:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|420|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.991)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.226A>T|ENSP00000417148.1:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|325|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.226A>T|ENSP00000420705.2:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|245|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.226A>T|ENSP00000338007.3:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|458|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.843)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.226A>T|ENSP00000312236.5:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|317|85|29|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.85A>T|ENSP00000418775.1:p.Gly29Cys||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|317|85|29|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.85A>T|ENSP00000418819.1:p.Gly29Cys||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|345|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.226A>T|ENSP00000350283.3:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|307|148|50|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.03)|probably_damaging(0.998)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.148A>T|ENSP00000420781.1:p.Gly50Cys||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|419|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.226A>T|ENSP00000419103.1:p.Gly76Cys||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|458|226|76|G/C|Ggt/Tgt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.971)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.226A>T|ENSP00000418960.2:p.Gly76Cys||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.226G>T|p.Ser76Cys|458/7270|226/5655|76/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256961 brca1:p.S76F T A . . OLD_CLUMPED=chr17:41256960:CT/AA;CSQ=A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|316|84|28|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.02)|probably_damaging(0.996)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.84A>T|ENSP00000418775.1:p.Glu28Asp||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|316|84|28|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.07)|probably_damaging(0.984)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.84A>T|ENSP00000418819.1:p.Glu28Asp||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|344|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.02)|probably_damaging(0.996)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.225A>T|ENSP00000350283.3:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|306|147|49|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.04)|possibly_damaging(0.844)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.147A>T|ENSP00000420781.1:p.Glu49Asp||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|418|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.01)|probably_damaging(0.996)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.225A>T|ENSP00000419103.1:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|457|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.01)|possibly_damaging(0.721)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.225A>T|ENSP00000418960.2:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|457|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.01)|probably_damaging(0.98)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.225A>T|ENSP00000326002.6:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|327|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.03)|benign(0.114)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.225A>T|ENSP00000417554.1:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|327|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.09)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.225A>T|ENSP00000420412.1:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|419|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.04)|possibly_damaging(0.843)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.225A>T|ENSP00000417148.1:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|260|147|49|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.02)|probably_damaging(0.983)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.147A>T|ENSP00000419988.1:p.Glu49Asp||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|386|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.01)|probably_damaging(0.996)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.225A>T|ENSP00000419274.1:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|419|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|possibly_damaging(0.724)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.225A>T|ENSP00000246907.4:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|324|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.05)|probably_damaging(0.986)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.225A>T|ENSP00000420705.2:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|244|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.225A>T|ENSP00000338007.3:p.Glu75Asp||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|457|225|75|E/D|gaA/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.388)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.225A>T|ENSP00000312236.5:p.Glu75Asp||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.225A>T|p.Glu75Asp|457/7270|225/5655|75/1884|| chr17 41256962 brca1:p.E75A T G . . CSQ=G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|323|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.03)|probably_damaging(0.98)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.224A>C|ENSP00000420705.2:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|243|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.224A>C|ENSP00000338007.3:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|456|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.486)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.224A>C|ENSP00000312236.5:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|326|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|possibly_damaging(0.627)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.224A>C|ENSP00000417554.1:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|326|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.06)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.224A>C|ENSP00000420412.1:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|456|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.01)|probably_damaging(0.987)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.224A>C|ENSP00000326002.6:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|259|146|49|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.989)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.146A>C|ENSP00000419988.1:p.Glu49Ala||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|385|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.01)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.224A>C|ENSP00000419274.1:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|418|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|possibly_damaging(0.724)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.224A>C|ENSP00000246907.4:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|418|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.03)|probably_damaging(0.93)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.224A>C|ENSP00000417148.1:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|305|146|49|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.05)|possibly_damaging(0.736)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.146A>C|ENSP00000420781.1:p.Glu49Ala||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|417|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.01)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.224A>C|ENSP00000419103.1:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|456|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.01)|possibly_damaging(0.719)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.224A>C|ENSP00000418960.2:p.Glu75Ala||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|315|83|28|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.01)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.83A>C|ENSP00000418775.1:p.Glu28Ala||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|315|83|28|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.04)|probably_damaging(0.976)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.83A>C|ENSP00000418819.1:p.Glu28Ala||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|343|224|75|E/A|gAa/gCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.224A>C|ENSP00000350283.3:p.Glu75Ala||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.224A>C|p.Glu75Ala|456/7270|224/5655|75/1884|| chr17 41256963 brca1:p.E75S T G . . OLD_CLUMPED=chr17:41256963:TC/GA;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|455|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.607)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.223G>C|ENSP00000312236.5:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|242|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.223G>C|ENSP00000338007.3:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|322|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.223G>C|ENSP00000420705.2:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|384|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.01)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.223G>C|ENSP00000419274.1:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|417|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.01)|benign(0.243)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.223G>C|ENSP00000246907.4:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|258|145|49|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.992)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.145G>C|ENSP00000419988.1:p.Lys49Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|417|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.978)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.223G>C|ENSP00000417148.1:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|325|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.04)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.223G>C|ENSP00000420412.1:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|325|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.881)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.223G>C|ENSP00000417554.1:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|455|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.223G>C|ENSP00000326002.6:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|455|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.01)|probably_damaging(0.919)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.223G>C|ENSP00000418960.2:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|304|145|49|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|probably_damaging(0.975)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.145G>C|ENSP00000420781.1:p.Lys49Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|416|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.223G>C|ENSP00000419103.1:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|342|223|75|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.998)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.223G>C|ENSP00000350283.3:p.Lys75Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|314|82|28|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.03)|probably_damaging(0.993)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.82G>C|ENSP00000418819.1:p.Lys28Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|314|82|28|K/Q|Aaa/Caa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.01)|probably_damaging(0.998)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.82G>C|ENSP00000418775.1:p.Lys28Gln||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.223A>C|p.Glu75Gln|455/7270|223/5655|75/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256964 brca1:p.E75S C A . . OLD_CLUMPED=chr17:41256963:TC/GA;CSQ=A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|313|81|27|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.81A>T|ENSP00000418775.1:p.Gln27His||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|313|81|27|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|probably_damaging(0.98)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.81A>T|ENSP00000418819.1:p.Gln27His||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|341|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.222A>T|ENSP00000350283.3:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|454|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.943)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.222A>T|ENSP00000418960.2:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|415|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.222A>T|ENSP00000419103.1:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|303|144|48|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.955)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.144A>T|ENSP00000420781.1:p.Gln48His||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|324|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.222A>T|ENSP00000420412.1:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|324|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.921)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.222A>T|ENSP00000417554.1:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|454|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.849)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.222A>T|ENSP00000326002.6:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|416|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.922)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.222A>T|ENSP00000246907.4:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|383|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.222A>T|ENSP00000419274.1:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|257|144|48|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.992)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.144A>T|ENSP00000419988.1:p.Gln48His||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|416|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.973)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.222A>T|ENSP00000417148.1:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|241|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.222A>T|ENSP00000338007.3:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|321|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.988)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.222A>T|ENSP00000420705.2:p.Gln74His||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|454|222|74|Q/H|caG/caT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|benign(0.387)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.222A>T|ENSP00000312236.5:p.Gln74His||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.222G>T|p.Gln74His|454/7270|222/5655|74/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256966 brca1:p.Q74A T G . . OLD_CLUMPED=chr17:41256966:TG/GC;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|339|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|311|79|27|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Lys27Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|311|79|27|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Lys27Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|301|142|48|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys48Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|413|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|452|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|255|142|48|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys48Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|381|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|414|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|414|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|322|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|322|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|452|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|452|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|319|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|239|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys74Gln||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.220A>C|p.Gln74Gln|452/7270|220/5655|74/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256966 brca1:p.Q74T T G . . OLD_CLUMPED=chr17:41256966:TG/GT;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|339|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|311|79|27|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Lys27Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|311|79|27|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Lys27Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|452|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|413|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|301|142|48|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys48Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|381|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|414|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|255|142|48|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys48Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|414|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|322|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|322|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|452|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|452|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|239|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys74Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|319|220|74|K/Q|Aaa/Caa|rs80357234&CM970167||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys74Gln||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.220A>C|p.Gln74Gln|452/7270|220/5655|74/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256967 brca1:p.Q74A G C . . OLD_CLUMPED=chr17:41256966:TG/GC;CSQ=C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|451|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.219A>G|ENST00000471181.2:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|412|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.219A>G|ENST00000494123.1:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|300|141|47|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.141A>G|ENST00000489037.1:c.141A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|338|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.219A>G|ENST00000357654.3:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|310|78|26|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.78A>G|ENST00000493919.1:c.78A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|310|78|26|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.78A>G|ENST00000493795.1:c.78A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|451|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.219A>G|ENST00000352993.3:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|238|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.219A>G|ENST00000351666.3:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|318|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.219A>G|ENST00000491747.2:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|380|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.219A>G|ENST00000470026.1:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|413|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.219A>G|ENST00000346315.3:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|254|141|47|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.141A>G|ENST00000477152.1:c.141A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|413|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.219A>G|ENST00000468300.1:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|321|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.219A>G|ENST00000478531.1:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|321|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.219A>G|ENST00000476777.1:c.219A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|451|219|73|L|ctC/ctG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.219A>G|ENST00000354071.3:c.219A>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.219C>G|p.Leu73Leu|451/7270|219/5655|73/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256967 brca1:p.Q74T G T . . OLD_CLUMPED=chr17:41256966:TG/GT;CSQ=T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|300|141|47|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|412|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|451|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|338|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|310|78|26|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|310|78|26|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|451|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|318|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|238|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|254|141|47|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|380|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|413|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|413|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|321|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|321|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|451|219|73|L|ctC/ctA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.219C>A|p.Leu73Leu|451/7270|219/5655|73/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256968 brca1:p.L73P A G . . CSQ=G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|412|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.218T>C|ENSP00000417148.1:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|253|140|47|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.998)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.140T>C|ENSP00000419988.1:p.Leu47Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|412|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.931)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.218T>C|ENSP00000246907.4:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|379|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.218T>C|ENSP00000419274.1:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|450|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.218T>C|ENSP00000326002.6:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|320|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.218T>C|ENSP00000417554.1:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|320|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.218T>C|ENSP00000420412.1:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|450|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.218T>C|ENSP00000312236.5:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|317|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.218T>C|ENSP00000420705.2:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|237|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.218T>C|ENSP00000338007.3:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|337|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.218T>C|ENSP00000350283.3:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|309|77|26|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.77T>C|ENSP00000418819.1:p.Leu26Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|309|77|26|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.77T>C|ENSP00000418775.1:p.Leu26Pro||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|299|140|47|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.140T>C|ENSP00000420781.1:p.Leu47Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|411|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.218T>C|ENSP00000419103.1:p.Leu73Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|450|218|73|L/P|cTa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.925)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.218T>C|ENSP00000418960.2:p.Leu73Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.218T>C|p.Leu73Pro|450/7270|218/5655|73/1884|| chr17 41256968 brca1:p.L73Q A T . . CSQ=T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|299|140|47|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.140T>A|ENSP00000420781.1:p.Leu47Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|411|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.218T>A|ENSP00000419103.1:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|450|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.341)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.218T>A|ENSP00000418960.2:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|309|77|26|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.77T>A|ENSP00000418775.1:p.Leu26Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|309|77|26|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.77T>A|ENSP00000418819.1:p.Leu26Gln||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|337|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.218T>A|ENSP00000350283.3:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|317|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.218T>A|ENSP00000420705.2:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|237|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.218T>A|ENSP00000338007.3:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|450|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.218T>A|ENSP00000312236.5:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|450|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.218T>A|ENSP00000326002.6:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|320|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.218T>A|ENSP00000417554.1:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|320|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.218T>A|ENSP00000420412.1:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|412|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.218T>A|ENSP00000417148.1:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|253|140|47|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.998)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.140T>A|ENSP00000419988.1:p.Leu47Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|379|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.218T>A|ENSP00000419274.1:p.Leu73Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|412|218|73|L/Q|cTa/cAa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.868)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.218T>A|ENSP00000246907.4:p.Leu73Gln||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.218T>A|p.Leu73Gln|450/7270|218/5655|73/1884|| chr17 41256968 brca1:p.L73R A C . . CSQ=C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|450|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.997)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.218T>G|ENSP00000326002.6:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|320|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.218T>G|ENSP00000420412.1:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|320|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.218T>G|ENSP00000417554.1:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|412|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.218T>G|ENSP00000417148.1:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|379|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.218T>G|ENSP00000419274.1:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|412|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.171)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.218T>G|ENSP00000246907.4:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|253|140|47|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.998)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.140T>G|ENSP00000419988.1:p.Leu47Arg||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|237|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.218T>G|ENSP00000338007.3:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|317|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.218T>G|ENSP00000420705.2:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|450|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.883)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.218T>G|ENSP00000312236.5:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|309|77|26|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.77T>G|ENSP00000418819.1:p.Leu26Arg||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|309|77|26|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.77T>G|ENSP00000418775.1:p.Leu26Arg||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|337|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.218T>G|ENSP00000350283.3:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|450|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.822)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.218T>G|ENSP00000418960.2:p.Leu73Arg||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|299|140|47|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.140T>G|ENSP00000420781.1:p.Leu47Arg||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|411|218|73|L/R|cTa/cGa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.218T>G|ENSP00000419103.1:p.Leu73Arg||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.218T>G|p.Leu73Arg|450/7270|218/5655|73/1884|| chr17 41256969 brca1:p.L73V G C . . CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|336|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.217C>G|ENSP00000350283.3:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|308|76|26|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.997)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.76C>G|ENSP00000418775.1:p.Leu26Val||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|308|76|26|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.28)|probably_damaging(0.972)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.76C>G|ENSP00000418819.1:p.Leu26Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|449|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.337)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.217C>G|ENSP00000418960.2:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|298|139|47|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.06)|probably_damaging(0.999)|4/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.139C>G|ENSP00000420781.1:p.Leu47Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|410|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.217C>G|ENSP00000419103.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|411|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.724)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.217C>G|ENSP00000246907.4:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|378|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.217C>G|ENSP00000419274.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|252|139|47|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.987)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.139C>G|ENSP00000419988.1:p.Leu47Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|411|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.16)|probably_damaging(0.998)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.217C>G|ENSP00000417148.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|319|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.2)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.217C>G|ENSP00000420412.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|319|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.1)|possibly_damaging(0.833)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.217C>G|ENSP00000417554.1:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|449|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.217C>G|ENSP00000326002.6:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|449|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.17)|possibly_damaging(0.567)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.217C>G|ENSP00000312236.5:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|236|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.217C>G|ENSP00000338007.3:p.Leu73Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|316|217|73|L/V|Cta/Gta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.19)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.217C>G|ENSP00000420705.2:p.Leu73Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.217C>G|p.Leu73Val|449/7270|217/5655|73/1884|| chr17 41256971 brca1:p.S72I C A . . CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant&splice_region_variant|334|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.215G>T|ENSP00000350283.3:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant&splice_region_variant|306|74|25|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.74G>T|ENSP00000418819.1:p.Ser25Ile||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant&splice_region_variant|306|74|25|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.74G>T|ENSP00000418775.1:p.Ser25Ile||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant&splice_region_variant|296|137|46|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|4/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.137G>T|ENSP00000420781.1:p.Ser46Ile||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant&splice_region_variant|408|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.215G>T|ENSP00000419103.1:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant&splice_region_variant|447|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.656)|5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.215G>T|ENSP00000418960.2:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant&splice_region_variant|250|137|46|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.995)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.137G>T|ENSP00000419988.1:p.Ser46Ile||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant&splice_region_variant|376|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.215G>T|ENSP00000419274.1:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant&splice_region_variant|409|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.597)|5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.215G>T|ENSP00000246907.4:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant&splice_region_variant|409|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.215G>T|ENSP00000417148.1:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant&splice_region_variant|317|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.215G>T|ENSP00000417554.1:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant&splice_region_variant|317|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.215G>T|ENSP00000420412.1:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant&splice_region_variant|447|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.215G>T|ENSP00000326002.6:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant&splice_region_variant|447|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.607)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.215G>T|ENSP00000312236.5:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant&splice_region_variant|314|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.215G>T|ENSP00000420705.2:p.Ser72Ile||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant&splice_region_variant|234|215|72|S/I|aGc/aTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.215G>T|ENSP00000338007.3:p.Ser72Ile||||||||||||||||||;ANN=A|missense_variant&splice_region_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.215G>T|p.Ser72Ile|447/7270|215/5655|72/1884|| chr17 41256972 brca1:p.S72D C T . . OLD_CLUMPED=chr17:41256972:CT/TC;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant&splice_region_variant|333|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant&splice_region_variant|305|73|25|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly25Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant&splice_region_variant|305|73|25|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly25Ser||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant&splice_region_variant|407|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant&splice_region_variant|295|136|46|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly46Ser||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant&splice_region_variant|446|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant&splice_region_variant|408|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant&splice_region_variant|249|136|46|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly46Ser||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant&splice_region_variant|375|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant&splice_region_variant|408|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant&splice_region_variant|446|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|305|192|64|W/*|tgG/tgA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/7||||ENSP00000417988.1:p.Trp64Ter||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant&splice_region_variant|316|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant&splice_region_variant|316|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant&splice_region_variant|446|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant&splice_region_variant|313|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant&splice_region_variant|233|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|318|192|64|W/*|tgG/tgA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/23||||ENSP00000418548.1:p.Trp64Ter||||||||||||||||||;ANN=T|splice_region_variant&synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.214G>A|p.Ser72Ser|446/7270|214/5655|72/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256972 brca1:p.S72Y C T . . OLD_CLUMPED=chr17:41256972:CT/TA;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant&splice_region_variant|446|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant&splice_region_variant|313|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant&splice_region_variant|233|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|318|192|64|W/*|tgG/tgA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/23||||ENSP00000418548.1:p.Trp64Ter||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant&splice_region_variant|408|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant&splice_region_variant|249|136|46|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly46Ser||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant&splice_region_variant|408|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant&splice_region_variant|375|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant&splice_region_variant|446|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|305|192|64|W/*|tgG/tgA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/7||||ENSP00000417988.1:p.Trp64Ter||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant&splice_region_variant|316|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant&splice_region_variant|316|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant&splice_region_variant|295|136|46|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly46Ser||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant&splice_region_variant|407|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant&splice_region_variant|446|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant&splice_region_variant|333|214|72|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly72Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant&splice_region_variant|305|73|25|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly25Ser||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant&splice_region_variant|305|73|25|G/S|Ggc/Agc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly25Ser||||||||||||||||||;ANN=T|splice_region_variant&synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.214G>A|p.Ser72Ser|446/7270|214/5655|72/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256973 brca1:p.S72D T C . . OLD_CLUMPED=chr17:41256972:CT/TC;CSQ=C|ENSG00000012048|ENST00000493795|Transcript|splice_region_variant&synonymous_variant|304|72|24|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||4/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|splice_region_variant&synonymous_variant|304|72|24|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||4/17||Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|splice_region_variant&synonymous_variant|332|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||5/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|splice_region_variant&synonymous_variant|445|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||5/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|splice_region_variant&synonymous_variant|406|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|splice_region_variant&synonymous_variant|294|135|45|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||4/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|splice_region_variant&stop_retained_variant&NMD_transcript_variant|304|191|64|*|tAa/tGa|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/7||||||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|splice_region_variant&synonymous_variant|445|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||5/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|splice_region_variant&synonymous_variant|315|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||5/18||Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|splice_region_variant&synonymous_variant|315|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||5/9||Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|splice_region_variant&synonymous_variant|407|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|splice_region_variant&synonymous_variant|374|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||5/10||Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|splice_region_variant&synonymous_variant|407|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||5/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|splice_region_variant&synonymous_variant|248|135|45|K|aaA/aaG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||4/9||Superfamily_domains:SSF57850||||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|splice_region_variant&synonymous_variant|232|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|splice_region_variant&stop_retained_variant&NMD_transcript_variant|317|191|64|*|tAa/tGa|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/23||||||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|splice_region_variant&synonymous_variant|312|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|splice_region_variant&synonymous_variant|445|213|71|R|agA/agG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=C|splice_region_variant&synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.213A>G|p.Arg71Arg|445/7270|213/5655|71/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41256973 brca1:p.S72Y T A . . OLD_CLUMPED=chr17:41256972:CT/TA;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant&splice_region_variant|445|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.18)|benign(0.402)|5/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.213G>T|ENSP00000312236.5:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant&splice_region_variant|312|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.2)|possibly_damaging(0.907)|5/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.213G>T|ENSP00000420705.2:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant&splice_region_variant|232|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|4/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.213G>T|ENSP00000338007.3:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|stop_lost&splice_region_variant&NMD_transcript_variant|317|191|64|*/L|tAa/tTa|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/23|||ENST00000461221.1:c.191G>T|ENSP00000418548.1:p.Ter64LeuextTer16||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant&splice_region_variant|248|135|45|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.04)|benign(0.004)|4/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.135G>T|ENSP00000419988.1:p.Lys45Asn||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant&splice_region_variant|407|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.085)|5/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.213G>T|ENSP00000246907.4:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant&splice_region_variant|374|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.886)|5/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.213G>T|ENSP00000419274.1:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant&splice_region_variant|407|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.17)|possibly_damaging(0.841)|5/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.213G>T|ENSP00000417148.1:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant&splice_region_variant|315|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.11)|benign(0.411)|5/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.213G>T|ENSP00000417554.1:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant&splice_region_variant|315|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.21)||5/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.213G>T|ENSP00000420412.1:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant&splice_region_variant|445|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.985)|5/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.213G>T|ENSP00000326002.6:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|stop_lost&splice_region_variant&NMD_transcript_variant|304|191|64|*/L|tAa/tTa|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||5/7|||ENST00000461798.1:c.191G>T|ENSP00000417988.1:p.Ter64LeuextTer16||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant&splice_region_variant|406|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.886)|5/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.213G>T|ENSP00000419103.1:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant&splice_region_variant|294|135|45|K/N|aaA/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.03)|benign(0.177)|4/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.135G>T|ENSP00000420781.1:p.Lys45Asn||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant&splice_region_variant|445|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.04)|5/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.213G>T|ENSP00000418960.2:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant&splice_region_variant|332|213|71|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.886)|5/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.213G>T|ENSP00000350283.3:p.Arg71Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant&splice_region_variant|304|72|24|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.3)|possibly_damaging(0.723)|4/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.72G>T|ENSP00000418819.1:p.Arg24Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant&splice_region_variant|304|72|24|R/S|agA/agT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|possibly_damaging(0.886)|4/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.72G>T|ENSP00000418775.1:p.Arg24Ser||||||||||||||||||;ANN=A|missense_variant&splice_region_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|5/24|c.213A>T|p.Arg71Ser|445/7270|213/5655|71/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258476 brca1:p.K70T T G . . CSQ=G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|300|68|23|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|possibly_damaging(0.886)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.68A>C|ENSP00000418775.1:p.Lys23Thr||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|300|68|23|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.02)|probably_damaging(0.942)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.68A>C|ENSP00000418819.1:p.Lys23Thr||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|328|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.886)|4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.209A>C|ENSP00000350283.3:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|441|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.836)|4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.209A>C|ENSP00000418960.2:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|402|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.886)|4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.209A>C|ENSP00000419103.1:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|311|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.209A>C|ENSP00000420412.1:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|311|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.898)|4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.209A>C|ENSP00000417554.1:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|441|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.209A>C|ENSP00000326002.6:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|403|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.032)|4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.209A>C|ENSP00000246907.4:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|370|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.886)|4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.209A>C|ENSP00000419274.1:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|403|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.968)|4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.209A>C|ENSP00000417148.1:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|228|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.209A>C|ENSP00000338007.3:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|308|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|probably_damaging(0.961)|4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.209A>C|ENSP00000420705.2:p.Lys70Thr||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|441|209|70|K/T|aAa/aCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.607)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.209A>C|ENSP00000312236.5:p.Lys70Thr||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.209A>C|p.Lys70Thr|441/7270|209/5655|70/1884|| chr17 41258477 brca1:p.K70G T C . . OLD_CLUMPED=chr17:41258477:TT/CC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|327|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.886)|4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.208A>G|ENSP00000350283.3:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|299|67|23|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.03)|benign(0.298)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.67A>G|ENSP00000418819.1:p.Lys23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|299|67|23|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|possibly_damaging(0.886)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.67A>G|ENSP00000418775.1:p.Lys23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|440|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.621)|4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.208A>G|ENSP00000418960.2:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|401|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.886)|4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.208A>G|ENSP00000419103.1:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|402|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.948)|4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.208A>G|ENSP00000417148.1:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|402|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.48)|4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.208A>G|ENSP00000246907.4:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|369|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.886)|4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.208A>G|ENSP00000419274.1:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|440|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.987)|4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.208A>G|ENSP00000326002.6:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|310|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.02)||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.208A>G|ENSP00000420412.1:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|310|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.794)|4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.208A>G|ENSP00000417554.1:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|440|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.486)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.208A>G|ENSP00000312236.5:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|227|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.208A>G|ENSP00000338007.3:p.Lys70Glu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|307|208|70|K/E|Aaa/Gaa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|probably_damaging(0.946)|4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.208A>G|ENSP00000420705.2:p.Lys70Glu||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.208A>G|p.Lys70Glu|440/7270|208/5655|70/1884|| chr17 41258478 brca1:p.K70G T C . . OLD_CLUMPED=chr17:41258477:TT/CC;CSQ=C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|306|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.207C>G|ENST00000491747.2:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|226|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.207C>G|ENST00000351666.3:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|439|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.207C>G|ENST00000352993.3:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|309|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.207C>G|ENST00000476777.1:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|309|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.207C>G|ENST00000478531.1:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|439|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.207C>G|ENST00000354071.3:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|401|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.207C>G|ENST00000346315.3:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|368|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.207C>G|ENST00000470026.1:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|401|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.207C>G|ENST00000468300.1:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|400|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.207C>G|ENST00000494123.1:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|439|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.207C>G|ENST00000471181.2:c.207C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|298|66|22|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.66C>G|ENST00000493795.1:c.66C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|298|66|22|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.66C>G|ENST00000493919.1:c.66C>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|326|207|69|T|acA/acG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.207C>G|ENST00000357654.3:c.207C>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.207A>G|p.Thr69Thr|439/7270|207/5655|69/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258480 brca1:p.T69P T G . . CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|437|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.702)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.205A>C|ENSP00000312236.5:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|304|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.997)|4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.205A>C|ENSP00000420705.2:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|224|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.205A>C|ENSP00000338007.3:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|399|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.993)|4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.205A>C|ENSP00000417148.1:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|366|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.945)|4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.205A>C|ENSP00000419274.1:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|399|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.759)|4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.205A>C|ENSP00000246907.4:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|437|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.205A>C|ENSP00000326002.6:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|307|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.962)|4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.205A>C|ENSP00000417554.1:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|307|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.205A>C|ENSP00000420412.1:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|398|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.945)|4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.205A>C|ENSP00000419103.1:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|437|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.885)|4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.205A>C|ENSP00000418960.2:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|324|205|69|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.945)|4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.205A>C|ENSP00000350283.3:p.Thr69Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|296|64|22|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.945)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.64A>C|ENSP00000418775.1:p.Thr22Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|296|64|22|T/P|Acc/Ccc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|probably_damaging(0.987)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.64A>C|ENSP00000418819.1:p.Thr22Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.205A>C|p.Thr69Pro|437/7270|205/5655|69/1884|| chr17 41258483 brca1:p.I68E A T . . OLD_CLUMPED=chr17:41258483:AT/TC;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|434|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|221|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|301|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|363|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|396|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|396|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|304|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|304|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|434|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|434|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|395|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|321|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|293|61|21|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Leu21Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|293|61|21|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Leu21Ile||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.202T>A|p.Ile68Ile|434/7270|202/5655|68/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258483 brca1:p.I68Q A T . . OLD_CLUMPED=chr17:41258483:AT/TG;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|321|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|293|61|21|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Leu21Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|293|61|21|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Leu21Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|395|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|434|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|363|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|396|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|396|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|304|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|304|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|434|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|434|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|301|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Leu68Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|221|202|68|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Leu68Ile||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.202T>A|p.Ile68Ile|434/7270|202/5655|68/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258484 brca1:p.I68E T C . . OLD_CLUMPED=chr17:41258483:AT/TC;CSQ=C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|395|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.201T>G|ENST00000468300.1:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|395|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.201T>G|ENST00000346315.3:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|362|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.201T>G|ENST00000470026.1:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|433|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.201T>G|ENST00000354071.3:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|303|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.201T>G|ENST00000476777.1:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|303|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.201T>G|ENST00000478531.1:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|433|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.201T>G|ENST00000352993.3:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|300|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.201T>G|ENST00000491747.2:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|220|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.201T>G|ENST00000351666.3:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|320|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.201T>G|ENST00000357654.3:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|292|60|20|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.60T>G|ENST00000493795.1:c.60T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|292|60|20|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.60T>G|ENST00000493919.1:c.60T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|394|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.201T>G|ENST00000494123.1:c.201T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|433|201|67|E|gaA/gaG|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.201T>G|ENST00000471181.2:c.201T>G(p.%3D)||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.201A>G|p.Asp67Glu|433/7270|201/5655|67/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258484 brca1:p.I68Q T G . . OLD_CLUMPED=chr17:41258483:AT/TG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|433|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.201T>C|ENSP00000418960.2:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|394|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.201T>C|ENSP00000419103.1:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|320|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.201T>C|ENSP00000350283.3:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|292|60|20|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.60T>C|ENSP00000418775.1:p.Glu20Asp||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|292|60|20|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.60T>C|ENSP00000418819.1:p.Glu20Asp||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|433|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.201T>C|ENSP00000312236.5:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|220|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.201T>C|ENSP00000338007.3:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|300|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.201T>C|ENSP00000420705.2:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|395|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.201T>C|ENSP00000246907.4:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|362|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.201T>C|ENSP00000419274.1:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|395|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.201T>C|ENSP00000417148.1:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|303|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.201T>C|ENSP00000420412.1:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|303|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.201T>C|ENSP00000417554.1:p.Glu67Asp||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|433|201|67|E/D|gaA/gaC|rs80357033&CM021951||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.201T>C|ENSP00000326002.6:p.Glu67Asp||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.201A>C|p.Asp67Asp|433/7270|201/5655|67/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258486 brca1:p.D67T T G . . OLD_CLUMPED=chr17:41258486:TC/GT;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|318|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.08)|benign(0.01)|4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.199G>C|ENSP00000350283.3:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|290|58|20|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.02)|benign(0.009)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.58G>C|ENSP00000418819.1:p.Asn20His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|290|58|20|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.08)|benign(0.01)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.58G>C|ENSP00000418775.1:p.Asn20His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|431|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.07)|benign(0.015)|4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.199G>C|ENSP00000418960.2:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|392|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.08)|benign(0.01)|4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.199G>C|ENSP00000419103.1:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|393|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|benign(0.005)|4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.199G>C|ENSP00000417148.1:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|393|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.08)|benign(0.011)|4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.199G>C|ENSP00000246907.4:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|360|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.07)|benign(0.01)|4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.199G>C|ENSP00000419274.1:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|431|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.06)|benign(0.099)|4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.199G>C|ENSP00000326002.6:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|301|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.199G>C|ENSP00000420412.1:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|301|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.07)|benign(0.003)|4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.199G>C|ENSP00000417554.1:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|431|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.03)|probably_damaging(0.934)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.199G>C|ENSP00000312236.5:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|218|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.199G>C|ENSP00000338007.3:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|298|199|67|N/H|Aat/Cat|rs80357102||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|benign(0.012)|4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.199G>C|ENSP00000420705.2:p.Asn67His|A:0.0005||||A:0.0013|A:0|A:0.000233|||||||||||;ExAC_AC_AFR=0;ExAC_AN_OTH=670;ExAC_AC_NFE=7;ExAC_AC=8;ExAC_AN_FIN=6510;ExAC_AC_AMR=1;ExAC_AN_AMR=10962;ExAC_AN_AFR=8530;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AF=7.534e-05,7.534e-05;ExAC_AN=106182;ExAC_AN_EAS=7820;ExAC_AC_Adj=8;ExAC_AN_NFE=52654;ExAC_AC_SAS=0;ExAC_AC_EAS=0;ExAC_AC_Hom=0;ExAC=rs80357102;ExAC_AC_Het=8;ExAC_AN_SAS=16096;ExAC_AN_Adj=103242;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.199A>C|p.Asp67His|431/7270|199/5655|67/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258487 brca1:p.D67T C T . . OLD_CLUMPED=chr17:41258486:TC/GT;CSQ=T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|391|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.198T>A|ENST00000494123.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|430|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.198T>A|ENST00000471181.2:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|289|57|19|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.57T>A|ENST00000493919.1:c.57T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|289|57|19|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.57T>A|ENST00000493795.1:c.57T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|317|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.198T>A|ENST00000357654.3:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|297|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.198T>A|ENST00000491747.2:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|217|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.198T>A|ENST00000351666.3:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|430|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.198T>A|ENST00000352993.3:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|430|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.198T>A|ENST00000354071.3:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|300|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.198T>A|ENST00000476777.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|300|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.198T>A|ENST00000478531.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|392|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.198T>A|ENST00000468300.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|359|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.198T>A|ENST00000470026.1:c.198T>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|392|198|66|K|aaG/aaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.198T>A|ENST00000346315.3:c.198T>A(p.%3D)||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.198G>A|p.Asn66Lys|430/7270|198/5655|66/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258489 brca1:p.N66F T A . . OLD_CLUMPED=chr17:41258489:TT/AA;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|428|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|possibly_damaging(0.844)|4/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.196A>T|ENSP00000312236.5:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|295|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.946)|4/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.196A>T|ENSP00000420705.2:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|215|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|3/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.196A>T|ENSP00000338007.3:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|357|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|4/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.196A>T|ENSP00000419274.1:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|390|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.972)|4/19||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.196A>T|ENSP00000246907.4:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|390|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.968)|4/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.196A>T|ENSP00000417148.1:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|298|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.847)|4/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.196A>T|ENSP00000417554.1:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|298|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||4/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.196A>T|ENSP00000420412.1:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|428|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.932)|4/18||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.196A>T|ENSP00000326002.6:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|389|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|4/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.196A>T|ENSP00000419103.1:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|428|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.939)|4/24||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.196A>T|ENSP00000418960.2:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|315|196|66|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|4/23||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.196A>T|ENSP00000350283.3:p.Asn66Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|287|55|19|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.999)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.55A>T|ENSP00000418775.1:p.Asn19Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|287|55|19|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|probably_damaging(0.921)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.55A>T|ENSP00000418819.1:p.Asn19Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.196A>T|p.Asn66Tyr|428/7270|196/5655|66/1884|| chr17 41258490 brca1:p.N66F T A . . OLD_CLUMPED=chr17:41258489:TT/AA;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|427|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.607)|4/22||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.195G>T|ENSP00000312236.5:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|294|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|possibly_damaging(0.821)|4/23||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.195G>T|ENSP00000420705.2:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|214|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.195G>T|ENSP00000338007.3:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|356|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.952)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000470026.1:c.195G>T|ENSP00000419274.1:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|389|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.528)|4/19||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.195G>T|ENSP00000246907.4:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|389|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.954)|4/22||PROSITE_profiles:PS50089&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.195G>T|ENSP00000417148.1:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|297|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.06)|possibly_damaging(0.878)|4/9||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000476777.1:c.195G>T|ENSP00000417554.1:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|297|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000478531.1:c.195G>T|ENSP00000420412.1:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|427|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.195G>T|ENSP00000326002.6:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|388|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.952)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000494123.1:c.195G>T|ENSP00000419103.1:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|427|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.058)|4/24||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.195G>T|ENSP00000418960.2:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|314|195|65|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.952)|4/23||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.195G>T|ENSP00000350283.3:p.Lys65Asn||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|286|54|18|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.952)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.54G>T|ENSP00000418775.1:p.Lys18Asn||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|286|54|18|K/N|aaA/aaT|rs80357869&CD021778||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|possibly_damaging(0.688)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.54G>T|ENSP00000418819.1:p.Lys18Asn||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.195A>T|p.Lys65Asn|427/7270|195/5655|65/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258491 brca1:p.K65T T G . . CSQ=G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|296|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000478531.1:c.194A>C|ENSP00000420412.1:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|296|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.988)|4/9||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000476777.1:c.194A>C|ENSP00000417554.1:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|426|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.194A>C|ENSP00000326002.6:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|388|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.947)|4/19||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.194A>C|ENSP00000246907.4:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|355|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.952)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000470026.1:c.194A>C|ENSP00000419274.1:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|388|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.997)|4/22||PROSITE_profiles:PS50089&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.194A>C|ENSP00000417148.1:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|213|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.194A>C|ENSP00000338007.3:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|293|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.99)|4/23||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.194A>C|ENSP00000420705.2:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|426|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.607)|4/22||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.194A>C|ENSP00000312236.5:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|285|53|18|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.968)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.53A>C|ENSP00000418819.1:p.Lys18Thr||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|285|53|18|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.952)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.53A>C|ENSP00000418775.1:p.Lys18Thr||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|313|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.952)|4/23||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.194A>C|ENSP00000350283.3:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|426|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.73)|4/24||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.194A>C|ENSP00000418960.2:p.Lys65Thr||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|387|194|65|K/T|aAg/aCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.952)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000494123.1:c.194A>C|ENSP00000419103.1:p.Lys65Thr||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.194A>C|p.Lys65Thr|426/7270|194/5655|65/1884|| chr17 41258492 brca1:p.K65P T G . . OLD_CLUMPED=chr17:41258492:TT/GG;CSQ=G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|292|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.99)|4/23||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.193A>C|ENSP00000420705.2:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|212|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.193A>C|ENSP00000338007.3:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|425|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.607)|4/22||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.193A>C|ENSP00000312236.5:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|425|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.193A>C|ENSP00000326002.6:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|295|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.873)|4/9||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000476777.1:c.193A>C|ENSP00000417554.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|295|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000478531.1:c.193A>C|ENSP00000420412.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|387|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||PROSITE_profiles:PS50089&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.193A>C|ENSP00000417148.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|387|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.951)|4/19||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.193A>C|ENSP00000246907.4:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|354|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.935)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000470026.1:c.193A>C|ENSP00000419274.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|386|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.935)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000494123.1:c.193A>C|ENSP00000419103.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|425|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.73)|4/24||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.193A>C|ENSP00000418960.2:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|284|52|18|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.935)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.52A>C|ENSP00000418775.1:p.Lys18Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|284|52|18|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.979)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.52A>C|ENSP00000418819.1:p.Lys18Gln||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|312|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.935)|4/23||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.193A>C|ENSP00000350283.3:p.Lys65Gln||||||||||||||||||;ExAC_AN_EAS=7838;ExAC_AN=106186;ExAC_AF=9.417e-06,9.417e-06;ExAC_AC_SAS=0;ExAC_AC_EAS=0;ExAC_AN_NFE=52946;ExAC_AC_Adj=1;ExAC_AC_Hom=0;ExAC=17:41258492-41258492;ExAC_AN_Adj=103752;ExAC_AN_SAS=16172;ExAC_AC_Het=1;ExAC_AC_NFE=0;ExAC_AC=1;ExAC_AN_OTH=674;ExAC_AC_AFR=0;ExAC_AN_FIN=6530;ExAC_AN_AFR=8586;ExAC_AN_AMR=11006;ExAC_AC_AMR=0;ExAC_AC_OTH=1;ExAC_AC_FIN=0;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.193A>C|p.Lys65Gln|425/7270|193/5655|65/1884|| chr17 41258492 brca1:p.K65Q T G . . CSQ=G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|387|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.951)|4/19||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.193A>C|ENSP00000246907.4:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|354|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.935)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000470026.1:c.193A>C|ENSP00000419274.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|387|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||PROSITE_profiles:PS50089&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.193A>C|ENSP00000417148.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|295|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000478531.1:c.193A>C|ENSP00000420412.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|295|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.873)|4/9||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000476777.1:c.193A>C|ENSP00000417554.1:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|425|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.193A>C|ENSP00000326002.6:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|425|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.607)|4/22||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.193A>C|ENSP00000312236.5:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|212|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.193A>C|ENSP00000338007.3:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|292|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.99)|4/23||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.193A>C|ENSP00000420705.2:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|312|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.935)|4/23||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.193A>C|ENSP00000350283.3:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|284|52|18|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.979)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.52A>C|ENSP00000418819.1:p.Lys18Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|284|52|18|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.935)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.52A>C|ENSP00000418775.1:p.Lys18Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|425|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.73)|4/24||Prints_domain:PR00493&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.193A>C|ENSP00000418960.2:p.Lys65Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|386|193|65|K/Q|Aag/Cag|CD086263||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.935)|4/10||PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000494123.1:c.193A>C|ENSP00000419103.1:p.Lys65Gln||||||||||||||||||;ExAC_AC_Adj=1;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AN_NFE=52946;ExAC_AF=9.417e-06,9.417e-06;ExAC_AN_EAS=7838;ExAC_AN=106186;ExAC_AN_SAS=16172;ExAC_AC_Het=1;ExAC_AN_Adj=103752;ExAC_AC_Hom=0;ExAC=17:41258492-41258492;ExAC_AN_FIN=6530;ExAC_AN_OTH=674;ExAC_AC_AFR=0;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AC_OTH=1;ExAC_AC_FIN=0;ExAC_AC_AMR=0;ExAC_AN_AFR=8586;ExAC_AN_AMR=11006;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.193A>C|p.Lys65Gln|425/7270|193/5655|65/1884|| chr17 41258493 brca1:p.K65P T G . . OLD_CLUMPED=chr17:41258492:TT/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|stop_lost|424|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.192T>C|ENSP00000418960.2:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|stop_lost|385|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.192T>C|ENSP00000419103.1:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|stop_lost|311|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.192T>C|ENSP00000350283.3:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|stop_lost|283|51|17|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.51T>C|ENSP00000418819.1:p.Ter17CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|stop_lost|283|51|17|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.51T>C|ENSP00000418775.1:p.Ter17CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|stop_lost|424|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.192T>C|ENSP00000312236.5:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|stop_lost|211|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.192T>C|ENSP00000338007.3:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|stop_lost|291|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.192T>C|ENSP00000420705.2:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|stop_lost|386|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.192T>C|ENSP00000417148.1:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|stop_lost|353|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.192T>C|ENSP00000419274.1:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|stop_lost|386|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.192T>C|ENSP00000246907.4:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|stop_lost|424|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.192T>C|ENSP00000326002.6:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|stop_lost|294|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.192T>C|ENSP00000420412.1:p.Ter64CysextTer?||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|stop_lost|294|192|64|*/C|tgA/tgC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.192T>C|ENSP00000417554.1:p.Ter64CysextTer?||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.192A>C|p.Cys64Cys|424/7270|192/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258493 brca1:p.C64W A C . . CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|311|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.192T>G|ENSP00000350283.3:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|283|51|17|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.51T>G|ENSP00000418819.1:p.Cys17Trp||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|283|51|17|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.51T>G|ENSP00000418775.1:p.Cys17Trp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|385|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.192T>G|ENSP00000419103.1:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|424|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.993)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.192T>G|ENSP00000418960.2:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|353|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.192T>G|ENSP00000419274.1:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|386|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.99)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.192T>G|ENSP00000246907.4:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|386|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.192T>G|ENSP00000417148.1:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|294|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.192T>G|ENSP00000417554.1:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|294|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.192T>G|ENSP00000420412.1:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|424|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.995)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.192T>G|ENSP00000326002.6:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|424|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.827)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.192T>G|ENSP00000312236.5:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|291|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.192T>G|ENSP00000420705.2:p.Cys64Trp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|211|192|64|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.192T>G|ENSP00000338007.3:p.Cys64Trp||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.192T>G|p.Cys64Trp|424/7270|192/5655|64/1884|| chr17 41258494 brca1:p.C64F C A . . CSQ=A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|210|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.191G>T|ENSP00000338007.3:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|290|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.191G>T|ENSP00000420705.2:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|423|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.506)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.191G>T|ENSP00000312236.5:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|423|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.191G>T|ENSP00000326002.6:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|293|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.191G>T|ENSP00000420412.1:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|293|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.191G>T|ENSP00000417554.1:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|385|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.191G>T|ENSP00000417148.1:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|352|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.191G>T|ENSP00000419274.1:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|385|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.945)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.191G>T|ENSP00000246907.4:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|423|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.961)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.191G>T|ENSP00000418960.2:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|384|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.191G>T|ENSP00000419103.1:p.Cys64Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|282|50|17|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.50G>T|ENSP00000418775.1:p.Cys17Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|282|50|17|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.995)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.50G>T|ENSP00000418819.1:p.Cys17Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|310|191|64|C/F|tGt/tTt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.191G>T|ENSP00000350283.3:p.Cys64Phe||||||||pathogenic||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.191G>T|p.Cys64Phe|423/7270|191/5655|64/1884|| chr17 41258494 brca1:p.C64Y C T . . CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|310|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.191G>A|ENSP00000350283.3:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|282|50|17|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.50G>A|ENSP00000418775.1:p.Cys17Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|282|50|17|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.50G>A|ENSP00000418819.1:p.Cys17Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|423|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.961)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.191G>A|ENSP00000418960.2:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|384|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.191G>A|ENSP00000419103.1:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|385|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.191G>A|ENSP00000417148.1:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|385|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.972)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.191G>A|ENSP00000246907.4:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|352|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.191G>A|ENSP00000419274.1:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|423|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.191G>A|ENSP00000326002.6:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|293|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.191G>A|ENSP00000420412.1:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|293|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.191G>A|ENSP00000417554.1:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|423|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.191G>A|ENSP00000312236.5:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|210|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.191G>A|ENSP00000338007.3:p.Cys64Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|290|191|64|C/Y|tGt/tAt|rs55851803&CM960164||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.191G>A|ENSP00000420705.2:p.Cys64Tyr||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.191G>A|p.Cys64Tyr|423/7270|191/5655|64/1884|| chr17 41258495 brca1:p.C64A C G . . OLD_CLUMPED=chr17:41258495:CA/GC;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.190T>C|ENSP00000312236.5:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.190T>C|ENSP00000338007.3:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|316|190|64|G/R|Gga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23|||ENST00000461221.1:c.190T>C|ENSP00000418548.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.190T>C|ENSP00000420705.2:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.190T>C|ENSP00000419274.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.190T>C|ENSP00000246907.4:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.190T>C|ENSP00000417148.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.190T>C|ENSP00000420412.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.190T>C|ENSP00000417554.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|303|190|64|G/R|Gga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7|||ENST00000461798.1:c.190T>C|ENSP00000417988.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.190T>C|ENSP00000326002.6:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.822)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.190T>C|ENSP00000418960.2:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.190T>C|ENSP00000419103.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.190T>C|ENSP00000350283.3:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.49T>C|ENSP00000418775.1:p.Gly17Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.49T>C|ENSP00000418819.1:p.Gly17Arg||||||||other||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190G>C|p.Cys64Arg|422/7270|190/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258495 brca1:p.C64G A C . . CSQ=C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.190T>G|ENSP00000419103.1:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.9)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.190T>G|ENSP00000418960.2:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.997)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.49T>G|ENSP00000418819.1:p.Cys17Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.49T>G|ENSP00000418775.1:p.Cys17Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.190T>G|ENSP00000350283.3:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.190T>G|ENSP00000420705.2:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|stop_lost&splice_region_variant&NMD_transcript_variant|316|190|64|*/G|Tga/Gga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23|||ENST00000461221.1:c.190T>G|ENSP00000418548.1:p.Ter64GlyextTer16||||||||other||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.190T>G|ENSP00000338007.3:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.402)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.190T>G|ENSP00000312236.5:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|stop_lost&splice_region_variant&NMD_transcript_variant|303|190|64|*/G|Tga/Gga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7|||ENST00000461798.1:c.190T>G|ENSP00000417988.1:p.Ter64GlyextTer16||||||||other||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.190T>G|ENSP00000326002.6:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.190T>G|ENSP00000417554.1:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.190T>G|ENSP00000420412.1:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.190T>G|ENSP00000417148.1:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.190T>G|ENSP00000419274.1:p.Cys64Gly||||||||other||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|C/G|Tgt/Ggt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.905)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.190T>G|ENSP00000246907.4:p.Cys64Gly||||||||other||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190T>G|p.Cys64Gly|422/7270|190/5655|64/1884|| chr17 41258495 brca1:p.C64H C T . . OLD_CLUMPED=chr17:41258495:CA/TG;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.813)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.190T>A|ENSP00000418960.2:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.190T>A|ENSP00000419103.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.190T>A|ENSP00000350283.3:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.99)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.49T>A|ENSP00000418819.1:p.Gly17Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.49T>A|ENSP00000418775.1:p.Gly17Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.291)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.190T>A|ENSP00000312236.5:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.190T>A|ENSP00000338007.3:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|316|190|64|G/R|Gga/Aga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23|||ENST00000461221.1:c.190T>A|ENSP00000418548.1:p.Gly64Arg||||||||other||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.190T>A|ENSP00000420705.2:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.190T>A|ENSP00000419274.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.872)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.190T>A|ENSP00000246907.4:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.190T>A|ENSP00000417148.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.190T>A|ENSP00000420412.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.190T>A|ENSP00000417554.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.985)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.190T>A|ENSP00000326002.6:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|303|190|64|G/R|Gga/Aga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7|||ENST00000461798.1:c.190T>A|ENSP00000417988.1:p.Gly64Arg||||||||other||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190G>A|p.Cys64Ser|422/7270|190/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258495 brca1:p.C64I C A . . OLD_CLUMPED=chr17:41258495:CA/AT;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|316|190|64|G/*|Gga/Tga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||||ENSP00000418548.1:p.Gly64Ter||||||||other||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|303|190|64|G/*|Gga/Tga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||||ENSP00000417988.1:p.Gly64Ter||||||||other||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly17Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly17Cys||||||||other||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190G>T|p.Cys64Cys|422/7270|190/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258495 brca1:p.C64N C T . . OLD_CLUMPED=chr17:41258495:CA/TT;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.813)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.190T>A|ENSP00000418960.2:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.190T>A|ENSP00000419103.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.49T>A|ENSP00000418775.1:p.Gly17Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.99)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.49T>A|ENSP00000418819.1:p.Gly17Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.190T>A|ENSP00000350283.3:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.190T>A|ENSP00000338007.3:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|316|190|64|G/R|Gga/Aga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23|||ENST00000461221.1:c.190T>A|ENSP00000418548.1:p.Gly64Arg||||||||other||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.190T>A|ENSP00000420705.2:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.291)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.190T>A|ENSP00000312236.5:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.985)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.190T>A|ENSP00000326002.6:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|303|190|64|G/R|Gga/Aga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7|||ENST00000461798.1:c.190T>A|ENSP00000417988.1:p.Gly64Arg||||||||other||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.190T>A|ENSP00000420412.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.190T>A|ENSP00000417554.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.190T>A|ENSP00000417148.1:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.872)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.190T>A|ENSP00000246907.4:p.Gly64Ser||||||||other||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|G/S|Ggt/Agt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.190T>A|ENSP00000419274.1:p.Gly64Ser||||||||other||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190G>A|p.Cys64Ser|422/7270|190/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258495 brca1:p.C64P C G . . OLD_CLUMPED=chr17:41258495:CA/GG;CSQ=G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.190T>C|ENSP00000419103.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.822)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.190T>C|ENSP00000418960.2:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.49T>C|ENSP00000418819.1:p.Gly17Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.49T>C|ENSP00000418775.1:p.Gly17Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.190T>C|ENSP00000350283.3:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.190T>C|ENSP00000420705.2:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.190T>C|ENSP00000338007.3:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|316|190|64|G/R|Gga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23|||ENST00000461221.1:c.190T>C|ENSP00000418548.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.190T>C|ENSP00000312236.5:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.190T>C|ENSP00000326002.6:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|303|190|64|G/R|Gga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7|||ENST00000461798.1:c.190T>C|ENSP00000417988.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.190T>C|ENSP00000417554.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.190T>C|ENSP00000420412.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.190T>C|ENSP00000417148.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.190T>C|ENSP00000419274.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.190T>C|ENSP00000246907.4:p.Gly64Arg||||||||other||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190G>C|p.Cys64Arg|422/7270|190/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258495 brca1:p.C64R A G . . CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.190T>C|ENSP00000312236.5:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|stop_lost&splice_region_variant&NMD_transcript_variant|316|190|64|*/R|Tga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23|||ENST00000461221.1:c.190T>C|ENSP00000418548.1:p.Ter64ArgextTer16||||||||other||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.190T>C|ENSP00000338007.3:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.190T>C|ENSP00000420705.2:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.190T>C|ENSP00000417148.1:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.190T>C|ENSP00000246907.4:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.190T>C|ENSP00000419274.1:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.190T>C|ENSP00000326002.6:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|stop_lost&splice_region_variant&NMD_transcript_variant|303|190|64|*/R|Tga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7|||ENST00000461798.1:c.190T>C|ENSP00000417988.1:p.Ter64ArgextTer16||||||||other||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.190T>C|ENSP00000420412.1:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.190T>C|ENSP00000417554.1:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.822)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.190T>C|ENSP00000418960.2:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.190T>C|ENSP00000419103.1:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.190T>C|ENSP00000350283.3:p.Cys64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.49T>C|ENSP00000418775.1:p.Cys17Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|C/R|Tgt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.49T>C|ENSP00000418819.1:p.Cys17Arg||||||||other||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190T>C|p.Cys64Arg|422/7270|190/5655|64/1884|| chr17 41258495 brca1:p.C64T C G . . OLD_CLUMPED=chr17:41258495:CA/GT;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.190T>C|ENSP00000350283.3:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.49T>C|ENSP00000418775.1:p.Gly17Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.998)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.49T>C|ENSP00000418819.1:p.Gly17Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.822)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.190T>C|ENSP00000418960.2:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.190T>C|ENSP00000419103.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.190T>C|ENSP00000246907.4:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.190T>C|ENSP00000419274.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.190T>C|ENSP00000417148.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.190T>C|ENSP00000420412.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.190T>C|ENSP00000417554.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.190T>C|ENSP00000326002.6:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|303|190|64|G/R|Gga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7|||ENST00000461798.1:c.190T>C|ENSP00000417988.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.190T>C|ENSP00000312236.5:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.190T>C|ENSP00000338007.3:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|316|190|64|G/R|Gga/Cga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23|||ENST00000461221.1:c.190T>C|ENSP00000418548.1:p.Gly64Arg||||||||other||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|G/R|Ggt/Cgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.190T>C|ENSP00000420705.2:p.Gly64Arg||||||||other||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190G>C|p.Cys64Arg|422/7270|190/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258495 brca1:p.C64V C A . . OLD_CLUMPED=chr17:41258495:CA/AC;CSQ=A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|383|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|422|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|281|49|17|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly17Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|281|49|17|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly17Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|309|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|289|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|209|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|316|190|64|G/*|Gga/Tga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||||ENSP00000418548.1:p.Gly64Ter||||||||other||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|422|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|422|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|stop_gained&splice_region_variant&NMD_transcript_variant|303|190|64|G/*|Gga/Tga|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||||ENSP00000417988.1:p.Gly64Ter||||||||other||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|292|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|292|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|384|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|351|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly64Cys||||||||other||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|384|190|64|G/C|Ggt/Tgt|rs80357064&CM960165&CM940173||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly64Cys||||||||other||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.190G>T|p.Cys64Cys|422/7270|190/5655|64/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258496 brca1:p.C64A A C . . OLD_CLUMPED=chr17:41258495:CA/GC;CSQ=C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|382|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.189A>G|ENSP00000419103.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|421|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.189A>G|ENSP00000418960.2:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|280|48|16|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.48A>G|ENSP00000418775.1:p.Phe16Leu||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|280|48|16|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.48A>G|ENSP00000418819.1:p.Phe16Leu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|308|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.189A>G|ENSP00000350283.3:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|288|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.189A>G|ENSP00000420705.2:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|208|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.189A>G|ENSP00000338007.3:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|315|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.189A>G|ENSP00000418548.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|421|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.189A>G|ENSP00000312236.5:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|291|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.189A>G|ENSP00000417554.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|291|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.189A>G|ENSP00000420412.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|302|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.189A>G|ENSP00000417988.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|421|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.189A>G|ENSP00000326002.6:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|383|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.189A>G|ENSP00000246907.4:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|350|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.189A>G|ENSP00000419274.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|383|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.189A>G|ENSP00000417148.1:p.Phe63Leu||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.189T>G|p.Leu63Leu|421/7270|189/5655|63/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258496 brca1:p.C64H A G . . OLD_CLUMPED=chr17:41258495:CA/TG;CSQ=G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|382|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.189A>C|ENST00000494123.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|421|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.189A>C|ENST00000471181.2:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|308|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.189A>C|ENST00000357654.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|280|48|16|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.48A>C|ENST00000493919.1:c.48A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|280|48|16|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.48A>C|ENST00000493795.1:c.48A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|421|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.189A>C|ENST00000352993.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|288|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.189A>C|ENST00000491747.2:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|208|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.189A>C|ENST00000351666.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|splice_region_variant&synonymous_variant&NMD_transcript_variant|315|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.189A>C|ENST00000461221.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|350|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.189A>C|ENST00000470026.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|383|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.189A>C|ENST00000346315.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|383|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.189A>C|ENST00000468300.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|291|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.189A>C|ENST00000476777.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|291|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.189A>C|ENST00000478531.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|421|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.189A>C|ENST00000354071.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|splice_region_variant&synonymous_variant&NMD_transcript_variant|302|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.189A>C|ENST00000461798.1:c.189A>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.189T>C|p.Leu63Phe|421/7270|189/5655|63/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258496 brca1:p.C64I A T . . OLD_CLUMPED=chr17:41258495:CA/AT;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|382|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|280|48|16|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe16Leu||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|280|48|16|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe16Leu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|308|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|315|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|208|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|288|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|291|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|291|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|302|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|350|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|383|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|383|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe63Leu||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.189T>A|p.Leu63Leu|421/7270|189/5655|63/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258496 brca1:p.C64N A T . . OLD_CLUMPED=chr17:41258495:CA/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|308|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|280|48|16|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe16Leu||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|280|48|16|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe16Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|382|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|383|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|383|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|350|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|302|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|291|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|291|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|288|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|208|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|315|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Phe63Leu||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.189T>A|p.Leu63Leu|421/7270|189/5655|63/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258496 brca1:p.C64P A G . . OLD_CLUMPED=chr17:41258495:CA/GG;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|421|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.189A>C|ENST00000352993.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|208|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.189A>C|ENST00000351666.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|splice_region_variant&synonymous_variant&NMD_transcript_variant|315|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.189A>C|ENST00000461221.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|288|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.189A>C|ENST00000491747.2:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|383|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.189A>C|ENST00000468300.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|383|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.189A>C|ENST00000346315.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|350|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.189A>C|ENST00000470026.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|421|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.189A>C|ENST00000354071.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|splice_region_variant&synonymous_variant&NMD_transcript_variant|302|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.189A>C|ENST00000461798.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|291|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.189A>C|ENST00000478531.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|291|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.189A>C|ENST00000476777.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|421|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.189A>C|ENST00000471181.2:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|382|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.189A>C|ENST00000494123.1:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|308|189|63|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.189A>C|ENST00000357654.3:c.189A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|280|48|16|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.48A>C|ENST00000493919.1:c.48A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|280|48|16|F|ttT/ttC|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.48A>C|ENST00000493795.1:c.48A>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.189T>C|p.Leu63Phe|421/7270|189/5655|63/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258496 brca1:p.C64T A T . . OLD_CLUMPED=chr17:41258495:CA/GT;CSQ=T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|280|48|16|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Phe16Leu||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|280|48|16|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Phe16Leu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|308|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|382|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|302|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|291|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|291|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|383|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|383|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|350|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|288|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|315|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|208|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe63Leu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|421|189|63|F/L|ttT/ttA|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe63Leu||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.189T>A|p.Leu63Leu|421/7270|189/5655|63/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258496 brca1:p.C64V A C . . OLD_CLUMPED=chr17:41258495:CA/AC;CSQ=C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|421|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.189A>G|ENSP00000418960.2:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|382|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.189A>G|ENSP00000419103.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|280|48|16|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.48A>G|ENSP00000418819.1:p.Phe16Leu||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|280|48|16|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.48A>G|ENSP00000418775.1:p.Phe16Leu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|308|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.189A>G|ENSP00000350283.3:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|208|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.189A>G|ENSP00000338007.3:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|315|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.189A>G|ENSP00000418548.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|288|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.189A>G|ENSP00000420705.2:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|421|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.189A>G|ENSP00000312236.5:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|291|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.189A>G|ENSP00000420412.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|291|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.189A>G|ENSP00000417554.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|421|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.189A>G|ENSP00000326002.6:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|302|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.189A>G|ENSP00000417988.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|383|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.189A>G|ENSP00000246907.4:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|350|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.189A>G|ENSP00000419274.1:p.Phe63Leu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|383|189|63|F/L|ttT/ttG|rs80356956||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.189A>G|ENSP00000417148.1:p.Phe63Leu||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.189T>G|p.Leu63Leu|421/7270|189/5655|63/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258501 brca1:p.P62A G C . . CSQ=C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|203|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.184C>G|ENSP00000338007.3:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|310|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.964)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.184C>G|ENSP00000418548.1:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|283|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.996)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.184C>G|ENSP00000420705.2:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|416|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.728)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.184C>G|ENSP00000312236.5:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|286|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.184C>G|ENSP00000420412.1:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|286|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.03)|probably_damaging(0.943)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.184C>G|ENSP00000417554.1:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|416|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.01)|probably_damaging(0.996)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.184C>G|ENSP00000326002.6:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|297|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.964)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.184C>G|ENSP00000417988.1:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|345|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.01)|probably_damaging(0.964)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.184C>G|ENSP00000419274.1:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|378|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.01)|possibly_damaging(0.577)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.184C>G|ENSP00000246907.4:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|378|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.184C>G|ENSP00000417148.1:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|416|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.01)|possibly_damaging(0.572)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.184C>G|ENSP00000418960.2:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|377|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.01)|probably_damaging(0.964)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.184C>G|ENSP00000419103.1:p.Pro62Ala||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|275|43|15|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.01)|probably_damaging(0.964)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.43C>G|ENSP00000418775.1:p.Pro15Ala||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|275|43|15|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.991)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.43C>G|ENSP00000418819.1:p.Pro15Ala||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|303|184|62|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.964)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.184C>G|ENSP00000350283.3:p.Pro62Ala||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.184C>G|p.Pro62Ala|416/7270|184/5655|62/1884|| chr17 41258501 brca1:p.P62F G A . . OLD_CLUMPED=chr17:41258501:GG/AA;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|203|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.184C>T|ENSP00000338007.3:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|310|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.184C>T|ENSP00000418548.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|283|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.184C>T|ENSP00000420705.2:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|416|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.803)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.184C>T|ENSP00000312236.5:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|416|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.184C>T|ENSP00000326002.6:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|297|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.987)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.184C>T|ENSP00000417988.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|286|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.184C>T|ENSP00000420412.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|286|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.985)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.184C>T|ENSP00000417554.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|378|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.184C>T|ENSP00000417148.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|378|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.801)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.184C>T|ENSP00000246907.4:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|345|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.987)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.184C>T|ENSP00000419274.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|416|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.856)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.184C>T|ENSP00000418960.2:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|377|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.987)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.184C>T|ENSP00000419103.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|275|43|15|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.996)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.43C>T|ENSP00000418819.1:p.Pro15Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|275|43|15|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.987)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.43C>T|ENSP00000418775.1:p.Pro15Ser||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|303|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.184C>T|ENSP00000350283.3:p.Pro62Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.184C>T|p.Pro62Ser|416/7270|184/5655|62/1884|| chr17 41258501 brca1:p.P62V G A . . OLD_CLUMPED=chr17:41258501:GG/AC;CSQ=A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|377|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.987)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.184C>T|ENSP00000419103.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|416|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.856)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.184C>T|ENSP00000418960.2:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|275|43|15|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.996)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.43C>T|ENSP00000418819.1:p.Pro15Ser||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|275|43|15|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.987)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.43C>T|ENSP00000418775.1:p.Pro15Ser||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|303|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.184C>T|ENSP00000350283.3:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|283|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.184C>T|ENSP00000420705.2:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|203|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.184C>T|ENSP00000338007.3:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|310|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.184C>T|ENSP00000418548.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|416|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.803)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.184C>T|ENSP00000312236.5:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|416|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.184C>T|ENSP00000326002.6:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|297|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.987)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.184C>T|ENSP00000417988.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|286|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.985)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.184C>T|ENSP00000417554.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|286|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.184C>T|ENSP00000420412.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|378|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.184C>T|ENSP00000417148.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|345|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.987)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.184C>T|ENSP00000419274.1:p.Pro62Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|378|184|62|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.801)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.184C>T|ENSP00000246907.4:p.Pro62Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.184C>T|p.Pro62Ser|416/7270|184/5655|62/1884|| chr17 41258502 brca1:p.P62F G A . . OLD_CLUMPED=chr17:41258501:GG/AA;CSQ=A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|377|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|377|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|344|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|415|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|296|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|285|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|285|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|415|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|282|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|202|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|309|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|302|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|274|42|14|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|274|42|14|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|376|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|415|183|61|C|tgC/tgT|CD099628||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.183C>T|p.Cys61Cys|415/7270|183/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258502 brca1:p.P62V G C . . OLD_CLUMPED=chr17:41258501:GG/AC;CSQ=C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|415|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.993)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.183T>G|ENSP00000418960.2:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|376|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.183T>G|ENSP00000419103.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|302|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.183T>G|ENSP00000350283.3:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|274|42|14|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.42T>G|ENSP00000418819.1:p.Cys14Trp||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|274|42|14|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.42T>G|ENSP00000418775.1:p.Cys14Trp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|415|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.827)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.183T>G|ENSP00000312236.5:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|202|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.183T>G|ENSP00000338007.3:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|309|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.183T>G|ENSP00000418548.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|282|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.183T>G|ENSP00000420705.2:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|377|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.99)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.183T>G|ENSP00000246907.4:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|344|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.183T>G|ENSP00000419274.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|377|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.183T>G|ENSP00000417148.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|285|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.183T>G|ENSP00000420412.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|285|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.183T>G|ENSP00000417554.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|415|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.995)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.183T>G|ENSP00000326002.6:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|296|183|61|C/W|tgC/tgG|CD099628||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.183T>G|ENSP00000417988.1:p.Cys61Trp||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.183C>G|p.Cys61Trp|415/7270|183/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258502 brca1:p.C61W A C . . CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|302|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.183T>G|ENSP00000350283.3:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|274|42|14|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(1)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.42T>G|ENSP00000418819.1:p.Cys14Trp||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|274|42|14|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.42T>G|ENSP00000418775.1:p.Cys14Trp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|415|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.993)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.183T>G|ENSP00000418960.2:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|376|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.183T>G|ENSP00000419103.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|377|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.183T>G|ENSP00000417148.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|377|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.99)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.183T>G|ENSP00000246907.4:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|344|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.183T>G|ENSP00000419274.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|415|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.995)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.183T>G|ENSP00000326002.6:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|296|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.183T>G|ENSP00000417988.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|285|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.183T>G|ENSP00000420412.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|285|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.183T>G|ENSP00000417554.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|415|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.827)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.183T>G|ENSP00000312236.5:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|202|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.183T>G|ENSP00000338007.3:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|309|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.183T>G|ENSP00000418548.1:p.Cys61Trp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|282|183|61|C/W|tgT/tgG|CD099628||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.183T>G|ENSP00000420705.2:p.Cys61Trp||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.183T>G|p.Cys61Trp|415/7270|183/5655|61/1884|| chr17 41258503 brca1:p.C61F C A . . CSQ=A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|375|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.182G>T|ENSP00000419103.1:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|414|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.961)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.182G>T|ENSP00000418960.2:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|273|41|14|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.41G>T|ENSP00000418819.1:p.Cys14Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|273|41|14|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.41G>T|ENSP00000418775.1:p.Cys14Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|301|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.182G>T|ENSP00000350283.3:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|281|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.182G>T|ENSP00000420705.2:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|201|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.182G>T|ENSP00000338007.3:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|308|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.182G>T|ENSP00000418548.1:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|414|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.506)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.182G>T|ENSP00000312236.5:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|284|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.182G>T|ENSP00000417554.1:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|284|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.182G>T|ENSP00000420412.1:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|414|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.182G>T|ENSP00000326002.6:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|295|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.182G>T|ENSP00000417988.1:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|343|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.182G>T|ENSP00000419274.1:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|376|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.959)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.182G>T|ENSP00000246907.4:p.Cys61Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|376|182|61|C/F|tGt/tTt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.182G>T|ENSP00000417148.1:p.Cys61Phe||||||||pathogenic||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.182G>T|p.Cys61Phe|414/7270|182/5655|61/1884|| chr17 41258503 brca1:p.C61Y C T . . CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|414|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.961)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.182G>A|ENSP00000418960.2:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|375|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.182G>A|ENSP00000419103.1:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|301|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.182G>A|ENSP00000350283.3:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|273|41|14|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.41G>A|ENSP00000418819.1:p.Cys14Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|273|41|14|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.41G>A|ENSP00000418775.1:p.Cys14Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|414|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.182G>A|ENSP00000312236.5:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|201|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.182G>A|ENSP00000338007.3:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|308|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.182G>A|ENSP00000418548.1:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|281|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.182G>A|ENSP00000420705.2:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|376|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.182G>A|ENSP00000417148.1:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|376|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.972)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.182G>A|ENSP00000246907.4:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|343|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.182G>A|ENSP00000419274.1:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|414|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.182G>A|ENSP00000326002.6:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|295|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.182G>A|ENSP00000417988.1:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|284|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.182G>A|ENSP00000420412.1:p.Cys61Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|284|182|61|C/Y|tGt/tAt|rs80357093&CM041688||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.182G>A|ENSP00000417554.1:p.Cys61Tyr||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.182G>A|p.Cys61Tyr|414/7270|182/5655|61/1884|| chr17 41258504 brca1:p.C61A C G . . OLD_CLUMPED=chr17:41258504:CA/GC;CSQ=G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.181T>C|ENSP00000419274.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.181T>C|ENSP00000246907.4:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.181T>C|ENSP00000417148.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.181T>C|ENSP00000420412.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.181T>C|ENSP00000417554.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.181T>C|ENSP00000326002.6:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.181T>C|ENSP00000417988.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.181T>C|ENSP00000312236.5:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.181T>C|ENSP00000338007.3:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.181T>C|ENSP00000418548.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.181T>C|ENSP00000420705.2:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.181T>C|ENSP00000350283.3:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.40T>C|ENSP00000418819.1:p.Gly14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.40T>C|ENSP00000418775.1:p.Gly14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.943)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.181T>C|ENSP00000418960.2:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.181T>C|ENSP00000419103.1:p.Gly61Arg||||||||other||18974877&17719744||||||||;ExAC_AC_AMR=0;ExAC_AN_AMR=11038;ExAC_AN_AFR=8610;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN_OTH=680;ExAC_AC_AFR=0;ExAC_AC_NFE=3;ExAC_AC=3;ExAC_AN_FIN=6540;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AC_Het=3;ExAC_AN_SAS=16200;ExAC_AN_Adj=104080;ExAC_AF=2.825e-05,2.825e-05;ExAC_AN=106192;ExAC_AN_EAS=7846;ExAC_AC_Adj=3;ExAC_AN_NFE=53166;ExAC_AC_SAS=0;ExAC_AC_EAS=0;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181G>C|p.Cys61Arg|413/7270|181/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258504 brca1:p.C61G A C . . CSQ=C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.9)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.181T>G|ENSP00000418960.2:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.181T>G|ENSP00000419103.1:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.181T>G|ENSP00000350283.3:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.40T>G|ENSP00000418819.1:p.Cys14Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.40T>G|ENSP00000418775.1:p.Cys14Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.402)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.181T>G|ENSP00000312236.5:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.181T>G|ENSP00000338007.3:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.181T>G|ENSP00000418548.1:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.181T>G|ENSP00000420705.2:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.181T>G|ENSP00000419274.1:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.783)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.181T>G|ENSP00000246907.4:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.181T>G|ENSP00000417148.1:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.181T>G|ENSP00000420412.1:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.181T>G|ENSP00000417554.1:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.181T>G|ENSP00000326002.6:p.Cys61Gly||||||||other||18974877&17719744||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|C/G|Tgt/Ggt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.181T>G|ENSP00000417988.1:p.Cys61Gly||||||||other||18974877&17719744||||||||;ExAC_AC_NFE=3;ExAC_AC=3;ExAC_AC_AFR=0;ExAC_AN_OTH=680;ExAC_AN_FIN=6540;ExAC_AN_AMR=11038;ExAC_AN_AFR=8610;ExAC_AC_AMR=0;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN=106192;ExAC_AN_EAS=7846;ExAC_AF=2.825e-05,2.825e-05;ExAC_AN_NFE=53166;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AC_Adj=3;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AN_Adj=104080;ExAC_AC_Het=3;ExAC_AN_SAS=16200;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181T>G|p.Cys61Gly|413/7270|181/5655|61/1884|| chr17 41258504 brca1:p.C61H C T . . OLD_CLUMPED=chr17:41258504:CA/TG;CSQ=T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.40T>A|ENSP00000418775.1:p.Gly14Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.40T>A|ENSP00000418819.1:p.Gly14Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.181T>A|ENSP00000350283.3:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.856)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.181T>A|ENSP00000418960.2:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.181T>A|ENSP00000419103.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.985)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.181T>A|ENSP00000326002.6:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.181T>A|ENSP00000417988.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.181T>A|ENSP00000420412.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.181T>A|ENSP00000417554.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.181T>A|ENSP00000417148.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.288)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.181T>A|ENSP00000246907.4:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.181T>A|ENSP00000419274.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.181T>A|ENSP00000338007.3:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.181T>A|ENSP00000418548.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.181T>A|ENSP00000420705.2:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.291)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.181T>A|ENSP00000312236.5:p.Gly61Ser||||||||other||18974877&17719744||||||||;ExAC_AC_NFE=3;ExAC_AC=3;ExAC_AN_OTH=680;ExAC_AC_AFR=0;ExAC_AN_FIN=6540;ExAC_AN_AFR=8610;ExAC_AN_AMR=11038;ExAC_AC_AMR=0;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AN_EAS=7846;ExAC_AN=106192;ExAC_AF=2.825e-05,2.825e-05;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AN_NFE=53166;ExAC_AC_Adj=3;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AN_Adj=104080;ExAC_AC_Het=3;ExAC_AN_SAS=16200;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181G>A|p.Cys61Ser|413/7270|181/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258504 brca1:p.C61I C A . . OLD_CLUMPED=chr17:41258504:CA/AT;CSQ=A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly14Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly14Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly61Cys||||||||other||18974877&17719744||||||||;ExAC_AC_AFR=0;ExAC_AN_OTH=680;ExAC_AC_NFE=3;ExAC_AC=3;ExAC_AN_FIN=6540;ExAC_AC_AMR=0;ExAC_AN_AFR=8610;ExAC_AN_AMR=11038;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AF=2.825e-05,2.825e-05;ExAC_AN_EAS=7846;ExAC_AN=106192;ExAC_AC_Adj=3;ExAC_AC_SAS=0;ExAC_AC_EAS=0;ExAC_AN_NFE=53166;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AN_SAS=16200;ExAC_AC_Het=3;ExAC_AN_Adj=104080;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181G>T|p.Cys61Cys|413/7270|181/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258504 brca1:p.C61N C T . . OLD_CLUMPED=chr17:41258504:CA/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.181T>A|ENSP00000350283.3:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.40T>A|ENSP00000418775.1:p.Gly14Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.40T>A|ENSP00000418819.1:p.Gly14Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.181T>A|ENSP00000419103.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.856)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.181T>A|ENSP00000418960.2:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.288)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.181T>A|ENSP00000246907.4:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.181T>A|ENSP00000419274.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.181T>A|ENSP00000417148.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.181T>A|ENSP00000417554.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.181T>A|ENSP00000420412.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.181T>A|ENSP00000417988.1:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.985)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.181T>A|ENSP00000326002.6:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.291)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.181T>A|ENSP00000312236.5:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.181T>A|ENSP00000420705.2:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.181T>A|ENSP00000338007.3:p.Gly61Ser||||||||other||18974877&17719744||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|G/S|Ggt/Agt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.181T>A|ENSP00000418548.1:p.Gly61Ser||||||||other||18974877&17719744||||||||;ExAC_AN_EAS=7846;ExAC_AN=106192;ExAC_AF=2.825e-05,2.825e-05;ExAC_AC_SAS=0;ExAC_AC_EAS=0;ExAC_AN_NFE=53166;ExAC_AC_Adj=3;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AN_Adj=104080;ExAC_AN_SAS=16200;ExAC_AC_Het=3;ExAC_AC=3;ExAC_AC_NFE=3;ExAC_AN_OTH=680;ExAC_AC_AFR=0;ExAC_AN_FIN=6540;ExAC_AN_AFR=8610;ExAC_AN_AMR=11038;ExAC_AC_AMR=0;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181G>A|p.Cys61Ser|413/7270|181/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258504 brca1:p.C61P C G . . OLD_CLUMPED=chr17:41258504:CA/GG;CSQ=G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.181T>C|ENSP00000417554.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.181T>C|ENSP00000420412.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.181T>C|ENSP00000326002.6:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.181T>C|ENSP00000417988.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.181T>C|ENSP00000419274.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.181T>C|ENSP00000246907.4:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.181T>C|ENSP00000417148.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.181T>C|ENSP00000420705.2:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.181T>C|ENSP00000338007.3:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.181T>C|ENSP00000418548.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.181T>C|ENSP00000312236.5:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.40T>C|ENSP00000418775.1:p.Gly14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.40T>C|ENSP00000418819.1:p.Gly14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.181T>C|ENSP00000350283.3:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.181T>C|ENSP00000419103.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.943)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.181T>C|ENSP00000418960.2:p.Gly61Arg||||||||other||18974877&17719744||||||||;ExAC_AF=2.825e-05,2.825e-05;ExAC_AN=106192;ExAC_AN_EAS=7846;ExAC_AC_Adj=3;ExAC_AN_NFE=53166;ExAC_AC_SAS=0;ExAC_AC_EAS=0;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AN_SAS=16200;ExAC_AC_Het=3;ExAC_AN_Adj=104080;ExAC_AN_OTH=680;ExAC_AC_AFR=0;ExAC_AC=3;ExAC_AC_NFE=3;ExAC_AN_FIN=6540;ExAC_AC_AMR=0;ExAC_AN_AMR=11038;ExAC_AN_AFR=8610;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181G>C|p.Cys61Arg|413/7270|181/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258504 brca1:p.C61R A G . . CSQ=G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.40T>C|ENSP00000418775.1:p.Cys14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.40T>C|ENSP00000418819.1:p.Cys14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.181T>C|ENSP00000350283.3:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.943)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.181T>C|ENSP00000418960.2:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.181T>C|ENSP00000419103.1:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.181T>C|ENSP00000326002.6:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.181T>C|ENSP00000417988.1:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.181T>C|ENSP00000420412.1:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.181T>C|ENSP00000417554.1:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.181T>C|ENSP00000417148.1:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.181T>C|ENSP00000246907.4:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.181T>C|ENSP00000419274.1:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.181T>C|ENSP00000338007.3:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.181T>C|ENSP00000418548.1:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.181T>C|ENSP00000420705.2:p.Cys61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|C/R|Tgt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.181T>C|ENSP00000312236.5:p.Cys61Arg||||||||other||18974877&17719744||||||||;ExAC_AN_SAS=16200;ExAC_AC_Het=3;ExAC_AN_Adj=104080;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AC_Adj=3;ExAC_AN_NFE=53166;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AF=2.825e-05,2.825e-05;ExAC_AN=106192;ExAC_AN_EAS=7846;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AC_AMR=0;ExAC_AN_AMR=11038;ExAC_AN_AFR=8610;ExAC_AN_FIN=6540;ExAC_AC_AFR=0;ExAC_AN_OTH=680;ExAC_AC=3;ExAC_AC_NFE=3;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181T>C|p.Cys61Arg|413/7270|181/5655|61/1884|| chr17 41258504 brca1:p.C61T C G . . OLD_CLUMPED=chr17:41258504:CA/GT;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.181T>C|ENSP00000350283.3:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(1)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.40T>C|ENSP00000418775.1:p.Gly14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.999)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.40T>C|ENSP00000418819.1:p.Gly14Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.943)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.181T>C|ENSP00000418960.2:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.181T>C|ENSP00000419103.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.181T>C|ENSP00000417148.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.181T>C|ENSP00000419274.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.181T>C|ENSP00000246907.4:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.181T>C|ENSP00000326002.6:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.181T>C|ENSP00000417988.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.181T>C|ENSP00000420412.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.181T>C|ENSP00000417554.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.181T>C|ENSP00000312236.5:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.181T>C|ENSP00000338007.3:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.181T>C|ENSP00000418548.1:p.Gly61Arg||||||||other||18974877&17719744||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|G/R|Ggt/Cgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.181T>C|ENSP00000420705.2:p.Gly61Arg||||||||other||18974877&17719744||||||||;ExAC_AN_SAS=16200;ExAC_AC_Het=3;ExAC_AN_Adj=104080;ExAC=rs28897672;ExAC_AC_Hom=0;ExAC_AC_Adj=3;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AN_NFE=53166;ExAC_AF=2.825e-05,2.825e-05;ExAC_AN_EAS=7846;ExAC_AN=106192;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AMR=0;ExAC_AN_AFR=8610;ExAC_AN_AMR=11038;ExAC_AN_FIN=6540;ExAC_AC_AFR=0;ExAC_AN_OTH=680;ExAC_AC=3;ExAC_AC_NFE=3;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181G>C|p.Cys61Arg|413/7270|181/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258504 brca1:p.C61V C A . . OLD_CLUMPED=chr17:41258504:CA/AC;CSQ=A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|413|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|294|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|283|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|283|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|375|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|342|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|375|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|280|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|200|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|307|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|413|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|272|40|14|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.Gly14Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|272|40|14|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.Gly14Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|300|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|374|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly61Cys||||||||other||18974877&17719744||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|413|181|61|G/C|Ggt/Tgt|rs28897672&CM093550&CM940172||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly61Cys||||||||other||18974877&17719744||||||||;ExAC_AN_SAS=16200;ExAC_AC_Het=3;ExAC_AN_Adj=104080;ExAC_AC_Hom=0;ExAC=rs28897672;ExAC_AC_Adj=3;ExAC_AN_NFE=53166;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AF=2.825e-05,2.825e-05;ExAC_AN=106192;ExAC_AN_EAS=7846;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AC_AMR=0;ExAC_AN_AMR=11038;ExAC_AN_AFR=8610;ExAC_AN_FIN=6540;ExAC_AN_OTH=680;ExAC_AC_AFR=0;ExAC_AC=3;ExAC_AC_NFE=3;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.181G>T|p.Cys61Cys|413/7270|181/5655|61/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258505 brca1:p.C61A A C . . OLD_CLUMPED=chr17:41258504:CA/GC;CSQ=C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|412|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|199|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|306|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|279|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|374|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|341|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|374|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|282|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|282|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|412|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|293|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|412|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|373|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|299|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|271|39|13|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.His13Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|271|39|13|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.His13Gln||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.180T>G|p.Gln60Gln|412/7270|180/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258505 brca1:p.C61H A G . . OLD_CLUMPED=chr17:41258504:CA/TG;CSQ=G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|374|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.180G>C|ENST00000468300.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|341|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.180G>C|ENST00000470026.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|374|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.180G>C|ENST00000346315.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|412|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.180G>C|ENST00000354071.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|293|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.180G>C|ENST00000461798.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|282|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.180G>C|ENST00000476777.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|282|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.180G>C|ENST00000478531.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|412|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.180G>C|ENST00000352993.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|279|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.180G>C|ENST00000491747.2:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|199|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.180G>C|ENST00000351666.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|306|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.180G>C|ENST00000461221.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|299|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.180G>C|ENST00000357654.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|271|39|13|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.39G>C|ENST00000493795.1:c.39G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|271|39|13|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.39G>C|ENST00000493919.1:c.39G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|373|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.180G>C|ENST00000494123.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|412|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.180G>C|ENST00000471181.2:c.180G>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.180T>C|p.Gln60His|412/7270|180/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258505 brca1:p.C61I A T . . OLD_CLUMPED=chr17:41258504:CA/AT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|299|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.180G>A|ENSP00000350283.3:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|271|39|13|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.39G>A|ENSP00000418819.1:p.His13Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|271|39|13|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.39G>A|ENSP00000418775.1:p.His13Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|373|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.180G>A|ENSP00000419103.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.180G>A|ENSP00000418960.2:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|374|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.180G>A|ENSP00000246907.4:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|341|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.180G>A|ENSP00000419274.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|374|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.180G>A|ENSP00000417148.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|282|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.180G>A|ENSP00000417554.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|282|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.180G>A|ENSP00000420412.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.180G>A|ENSP00000326002.6:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|293|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.180G>A|ENSP00000417988.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.180G>A|ENSP00000312236.5:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|279|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.180G>A|ENSP00000420705.2:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|199|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.180G>A|ENSP00000338007.3:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|306|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.180G>A|ENSP00000418548.1:p.His60Gln||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.180T>A|p.Gln60Gln|412/7270|180/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258505 brca1:p.C61N A T . . OLD_CLUMPED=chr17:41258504:CA/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|299|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.180G>A|ENSP00000350283.3:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|271|39|13|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.39G>A|ENSP00000418775.1:p.His13Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|271|39|13|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.39G>A|ENSP00000418819.1:p.His13Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|373|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.180G>A|ENSP00000419103.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.180G>A|ENSP00000418960.2:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|341|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.180G>A|ENSP00000419274.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|374|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.180G>A|ENSP00000246907.4:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|374|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.180G>A|ENSP00000417148.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|282|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.180G>A|ENSP00000417554.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|282|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.180G>A|ENSP00000420412.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.180G>A|ENSP00000326002.6:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|293|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.180G>A|ENSP00000417988.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.180G>A|ENSP00000312236.5:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|279|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.180G>A|ENSP00000420705.2:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|199|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.180G>A|ENSP00000338007.3:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|306|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.180G>A|ENSP00000418548.1:p.His60Gln||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.180T>A|p.Gln60Gln|412/7270|180/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258505 brca1:p.C61P A G . . OLD_CLUMPED=chr17:41258504:CA/GG;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|412|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.180G>C|ENST00000352993.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|199|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.180G>C|ENST00000351666.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|306|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.180G>C|ENST00000461221.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|279|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.180G>C|ENST00000491747.2:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|341|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.180G>C|ENST00000470026.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|374|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.180G>C|ENST00000346315.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|374|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.180G>C|ENST00000468300.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|282|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.180G>C|ENST00000478531.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|282|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.180G>C|ENST00000476777.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|412|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.180G>C|ENST00000354071.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|293|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.180G>C|ENST00000461798.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|412|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.180G>C|ENST00000471181.2:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|373|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.180G>C|ENST00000494123.1:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|299|180|60|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.180G>C|ENST00000357654.3:c.180G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|271|39|13|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.39G>C|ENST00000493795.1:c.39G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|271|39|13|H|caT/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.39G>C|ENST00000493919.1:c.39G>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.180T>C|p.Gln60His|412/7270|180/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258505 brca1:p.C61T A T . . OLD_CLUMPED=chr17:41258504:CA/GT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|299|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.180G>A|ENSP00000350283.3:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|271|39|13|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.39G>A|ENSP00000418775.1:p.His13Gln||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|271|39|13|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.39G>A|ENSP00000418819.1:p.His13Gln||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|373|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.180G>A|ENSP00000419103.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.180G>A|ENSP00000418960.2:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|374|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.180G>A|ENSP00000417148.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|341|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.180G>A|ENSP00000419274.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|374|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.180G>A|ENSP00000246907.4:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.180G>A|ENSP00000326002.6:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|293|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.180G>A|ENSP00000417988.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|282|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.180G>A|ENSP00000417554.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|282|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.180G>A|ENSP00000420412.1:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|412|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.180G>A|ENSP00000312236.5:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|279|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.180G>A|ENSP00000420705.2:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|199|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.180G>A|ENSP00000338007.3:p.His60Gln||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|306|180|60|H/Q|caT/caA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.180G>A|ENSP00000418548.1:p.His60Gln||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.180T>A|p.Gln60Gln|412/7270|180/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258505 brca1:p.C61V A C . . OLD_CLUMPED=chr17:41258504:CA/AC;CSQ=C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|412|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|279|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|199|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|306|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|374|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|341|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|374|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|293|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|412|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|282|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|282|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|373|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|412|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|299|180|60|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.His60Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|271|39|13|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418775.1:p.His13Gln||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|271|39|13|H/Q|caT/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850||ENSP00000418819.1:p.His13Gln||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.180T>G|p.Gln60Gln|412/7270|180/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258507 brca1:p.Q60G T C . . OLD_CLUMPED=chr17:41258507:TG/CC;CSQ=C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|371|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.11)|probably_damaging(0.924)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.178C>G|ENSP00000419103.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|410|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.12)|possibly_damaging(0.686)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.178C>G|ENSP00000418960.2:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|297|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.17)|probably_damaging(0.924)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.178C>G|ENSP00000350283.3:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|269|37|13|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.18)|probably_damaging(0.924)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.37C>G|ENSP00000418775.1:p.Lys13Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|269|37|13|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|benign(0.024)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.37C>G|ENSP00000418819.1:p.Lys13Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|410|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.62)|benign(0.092)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.178C>G|ENSP00000312236.5:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|277|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.41)|benign(0.061)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.178C>G|ENSP00000420705.2:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|197|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.77)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.178C>G|ENSP00000338007.3:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|304|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(1)|probably_damaging(0.924)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.178C>G|ENSP00000418548.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|372|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.16)|possibly_damaging(0.634)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.178C>G|ENSP00000246907.4:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|339|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.16)|probably_damaging(0.924)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.178C>G|ENSP00000419274.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|372|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.14)|benign(0.069)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.178C>G|ENSP00000417148.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|280|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.16)|benign(0.021)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.178C>G|ENSP00000417554.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|280|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.07)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.178C>G|ENSP00000420412.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|410|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.18)|benign(0.047)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.178C>G|ENSP00000326002.6:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|291|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(1)|probably_damaging(0.924)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.178C>G|ENSP00000417988.1:p.Lys60Glu||||||||pathogenic||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.178A>G|p.Gln60Glu|410/7270|178/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258507 brca1:p.Q60W T C . . OLD_CLUMPED=chr17:41258507:TG/CA;CSQ=C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|372|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.16)|possibly_damaging(0.634)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.178C>G|ENSP00000246907.4:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|339|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.16)|probably_damaging(0.924)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.178C>G|ENSP00000419274.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|372|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.14)|benign(0.069)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.178C>G|ENSP00000417148.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|280|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.07)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.178C>G|ENSP00000420412.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|280|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.16)|benign(0.021)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.178C>G|ENSP00000417554.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|410|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.18)|benign(0.047)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.178C>G|ENSP00000326002.6:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|291|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(1)|probably_damaging(0.924)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.178C>G|ENSP00000417988.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|410|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.62)|benign(0.092)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.178C>G|ENSP00000312236.5:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|197|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.77)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.178C>G|ENSP00000338007.3:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|304|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(1)|probably_damaging(0.924)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.178C>G|ENSP00000418548.1:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|277|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.41)|benign(0.061)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.178C>G|ENSP00000420705.2:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|297|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.17)|probably_damaging(0.924)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.178C>G|ENSP00000350283.3:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|269|37|13|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|tolerated(0.18)|probably_damaging(0.924)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.37C>G|ENSP00000418775.1:p.Lys13Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|269|37|13|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|benign(0.024)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.37C>G|ENSP00000418819.1:p.Lys13Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|410|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.12)|possibly_damaging(0.686)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.178C>G|ENSP00000418960.2:p.Lys60Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|371|178|60|K/E|Aag/Gag|rs80357471&CM973715||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.11)|probably_damaging(0.924)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.178C>G|ENSP00000419103.1:p.Lys60Glu||||||||pathogenic||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.178A>G|p.Gln60Glu|410/7270|178/5655|60/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258508 brca1:p.Q60G G C . . OLD_CLUMPED=chr17:41258507:TG/CC;CSQ=C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|276|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.177A>G|ENST00000491747.2:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|196|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.177A>G|ENST00000351666.3:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|303|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.177A>G|ENST00000461221.1:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|409|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.177A>G|ENST00000352993.3:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|290|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.177A>G|ENST00000461798.1:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|409|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.177A>G|ENST00000354071.3:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|279|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.177A>G|ENST00000476777.1:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|279|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.177A>G|ENST00000478531.1:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|371|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.177A>G|ENST00000468300.1:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|338|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.177A>G|ENST00000470026.1:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|371|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.177A>G|ENST00000346315.3:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|370|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.177A>G|ENST00000494123.1:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|409|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.177A>G|ENST00000471181.2:c.177A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|268|36|12|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.36A>G|ENST00000493795.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|268|36|12|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.36A>G|ENST00000493919.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|296|177|59|S|tcC/tcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.177A>G|ENST00000357654.3:c.177A>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.177C>G|p.Ser59Ser|409/7270|177/5655|59/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258508 brca1:p.Q60W G A . . OLD_CLUMPED=chr17:41258507:TG/CA;CSQ=A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|338|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.177A>T|ENST00000470026.1:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|371|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.177A>T|ENST00000346315.3:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|371|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.177A>T|ENST00000468300.1:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|279|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.177A>T|ENST00000478531.1:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|279|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.177A>T|ENST00000476777.1:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|409|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.177A>T|ENST00000354071.3:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|290|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.177A>T|ENST00000461798.1:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|409|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.177A>T|ENST00000352993.3:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|303|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.177A>T|ENST00000461221.1:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|196|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.177A>T|ENST00000351666.3:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|276|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.177A>T|ENST00000491747.2:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|296|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.177A>T|ENST00000357654.3:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|268|36|12|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.36A>T|ENST00000493795.1:c.36A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|268|36|12|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.36A>T|ENST00000493919.1:c.36A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|409|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.177A>T|ENST00000471181.2:c.177A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|370|177|59|S|tcC/tcT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.177A>T|ENST00000494123.1:c.177A>T(p.%3D)||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.177C>T|p.Ser59Ser|409/7270|177/5655|59/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258510 brca1:p.S59P A G . . CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|294|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.175T>C|ENSP00000350283.3:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|266|34|12|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|tolerated(0.22)|benign(0.23)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.34T>C|ENSP00000418819.1:p.Ser12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|266|34|12|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.01)|probably_damaging(0.989)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.34T>C|ENSP00000418775.1:p.Ser12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|368|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.02)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.175T>C|ENSP00000419103.1:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|407|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.01)|possibly_damaging(0.837)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.175T>C|ENSP00000418960.2:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|369|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.13)|benign(0.439)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.175T>C|ENSP00000417148.1:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|336|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.02)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.175T>C|ENSP00000419274.1:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|369|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|benign(0.039)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.175T>C|ENSP00000246907.4:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|407|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.01)|possibly_damaging(0.798)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.175T>C|ENSP00000326002.6:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|288|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.11)|probably_damaging(0.989)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.175T>C|ENSP00000417988.1:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|277|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.11)|benign(0.065)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.175T>C|ENSP00000417554.1:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|277|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.12)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.175T>C|ENSP00000420412.1:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|407|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.12)|possibly_damaging(0.504)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.175T>C|ENSP00000312236.5:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|274|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.11)|benign(0.233)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.175T>C|ENSP00000420705.2:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|301|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.11)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.175T>C|ENSP00000418548.1:p.Ser59Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|194|175|59|S/P|Tca/Cca|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.12)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.175T>C|ENSP00000338007.3:p.Ser59Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.175T>C|p.Ser59Pro|407/7270|175/5655|59/1884|| chr17 41258521 brca1:p.K55M T A . . CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|283|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.164A>T|ENSP00000350283.3:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|255|23|8|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.989)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.23A>T|ENSP00000418775.1:p.Lys8Met||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|255|23|8|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|benign(0.403)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.23A>T|ENSP00000418819.1:p.Lys8Met||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|357|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.164A>T|ENSP00000419103.1:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|396|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.939)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.164A>T|ENSP00000418960.2:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|358|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.964)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.164A>T|ENSP00000417148.1:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|325|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.164A>T|ENSP00000419274.1:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|358|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.164A>T|ENSP00000246907.4:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|396|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.995)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.164A>T|ENSP00000326002.6:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|277|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.989)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.164A>T|ENSP00000417988.1:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|266|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.963)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.164A>T|ENSP00000417554.1:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|266|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.164A>T|ENSP00000420412.1:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|396|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.891)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.164A>T|ENSP00000312236.5:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|263|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.919)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.164A>T|ENSP00000420705.2:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|183|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.164A>T|ENSP00000338007.3:p.Lys55Met||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|290|164|55|K/M|aAg/aTg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.164A>T|ENSP00000418548.1:p.Lys55Met||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.164A>T|p.Lys55Met|396/7270|164/5655|55/1884|| chr17 41258522 brca1:p.K55Q T G . . CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|282|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.961)|4/23||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.163A>C|ENSP00000350283.3:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493795|Transcript|missense_variant|254|22|8|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.961)|3/22||Prints_domain:PR00493&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.22A>C|ENSP00000418775.1:p.Lys8Gln||||||||||||||||||,G|ENSG00000012048|ENST00000493919|Transcript|missense_variant|254|22|8|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0.01)|possibly_damaging(0.77)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.22A>C|ENSP00000418819.1:p.Lys8Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|356|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.961)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.163A>C|ENSP00000419103.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|395|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.73)|4/24||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.163A>C|ENSP00000418960.2:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|357|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.178)|4/19||Pfam_domain:PF00097&Prints_domain:PR00493&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.163A>C|ENSP00000246907.4:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|324|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.961)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.163A>C|ENSP00000419274.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|357|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|benign(0.371)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.163A>C|ENSP00000417148.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|265|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|benign(0.253)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.163A>C|ENSP00000417554.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|265|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.163A>C|ENSP00000420412.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|395|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.98)|4/18||Prints_domain:PR00493&Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.163A>C|ENSP00000326002.6:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|276|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.961)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.163A>C|ENSP00000417988.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|395|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.607)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.163A>C|ENSP00000312236.5:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|262|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|benign(0.198)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.163A>C|ENSP00000420705.2:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|289|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.961)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.163A>C|ENSP00000418548.1:p.Lys55Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|182|163|55|K/Q|Aag/Cag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.163A>C|ENSP00000338007.3:p.Lys55Gln||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.163A>C|p.Lys55Gln|395/7270|163/5655|55/1884|| chr17 41258528 brca1:p.N53V T A . . OLD_CLUMPED=chr17:41258528:TT/AC;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|389|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.844)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.157A>T|ENSP00000312236.5:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|176|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.157A>T|ENSP00000338007.3:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|283|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.998)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.157A>T|ENSP00000418548.1:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|256|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.983)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.157A>T|ENSP00000420705.2:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|318|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.157A>T|ENSP00000419274.1:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|351|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.973)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.157A>T|ENSP00000246907.4:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|351|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.99)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.157A>T|ENSP00000417148.1:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|259|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.157A>T|ENSP00000420412.1:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|259|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.925)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.157A>T|ENSP00000417554.1:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|389|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.932)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.157A>T|ENSP00000326002.6:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|270|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.998)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.157A>T|ENSP00000417988.1:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|389|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.983)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.157A>T|ENSP00000418960.2:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|350|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.157A>T|ENSP00000419103.1:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|276|157|53|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.157A>T|ENSP00000350283.3:p.Asn53Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493919|Transcript|missense_variant|248|16|6|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.983)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.16A>T|ENSP00000418819.1:p.Asn6Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000493795|Transcript|missense_variant|248|16|6|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.998)|3/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.16A>T|ENSP00000418775.1:p.Asn6Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.157A>T|p.Asn53Tyr|389/7270|157/5655|53/1884|| chr17 41258529 brca1:p.N53V T C . . OLD_CLUMPED=chr17:41258528:TT/AC;CSQ=C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|349|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.156C>G|ENST00000494123.1:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|388|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.156C>G|ENST00000471181.2:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000493919|Transcript|synonymous_variant|247|15|5|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.15C>G|ENST00000493919.1:c.15C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000493795|Transcript|synonymous_variant|247|15|5|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.15C>G|ENST00000493795.1:c.15C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|275|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.156C>G|ENST00000357654.3:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|255|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.156C>G|ENST00000491747.2:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|175|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.156C>G|ENST00000351666.3:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|282|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.156C>G|ENST00000461221.1:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|388|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.156C>G|ENST00000352993.3:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|388|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.156C>G|ENST00000354071.3:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|269|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.156C>G|ENST00000461798.1:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|258|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.156C>G|ENST00000476777.1:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|258|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.156C>G|ENST00000478531.1:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|350|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.156C>G|ENST00000468300.1:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|350|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.156C>G|ENST00000346315.3:c.156C>G(p.%3D)|||||||||1|||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|317|156|52|L|ctA/ctG|COSM1521476||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.156C>G|ENST00000470026.1:c.156C>G(p.%3D)|||||||||1|||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.156A>G|p.Leu52Leu|388/7270|156/5655|52/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258534 brca1:p.L51D A T . . OLD_CLUMPED=chr17:41258534:AG/TC;CSQ=T|ENSG00000012048|ENST00000493795|Transcript|missense_variant|242|10|4|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0.01)|probably_damaging(0.969)|3/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.10C>A|ENSP00000418775.1:p.Phe4Ile||||||||||||||||||,T|ENSG00000012048|ENST00000493919|Transcript|missense_variant|242|10|4|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.918)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.10C>A|ENSP00000418819.1:p.Phe4Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|270|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.969)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.151C>A|ENSP00000350283.3:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|383|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.01)|possibly_damaging(0.783)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.151C>A|ENSP00000418960.2:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|344|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.01)|probably_damaging(0.969)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.151C>A|ENSP00000419103.1:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|383|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.01)|probably_damaging(0.986)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.151C>A|ENSP00000326002.6:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|264|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.12)|probably_damaging(0.969)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.151C>A|ENSP00000417988.1:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|253|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.151C>A|ENSP00000420412.1:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|253|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.922)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.151C>A|ENSP00000417554.1:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|345|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.983)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.151C>A|ENSP00000417148.1:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|312|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.01)|probably_damaging(0.969)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.151C>A|ENSP00000419274.1:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|345|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.01)|benign(0.248)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.151C>A|ENSP00000246907.4:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|170|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.151C>A|ENSP00000338007.3:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|277|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.12)|probably_damaging(0.969)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.151C>A|ENSP00000418548.1:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|250|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.946)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.151C>A|ENSP00000420705.2:p.Phe51Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|383|151|51|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.567)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.151C>A|ENSP00000312236.5:p.Phe51Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.151T>A|p.Leu51Ile|383/7270|151/5655|51/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258535 brca1:p.L51D G C . . OLD_CLUMPED=chr17:41258534:AG/TC;CSQ=C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|344|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.150A>G|ENSP00000417148.1:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|311|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.150A>G|ENSP00000419274.1:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|344|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.150A>G|ENSP00000246907.4:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|382|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.150A>G|ENSP00000326002.6:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|263|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.150A>G|ENSP00000417988.1:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|252|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.150A>G|ENSP00000417554.1:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|252|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.150A>G|ENSP00000420412.1:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|382|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.150A>G|ENSP00000312236.5:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|249|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.150A>G|ENSP00000420705.2:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|169|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.150A>G|ENSP00000338007.3:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|276|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.150A>G|ENSP00000418548.1:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|269|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.150A>G|ENSP00000350283.3:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000493919|Transcript|missense_variant|241|9|3|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|||3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.9A>G|ENSP00000418819.1:p.Asn3Lys||||||||||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|missense_variant|241|9|3|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|||3/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.9A>G|ENSP00000418775.1:p.Asn3Lys||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|343|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.150A>G|ENSP00000419103.1:p.Asn50Lys||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|382|150|50|N/K|aaC/aaG|rs273897662||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.150A>G|ENSP00000418960.2:p.Asn50Lys||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.150C>G|p.Lys50Lys|382/7270|150/5655|50/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258542 brca1:p.M48R A C . . CSQ=C|ENSG00000012048|ENST00000493919|Transcript|initiator_codon_variant|234|2|1|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000418819||Q9UE29_HUMAN&K4JXS7_HUMAN&C4PFY7_HUMAN&B7ZA85_HUMAN|UPI00019154A6|deleterious(0)|probably_damaging(0.986)|3/17||Superfamily_domains:SSF57850|ENST00000493919.1:c.2T>G|ENSP00000418819.1:p.Met1?||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000493795|Transcript|initiator_codon_variant|234|2|1|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding||CCDS11459.2|ENSP00000418775||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&E9PFZ0_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000013C860|deleterious(0)|probably_damaging(0.977)|3/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000493795.1:c.2T>G|ENSP00000418775.1:p.Met1?||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|262|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.977)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.143T>G|ENSP00000350283.3:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|336|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.977)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.143T>G|ENSP00000419103.1:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|375|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.656)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.143T>G|ENSP00000418960.2:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|256|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.977)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.143T>G|ENSP00000417988.1:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|375|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.962)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.143T>G|ENSP00000326002.6:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|245|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.935)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.143T>G|ENSP00000417554.1:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|245|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.143T>G|ENSP00000420412.1:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|337|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.991)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.143T>G|ENSP00000417148.1:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|304|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.977)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.143T>G|ENSP00000419274.1:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|337|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.143T>G|ENSP00000246907.4:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|242|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.963)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.143T>G|ENSP00000420705.2:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|162|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.143T>G|ENSP00000338007.3:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|269|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.977)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.143T>G|ENSP00000418548.1:p.Met48Arg||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|375|143|48|M/R|aTg/aGg|rs80357637||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.092)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.143T>G|ENSP00000312236.5:p.Met48Arg||||||||pathogenic||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.143T>G|p.Met48Arg|375/7270|143/5655|48/1884|| chr17 41258544 brca1:p.C47W G C . . CSQ=C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|373|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.827)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.141C>G|ENSP00000312236.5:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|240|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.141C>G|ENSP00000420705.2:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|160|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.141C>G|ENSP00000338007.3:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|267|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.998)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.141C>G|ENSP00000418548.1:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|335|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.141C>G|ENSP00000417148.1:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|335|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.962)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.141C>G|ENSP00000246907.4:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|302|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.141C>G|ENSP00000419274.1:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|373|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.995)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.141C>G|ENSP00000326002.6:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|254|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.998)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.141C>G|ENSP00000417988.1:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|243|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.141C>G|ENSP00000417554.1:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|243|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.141C>G|ENSP00000420412.1:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|334|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.141C>G|ENSP00000419103.1:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|373|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.911)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.141C>G|ENSP00000418960.2:p.Cys47Trp|||||||||1&1|||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|260|141|47|C/W|tgC/tgG|COSM1383530&COSM73856||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.141C>G|ENSP00000350283.3:p.Cys47Trp|||||||||1&1|||||||||;ExAC_AC_AMR=0;ExAC_AN_AFR=8026;ExAC_AN_AMR=10830;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AFR=0;ExAC_AN_OTH=672;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AN_FIN=6434;ExAC_AC_Hom=0;ExAC=17:41258544-41258544;ExAC_AC_Het=1;ExAC_AN_SAS=15848;ExAC_AN_Adj=100174;ExAC_AF=9.420e-06,9.420e-06;ExAC_AN_EAS=7670;ExAC_AN=106162;ExAC_AC_Adj=1;ExAC_AC_EAS=0;ExAC_AC_SAS=1;ExAC_AN_NFE=50694;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.141C>G|p.Cys47Trp|373/7270|141/5655|47/1884|| chr17 41258545 brca1:p.C47F C A . . CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|259|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.140G>T|ENSP00000350283.3:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|333|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.140G>T|ENSP00000419103.1:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|372|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.039)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.140G>T|ENSP00000418960.2:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|242|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.997)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.140G>T|ENSP00000417554.1:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|242|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.140G>T|ENSP00000420412.1:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|372|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.140G>T|ENSP00000326002.6:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|253|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.989)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.140G>T|ENSP00000417988.1:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|334|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.065)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.140G>T|ENSP00000246907.4:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|301|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.140G>T|ENSP00000419274.1:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|334|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.140G>T|ENSP00000417148.1:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|239|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.994)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.140G>T|ENSP00000420705.2:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|159|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.140G>T|ENSP00000338007.3:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|266|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.140G>T|ENSP00000418548.1:p.Cys47Phe||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|372|140|47|C/F|tGc/tTc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.506)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.140G>T|ENSP00000312236.5:p.Cys47Phe||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.140G>T|p.Cys47Phe|372/7270|140/5655|47/1884|| chr17 41258545 brca1:p.C47Y C T . . CSQ=T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|333|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.140G>A|ENSP00000419103.1:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|372|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.657)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.140G>A|ENSP00000418960.2:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|259|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.140G>A|ENSP00000350283.3:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|372|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.140G>A|ENSP00000312236.5:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|239|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.140G>A|ENSP00000420705.2:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|266|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.989)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.140G>A|ENSP00000418548.1:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|159|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.140G>A|ENSP00000338007.3:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|334|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.759)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.140G>A|ENSP00000246907.4:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|301|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.989)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.140G>A|ENSP00000419274.1:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|334|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.140G>A|ENSP00000417148.1:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|242|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.140G>A|ENSP00000417554.1:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|242|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.140G>A|ENSP00000420412.1:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|253|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.989)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.140G>A|ENSP00000417988.1:p.Cys47Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|372|140|47|C/Y|tGc/tAc|rs80357150&CM032549&CM022326||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.140G>A|ENSP00000326002.6:p.Cys47Tyr||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.140G>A|p.Cys47Tyr|372/7270|140/5655|47/1884|| chr17 41258546 brca1:p.C47A C G . . OLD_CLUMPED=chr17:41258546:CA/GC;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.139T>C|ENSP00000350283.3:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.139T>C|ENSP00000419103.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.788)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.139T>C|ENSP00000418960.2:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.139T>C|ENSP00000326002.6:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.139T>C|ENSP00000417988.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.996)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.139T>C|ENSP00000417554.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.139T>C|ENSP00000420412.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.139T>C|ENSP00000417148.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.105)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.139T>C|ENSP00000246907.4:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.139T>C|ENSP00000419274.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.139T>C|ENSP00000420705.2:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.139T>C|ENSP00000338007.3:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.139T>C|ENSP00000418548.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.139T>C|ENSP00000312236.5:p.Gly47Arg|||||||||0&1|||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139G>C|p.Cys47Arg|371/7270|139/5655|47/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258546 brca1:p.C47D C T . . OLD_CLUMPED=chr17:41258546:CA/TC;CSQ=T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.05)|benign(0.39)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.139T>A|ENSP00000419103.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.04)|benign(0.046)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.139T>A|ENSP00000418960.2:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.05)|benign(0.39)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.139T>A|ENSP00000350283.3:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.291)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.139T>A|ENSP00000312236.5:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|possibly_damaging(0.821)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.139T>A|ENSP00000420705.2:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.139T>A|ENSP00000338007.3:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.04)|benign(0.39)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.139T>A|ENSP00000418548.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.954)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.139T>A|ENSP00000417148.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.05)|benign(0.39)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.139T>A|ENSP00000419274.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.05)|benign(0.178)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.139T>A|ENSP00000246907.4:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.04)|probably_damaging(0.985)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.139T>A|ENSP00000326002.6:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.04)|benign(0.39)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.139T>A|ENSP00000417988.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.05)|possibly_damaging(0.717)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.139T>A|ENSP00000417554.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.139T>A|ENSP00000420412.1:p.Gly47Ser|||||||||0&1|||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139G>A|p.Cys47Ser|371/7270|139/5655|47/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258546 brca1:p.C47G A C . . CSQ=C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.986)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.139T>G|ENSP00000420705.2:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.139T>G|ENSP00000338007.3:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.92)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.139T>G|ENSP00000418548.1:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.402)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.139T>G|ENSP00000312236.5:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.92)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.139T>G|ENSP00000417988.1:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.139T>G|ENSP00000326002.6:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.989)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.139T>G|ENSP00000417554.1:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.139T>G|ENSP00000420412.1:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.995)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.139T>G|ENSP00000417148.1:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.577)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.139T>G|ENSP00000246907.4:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.92)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.139T>G|ENSP00000419274.1:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.92)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.139T>G|ENSP00000419103.1:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.436)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.139T>G|ENSP00000418960.2:p.Cys47Gly|||||||||0&1|||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|C/G|Tgc/Ggc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.92)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.139T>G|ENSP00000350283.3:p.Cys47Gly|||||||||0&1|||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139T>G|p.Cys47Gly|371/7270|139/5655|47/1884|| chr17 41258546 brca1:p.C47I C A . . OLD_CLUMPED=chr17:41258546:CA/AT;CSQ=A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly47Cys|||||||||0&1|||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139G>T|p.Cys47Cys|371/7270|139/5655|47/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258546 brca1:p.C47N C T . . OLD_CLUMPED=chr17:41258546:CA/TT;CSQ=T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.139T>A|ENSP00000338007.3:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.04)|benign(0.39)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.139T>A|ENSP00000418548.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|possibly_damaging(0.821)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.139T>A|ENSP00000420705.2:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.291)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.139T>A|ENSP00000312236.5:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.04)|probably_damaging(0.985)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.139T>A|ENSP00000326002.6:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.04)|benign(0.39)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.139T>A|ENSP00000417988.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.139T>A|ENSP00000420412.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.05)|possibly_damaging(0.717)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.139T>A|ENSP00000417554.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.954)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.139T>A|ENSP00000417148.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.05)|benign(0.39)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.139T>A|ENSP00000419274.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.05)|benign(0.178)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.139T>A|ENSP00000246907.4:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.04)|benign(0.046)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.139T>A|ENSP00000418960.2:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.05)|benign(0.39)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.139T>A|ENSP00000419103.1:p.Gly47Ser|||||||||0&1|||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|G/S|Ggc/Agc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.05)|benign(0.39)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.139T>A|ENSP00000350283.3:p.Gly47Ser|||||||||0&1|||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139G>A|p.Cys47Ser|371/7270|139/5655|47/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258546 brca1:p.C47P C G . . OLD_CLUMPED=chr17:41258546:CA/GG;CSQ=G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.139T>C|ENSP00000419103.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.788)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.139T>C|ENSP00000418960.2:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.139T>C|ENSP00000350283.3:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.139T>C|ENSP00000312236.5:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.139T>C|ENSP00000420705.2:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.139T>C|ENSP00000338007.3:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.139T>C|ENSP00000418548.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.139T>C|ENSP00000417148.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.105)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.139T>C|ENSP00000246907.4:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.139T>C|ENSP00000419274.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.139T>C|ENSP00000417988.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.139T>C|ENSP00000326002.6:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.996)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.139T>C|ENSP00000417554.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.139T>C|ENSP00000420412.1:p.Gly47Arg|||||||||0&1|||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139G>C|p.Cys47Arg|371/7270|139/5655|47/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258546 brca1:p.C47R A G . . CSQ=G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.139T>C|ENSP00000417148.1:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.139T>C|ENSP00000419274.1:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.105)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.139T>C|ENSP00000246907.4:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.139T>C|ENSP00000326002.6:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.139T>C|ENSP00000417988.1:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.139T>C|ENSP00000420412.1:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.996)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.139T>C|ENSP00000417554.1:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.139T>C|ENSP00000312236.5:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.139T>C|ENSP00000338007.3:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.139T>C|ENSP00000418548.1:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.139T>C|ENSP00000420705.2:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.139T>C|ENSP00000350283.3:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.788)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.139T>C|ENSP00000418960.2:p.Cys47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|C/R|Tgc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.139T>C|ENSP00000419103.1:p.Cys47Arg|||||||||0&1|||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139T>C|p.Cys47Arg|371/7270|139/5655|47/1884|| chr17 41258546 brca1:p.C47T C G . . OLD_CLUMPED=chr17:41258546:CA/GT;CSQ=G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.139T>C|ENSP00000419103.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.788)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.139T>C|ENSP00000418960.2:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.139T>C|ENSP00000350283.3:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.588)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.139T>C|ENSP00000312236.5:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.139T>C|ENSP00000420705.2:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.139T>C|ENSP00000418548.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.139T>C|ENSP00000338007.3:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.139T>C|ENSP00000417148.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.105)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.139T>C|ENSP00000246907.4:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.978)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.139T>C|ENSP00000419274.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.139T>C|ENSP00000326002.6:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.978)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.139T>C|ENSP00000417988.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.996)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.139T>C|ENSP00000417554.1:p.Gly47Arg|||||||||0&1|||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|G/R|Ggc/Cgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.139T>C|ENSP00000420412.1:p.Gly47Arg|||||||||0&1|||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139G>C|p.Cys47Arg|371/7270|139/5655|47/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258546 brca1:p.C47V C A . . OLD_CLUMPED=chr17:41258546:CA/AC;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|371|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|238|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|158|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|265|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|300|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|333|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|333|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|241|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|241|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|252|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|371|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|332|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|371|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly47Cys|||||||||0&1|||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|258|139|47|G/C|Ggc/Tgc|rs80357370&COSM1383531||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly47Cys|||||||||0&1|||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.139G>T|p.Cys47Cys|371/7270|139/5655|47/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41258547 brca1:p.C47A A C . . OLD_CLUMPED=chr17:41258546:CA/GC;CSQ=C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|332|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.938)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.138T>G|ENSP00000417148.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|332|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.703)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.138T>G|ENSP00000246907.4:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|299|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.138T>G|ENSP00000419274.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.138T>G|ENSP00000326002.6:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|251|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.138T>G|ENSP00000417988.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|240|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.138T>G|ENSP00000420412.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|240|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.916)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.138T>G|ENSP00000417554.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.294)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.138T>G|ENSP00000312236.5:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|157|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.138T>G|ENSP00000338007.3:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|264|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.138T>G|ENSP00000418548.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|237|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.138T>G|ENSP00000420705.2:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|257|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.138T>G|ENSP00000350283.3:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.861)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.138T>G|ENSP00000418960.2:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|331|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.138T>G|ENSP00000419103.1:p.Phe46Leu||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.138T>G|p.Phe46Leu|370/7270|138/5655|46/1884|| chr17 41258547 brca1:p.C47D A C . . OLD_CLUMPED=chr17:41258546:CA/TC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|257|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.138T>G|ENSP00000350283.3:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|331|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.138T>G|ENSP00000419103.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.861)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.138T>G|ENSP00000418960.2:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|332|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.938)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.138T>G|ENSP00000417148.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|299|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.138T>G|ENSP00000419274.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|332|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.703)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.138T>G|ENSP00000246907.4:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.138T>G|ENSP00000326002.6:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|251|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.138T>G|ENSP00000417988.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|240|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.916)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.138T>G|ENSP00000417554.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|240|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.138T>G|ENSP00000420412.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.294)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.138T>G|ENSP00000312236.5:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|237|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.138T>G|ENSP00000420705.2:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|157|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.138T>G|ENSP00000338007.3:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|264|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.138T>G|ENSP00000418548.1:p.Phe46Leu||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.138T>G|p.Phe46Leu|370/7270|138/5655|46/1884|| chr17 41258547 brca1:p.C47I A T . . OLD_CLUMPED=chr17:41258546:CA/AT;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.294)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.138T>A|ENSP00000312236.5:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|157|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.138T>A|ENSP00000338007.3:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|264|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.138T>A|ENSP00000418548.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|237|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.138T>A|ENSP00000420705.2:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|332|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.703)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.138T>A|ENSP00000246907.4:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|299|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.138T>A|ENSP00000419274.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|332|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.938)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.138T>A|ENSP00000417148.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|240|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.138T>A|ENSP00000420412.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|240|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.916)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.138T>A|ENSP00000417554.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|251|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.138T>A|ENSP00000417988.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.138T>A|ENSP00000326002.6:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.861)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.138T>A|ENSP00000418960.2:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|331|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.138T>A|ENSP00000419103.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|257|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.138T>A|ENSP00000350283.3:p.Phe46Leu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.138T>A|p.Phe46Leu|370/7270|138/5655|46/1884|| chr17 41258547 brca1:p.C47N A T . . OLD_CLUMPED=chr17:41258546:CA/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|257|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.138T>A|ENSP00000350283.3:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.861)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.138T>A|ENSP00000418960.2:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|331|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.138T>A|ENSP00000419103.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|332|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.938)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.138T>A|ENSP00000417148.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|332|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.703)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.138T>A|ENSP00000246907.4:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|299|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.138T>A|ENSP00000419274.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.138T>A|ENSP00000326002.6:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|251|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.138T>A|ENSP00000417988.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|240|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.138T>A|ENSP00000420412.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|240|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.916)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.138T>A|ENSP00000417554.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.294)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.138T>A|ENSP00000312236.5:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|157|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.138T>A|ENSP00000338007.3:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|264|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.138T>A|ENSP00000418548.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|237|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.138T>A|ENSP00000420705.2:p.Phe46Leu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.138T>A|p.Phe46Leu|370/7270|138/5655|46/1884|| chr17 41258547 brca1:p.C47P A G . . OLD_CLUMPED=chr17:41258546:CA/GG;CSQ=G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|370|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.138T>C|ENST00000354071.3:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|251|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.138T>C|ENST00000461798.1:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|240|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.138T>C|ENST00000476777.1:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|240|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.138T>C|ENST00000478531.1:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|332|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.138T>C|ENST00000468300.1:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|332|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.138T>C|ENST00000346315.3:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|299|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.138T>C|ENST00000470026.1:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|237|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.138T>C|ENST00000491747.2:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|264|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.138T>C|ENST00000461221.1:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|157|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.138T>C|ENST00000351666.3:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|370|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.138T>C|ENST00000352993.3:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|257|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.138T>C|ENST00000357654.3:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|331|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.138T>C|ENST00000494123.1:c.138T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|370|138|46|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.138T>C|ENST00000471181.2:c.138T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.138T>C|p.Phe46Phe|370/7270|138/5655|46/1884|| chr17 41258547 brca1:p.C47T A T . . OLD_CLUMPED=chr17:41258546:CA/GT;CSQ=T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.138T>A|ENSP00000326002.6:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|251|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.138T>A|ENSP00000417988.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|240|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.916)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.138T>A|ENSP00000417554.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|240|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.138T>A|ENSP00000420412.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|332|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.938)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.138T>A|ENSP00000417148.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|299|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.138T>A|ENSP00000419274.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|332|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.703)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.138T>A|ENSP00000246907.4:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|237|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.138T>A|ENSP00000420705.2:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|157|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.138T>A|ENSP00000338007.3:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|264|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.138T>A|ENSP00000418548.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.294)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.138T>A|ENSP00000312236.5:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|257|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.138T>A|ENSP00000350283.3:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|331|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.138T>A|ENSP00000419103.1:p.Phe46Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|370|138|46|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.861)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.138T>A|ENSP00000418960.2:p.Phe46Leu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.138T>A|p.Phe46Leu|370/7270|138/5655|46/1884|| chr17 41258547 brca1:p.C47V A C . . OLD_CLUMPED=chr17:41258546:CA/AC;CSQ=C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|331|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.138T>G|ENSP00000419103.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.861)|4/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.138T>G|ENSP00000418960.2:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|257|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.138T>G|ENSP00000350283.3:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|benign(0.294)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.138T>G|ENSP00000312236.5:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|237|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.987)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.138T>G|ENSP00000420705.2:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|157|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|3/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.138T>G|ENSP00000338007.3:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|264|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.138T>G|ENSP00000418548.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|299|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|4/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.138T>G|ENSP00000419274.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|332|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.703)|4/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.138T>G|ENSP00000246907.4:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|332|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.938)|4/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.138T>G|ENSP00000417148.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|240|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.916)|4/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.138T>G|ENSP00000417554.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|240|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||4/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.138T>G|ENSP00000420412.1:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|370|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|4/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.138T>G|ENSP00000326002.6:p.Phe46Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|251|138|46|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.21)|probably_damaging(0.999)|4/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.138T>G|ENSP00000417988.1:p.Phe46Leu||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|4/24|c.138T>G|p.Phe46Leu|370/7270|138/5655|46/1884|| chr17 41267745 brca1:p.C44W G C . . CSQ=C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|181|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.892)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.132C>G|ENSP00000420253.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant&splice_region_variant|291|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.132C>G|ENSP00000420781.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant&splice_region_variant|325|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.132C>G|ENSP00000419103.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant&splice_region_variant|364|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.912)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.132C>G|ENSP00000418960.2:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant&splice_region_variant|251|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.132C>G|ENSP00000350283.3:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant&splice_region_variant|364|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.994)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.132C>G|ENSP00000312236.5:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant&splice_region_variant|231|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.997)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.132C>G|ENSP00000420705.2:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|258|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.132C>G|ENSP00000418548.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant&splice_region_variant|151|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.132C>G|ENSP00000338007.3:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant&splice_region_variant|245|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.132C>G|ENSP00000419988.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant&splice_region_variant|293|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.132C>G|ENSP00000419274.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant&splice_region_variant|326|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.979)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.132C>G|ENSP00000246907.4:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant&splice_region_variant|326|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.132C>G|ENSP00000417148.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant&splice_region_variant|234|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.132C>G|ENSP00000417554.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant&splice_region_variant|234|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.132C>G|ENSP00000420412.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&splice_region_variant&NMD_transcript_variant|245|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.132C>G|ENSP00000417988.1:p.Cys44Trp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant&splice_region_variant|364|132|44|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.132C>G|ENSP00000326002.6:p.Cys44Trp||||||||||||||||||;ANN=C|missense_variant&splice_region_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.132C>G|p.Cys44Trp|364/7270|132/5655|44/1884|| chr17 41267746 brca1:p.C44F C A . . CSQ=A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|180|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.639)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.131G>T|ENSP00000420253.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|290|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.131G>T|ENSP00000420781.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|324|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.945)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.131G>T|ENSP00000419103.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|363|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.091)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.131G>T|ENSP00000418960.2:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|250|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.945)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.131G>T|ENSP00000350283.3:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|363|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.131G>T|ENSP00000312236.5:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|230|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.992)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.131G>T|ENSP00000420705.2:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|150|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.131G>T|ENSP00000338007.3:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|257|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.945)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.131G>T|ENSP00000418548.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|244|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.131G>T|ENSP00000419988.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|325|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.115)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.131G>T|ENSP00000246907.4:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|292|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.945)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.131G>T|ENSP00000419274.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|325|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.994)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.131G>T|ENSP00000417148.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|233|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.995)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.131G>T|ENSP00000417554.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|233|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.131G>T|ENSP00000420412.1:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|363|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.01)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.131G>T|ENSP00000326002.6:p.Cys44Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|244|131|44|C/F|tGc/tTc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.945)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.131G>T|ENSP00000417988.1:p.Cys44Phe||||||||pathogenic||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.131G>T|p.Cys44Phe|363/7270|131/5655|44/1884|| chr17 41267746 brca1:p.C44Y C T . . CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|363|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.03)|benign(0.091)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.131G>A|ENSP00000418960.2:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|290|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.131G>A|ENSP00000420781.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|324|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.02)|benign(0.376)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.131G>A|ENSP00000419103.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|180|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.131G>A|ENSP00000420253.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|250|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.03)|benign(0.376)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.131G>A|ENSP00000350283.3:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|150|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.131G>A|ENSP00000338007.3:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|257|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|benign(0.376)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.131G>A|ENSP00000418548.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|230|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.924)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.131G>A|ENSP00000420705.2:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|363|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.131G>A|ENSP00000312236.5:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|233|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.131G>A|ENSP00000420412.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|233|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.03)|possibly_damaging(0.892)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.131G>A|ENSP00000417554.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|363|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.03)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.131G>A|ENSP00000326002.6:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|244|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|benign(0.376)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.131G>A|ENSP00000417988.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|292|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.02)|benign(0.376)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.131G>A|ENSP00000419274.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|325|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|possibly_damaging(0.854)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.131G>A|ENSP00000246907.4:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|244|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.131G>A|ENSP00000419988.1:p.Cys44Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|325|131|44|C/Y|tGc/tAc|rs80357446&CM041685&CM101977||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.954)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.131G>A|ENSP00000417148.1:p.Cys44Tyr||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.131G>A|p.Cys44Tyr|363/7270|131/5655|44/1884|| chr17 41267747 brca1:p.C44A C G . . OLD_CLUMPED=chr17:41267747:CA/GC;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|249|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.130T>C|ENSP00000350283.3:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|179|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.130T>C|ENSP00000420253.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|289|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.130T>C|ENSP00000420781.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|323|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.130T>C|ENSP00000419103.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.912)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.130T>C|ENSP00000418960.2:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|324|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.130T>C|ENSP00000417148.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|243|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.130T>C|ENSP00000419988.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|291|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.130T>C|ENSP00000419274.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|324|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.130T>C|ENSP00000246907.4:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.130T>C|ENSP00000326002.6:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|243|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.130T>C|ENSP00000417988.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|232|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.130T>C|ENSP00000417554.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|232|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.130T>C|ENSP00000420412.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.130T>C|ENSP00000312236.5:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|229|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.997)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.130T>C|ENSP00000420705.2:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|149|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.130T>C|ENSP00000338007.3:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|256|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.130T>C|ENSP00000418548.1:p.Gly44Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.130G>C|p.Cys44Arg|362/7270|130/5655|44/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267747 brca1:p.C44I C A . . OLD_CLUMPED=chr17:41267747:CA/AT;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|362|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|229|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|149|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|256|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|324|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|243|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|324|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|291|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|362|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|243|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|232|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|232|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|179|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|289|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|323|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|362|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|249|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly44Cys||||||||pathogenic||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.130G>T|p.Cys44Cys|362/7270|130/5655|44/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267747 brca1:p.C44N C T . . OLD_CLUMPED=chr17:41267747:CA/TT;CSQ=T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|243|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.130T>A|ENSP00000419988.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|291|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.968)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.130T>A|ENSP00000419274.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|324|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.872)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.130T>A|ENSP00000246907.4:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|324|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.997)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.130T>A|ENSP00000417148.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|232|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.994)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.130T>A|ENSP00000417554.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|232|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.130T>A|ENSP00000420412.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|362|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.130T>A|ENSP00000326002.6:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|243|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.968)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.130T>A|ENSP00000417988.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|362|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.130T>A|ENSP00000312236.5:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|229|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.994)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.130T>A|ENSP00000420705.2:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|149|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.130T>A|ENSP00000338007.3:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|256|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.968)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.130T>A|ENSP00000418548.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|249|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.968)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.130T>A|ENSP00000350283.3:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|179|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.130T>A|ENSP00000420253.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|289|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.130T>A|ENSP00000420781.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|323|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.968)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.130T>A|ENSP00000419103.1:p.Gly44Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|362|130|44|G/S|Ggc/Agc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.836)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.130T>A|ENSP00000418960.2:p.Gly44Ser||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.130G>A|p.Cys44Ser|362/7270|130/5655|44/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267747 brca1:p.C44P C G . . OLD_CLUMPED=chr17:41267747:CA/GG;CSQ=G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.130T>C|ENSP00000326002.6:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|243|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.130T>C|ENSP00000417988.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|232|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.130T>C|ENSP00000417554.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|232|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.130T>C|ENSP00000420412.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|324|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.130T>C|ENSP00000417148.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|243|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.130T>C|ENSP00000419988.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|291|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.130T>C|ENSP00000419274.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|324|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.130T>C|ENSP00000246907.4:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|229|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.997)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.130T>C|ENSP00000420705.2:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|149|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.130T>C|ENSP00000338007.3:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|256|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.130T>C|ENSP00000418548.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.130T>C|ENSP00000312236.5:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|249|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.130T>C|ENSP00000350283.3:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|323|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.130T>C|ENSP00000419103.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|289|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.130T>C|ENSP00000420781.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.912)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.130T>C|ENSP00000418960.2:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|179|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.130T>C|ENSP00000420253.1:p.Gly44Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.130G>C|p.Cys44Arg|362/7270|130/5655|44/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267747 brca1:p.C44R A G . . CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|249|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.130T>C|ENSP00000350283.3:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|179|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.130T>C|ENSP00000420253.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|289|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.130T>C|ENSP00000420781.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|323|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.130T>C|ENSP00000419103.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|362|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.912)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.130T>C|ENSP00000418960.2:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|243|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.130T>C|ENSP00000419988.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|291|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.130T>C|ENSP00000419274.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|324|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.130T>C|ENSP00000246907.4:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|324|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.130T>C|ENSP00000417148.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|232|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.130T>C|ENSP00000417554.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|232|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.130T>C|ENSP00000420412.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|362|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.130T>C|ENSP00000326002.6:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|243|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.130T>C|ENSP00000417988.1:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|362|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.130T>C|ENSP00000312236.5:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|229|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.997)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.130T>C|ENSP00000420705.2:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|149|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.130T>C|ENSP00000338007.3:p.Cys44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|256|130|44|C/R|Tgc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.130T>C|ENSP00000418548.1:p.Cys44Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.130T>C|p.Cys44Arg|362/7270|130/5655|44/1884|| chr17 41267747 brca1:p.C44T C G . . OLD_CLUMPED=chr17:41267747:CA/GT;CSQ=G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|179|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.130T>C|ENSP00000420253.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|289|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.130T>C|ENSP00000420781.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|323|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.130T>C|ENSP00000419103.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.912)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.130T>C|ENSP00000418960.2:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|249|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.130T>C|ENSP00000350283.3:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.130T>C|ENSP00000312236.5:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|229|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.997)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.130T>C|ENSP00000420705.2:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|149|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.130T>C|ENSP00000338007.3:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|256|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.130T>C|ENSP00000418548.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|243|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.130T>C|ENSP00000419988.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|291|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.984)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.130T>C|ENSP00000419274.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|324|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.892)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.130T>C|ENSP00000246907.4:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|324|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.130T>C|ENSP00000417148.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|232|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.130T>C|ENSP00000417554.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|232|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.130T>C|ENSP00000420412.1:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|362|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.130T>C|ENSP00000326002.6:p.Gly44Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|243|130|44|G/R|Ggc/Cgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.984)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.130T>C|ENSP00000417988.1:p.Gly44Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.130G>C|p.Cys44Arg|362/7270|130/5655|44/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267747 brca1:p.C44V C A . . OLD_CLUMPED=chr17:41267747:CA/AC;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|149|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|256|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|229|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|362|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|232|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|232|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|362|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|243|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|291|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|324|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|243|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|324|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|362|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|289|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|323|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|179|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Gly44Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|249|130|44|G/C|Ggc/Tgc|rs80357327&rs80357951&CM087364&CM985510||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly44Cys||||||||pathogenic||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.130G>T|p.Cys44Cys|362/7270|130/5655|44/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267748 brca1:p.C44A A C . . OLD_CLUMPED=chr17:41267747:CA/GC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|248|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.129T>G|ENSP00000350283.3:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|178|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.418)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.129T>G|ENSP00000420253.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|361|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.341)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.129T>G|ENSP00000418960.2:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|288|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.129T>G|ENSP00000420781.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|322|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.129T>G|ENSP00000419103.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|323|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.129T>G|ENSP00000246907.4:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|290|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.129T>G|ENSP00000419274.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|242|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.95)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.129T>G|ENSP00000419988.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|323|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.97)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.129T>G|ENSP00000417148.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|231|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.129T>G|ENSP00000420412.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|231|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.931)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.129T>G|ENSP00000417554.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|361|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.953)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.129T>G|ENSP00000326002.6:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|242|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.129T>G|ENSP00000417988.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|361|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.876)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.129T>G|ENSP00000312236.5:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|148|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.129T>G|ENSP00000338007.3:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|255|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.129T>G|ENSP00000418548.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|228|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.949)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.129T>G|ENSP00000420705.2:p.Phe43Leu||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.129T>G|p.Phe43Leu|361/7270|129/5655|43/1884|| chr17 41267748 brca1:p.C44I A T . . OLD_CLUMPED=chr17:41267747:CA/AT;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.876)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.129T>A|ENSP00000312236.5:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|148|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.129T>A|ENSP00000338007.3:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|255|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.129T>A|ENSP00000418548.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|228|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.949)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.129T>A|ENSP00000420705.2:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|323|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.97)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.129T>A|ENSP00000417148.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|290|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.129T>A|ENSP00000419274.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|323|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.129T>A|ENSP00000246907.4:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|242|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.95)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.129T>A|ENSP00000419988.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|242|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.129T>A|ENSP00000417988.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.953)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.129T>A|ENSP00000326002.6:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|231|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.129T>A|ENSP00000420412.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|231|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.931)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.129T>A|ENSP00000417554.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|178|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.418)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.129T>A|ENSP00000420253.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.341)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.129T>A|ENSP00000418960.2:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|322|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.129T>A|ENSP00000419103.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|288|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.129T>A|ENSP00000420781.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|248|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.129T>A|ENSP00000350283.3:p.Phe43Leu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.129T>A|p.Phe43Leu|361/7270|129/5655|43/1884|| chr17 41267748 brca1:p.C44N A T . . OLD_CLUMPED=chr17:41267747:CA/TT;CSQ=T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|231|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.931)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.129T>A|ENSP00000417554.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|231|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.129T>A|ENSP00000420412.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|242|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.129T>A|ENSP00000417988.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.953)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.129T>A|ENSP00000326002.6:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|242|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.95)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.129T>A|ENSP00000419988.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|290|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.129T>A|ENSP00000419274.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|323|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.129T>A|ENSP00000246907.4:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|323|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.97)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.129T>A|ENSP00000417148.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|228|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.949)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.129T>A|ENSP00000420705.2:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|148|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.129T>A|ENSP00000338007.3:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|255|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.129T>A|ENSP00000418548.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.876)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.129T>A|ENSP00000312236.5:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|248|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.129T>A|ENSP00000350283.3:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|322|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.129T>A|ENSP00000419103.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|288|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.129T>A|ENSP00000420781.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.341)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.129T>A|ENSP00000418960.2:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|178|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.418)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.129T>A|ENSP00000420253.1:p.Phe43Leu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.129T>A|p.Phe43Leu|361/7270|129/5655|43/1884|| chr17 41267748 brca1:p.C44P A G . . OLD_CLUMPED=chr17:41267747:CA/GG;CSQ=G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|228|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.129T>C|ENST00000491747.2:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|148|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.129T>C|ENST00000351666.3:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|255|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.129T>C|ENST00000461221.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|361|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.129T>C|ENST00000352993.3:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|242|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.129T>C|ENST00000461798.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|361|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.129T>C|ENST00000354071.3:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|231|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.129T>C|ENST00000476777.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|231|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.129T>C|ENST00000478531.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|323|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.129T>C|ENST00000468300.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|242|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.129T>C|ENST00000477152.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|323|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.129T>C|ENST00000346315.3:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|290|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.129T>C|ENST00000470026.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|288|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.129T>C|ENST00000489037.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|322|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.129T>C|ENST00000494123.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|361|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.129T>C|ENST00000471181.2:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|178|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.129T>C|ENST00000492859.1:c.129T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|248|129|43|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.129T>C|ENST00000357654.3:c.129T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.129T>C|p.Phe43Phe|361/7270|129/5655|43/1884|| chr17 41267748 brca1:p.C44T A T . . OLD_CLUMPED=chr17:41267747:CA/GT;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|228|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.949)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.129T>A|ENSP00000420705.2:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|148|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.129T>A|ENSP00000338007.3:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|255|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.129T>A|ENSP00000418548.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.876)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.129T>A|ENSP00000312236.5:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.953)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.129T>A|ENSP00000326002.6:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|242|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.129T>A|ENSP00000417988.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|231|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.931)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.129T>A|ENSP00000417554.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|231|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.129T>A|ENSP00000420412.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|323|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.97)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.129T>A|ENSP00000417148.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|242|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.95)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.129T>A|ENSP00000419988.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|290|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.129T>A|ENSP00000419274.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|323|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.129T>A|ENSP00000246907.4:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|288|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.129T>A|ENSP00000420781.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|322|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.129T>A|ENSP00000419103.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|361|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.341)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.129T>A|ENSP00000418960.2:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|178|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.418)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.129T>A|ENSP00000420253.1:p.Phe43Leu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|248|129|43|F/L|ttT/ttA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.129T>A|ENSP00000350283.3:p.Phe43Leu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.129T>A|p.Phe43Leu|361/7270|129/5655|43/1884|| chr17 41267748 brca1:p.C44V A C . . OLD_CLUMPED=chr17:41267747:CA/AC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|248|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.129T>G|ENSP00000350283.3:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|178|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.418)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.129T>G|ENSP00000420253.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|288|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.129T>G|ENSP00000420781.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|322|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.129T>G|ENSP00000419103.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|361|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.341)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.129T>G|ENSP00000418960.2:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|242|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.95)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.129T>G|ENSP00000419988.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|323|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.129T>G|ENSP00000246907.4:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|290|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.129T>G|ENSP00000419274.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|323|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.97)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.129T>G|ENSP00000417148.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|231|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.931)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.129T>G|ENSP00000417554.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|231|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.129T>G|ENSP00000420412.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|361|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.953)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.129T>G|ENSP00000326002.6:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|242|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.129T>G|ENSP00000417988.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|361|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.876)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.129T>G|ENSP00000312236.5:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|228|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.949)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.129T>G|ENSP00000420705.2:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|255|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.129T>G|ENSP00000418548.1:p.Phe43Leu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|148|129|43|F/L|ttT/ttG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.129T>G|ENSP00000338007.3:p.Phe43Leu||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.129T>G|p.Phe43Leu|361/7270|129/5655|43/1884|| chr17 41267749 brca1:p.F43C A C . . CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|247|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.992)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.128T>G|ENSP00000350283.3:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|360|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.961)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.128T>G|ENSP00000418960.2:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|287|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.128T>G|ENSP00000420781.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|321|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.992)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.128T>G|ENSP00000419103.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|177|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|probably_damaging(0.926)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.128T>G|ENSP00000420253.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|230|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.128T>G|ENSP00000420412.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|230|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.128T>G|ENSP00000417554.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|360|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.128T>G|ENSP00000326002.6:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|241|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.992)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.128T>G|ENSP00000417988.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|322|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.349)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.128T>G|ENSP00000246907.4:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|289|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.992)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.128T>G|ENSP00000419274.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|241|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.128T>G|ENSP00000419988.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|322|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.128T>G|ENSP00000417148.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|254|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.992)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.128T>G|ENSP00000418548.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|147|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.128T>G|ENSP00000338007.3:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|227|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.128T>G|ENSP00000420705.2:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|360|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.988)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.128T>G|ENSP00000312236.5:p.Phe43Cys||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.128T>G|p.Phe43Cys|360/7270|128/5655|43/1884|| chr17 41267749 brca1:p.F43W A C . . OLD_CLUMPED=chr17:41267749:AA/CC;CSQ=C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|360|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.128T>G|ENSP00000326002.6:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|241|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.992)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.128T>G|ENSP00000417988.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|230|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.128T>G|ENSP00000420412.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|230|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.128T>G|ENSP00000417554.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|322|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.128T>G|ENSP00000417148.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|322|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.349)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.128T>G|ENSP00000246907.4:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|289|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.992)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.128T>G|ENSP00000419274.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|241|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.128T>G|ENSP00000419988.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|147|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.128T>G|ENSP00000338007.3:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|254|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.992)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.128T>G|ENSP00000418548.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|227|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.128T>G|ENSP00000420705.2:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|360|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.988)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.128T>G|ENSP00000312236.5:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|247|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.992)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.128T>G|ENSP00000350283.3:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|360|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.961)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.128T>G|ENSP00000418960.2:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|287|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.128T>G|ENSP00000420781.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|321|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.992)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.128T>G|ENSP00000419103.1:p.Phe43Cys||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|177|128|43|F/C|tTt/tGt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|probably_damaging(0.926)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.128T>G|ENSP00000420253.1:p.Phe43Cys||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.128T>G|p.Phe43Cys|360/7270|128/5655|43/1884|| chr17 41267750 brca1:p.F43W A C . . OLD_CLUMPED=chr17:41267749:AA/CC;CSQ=C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|226|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.963)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.127T>G|ENSP00000420705.2:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|253|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.849)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.127T>G|ENSP00000418548.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|146|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.127T>G|ENSP00000338007.3:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|359|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.92)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.127T>G|ENSP00000312236.5:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|359|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.127T>G|ENSP00000326002.6:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|240|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.849)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.127T>G|ENSP00000417988.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|229|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.98)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.127T>G|ENSP00000417554.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|229|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.127T>G|ENSP00000420412.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|321|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.978)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.127T>G|ENSP00000417148.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|240|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.06)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.127T>G|ENSP00000419988.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|288|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.849)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.127T>G|ENSP00000419274.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|321|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.127T>G|ENSP00000246907.4:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|286|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.04)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.127T>G|ENSP00000420781.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|320|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.849)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.127T>G|ENSP00000419103.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|359|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.441)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.127T>G|ENSP00000418960.2:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|176|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.637)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.127T>G|ENSP00000420253.1:p.Phe43Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|246|127|43|F/V|Ttt/Gtt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.849)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.127T>G|ENSP00000350283.3:p.Phe43Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.127T>G|p.Phe43Val|359/7270|127/5655|43/1884|| chr17 41267750 brca1:p.F43D A T . . OLD_CLUMPED=chr17:41267750:AA/TC;CSQ=T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|176|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.637)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.127T>A|ENSP00000420253.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.02)|benign(0.103)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.127T>A|ENSP00000418960.2:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|286|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.127T>A|ENSP00000420781.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|320|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.02)|possibly_damaging(0.589)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.127T>A|ENSP00000419103.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|246|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.03)|possibly_damaging(0.589)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.127T>A|ENSP00000350283.3:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.92)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.127T>A|ENSP00000312236.5:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|253|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.589)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.127T>A|ENSP00000418548.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|146|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.127T>A|ENSP00000338007.3:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|226|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.924)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.127T>A|ENSP00000420705.2:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|321|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|benign(0.194)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.127T>A|ENSP00000246907.4:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|288|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.02)|possibly_damaging(0.589)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.127T>A|ENSP00000419274.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|240|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.127T>A|ENSP00000419988.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|321|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.954)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.127T>A|ENSP00000417148.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|229|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.127T>A|ENSP00000420412.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|229|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|possibly_damaging(0.774)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.127T>A|ENSP00000417554.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.03)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.127T>A|ENSP00000326002.6:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|240|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.589)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.127T>A|ENSP00000417988.1:p.Phe43Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.127T>A|p.Phe43Ile|359/7270|127/5655|43/1884|| chr17 41267750 brca1:p.F43H A T . . OLD_CLUMPED=chr17:41267750:AA/TG;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|246|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.03)|possibly_damaging(0.589)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.127T>A|ENSP00000350283.3:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|176|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.637)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.127T>A|ENSP00000420253.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|286|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.127T>A|ENSP00000420781.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|320|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.02)|possibly_damaging(0.589)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.127T>A|ENSP00000419103.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.02)|benign(0.103)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.127T>A|ENSP00000418960.2:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|240|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.127T>A|ENSP00000419988.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|288|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.02)|possibly_damaging(0.589)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.127T>A|ENSP00000419274.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|321|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|benign(0.194)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.127T>A|ENSP00000246907.4:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|321|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.954)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.127T>A|ENSP00000417148.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|229|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|possibly_damaging(0.774)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.127T>A|ENSP00000417554.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|229|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.127T>A|ENSP00000420412.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.03)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.127T>A|ENSP00000326002.6:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|240|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.589)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.127T>A|ENSP00000417988.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.92)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.127T>A|ENSP00000312236.5:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|226|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.924)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.127T>A|ENSP00000420705.2:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|253|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.589)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.127T>A|ENSP00000418548.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|146|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.127T>A|ENSP00000338007.3:p.Phe43Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.127T>A|p.Phe43Ile|359/7270|127/5655|43/1884|| chr17 41267750 brca1:p.F43N A T . . OLD_CLUMPED=chr17:41267750:AA/TT;CSQ=T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|229|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.127T>A|ENSP00000420412.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|229|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|possibly_damaging(0.774)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.127T>A|ENSP00000417554.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|240|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.589)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.127T>A|ENSP00000417988.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.03)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.127T>A|ENSP00000326002.6:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|288|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.02)|possibly_damaging(0.589)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.127T>A|ENSP00000419274.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|321|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|benign(0.194)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.127T>A|ENSP00000246907.4:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|240|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.127T>A|ENSP00000419988.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|321|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.954)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.127T>A|ENSP00000417148.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|146|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.127T>A|ENSP00000338007.3:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|253|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|possibly_damaging(0.589)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.127T>A|ENSP00000418548.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|226|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.924)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.127T>A|ENSP00000420705.2:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.92)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.127T>A|ENSP00000312236.5:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|246|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.03)|possibly_damaging(0.589)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.127T>A|ENSP00000350283.3:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|359|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.02)|benign(0.103)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.127T>A|ENSP00000418960.2:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|286|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.127T>A|ENSP00000420781.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|320|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.02)|possibly_damaging(0.589)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.127T>A|ENSP00000419103.1:p.Phe43Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|176|127|43|F/I|Ttt/Att|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.637)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.127T>A|ENSP00000420253.1:p.Phe43Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.127T>A|p.Phe43Ile|359/7270|127/5655|43/1884|| chr17 41267750 brca1:p.F43P A G . . OLD_CLUMPED=chr17:41267750:AA/GG;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|359|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.876)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.127T>C|ENSP00000312236.5:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|146|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.127T>C|ENSP00000338007.3:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|253|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.127T>C|ENSP00000418548.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|226|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.949)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.127T>C|ENSP00000420705.2:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|321|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.127T>C|ENSP00000246907.4:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|288|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.127T>C|ENSP00000419274.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|240|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|probably_damaging(0.95)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.127T>C|ENSP00000419988.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|321|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.97)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.127T>C|ENSP00000417148.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|229|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.127T>C|ENSP00000420412.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|229|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.931)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.127T>C|ENSP00000417554.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|240|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|possibly_damaging(0.801)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.127T>C|ENSP00000417988.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|359|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.953)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.127T>C|ENSP00000326002.6:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|176|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.418)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.127T>C|ENSP00000420253.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|359|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.341)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.127T>C|ENSP00000418960.2:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|320|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.801)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.127T>C|ENSP00000419103.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|286|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.127T>C|ENSP00000420781.1:p.Phe43Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|246|127|43|F/L|Ttt/Ctt|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.801)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.127T>C|ENSP00000350283.3:p.Phe43Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.127T>C|p.Phe43Leu|359/7270|127/5655|43/1884|| chr17 41267751 brca1:p.F43D A C . . OLD_CLUMPED=chr17:41267750:AA/TC;CSQ=C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|228|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.06)|probably_damaging(0.997)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.126A>G|ENSP00000417554.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|228|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.03)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.126A>G|ENSP00000420412.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|358|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.126A>G|ENSP00000326002.6:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|239|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.08)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.126A>G|ENSP00000417988.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|239|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.98)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.126A>G|ENSP00000419988.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|287|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.126A>G|ENSP00000419274.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|320|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.959)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.126A>G|ENSP00000246907.4:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|320|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.08)|probably_damaging(0.991)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.126A>G|ENSP00000417148.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|225|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.04)|probably_damaging(0.996)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.126A>G|ENSP00000420705.2:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|145|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.08)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.126A>G|ENSP00000338007.3:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|252|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.08)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.126A>G|ENSP00000418548.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|358|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.12)|probably_damaging(0.964)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.126A>G|ENSP00000312236.5:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|245|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.126A>G|ENSP00000350283.3:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|319|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.126A>G|ENSP00000419103.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|285|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.1)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.126A>G|ENSP00000420781.1:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|358|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.947)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.126A>G|ENSP00000418960.2:p.Ile42Met||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|175|126|42|I/M|atT/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.09)|possibly_damaging(0.639)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.126A>G|ENSP00000420253.1:p.Ile42Met||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.126T>G|p.Ile42Met|358/7270|126/5655|42/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267751 brca1:p.F43H A G . . OLD_CLUMPED=chr17:41267750:AA/TG;CSQ=G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|285|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.126A>C|ENST00000489037.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|319|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.126A>C|ENST00000494123.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|358|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.126A>C|ENST00000471181.2:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|175|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.126A>C|ENST00000492859.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|245|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.126A>C|ENST00000357654.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|225|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.126A>C|ENST00000491747.2:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|252|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.126A>C|ENST00000461221.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|145|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.126A>C|ENST00000351666.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|358|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.126A>C|ENST00000352993.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|228|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.126A>C|ENST00000476777.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|228|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.126A>C|ENST00000478531.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|358|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.126A>C|ENST00000354071.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|239|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.126A>C|ENST00000461798.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|239|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.126A>C|ENST00000477152.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|287|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.126A>C|ENST00000470026.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|320|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.126A>C|ENST00000346315.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|320|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.126A>C|ENST00000468300.1:c.126A>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.126T>C|p.Ile42Ile|358/7270|126/5655|42/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267751 brca1:p.F43N A T . . OLD_CLUMPED=chr17:41267750:AA/TT;CSQ=T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|320|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|287|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|239|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|320|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|228|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|228|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|358|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|239|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|358|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|145|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|252|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|225|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|245|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|175|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|358|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|285|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|319|126|42|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.126T>A|p.Ile42Ile|358/7270|126/5655|42/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267751 brca1:p.F43P A G . . OLD_CLUMPED=chr17:41267750:AA/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|358|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.126A>C|ENST00000471181.2:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|285|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.126A>C|ENST00000489037.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|319|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.126A>C|ENST00000494123.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|175|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.126A>C|ENST00000492859.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|245|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.126A>C|ENST00000357654.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|252|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.126A>C|ENST00000461221.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|145|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.126A>C|ENST00000351666.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|225|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.126A>C|ENST00000491747.2:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|358|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.126A>C|ENST00000352993.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|228|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.126A>C|ENST00000478531.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|228|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.126A>C|ENST00000476777.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|239|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.126A>C|ENST00000461798.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|358|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.126A>C|ENST00000354071.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|287|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.126A>C|ENST00000470026.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|320|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.126A>C|ENST00000346315.3:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|239|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.126A>C|ENST00000477152.1:c.126A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|320|126|42|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.126A>C|ENST00000468300.1:c.126A>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.126T>C|p.Ile42Ile|358/7270|126/5655|42/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267755 brca1:p.H41P T G . . CSQ=G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|171|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.537)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.122A>C|ENSP00000420253.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|354|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.97)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.122A>C|ENSP00000418960.2:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|315|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.122A>C|ENSP00000419103.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|281|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.122A>C|ENSP00000420781.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|241|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.122A>C|ENSP00000350283.3:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|354|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.984)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.122A>C|ENSP00000312236.5:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|141|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.122A>C|ENSP00000338007.3:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|248|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.122A>C|ENSP00000418548.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|221|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.122A>C|ENSP00000420705.2:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|316|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.122A>C|ENSP00000417148.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|283|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.122A>C|ENSP00000419274.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|316|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.18)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.122A>C|ENSP00000246907.4:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|235|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.98)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.122A>C|ENSP00000419988.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|354|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.122A>C|ENSP00000326002.6:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|235|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.122A>C|ENSP00000417988.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|224|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.122A>C|ENSP00000420412.1:p.His41Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|224|122|41|H/P|cAc/cCc|rs80357276&rs397508847&CD014632&CM041684||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.122A>C|ENSP00000417554.1:p.His41Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.122A>C|p.His41Pro|354/7270|122/5655|41/1884|| chr17 41267756 brca1:p.H41F T A . . OLD_CLUMPED=chr17:41267756:TG/AA;CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|240|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.121C>T|ENSP00000350283.3:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|170|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.121C>T|ENSP00000420253.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|353|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.955)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.121C>T|ENSP00000418960.2:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|280|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.121C>T|ENSP00000420781.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|314|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.121C>T|ENSP00000419103.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|315|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.959)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.121C>T|ENSP00000246907.4:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|282|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.121C>T|ENSP00000419274.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|234|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.932)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.121C>T|ENSP00000419988.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|315|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.121C>T|ENSP00000417148.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|223|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.121C>T|ENSP00000420412.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|223|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.121C>T|ENSP00000417554.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|353|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.969)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.121C>T|ENSP00000326002.6:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|234|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.121C>T|ENSP00000417988.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|353|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.946)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.121C>T|ENSP00000312236.5:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|140|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.121C>T|ENSP00000338007.3:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|247|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.121C>T|ENSP00000418548.1:p.Asn41Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|220|121|41|N/Y|Aac/Tac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.121C>T|ENSP00000420705.2:p.Asn41Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.121A>T|p.His41Tyr|353/7270|121/5655|41/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267756 brca1:p.H41T T G . . OLD_CLUMPED=chr17:41267756:TG/GT;CSQ=G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|282|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|315|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|234|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|315|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|223|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|223|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|234|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|353|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|353|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|140|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|247|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|220|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|240|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|170|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|353|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|314|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asn41His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|280|121|41|N/H|Aac/Cac|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asn41His||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.121A>C|p.His41His|353/7270|121/5655|41/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267757 brca1:p.H41F G A . . OLD_CLUMPED=chr17:41267756:TG/AA;CSQ=A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|233|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.120C>T|ENST00000461798.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|352|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.120C>T|ENST00000354071.3:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|222|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.120C>T|ENST00000476777.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|222|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.120C>T|ENST00000478531.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|314|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.120C>T|ENST00000468300.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|233|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.120C>T|ENST00000477152.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|314|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.120C>T|ENST00000346315.3:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|281|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.120C>T|ENST00000470026.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|219|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.120C>T|ENST00000491747.2:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|139|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.120C>T|ENST00000351666.3:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|246|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.120C>T|ENST00000461221.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|352|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.120C>T|ENST00000352993.3:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|239|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.120C>T|ENST00000357654.3:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|279|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.120C>T|ENST00000489037.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|313|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.120C>T|ENST00000494123.1:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|352|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.120C>T|ENST00000471181.2:c.120C>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|169|120|40|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.120C>T|ENST00000492859.1:c.120C>T(p.%3D)||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.120C>T|p.Asp40Asp|352/7270|120/5655|40/1884|| chr17 41267757 brca1:p.H41T G T . . OLD_CLUMPED=chr17:41267756:TG/GT;CSQ=T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|352|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.120C>A|ENSP00000326002.6:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|233|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.120C>A|ENSP00000417988.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|222|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|probably_damaging(0.981)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.120C>A|ENSP00000417554.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|222|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.120C>A|ENSP00000420412.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|314|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.995)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.120C>A|ENSP00000417148.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|233|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.983)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.120C>A|ENSP00000419988.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|281|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.120C>A|ENSP00000419274.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|314|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.846)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.120C>A|ENSP00000246907.4:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|219|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.98)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.120C>A|ENSP00000420705.2:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|139|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.120C>A|ENSP00000338007.3:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|246|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.120C>A|ENSP00000418548.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|352|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.92)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.120C>A|ENSP00000312236.5:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|239|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.120C>A|ENSP00000350283.3:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|279|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.984)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.120C>A|ENSP00000420781.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|313|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.120C>A|ENSP00000419103.1:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|352|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.968)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.120C>A|ENSP00000418960.2:p.Asp40Glu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|169|120|40|D/E|gaC/gaA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|possibly_damaging(0.739)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.120C>A|ENSP00000420253.1:p.Asp40Glu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.120C>A|p.Asp40Glu|352/7270|120/5655|40/1884|| chr17 41267760 brca1:p.C39W A C . . CSQ=C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|219|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.117T>G|ENSP00000420412.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|219|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.117T>G|ENSP00000417554.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|230|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.117T>G|ENSP00000417988.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|349|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.117T>G|ENSP00000326002.6:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|311|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.99)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.117T>G|ENSP00000246907.4:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|278|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.117T>G|ENSP00000419274.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|230|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.117T>G|ENSP00000419988.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|311|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.117T>G|ENSP00000417148.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|136|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.117T>G|ENSP00000338007.3:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|243|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.117T>G|ENSP00000418548.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|216|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.117T>G|ENSP00000420705.2:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|349|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.994)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.117T>G|ENSP00000312236.5:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|236|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.117T>G|ENSP00000350283.3:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|349|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.996)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.117T>G|ENSP00000418960.2:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|276|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.117T>G|ENSP00000420781.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|310|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.117T>G|ENSP00000419103.1:p.Cys39Trp||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|166|117|39|C/W|tgT/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.892)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.117T>G|ENSP00000420253.1:p.Cys39Trp||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.117T>G|p.Cys39Trp|349/7270|117/5655|39/1884|| chr17 41267761 brca1:p.C39F C A . . CSQ=A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|165|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.639)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.116G>T|ENSP00000420253.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|348|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.977)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.116G>T|ENSP00000418960.2:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|275|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.116G>T|ENSP00000420781.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|309|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.116G>T|ENSP00000419103.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|235|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.116G>T|ENSP00000350283.3:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|348|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.116G>T|ENSP00000312236.5:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|242|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.116G>T|ENSP00000418548.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|135|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.116G>T|ENSP00000338007.3:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|215|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.116G>T|ENSP00000420705.2:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|310|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.116G>T|ENSP00000417148.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|277|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.116G>T|ENSP00000419274.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|310|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.959)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.116G>T|ENSP00000246907.4:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|229|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.116G>T|ENSP00000419988.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|348|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.116G>T|ENSP00000326002.6:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|229|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.116G>T|ENSP00000417988.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|218|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.116G>T|ENSP00000420412.1:p.Cys39Phe||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|218|116|39|C/F|tGt/tTt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.116G>T|ENSP00000417554.1:p.Cys39Phe||||||||pathogenic||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.116G>T|p.Cys39Phe|348/7270|116/5655|39/1884|| chr17 41267761 brca1:p.C39Y C T . . CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|235|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.116G>A|ENSP00000350283.3:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|275|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.116G>A|ENSP00000420781.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|309|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.116G>A|ENSP00000419103.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|348|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.977)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.116G>A|ENSP00000418960.2:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|165|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.116G>A|ENSP00000420253.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|348|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.116G>A|ENSP00000326002.6:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|229|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.116G>A|ENSP00000417988.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|218|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.116G>A|ENSP00000417554.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|218|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.116G>A|ENSP00000420412.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|310|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.116G>A|ENSP00000417148.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|229|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.116G>A|ENSP00000419988.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|310|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.972)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.116G>A|ENSP00000246907.4:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|277|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.116G>A|ENSP00000419274.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|215|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.116G>A|ENSP00000420705.2:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|135|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.116G>A|ENSP00000338007.3:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|242|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.116G>A|ENSP00000418548.1:p.Cys39Tyr||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|348|116|39|C/Y|tGt/tAt|rs80357498&CM980216||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.116G>A|ENSP00000312236.5:p.Cys39Tyr||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.116G>A|p.Cys39Tyr|348/7270|116/5655|39/1884|| chr17 41267762 brca1:p.C39A C G . . OLD_CLUMPED=chr17:41267762:CA/GC;CSQ=G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>C|ENSP00000326002.6:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>C|ENSP00000417988.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>C|ENSP00000420412.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>C|ENSP00000417554.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>C|ENSP00000417148.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>C|ENSP00000419274.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.854)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>C|ENSP00000246907.4:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>C|ENSP00000419988.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>C|ENSP00000338007.3:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>C|ENSP00000418548.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>C|ENSP00000420705.2:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>C|ENSP00000312236.5:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>C|ENSP00000350283.3:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.89)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>C|ENSP00000418960.2:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>C|ENSP00000420781.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>C|ENSP00000419103.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>C|ENSP00000420253.1:p.Gly39Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>C|p.Cys39Arg|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267762 brca1:p.C39D C T . . OLD_CLUMPED=chr17:41267762:CA/TC;CSQ=T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>A|ENSP00000420253.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>A|ENSP00000419103.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>A|ENSP00000420781.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.884)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>A|ENSP00000418960.2:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>A|ENSP00000350283.3:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>A|ENSP00000312236.5:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>A|ENSP00000420705.2:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>A|ENSP00000418548.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>A|ENSP00000338007.3:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>A|ENSP00000419988.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>A|ENSP00000419274.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.718)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>A|ENSP00000246907.4:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>A|ENSP00000417148.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>A|ENSP00000417554.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>A|ENSP00000420412.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>A|ENSP00000417988.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>A|ENSP00000326002.6:p.Gly39Ser||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>A|p.Cys39Ser|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267762 brca1:p.C39G A C . . CSQ=C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>G|ENSP00000420781.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>G|ENSP00000419103.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.94)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>G|ENSP00000418960.2:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.537)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>G|ENSP00000420253.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>G|ENSP00000350283.3:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>G|ENSP00000420705.2:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>G|ENSP00000338007.3:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>G|ENSP00000418548.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>G|ENSP00000312236.5:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>G|ENSP00000326002.6:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>G|ENSP00000417988.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>G|ENSP00000417554.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>G|ENSP00000420412.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>G|ENSP00000417148.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>G|ENSP00000419988.1:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.905)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>G|ENSP00000246907.4:p.Cys39Gly||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|C/G|Tgt/Ggt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>G|ENSP00000419274.1:p.Cys39Gly||||||||pathogenic||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115T>G|p.Cys39Gly|347/7270|115/5655|39/1884|| chr17 41267762 brca1:p.C39H C T . . OLD_CLUMPED=chr17:41267762:CA/TG;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>A|ENSP00000312236.5:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>A|ENSP00000420705.2:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>A|ENSP00000338007.3:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>A|ENSP00000418548.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>A|ENSP00000417148.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>A|ENSP00000419988.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>A|ENSP00000419274.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.718)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>A|ENSP00000246907.4:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>A|ENSP00000326002.6:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>A|ENSP00000417988.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>A|ENSP00000417554.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>A|ENSP00000420412.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>A|ENSP00000420253.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>A|ENSP00000420781.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>A|ENSP00000419103.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.884)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>A|ENSP00000418960.2:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>A|ENSP00000350283.3:p.Gly39Ser||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>A|p.Cys39Ser|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267762 brca1:p.C39I C A . . OLD_CLUMPED=chr17:41267762:CA/AT;CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly39Cys||||||||pathogenic||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>T|p.Cys39Cys|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267762 brca1:p.C39N C T . . OLD_CLUMPED=chr17:41267762:CA/TT;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>A|ENSP00000420705.2:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>A|ENSP00000338007.3:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>A|ENSP00000418548.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>A|ENSP00000312236.5:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>A|ENSP00000417554.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>A|ENSP00000420412.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>A|ENSP00000326002.6:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>A|ENSP00000417988.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>A|ENSP00000419988.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.718)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>A|ENSP00000246907.4:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>A|ENSP00000419274.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>A|ENSP00000417148.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>A|ENSP00000420781.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>A|ENSP00000419103.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.884)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>A|ENSP00000418960.2:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>A|ENSP00000420253.1:p.Gly39Ser||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/S|Ggt/Agt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>A|ENSP00000350283.3:p.Gly39Ser||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>A|p.Cys39Ser|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267762 brca1:p.C39P C G . . OLD_CLUMPED=chr17:41267762:CA/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.89)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>C|ENSP00000418960.2:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>C|ENSP00000419103.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>C|ENSP00000420781.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>C|ENSP00000420253.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>C|ENSP00000350283.3:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>C|ENSP00000338007.3:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>C|ENSP00000418548.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>C|ENSP00000420705.2:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>C|ENSP00000312236.5:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>C|ENSP00000417988.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>C|ENSP00000326002.6:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>C|ENSP00000420412.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>C|ENSP00000417554.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>C|ENSP00000417148.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.854)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>C|ENSP00000246907.4:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>C|ENSP00000419274.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>C|ENSP00000419988.1:p.Gly39Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>C|p.Cys39Arg|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267762 brca1:p.C39R A G . . CSQ=G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>C|ENSP00000420705.2:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>C|ENSP00000338007.3:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>C|ENSP00000418548.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>C|ENSP00000312236.5:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>C|ENSP00000417554.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>C|ENSP00000420412.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>C|ENSP00000326002.6:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>C|ENSP00000417988.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>C|ENSP00000419988.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.854)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>C|ENSP00000246907.4:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>C|ENSP00000419274.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>C|ENSP00000417148.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>C|ENSP00000420781.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>C|ENSP00000419103.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.89)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>C|ENSP00000418960.2:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>C|ENSP00000420253.1:p.Cys39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|C/R|Tgt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>C|ENSP00000350283.3:p.Cys39Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115T>C|p.Cys39Arg|347/7270|115/5655|39/1884|| chr17 41267762 brca1:p.C39T C G . . OLD_CLUMPED=chr17:41267762:CA/GT;CSQ=G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.115T>C|ENSP00000417148.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.115T>C|ENSP00000419988.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.115T>C|ENSP00000419274.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.854)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.115T>C|ENSP00000246907.4:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.115T>C|ENSP00000326002.6:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.115T>C|ENSP00000417988.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.115T>C|ENSP00000417554.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.115T>C|ENSP00000420412.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.115T>C|ENSP00000312236.5:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.115T>C|ENSP00000420705.2:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.115T>C|ENSP00000338007.3:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.115T>C|ENSP00000418548.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.115T>C|ENSP00000350283.3:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.115T>C|ENSP00000420253.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.115T>C|ENSP00000420781.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.115T>C|ENSP00000419103.1:p.Gly39Arg||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/R|Ggt/Cgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.89)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.115T>C|ENSP00000418960.2:p.Gly39Arg||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>C|p.Cys39Arg|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267762 brca1:p.C39V C A . . OLD_CLUMPED=chr17:41267762:CA/AC;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|134|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|241|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|214|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|347|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|217|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|217|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|347|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|228|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|276|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|309|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|228|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|309|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|347|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|274|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|308|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|164|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Gly39Cys||||||||pathogenic||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|234|115|39|G/C|Ggt/Tgt|rs80357164&CM040687&CM041683&CM087249||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly39Cys||||||||pathogenic||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.115G>T|p.Cys39Cys|347/7270|115/5655|39/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39A A C . . OLD_CLUMPED=chr17:41267762:CA/GC;CSQ=C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|308|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|227|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|308|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|275|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|227|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|216|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|216|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|213|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|133|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|240|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|233|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|163|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|307|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|273|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AN_OTH=656;ExAC_AC_AFR=2;ExAC_AC_NFE=3;ExAC_AC=429;ExAC_AN_FIN=6270;ExAC_AC_AMR=108;ExAC_AN_AFR=8464;ExAC_AN_AMR=10494;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AF=4.039e-03,4.039e-03;ExAC_AN_EAS=7722;ExAC_AN=106208;ExAC_AC_Adj=426;ExAC_AC_SAS=5;ExAC_AC_EAS=308;ExAC_AN_NFE=50508;ExAC_AC_Hom=8;ExAC=rs1800062;ExAC_AN_SAS=15188;ExAC_AC_Het=410;ExAC_AN_Adj=99302;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>G|p.Lys38Lys|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39D A C . . OLD_CLUMPED=chr17:41267762:CA/TC;CSQ=C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|213|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|133|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|240|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|216|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|216|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|227|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|227|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|275|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|308|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|308|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|273|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|307|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|163|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|233|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AC_Hom=8;ExAC=rs1800062;ExAC_AN_Adj=99302;ExAC_AN_SAS=15188;ExAC_AC_Het=410;ExAC_AN=106208;ExAC_AN_EAS=7722;ExAC_AF=4.039e-03,4.039e-03;ExAC_AN_NFE=50508;ExAC_AC_SAS=5;ExAC_AC_EAS=308;ExAC_AC_Adj=426;ExAC_AN_AMR=10494;ExAC_AN_AFR=8464;ExAC_AC_AMR=108;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AC=429;ExAC_AC_NFE=3;ExAC_AC_AFR=2;ExAC_AN_OTH=656;ExAC_AN_FIN=6270;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>G|p.Lys38Lys|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39H A G . . OLD_CLUMPED=chr17:41267762:CA/TG;CSQ=G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|308|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.114G>C|ENST00000346315.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|275|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.114G>C|ENST00000470026.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|227|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.114G>C|ENST00000477152.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|308|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.114G>C|ENST00000468300.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|216|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.114G>C|ENST00000478531.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|216|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.114G>C|ENST00000476777.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|227|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.114G>C|ENST00000461798.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|346|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.114G>C|ENST00000354071.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|346|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.114G>C|ENST00000352993.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|133|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.114G>C|ENST00000351666.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|240|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.114G>C|ENST00000461221.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|213|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.114G>C|ENST00000491747.2:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|233|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.114G>C|ENST00000357654.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|163|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.114G>C|ENST00000492859.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|346|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.114G>C|ENST00000471181.2:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|273|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.114G>C|ENST00000489037.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|307|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.114G>C|ENST00000494123.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AC=429;ExAC_AC_NFE=3;ExAC_AC_AFR=2;ExAC_AN_OTH=656;ExAC_AN_FIN=6270;ExAC_AN_AMR=10494;ExAC_AN_AFR=8464;ExAC_AC_AMR=108;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN=106208;ExAC_AN_EAS=7722;ExAC_AF=4.039e-03,4.039e-03;ExAC_AN_NFE=50508;ExAC_AC_EAS=308;ExAC_AC_SAS=5;ExAC_AC_Adj=426;ExAC_AC_Hom=8;ExAC=rs1800062;ExAC_AN_Adj=99302;ExAC_AC_Het=410;ExAC_AN_SAS=15188;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>C|p.Lys38Asn|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39I A T . . OLD_CLUMPED=chr17:41267762:CA/AT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|233|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.114G>A|ENSP00000350283.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|163|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.114G>A|ENSP00000420253.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.114G>A|ENSP00000418960.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|273|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.114G>A|ENSP00000420781.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|307|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.114G>A|ENSP00000419103.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|308|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.114G>A|ENSP00000417148.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|308|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.114G>A|ENSP00000246907.4:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|275|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.114G>A|ENSP00000419274.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|227|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.114G>A|ENSP00000419988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.114G>A|ENSP00000326002.6:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|227|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.114G>A|ENSP00000417988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|216|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.114G>A|ENSP00000420412.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|216|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.114G>A|ENSP00000417554.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.114G>A|ENSP00000312236.5:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|133|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.114G>A|ENSP00000338007.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|240|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.114G>A|ENSP00000418548.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|213|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.114G>A|ENSP00000420705.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AN_FIN=6270;ExAC_AC=429;ExAC_AC_NFE=3;ExAC_AN_OTH=656;ExAC_AC_AFR=2;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AN_AFR=8464;ExAC_AN_AMR=10494;ExAC_AC_AMR=108;ExAC_AC_SAS=5;ExAC_AC_EAS=308;ExAC_AN_NFE=50508;ExAC_AC_Adj=426;ExAC_AN_EAS=7722;ExAC_AN=106208;ExAC_AF=4.039e-03,4.039e-03;ExAC_AN_Adj=99302;ExAC_AC_Het=410;ExAC_AN_SAS=15188;ExAC_AC_Hom=8;ExAC=rs1800062;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>A|p.Lys38Lys|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39N A T . . OLD_CLUMPED=chr17:41267762:CA/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|233|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.114G>A|ENSP00000350283.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|163|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.114G>A|ENSP00000420253.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|273|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.114G>A|ENSP00000420781.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|307|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.114G>A|ENSP00000419103.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.114G>A|ENSP00000418960.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|227|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.114G>A|ENSP00000419988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|308|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.114G>A|ENSP00000246907.4:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|275|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.114G>A|ENSP00000419274.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|308|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.114G>A|ENSP00000417148.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|216|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.114G>A|ENSP00000417554.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|216|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.114G>A|ENSP00000420412.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|227|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.114G>A|ENSP00000417988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.114G>A|ENSP00000326002.6:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.114G>A|ENSP00000312236.5:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|213|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.114G>A|ENSP00000420705.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|133|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.114G>A|ENSP00000338007.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|240|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.114G>A|ENSP00000418548.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AC_NFE=3;ExAC_AC=429;ExAC_AN_OTH=656;ExAC_AC_AFR=2;ExAC_AN_FIN=6270;ExAC_AN_AMR=10494;ExAC_AN_AFR=8464;ExAC_AC_AMR=108;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN=106208;ExAC_AN_EAS=7722;ExAC_AF=4.039e-03,4.039e-03;ExAC_AN_NFE=50508;ExAC_AC_EAS=308;ExAC_AC_SAS=5;ExAC_AC_Adj=426;ExAC_AC_Hom=8;ExAC=rs1800062;ExAC_AN_Adj=99302;ExAC_AC_Het=410;ExAC_AN_SAS=15188;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>A|p.Lys38Lys|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39P A G . . OLD_CLUMPED=chr17:41267762:CA/GG;CSQ=G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|133|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.114G>C|ENST00000351666.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|240|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.114G>C|ENST00000461221.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|213|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.114G>C|ENST00000491747.2:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|346|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.114G>C|ENST00000352993.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|216|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.114G>C|ENST00000478531.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|216|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.114G>C|ENST00000476777.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|346|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.114G>C|ENST00000354071.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|227|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.114G>C|ENST00000461798.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|308|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.114G>C|ENST00000346315.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|275|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.114G>C|ENST00000470026.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|227|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.114G>C|ENST00000477152.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|308|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.114G>C|ENST00000468300.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|346|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.114G>C|ENST00000471181.2:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|307|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.114G>C|ENST00000494123.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|273|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.114G>C|ENST00000489037.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|163|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.114G>C|ENST00000492859.1:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|233|114|38|N|aaT/aaC|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.114G>C|ENST00000357654.3:c.114G>C(p.%3D)|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AN_AFR=8464;ExAC_AN_AMR=10494;ExAC_AC_AMR=108;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC=429;ExAC_AC_NFE=3;ExAC_AN_OTH=656;ExAC_AC_AFR=2;ExAC_AN_FIN=6270;ExAC_AC_Hom=8;ExAC=rs1800062;ExAC_AN_Adj=99302;ExAC_AN_SAS=15188;ExAC_AC_Het=410;ExAC_AN_EAS=7722;ExAC_AN=106208;ExAC_AF=4.039e-03,4.039e-03;ExAC_AC_EAS=308;ExAC_AC_SAS=5;ExAC_AN_NFE=50508;ExAC_AC_Adj=426;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>C|p.Lys38Asn|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39T A T . . OLD_CLUMPED=chr17:41267762:CA/GT;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.114G>A|ENSP00000418960.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|307|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.114G>A|ENSP00000419103.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|273|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.114G>A|ENSP00000420781.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|163|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.114G>A|ENSP00000420253.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|233|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.114G>A|ENSP00000350283.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|133|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.114G>A|ENSP00000338007.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|240|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.114G>A|ENSP00000418548.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|213|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.114G>A|ENSP00000420705.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.114G>A|ENSP00000312236.5:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|346|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.114G>A|ENSP00000326002.6:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|227|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.114G>A|ENSP00000417988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|216|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.114G>A|ENSP00000420412.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|216|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.114G>A|ENSP00000417554.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|308|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.114G>A|ENSP00000417148.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|308|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.114G>A|ENSP00000246907.4:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|275|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.114G>A|ENSP00000419274.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|227|114|38|N/K|aaT/aaA|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.114G>A|ENSP00000419988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AN_FIN=6270;ExAC_AN_OTH=656;ExAC_AC_AFR=2;ExAC_AC_NFE=3;ExAC_AC=429;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AC_AMR=108;ExAC_AN_AMR=10494;ExAC_AN_AFR=8464;ExAC_AC_Adj=426;ExAC_AN_NFE=50508;ExAC_AC_SAS=5;ExAC_AC_EAS=308;ExAC_AF=4.039e-03,4.039e-03;ExAC_AN=106208;ExAC_AN_EAS=7722;ExAC_AN_SAS=15188;ExAC_AC_Het=410;ExAC_AN_Adj=99302;ExAC_AC_Hom=8;ExAC=rs1800062;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>A|p.Lys38Lys|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267763 brca1:p.C39V A C . . OLD_CLUMPED=chr17:41267762:CA/AC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|233|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|163|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|273|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|307|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|308|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|227|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|308|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|275|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|227|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|216|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|216|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|346|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|213|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|133|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|240|114|38|N/K|aaT/aaG|rs1800062&CM041682&COSM133664||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Asn38Lys|T:0.0170|T:0.0020|T:0.01|T:0.06|||||0&0&1|||||||||;ExAC_AC_Adj=426;ExAC_AC_EAS=308;ExAC_AC_SAS=5;ExAC_AN_NFE=50508;ExAC_AF=4.039e-03,4.039e-03;ExAC_AN_EAS=7722;ExAC_AN=106208;ExAC_AC_Het=410;ExAC_AN_SAS=15188;ExAC_AN_Adj=99302;ExAC_AC_Hom=8;ExAC=rs1800062;ExAC_AN_FIN=6270;ExAC_AC_AFR=2;ExAC_AN_OTH=656;ExAC_AC=429;ExAC_AC_NFE=3;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AMR=108;ExAC_AN_AFR=8464;ExAC_AN_AMR=10494;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.114T>G|p.Lys38Lys|346/7270|114/5655|38/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267765 brca1:p.K38W T C . . OLD_CLUMPED=chr17:41267765:TT/CA;CSQ=C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|344|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.737)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.112A>G|ENSP00000418960.2:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|271|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|benign(0.421)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.112A>G|ENSP00000420781.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|305|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.99)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.112A>G|ENSP00000419103.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|161|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|possibly_damaging(0.621)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.112A>G|ENSP00000420253.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|231|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.99)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.112A>G|ENSP00000350283.3:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|238|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(0.99)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.112A>G|ENSP00000418548.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|131|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.112A>G|ENSP00000338007.3:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|211|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|possibly_damaging(0.895)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.112A>G|ENSP00000420705.2:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|344|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.824)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.112A>G|ENSP00000312236.5:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|214|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.112A>G|ENSP00000420412.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|214|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.839)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.112A>G|ENSP00000417554.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|344|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.981)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.112A>G|ENSP00000326002.6:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|225|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(0.99)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.112A>G|ENSP00000417988.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|306|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.194)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.112A>G|ENSP00000246907.4:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|273|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.99)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.112A>G|ENSP00000419274.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|225|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.973)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.112A>G|ENSP00000419988.1:p.Lys38Glu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|306|112|38|K/E|Aag/Gag|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.966)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.112A>G|ENSP00000417148.1:p.Lys38Glu||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.112A>G|p.Lys38Glu|344/7270|112/5655|38/1884|| chr17 41267766 brca1:p.K38W T A . . OLD_CLUMPED=chr17:41267765:TT/CA;CSQ=A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|343|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.111A>T|ENST00000471181.2:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|304|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.111A>T|ENST00000494123.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|270|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.111A>T|ENST00000489037.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|160|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.111A>T|ENST00000492859.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|230|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.111A>T|ENST00000357654.3:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|130|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.111A>T|ENST00000351666.3:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|237|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.111A>T|ENST00000461221.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|210|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.111A>T|ENST00000491747.2:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|343|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.111A>T|ENST00000352993.3:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|213|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.111A>T|ENST00000478531.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|213|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.111A>T|ENST00000476777.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|224|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.111A>T|ENST00000461798.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|343|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.111A>T|ENST00000354071.3:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|272|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.111A>T|ENST00000470026.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|305|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.111A>T|ENST00000346315.3:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|224|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.111A>T|ENST00000477152.1:c.111A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|305|111|37|T|acA/acT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.111A>T|ENST00000468300.1:c.111A>T(p.%3D)||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.111A>T|p.Thr37Thr|343/7270|111/5655|37/1884|| chr17 41267773 brca1:p.V35D A T . . CSQ=T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|206|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.104T>A|ENSP00000420412.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|206|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.993)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.104T>A|ENSP00000417554.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|217|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.104T>A|ENSP00000417988.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|336|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.104T>A|ENSP00000326002.6:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|298|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.844)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.104T>A|ENSP00000246907.4:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|265|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.104T>A|ENSP00000419274.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|217|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.988)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.104T>A|ENSP00000419988.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|298|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.996)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.104T>A|ENSP00000417148.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|123|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.104T>A|ENSP00000338007.3:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|230|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.104T>A|ENSP00000418548.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|203|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.997)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.104T>A|ENSP00000420705.2:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|336|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.976)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.104T>A|ENSP00000312236.5:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|223|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.104T>A|ENSP00000350283.3:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|336|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.931)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.104T>A|ENSP00000418960.2:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|263|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.994)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.104T>A|ENSP00000420781.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|297|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.104T>A|ENSP00000419103.1:p.Val35Asp||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|153|104|35|V/D|gTc/gAc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.788)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.104T>A|ENSP00000420253.1:p.Val35Asp||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.104T>A|p.Val35Asp|336/7270|104/5655|35/1884|| chr17 41267773 brca1:p.V35G A C . . CSQ=C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|336|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.961)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.104T>G|ENSP00000312236.5:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|123|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.104T>G|ENSP00000338007.3:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|230|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.104T>G|ENSP00000418548.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|203|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.994)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.104T>G|ENSP00000420705.2:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|298|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.996)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.104T>G|ENSP00000417148.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|298|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.96)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.104T>G|ENSP00000246907.4:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|265|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.104T>G|ENSP00000419274.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|217|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.981)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.104T>G|ENSP00000419988.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|336|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.104T>G|ENSP00000326002.6:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|217|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.104T>G|ENSP00000417988.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|206|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.104T>G|ENSP00000420412.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|206|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.995)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.104T>G|ENSP00000417554.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|153|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.637)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.104T>G|ENSP00000420253.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|336|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.931)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.104T>G|ENSP00000418960.2:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|263|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.992)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.104T>G|ENSP00000420781.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|297|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.104T>G|ENSP00000419103.1:p.Val35Gly||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|223|104|35|V/G|gTc/gGc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.104T>G|ENSP00000350283.3:p.Val35Gly||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.104T>G|p.Val35Gly|336/7270|104/5655|35/1884|| chr17 41267774 brca1:p.V35P A G . . OLD_CLUMPED=chr17:41267774:AC/GG;CSQ=G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|297|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.928)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.103G>C|ENSP00000417148.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|264|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.103G>C|ENSP00000419274.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|297|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.718)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.103G>C|ENSP00000246907.4:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|216|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.935)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.103G>C|ENSP00000419988.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|335|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.971)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.103G>C|ENSP00000326002.6:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|216|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(0.999)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.103G>C|ENSP00000417988.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|205|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.02)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.103G>C|ENSP00000420412.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|205|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.581)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.103G>C|ENSP00000417554.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|335|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|benign(0.363)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.103G>C|ENSP00000312236.5:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|122|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.103G>C|ENSP00000338007.3:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|229|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.103G>C|ENSP00000418548.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|202|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|possibly_damaging(0.882)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.103G>C|ENSP00000420705.2:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|222|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.103G>C|ENSP00000350283.3:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|152|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.03)|benign(0.299)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.103G>C|ENSP00000420253.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|335|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.718)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.103G>C|ENSP00000418960.2:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|262|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|possibly_damaging(0.784)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.103G>C|ENSP00000420781.1:p.Phe35Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|296|103|35|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.103G>C|ENSP00000419103.1:p.Phe35Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.103T>C|p.Val35Leu|335/7270|103/5655|35/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267775 brca1:p.V35P C G . . OLD_CLUMPED=chr17:41267774:AC/GG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|221|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.102T>C|ENST00000357654.3:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|261|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.102T>C|ENST00000489037.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|295|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.102T>C|ENST00000494123.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|334|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.102T>C|ENST00000471181.2:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|151|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.102T>C|ENST00000492859.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|204|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.102T>C|ENST00000476777.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|204|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.102T>C|ENST00000478531.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|334|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.102T>C|ENST00000354071.3:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|215|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.102T>C|ENST00000461798.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|215|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.102T>C|ENST00000477152.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|263|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.102T>C|ENST00000470026.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|296|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.102T>C|ENST00000346315.3:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|296|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.102T>C|ENST00000468300.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|201|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.102T>C|ENST00000491747.2:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|121|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.102T>C|ENST00000351666.3:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|228|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.102T>C|ENST00000461221.1:c.102T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|334|102|34|P|ccG/ccC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.102T>C|ENST00000352993.3:c.102T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.102G>C|p.Pro34Pro|334/7270|102/5655|34/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267777 brca1:p.P34F G A . . OLD_CLUMPED=chr17:41267777:GG/AA;CSQ=A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|259|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.100C>T|ENSP00000420781.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|293|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.100C>T|ENSP00000419103.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|332|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.964)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.100C>T|ENSP00000418960.2:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|149|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.876)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.100C>T|ENSP00000420253.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|219|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.100C>T|ENSP00000350283.3:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|199|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.100C>T|ENSP00000420705.2:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|119|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.100C>T|ENSP00000338007.3:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|226|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.100C>T|ENSP00000418548.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|332|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.994)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.100C>T|ENSP00000312236.5:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|202|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.100C>T|ENSP00000417554.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|202|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.100C>T|ENSP00000420412.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|332|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.996)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.100C>T|ENSP00000326002.6:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|213|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.100C>T|ENSP00000417988.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|213|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.992)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.100C>T|ENSP00000419988.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|261|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.100C>T|ENSP00000419274.1:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|294|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.978)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.100C>T|ENSP00000246907.4:p.Pro34Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|294|100|34|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.100C>T|ENSP00000417148.1:p.Pro34Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.100C>T|p.Pro34Ser|332/7270|100/5655|34/1884|| chr17 41267777 brca1:p.P34Y G T . . OLD_CLUMPED=chr17:41267777:GG/TA;CSQ=T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|119|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.100C>A|ENSP00000338007.3:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|226|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.100C>A|ENSP00000418548.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|199|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.100C>A|ENSP00000420705.2:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|332|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.996)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.100C>A|ENSP00000312236.5:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|202|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.100C>A|ENSP00000420412.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|202|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.100C>A|ENSP00000417554.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|213|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.100C>A|ENSP00000417988.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|332|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.996)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.100C>A|ENSP00000326002.6:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|261|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.100C>A|ENSP00000419274.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|294|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.984)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.100C>A|ENSP00000246907.4:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|213|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.995)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.100C>A|ENSP00000419988.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|294|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.100C>A|ENSP00000417148.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|332|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.981)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.100C>A|ENSP00000418960.2:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|259|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.100C>A|ENSP00000420781.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|293|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.100C>A|ENSP00000419103.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|149|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.876)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.100C>A|ENSP00000420253.1:p.Pro34Thr||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|219|100|34|P/T|Cct/Act|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.100C>A|ENSP00000350283.3:p.Pro34Thr||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.100C>A|p.Pro34Thr|332/7270|100/5655|34/1884|| chr17 41267778 brca1:p.P34F G A . . OLD_CLUMPED=chr17:41267777:GG/AA;CSQ=A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|331|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.99A>T|ENST00000352993.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|225|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.99A>T|ENST00000461221.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|118|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.99A>T|ENST00000351666.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|198|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.99A>T|ENST00000491747.2:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|293|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.99A>T|ENST00000468300.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|293|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.99A>T|ENST00000346315.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|260|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.99A>T|ENST00000470026.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|212|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.99A>T|ENST00000477152.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|212|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.99A>T|ENST00000461798.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|331|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.99A>T|ENST00000354071.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|201|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.99A>T|ENST00000478531.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|201|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.99A>T|ENST00000476777.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|148|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.99A>T|ENST00000492859.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|331|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.99A>T|ENST00000471181.2:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|258|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.99A>T|ENST00000489037.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|292|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.99A>T|ENST00000494123.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|218|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.99A>T|ENST00000357654.3:c.99A>T(p.%3D)||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.99C>T|p.Glu33Asp|331/7270|99/5655|33/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267778 brca1:p.P34Y G A . . OLD_CLUMPED=chr17:41267777:GG/TA;CSQ=A|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|148|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.99A>T|ENST00000492859.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|258|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.99A>T|ENST00000489037.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|292|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.99A>T|ENST00000494123.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|331|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.99A>T|ENST00000471181.2:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|218|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.99A>T|ENST00000357654.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|331|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.99A>T|ENST00000352993.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|198|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.99A>T|ENST00000491747.2:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|118|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.99A>T|ENST00000351666.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|225|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.99A>T|ENST00000461221.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|212|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.99A>T|ENST00000477152.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|293|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.99A>T|ENST00000346315.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|260|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.99A>T|ENST00000470026.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|293|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.99A>T|ENST00000468300.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|201|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.99A>T|ENST00000476777.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|201|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.99A>T|ENST00000478531.1:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|331|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.99A>T|ENST00000354071.3:c.99A>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|212|99|33|D|gaC/gaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.99A>T|ENST00000461798.1:c.99A>T(p.%3D)||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.99C>T|p.Glu33Asp|331/7270|99/5655|33/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267780 brca1:p.E33P T G . . OLD_CLUMPED=chr17:41267780:TC/GG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|216|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.97G>C|ENSP00000350283.3:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|146|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.04)|possibly_damaging(0.728)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.97G>C|ENSP00000420253.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|329|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.947)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.97G>C|ENSP00000418960.2:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|256|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.04)|probably_damaging(1)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.97G>C|ENSP00000420781.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|290|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.97G>C|ENSP00000419103.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|258|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.97G>C|ENSP00000419274.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|291|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.919)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.97G>C|ENSP00000246907.4:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|210|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.982)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.97G>C|ENSP00000419988.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|291|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.04)|probably_damaging(0.992)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.97G>C|ENSP00000417148.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|199|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.97G>C|ENSP00000420412.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|199|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|probably_damaging(0.996)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.97G>C|ENSP00000417554.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|329|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.97G>C|ENSP00000326002.6:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|210|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.06)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.97G>C|ENSP00000417988.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|329|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.05)|probably_damaging(0.964)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.97G>C|ENSP00000312236.5:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|223|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.06)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.97G>C|ENSP00000418548.1:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|116|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.06)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.97G>C|ENSP00000338007.3:p.Lys33Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|196|97|33|K/Q|Aaa/Caa|rs80357066||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.97G>C|ENSP00000420705.2:p.Lys33Gln||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.97A>C|p.Glu33Gln|329/7270|97/5655|33/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267781 brca1:p.E33P C G . . OLD_CLUMPED=chr17:41267780:TC/GG;CSQ=G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|290|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.96)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.96G>C|ENSP00000246907.4:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|257|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.995)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.96G>C|ENSP00000419274.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|209|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.987)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.96G>C|ENSP00000419988.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|290|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.986)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.96G>C|ENSP00000417148.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|198|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.96G>C|ENSP00000420412.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|198|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.934)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.96G>C|ENSP00000417554.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|328|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.792)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.96G>C|ENSP00000326002.6:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|209|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.05)|probably_damaging(0.995)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.96G>C|ENSP00000417988.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|328|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.03)|probably_damaging(0.981)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.96G>C|ENSP00000312236.5:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|222|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.05)|probably_damaging(0.995)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.96G>C|ENSP00000418548.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|115|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.96G>C|ENSP00000338007.3:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|195|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.986)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.96G>C|ENSP00000420705.2:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|215|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.995)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.96G>C|ENSP00000350283.3:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|145|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.03)|possibly_damaging(0.728)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.96G>C|ENSP00000420253.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|328|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.93)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.96G>C|ENSP00000418960.2:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|255|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.05)|probably_damaging(0.966)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.96G>C|ENSP00000420781.1:p.Lys32Asn||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|289|96|32|K/N|aaG/aaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.995)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.96G>C|ENSP00000419103.1:p.Lys32Asn||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.96G>C|p.Lys32Asn|328/7270|96/5655|32/1884|| chr17 41267792 brca1:p.E29K C T . . CSQ=T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|279|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.997)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.85G>A|ENSP00000417148.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|198|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.973)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.85G>A|ENSP00000419988.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|246|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.85G>A|ENSP00000419274.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|279|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.194)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.85G>A|ENSP00000246907.4:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|198|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.85G>A|ENSP00000417988.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|317|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.714)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.85G>A|ENSP00000326002.6:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|187|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.946)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.85G>A|ENSP00000417554.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|187|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.85G>A|ENSP00000420412.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|317|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|probably_damaging(0.946)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.85G>A|ENSP00000312236.5:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|184|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|probably_damaging(0.984)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.85G>A|ENSP00000420705.2:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|211|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.85G>A|ENSP00000418548.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|104|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.85G>A|ENSP00000338007.3:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|204|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.85G>A|ENSP00000350283.3:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|134|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|possibly_damaging(0.621)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.85G>A|ENSP00000420253.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|244|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|possibly_damaging(0.857)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.85G>A|ENSP00000420781.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|278|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.85G>A|ENSP00000419103.1:p.Glu29Lys||||||||pathogenic||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|317|85|29|E/K|Gag/Aag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.967)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.85G>A|ENSP00000418960.2:p.Glu29Lys||||||||pathogenic||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.85G>A|p.Glu29Lys|317/7270|85/5655|29/1884|| chr17 41267792 brca1:p.E29P T G . . OLD_CLUMPED=chr17:41267792:TC/GG;CSQ=G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|134|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.09)|possibly_damaging(0.728)|3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.85G>C|ENSP00000420253.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|244|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.08)|probably_damaging(0.963)|3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.85G>C|ENSP00000420781.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|278|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.85G>C|ENSP00000419103.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|317|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.967)|3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.85G>C|ENSP00000418960.2:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|204|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.85G>C|ENSP00000350283.3:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|317|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.03)|probably_damaging(0.964)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.85G>C|ENSP00000312236.5:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|184|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|probably_damaging(0.99)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.85G>C|ENSP00000420705.2:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|104|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.85G>C|ENSP00000338007.3:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|211|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|probably_damaging(1)|3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.85G>C|ENSP00000418548.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|198|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.982)|3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.85G>C|ENSP00000419988.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|279|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.94)|3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.85G>C|ENSP00000246907.4:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|246|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.85G>C|ENSP00000419274.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|279|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.02)|probably_damaging(0.997)|3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.85G>C|ENSP00000417148.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|187|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|probably_damaging(0.97)|3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.85G>C|ENSP00000417554.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|187|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.02)||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.85G>C|ENSP00000420412.1:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|317|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.792)|3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.85G>C|ENSP00000326002.6:p.Lys29Gln||||||||pathogenic||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|198|85|29|K/Q|Aag/Cag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|probably_damaging(1)|3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.85G>C|ENSP00000417988.1:p.Lys29Gln||||||||pathogenic||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.85A>C|p.Glu29Gln|317/7270|85/5655|29/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267792 brca1:p.E29W T C . . OLD_CLUMPED=chr17:41267792:TC/CA;CSQ=C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|187|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|187|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|317|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|198|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|246|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|279|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|198|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|279|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|211|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|104|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|184|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|317|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|204|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|317|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|244|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|278|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys29Glu||||||||pathogenic||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|134|85|29|K/E|Aag/Gag|rs80357443||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Lys29Glu||||||||pathogenic||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.85A>G|p.Glu29Glu|317/7270|85/5655|29/1884||WARNING_REF_DOES_NOT_MATCH_GENOME chr17 41267793 brca1:p.E29P C G . . OLD_CLUMPED=chr17:41267792:TC/GG;CSQ=G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|183|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.84G>C|ENST00000491747.2:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|103|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.84G>C|ENST00000351666.3:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|210|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.84G>C|ENST00000461221.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|316|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.84G>C|ENST00000352993.3:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|316|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.84G>C|ENST00000354071.3:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|197|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.84G>C|ENST00000461798.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|186|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.84G>C|ENST00000476777.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|186|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.84G>C|ENST00000478531.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|278|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.84G>C|ENST00000468300.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|197|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.84G>C|ENST00000477152.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|245|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.84G>C|ENST00000470026.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|278|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.84G>C|ENST00000346315.3:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|243|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.84G>C|ENST00000489037.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|277|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.84G>C|ENST00000494123.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|316|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.84G>C|ENST00000471181.2:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|133|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.84G>C|ENST00000492859.1:c.84G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|203|84|28|L|ctG/ctC|CD086714||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.84G>C|ENST00000357654.3:c.84G>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.84G>C|p.Leu28Leu|316/7270|84/5655|28/1884|| chr17 41267793 brca1:p.E29W C A . . OLD_CLUMPED=chr17:41267792:TC/CA;CSQ=A|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|133|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||3/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.84G>T|ENST00000492859.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|243|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||3/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.84G>T|ENST00000489037.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|277|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.84G>T|ENST00000494123.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|316|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||3/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.84G>T|ENST00000471181.2:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|203|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||3/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.84G>T|ENST00000357654.3:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|316|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.84G>T|ENST00000352993.3:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|183|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.84G>T|ENST00000491747.2:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|103|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||2/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.84G>T|ENST00000351666.3:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|210|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.84G>T|ENST00000461221.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|197|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||3/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.84G>T|ENST00000477152.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|245|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||3/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.84G>T|ENST00000470026.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|278|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||3/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.84G>T|ENST00000346315.3:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|278|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||3/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.84G>T|ENST00000468300.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|186|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||3/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.84G>T|ENST00000476777.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|186|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||3/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.84G>T|ENST00000478531.1:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|316|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||3/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.84G>T|ENST00000354071.3:c.84G>T(p.%3D)||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|197|84|28|L|ctG/ctT|CD086714||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||3/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.84G>T|ENST00000461798.1:c.84G>T(p.%3D)||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|3/24|c.84G>T|p.Leu28Leu|316/7270|84/5655|28/1884|| chr17 41276038 brca1:p.I26P A G . . OLD_CLUMPED=chr17:41276038:AT/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|308|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.718)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.76A>C|ENSP00000418960.2:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|269|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.76A>C|ENSP00000419103.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|235|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.09)|probably_damaging(0.998)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.76A>C|ENSP00000420781.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|125|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.112)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.76A>C|ENSP00000420253.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|195|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.76A>C|ENSP00000350283.3:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|202|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.998)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.76A>C|ENSP00000418548.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|95|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.76A>C|ENSP00000338007.3:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|175|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.03)|probably_damaging(0.985)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.76A>C|ENSP00000420705.2:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|308|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|possibly_damaging(0.561)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.76A>C|ENSP00000312236.5:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|308|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.894)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.76A>C|ENSP00000326002.6:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|189|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.998)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.76A>C|ENSP00000417988.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|178|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.03)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.76A>C|ENSP00000420412.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|178|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.945)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.76A>C|ENSP00000417554.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|270|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.03)|probably_damaging(0.993)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.76A>C|ENSP00000417148.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|237|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.76A>C|ENSP00000419274.1:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|270|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.625)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.76A>C|ENSP00000246907.4:p.Phe26Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|189|76|26|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.08)|possibly_damaging(0.768)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.76A>C|ENSP00000419988.1:p.Phe26Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.76T>C|p.Ile26Leu|308/7270|76/5655|26/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1562| chr17 41276039 brca1:p.I26P T G . . OLD_CLUMPED=chr17:41276038:AT/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|307|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|234|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|268|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|124|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|194|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|94|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|201|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|174|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|307|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|177|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|177|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|307|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|188|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|236|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|269|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|188|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|269|75|25|P|ccA/ccC|rs80356839||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||;ExAC_AC_Hom=0;ExAC=rs80356839;ExAC_AN_SAS=16384;ExAC_AC_Het=1;ExAC_AN_Adj=105880;ExAC_AF=9.416e-06,9.416e-06;ExAC_AN=106204;ExAC_AN_EAS=7866;ExAC_AC_Adj=1;ExAC_AN_NFE=54092;ExAC_AC_EAS=1;ExAC_AC_SAS=0;ExAC_AC_AMR=0;ExAC_AN_AMR=11186;ExAC_AN_AFR=9054;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN_OTH=692;ExAC_AC_AFR=0;ExAC_AC_NFE=0;ExAC_AC=1;ExAC_AN_FIN=6606;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.75A>C|p.Pro25Pro|307/7270|75/5655|25/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1561| chr17 41276040 brca1:p.P25L G A . . CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|193|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.74C>T|ENSP00000350283.3:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|267|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.74C>T|ENSP00000419103.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|233|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.74C>T|ENSP00000420781.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|306|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.95)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.74C>T|ENSP00000418960.2:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|123|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.908)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.74C>T|ENSP00000420253.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|306|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.74C>T|ENSP00000326002.6:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|187|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.74C>T|ENSP00000417988.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|176|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.74C>T|ENSP00000417554.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|176|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.74C>T|ENSP00000420412.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|268|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.999)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.74C>T|ENSP00000417148.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|187|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.995)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.74C>T|ENSP00000419988.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|235|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.74C>T|ENSP00000419274.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|268|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.885)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.74C>T|ENSP00000246907.4:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|173|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.74C>T|ENSP00000420705.2:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|200|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.74C>T|ENSP00000418548.1:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|93|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.74C>T|ENSP00000338007.3:p.Pro25Leu||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|306|74|25|P/L|cCc/cTc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.964)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.74C>T|ENSP00000312236.5:p.Pro25Leu||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.74C>T|p.Pro25Leu|306/7270|74/5655|25/1884||,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>A|||||1560| chr17 41276041 brca1:p.P25N G T . . OLD_CLUMPED=chr17:41276041:GG/TT;CSQ=T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|186|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.995)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.73C>A|ENSP00000419988.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|267|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.935)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.73C>A|ENSP00000246907.4:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|234|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.73C>A|ENSP00000419274.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|267|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.997)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.73C>A|ENSP00000417148.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|175|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.999)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.73C>A|ENSP00000417554.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|175|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.73C>A|ENSP00000420412.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|186|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.18)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.73C>A|ENSP00000417988.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|305|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.996)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.73C>A|ENSP00000326002.6:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|305|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.946)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.73C>A|ENSP00000312236.5:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|172|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.73C>A|ENSP00000420705.2:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|92|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.73C>A|ENSP00000338007.3:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|199|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.18)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.73C>A|ENSP00000418548.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|192|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.73C>A|ENSP00000350283.3:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|122|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.19)|possibly_damaging(0.876)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.73C>A|ENSP00000420253.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|232|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.12)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.73C>A|ENSP00000420781.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|266|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.73C>A|ENSP00000419103.1:p.Pro25Thr||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|305|73|25|P/T|Ccc/Acc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.981)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.73C>A|ENSP00000418960.2:p.Pro25Thr||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.73C>A|p.Pro25Thr|305/7270|73/5655|25/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>T|||||1559| chr17 41276041 brca1:p.P25V G A . . OLD_CLUMPED=chr17:41276041:GG/AC;CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|192|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.73C>T|ENSP00000350283.3:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|232|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.73C>T|ENSP00000420781.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|266|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.73C>T|ENSP00000419103.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|305|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.974)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.73C>T|ENSP00000418960.2:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|122|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.1)|possibly_damaging(0.876)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.73C>T|ENSP00000420253.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|175|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.984)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.73C>T|ENSP00000417554.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|175|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.73C>T|ENSP00000420412.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|305|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.996)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.73C>T|ENSP00000326002.6:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|186|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.11)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.73C>T|ENSP00000417988.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|186|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.992)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.73C>T|ENSP00000419988.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|267|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.882)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.73C>T|ENSP00000246907.4:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|234|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.73C>T|ENSP00000419274.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|267|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.984)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.73C>T|ENSP00000417148.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|172|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.73C>T|ENSP00000420705.2:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|92|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.73C>T|ENSP00000338007.3:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|199|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.11)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.73C>T|ENSP00000418548.1:p.Pro25Ser||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|305|73|25|P/S|Ccc/Tcc|rs397509313&CD951602&CM067352||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.661)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.73C>T|ENSP00000312236.5:p.Pro25Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.73C>T|p.Pro25Ser|305/7270|73/5655|25/1884||,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>A|||||1559| chr17 41276042 brca1:p.P25N G T . . OLD_CLUMPED=chr17:41276041:GG/TT;CSQ=T|ENSG00000012048|ENST00000354071|Transcript|stop_gained|304|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.72T>A|ENSP00000326002.6:p.Cys24Ter|||||||||||||||POSITION:0.0150093808630393996|HC||,T|ENSG00000012048|ENST00000461798|Transcript|stop_gained&NMD_transcript_variant|185|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.72T>A|ENSP00000417988.1:p.Cys24Ter||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|stop_gained|174|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.72T>A|ENSP00000420412.1:p.Cys24Ter|||||||||||||||POSITION:0.0385026737967914439|HC||,T|ENSG00000012048|ENST00000476777|Transcript|stop_gained|174|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.72T>A|ENSP00000417554.1:p.Cys24Ter|||||||||||||||POSITION:0.107946026986506747|HC||,T|ENSG00000012048|ENST00000468300|Transcript|stop_gained|266|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.72T>A|ENSP00000417148.1:p.Cys24Ter|||||||||||||||POSITION:0.0342857142857142857|HC||,T|ENSG00000012048|ENST00000346315|Transcript|stop_gained|266|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.72T>A|ENSP00000246907.4:p.Cys24Ter|||||||||||||||POSITION:0.0147692307692307692|HC||,T|ENSG00000012048|ENST00000470026|Transcript|stop_gained|233|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.72T>A|ENSP00000419274.1:p.Cys24Ter|||||||||||||||POSITION:0.0369799691833590139|HC||,T|ENSG00000012048|ENST00000477152|Transcript|stop_gained|185|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.72T>A|ENSP00000419988.1:p.Cys24Ter|||||||||||||||POSITION:0.038564542046063203|HC||,T|ENSG00000012048|ENST00000351666|Transcript|stop_gained|91|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.72T>A|ENSP00000338007.3:p.Cys24Ter|||||||||||||||POSITION:0.0352422907488986784|HC||,T|ENSG00000012048|ENST00000461221|Transcript|stop_gained&NMD_transcript_variant|198|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.72T>A|ENSP00000418548.1:p.Cys24Ter||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|stop_gained|171|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.72T>A|ENSP00000420705.2:p.Cys24Ter|||||||||||||||POSITION:0.0315789473684210526|HC||,T|ENSG00000012048|ENST00000352993|Transcript|stop_gained|304|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.72T>A|ENSP00000312236.5:p.Cys24Ter|||||||||||||||POSITION:0.0332409972299168975|HC||,T|ENSG00000012048|ENST00000357654|Transcript|stop_gained|191|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.72T>A|ENSP00000350283.3:p.Cys24Ter|||||||||||||||POSITION:0.0128755364806866953|HC||,T|ENSG00000012048|ENST00000471181|Transcript|stop_gained|304|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.72T>A|ENSP00000418960.2:p.Cys24Ter|||||||||||||||POSITION:0.0127320954907161804|HC||,T|ENSG00000012048|ENST00000489037|Transcript|stop_gained|231|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.72T>A|ENSP00000420781.1:p.Cys24Ter|||||||||||||||POSITION:0.243243243243243243|HC||,T|ENSG00000012048|ENST00000494123|Transcript|stop_gained|265|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.72T>A|ENSP00000419103.1:p.Cys24Ter|||||||||||||||POSITION:0.0507399577167019027|HC||,T|ENSG00000012048|ENST00000492859|Transcript|stop_gained&NMD_transcript_variant|121|72|24|C/*|tgC/tgA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.72T>A|ENSP00000420253.1:p.Cys24Ter||||||||||||||||||;ANN=T|stop_gained|HIGH|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.72C>A|p.Cys24*|304/7270|72/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>T|||||1558|;LOF=(BRCA1|BRCA1|1|1.00);NMD=(BRCA1|BRCA1|1|1.00) chr17 41276042 brca1:p.P25V G C . . OLD_CLUMPED=chr17:41276041:GG/AC;CSQ=C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|304|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.993)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.72T>G|ENSP00000326002.6:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|185|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.72T>G|ENSP00000417988.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|174|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.72T>G|ENSP00000417554.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|174|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.72T>G|ENSP00000420412.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|266|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.72T>G|ENSP00000417148.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|185|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.993)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.72T>G|ENSP00000419988.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|266|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.99)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.72T>G|ENSP00000246907.4:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|233|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.72T>G|ENSP00000419274.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|171|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.72T>G|ENSP00000420705.2:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|198|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.72T>G|ENSP00000418548.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|91|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.72T>G|ENSP00000338007.3:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|304|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.994)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.72T>G|ENSP00000312236.5:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|191|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.72T>G|ENSP00000350283.3:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|231|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.72T>G|ENSP00000420781.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|265|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.72T>G|ENSP00000419103.1:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|304|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.99)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.72T>G|ENSP00000418960.2:p.Cys24Trp||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|121|72|24|C/W|tgC/tgG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.892)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.72T>G|ENSP00000420253.1:p.Cys24Trp||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.72C>G|p.Cys24Trp|304/7270|72/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>C|||||1558| chr17 41276043 brca1:p.C24F C A . . CSQ=A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|303|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.977)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.71G>T|ENSP00000418960.2:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|264|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.71G>T|ENSP00000419103.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|230|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.71G>T|ENSP00000420781.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|120|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.639)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.71G>T|ENSP00000420253.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|190|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.71G>T|ENSP00000350283.3:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|90|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.71G>T|ENSP00000338007.3:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|197|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.71G>T|ENSP00000418548.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|170|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.71G>T|ENSP00000420705.2:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|303|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.71G>T|ENSP00000312236.5:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|303|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.71G>T|ENSP00000326002.6:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|184|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.71G>T|ENSP00000417988.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|173|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.71G>T|ENSP00000420412.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|173|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.71G>T|ENSP00000417554.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|265|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.71G>T|ENSP00000417148.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|265|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.919)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.71G>T|ENSP00000246907.4:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|232|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.71G>T|ENSP00000419274.1:p.Cys24Phe||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|184|71|24|C/F|tGt/tTt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.71G>T|ENSP00000419988.1:p.Cys24Phe||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.71G>T|p.Cys24Phe|303/7270|71/5655|24/1884||,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>A|||||1557| chr17 41276043 brca1:p.C24Y C T . . CSQ=T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|265|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.71G>A|ENSP00000417148.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|232|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.71G>A|ENSP00000419274.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|265|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.972)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.71G>A|ENSP00000246907.4:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|184|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.71G>A|ENSP00000419988.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|184|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.71G>A|ENSP00000417988.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|303|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.71G>A|ENSP00000326002.6:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|173|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.71G>A|ENSP00000420412.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|173|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.71G>A|ENSP00000417554.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|303|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.71G>A|ENSP00000312236.5:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|90|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.71G>A|ENSP00000338007.3:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|197|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.71G>A|ENSP00000418548.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|170|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.71G>A|ENSP00000420705.2:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|190|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.71G>A|ENSP00000350283.3:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|120|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.71G>A|ENSP00000420253.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|303|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.977)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.71G>A|ENSP00000418960.2:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|230|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.71G>A|ENSP00000420781.1:p.Cys24Tyr||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|264|71|24|C/Y|tGt/tAt|rs80357198&CM081538||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.71G>A|ENSP00000419103.1:p.Cys24Tyr||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.71G>A|p.Cys24Tyr|303/7270|71/5655|24/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>T|||||1557| chr17 41276044 brca1:p.C24A C G . . OLD_CLUMPED=chr17:41276044:CA/GC;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.70T>C|ENSP00000350283.3:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.70T>C|ENSP00000420253.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.70T>C|ENSP00000420781.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.70T>C|ENSP00000419103.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.955)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.70T>C|ENSP00000418960.2:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.70T>C|ENSP00000419988.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.70T>C|ENSP00000419274.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.919)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.70T>C|ENSP00000246907.4:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.70T>C|ENSP00000417148.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.70T>C|ENSP00000417554.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.70T>C|ENSP00000420412.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.70T>C|ENSP00000326002.6:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.70T>C|ENSP00000417988.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.70T>C|ENSP00000312236.5:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.70T>C|ENSP00000420705.2:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.70T>C|ENSP00000418548.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.70T>C|ENSP00000338007.3:p.Gly24Arg||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70G>C|p.Cys24Arg|302/7270|70/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1556| chr17 41276044 brca1:p.C24D C T . . OLD_CLUMPED=chr17:41276044:CA/TC;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.70T>A|ENSP00000350283.3:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.70T>A|ENSP00000420253.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.884)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.70T>A|ENSP00000418960.2:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.70T>A|ENSP00000419103.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.70T>A|ENSP00000420781.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.70T>A|ENSP00000419274.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.831)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.70T>A|ENSP00000246907.4:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.70T>A|ENSP00000419988.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.70T>A|ENSP00000417148.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.70T>A|ENSP00000420412.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.70T>A|ENSP00000417554.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.70T>A|ENSP00000326002.6:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.70T>A|ENSP00000417988.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.70T>A|ENSP00000312236.5:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.70T>A|ENSP00000418548.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.70T>A|ENSP00000338007.3:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.70T>A|ENSP00000420705.2:p.Gly24Ser||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70G>A|p.Cys24Ser|302/7270|70/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>T|||||1556| chr17 41276044 brca1:p.C24G A C . . CSQ=C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.537)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.70T>G|ENSP00000420253.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.956)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.70T>G|ENSP00000418960.2:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.70T>G|ENSP00000419103.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.70T>G|ENSP00000420781.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.70T>G|ENSP00000350283.3:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.70T>G|ENSP00000312236.5:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.70T>G|ENSP00000418548.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.70T>G|ENSP00000338007.3:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.70T>G|ENSP00000420705.2:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.70T>G|ENSP00000417148.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.70T>G|ENSP00000419274.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.905)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.70T>G|ENSP00000246907.4:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.70T>G|ENSP00000419988.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.70T>G|ENSP00000417988.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.70T>G|ENSP00000326002.6:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.70T>G|ENSP00000420412.1:p.Cys24Gly||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|C/G|Tgt/Ggt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.70T>G|ENSP00000417554.1:p.Cys24Gly||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70T>G|p.Cys24Gly|302/7270|70/5655|24/1884||,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1556| chr17 41276044 brca1:p.C24H C T . . OLD_CLUMPED=chr17:41276044:CA/TG;CSQ=T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.70T>A|ENSP00000338007.3:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.70T>A|ENSP00000418548.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.70T>A|ENSP00000420705.2:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.70T>A|ENSP00000312236.5:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.70T>A|ENSP00000420412.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.70T>A|ENSP00000417554.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.70T>A|ENSP00000326002.6:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.70T>A|ENSP00000417988.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.70T>A|ENSP00000419274.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.831)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.70T>A|ENSP00000246907.4:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.70T>A|ENSP00000419988.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.70T>A|ENSP00000417148.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.884)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.70T>A|ENSP00000418960.2:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.70T>A|ENSP00000420781.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.70T>A|ENSP00000419103.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.70T>A|ENSP00000420253.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.70T>A|ENSP00000350283.3:p.Gly24Ser||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70G>A|p.Cys24Ser|302/7270|70/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>T|||||1556| chr17 41276044 brca1:p.C24I C A . . OLD_CLUMPED=chr17:41276044:CA/AT;CSQ=A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly24Cys||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70G>T|p.Cys24Cys|302/7270|70/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>A|||||1556| chr17 41276044 brca1:p.C24N C T . . OLD_CLUMPED=chr17:41276044:CA/TT;CSQ=T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.884)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.70T>A|ENSP00000418960.2:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.70T>A|ENSP00000420781.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.70T>A|ENSP00000419103.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.415)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.70T>A|ENSP00000420253.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.70T>A|ENSP00000350283.3:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.70T>A|ENSP00000338007.3:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.70T>A|ENSP00000418548.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.70T>A|ENSP00000420705.2:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.974)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.70T>A|ENSP00000312236.5:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.70T>A|ENSP00000326002.6:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.70T>A|ENSP00000417988.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.70T>A|ENSP00000420412.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.70T>A|ENSP00000417554.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.70T>A|ENSP00000417148.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.70T>A|ENSP00000419274.1:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.831)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.70T>A|ENSP00000246907.4:p.Gly24Ser||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|G/S|Ggt/Agt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.966)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.70T>A|ENSP00000419988.1:p.Gly24Ser||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70G>A|p.Cys24Ser|302/7270|70/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>T|||||1556| chr17 41276044 brca1:p.C24R A G . . CSQ=G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.70T>C|ENSP00000417148.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.70T>C|ENSP00000419988.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.70T>C|ENSP00000419274.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.919)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.70T>C|ENSP00000246907.4:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.70T>C|ENSP00000326002.6:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.70T>C|ENSP00000417988.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.70T>C|ENSP00000417554.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.70T>C|ENSP00000420412.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.70T>C|ENSP00000312236.5:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.70T>C|ENSP00000420705.2:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.70T>C|ENSP00000418548.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.70T>C|ENSP00000338007.3:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.70T>C|ENSP00000350283.3:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.70T>C|ENSP00000420253.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.70T>C|ENSP00000420781.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.70T>C|ENSP00000419103.1:p.Cys24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|C/R|Tgt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.955)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.70T>C|ENSP00000418960.2:p.Cys24Arg||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70T>C|p.Cys24Arg|302/7270|70/5655|24/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1556| chr17 41276044 brca1:p.C24T C G . . OLD_CLUMPED=chr17:41276044:CA/GT;CSQ=G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|possibly_damaging(0.712)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.70T>C|ENSP00000420253.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000494123.1:c.70T>C|ENSP00000419103.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.70T>C|ENSP00000420781.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.955)|2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.70T>C|ENSP00000418960.2:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.70T>C|ENSP00000350283.3:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.992)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.70T>C|ENSP00000312236.5:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.70T>C|ENSP00000420705.2:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.70T>C|ENSP00000338007.3:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461221.1:c.70T>C|ENSP00000418548.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.70T>C|ENSP00000419988.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(1)|2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000470026.1:c.70T>C|ENSP00000419274.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.919)|2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.70T>C|ENSP00000246907.4:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(1)|2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.70T>C|ENSP00000417148.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(1)|2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000476777.1:c.70T>C|ENSP00000417554.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850|ENST00000478531.1:c.70T>C|ENSP00000420412.1:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.70T>C|ENSP00000326002.6:p.Gly24Arg||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|G/R|Ggt/Cgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(1)|2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850|ENST00000461798.1:c.70T>C|ENSP00000417988.1:p.Gly24Arg||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70G>C|p.Cys24Arg|302/7270|70/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1556| chr17 41276044 brca1:p.C24V C A . . OLD_CLUMPED=chr17:41276044:CA/AC;CSQ=A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|183|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|231|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|264|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|264|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|172|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|172|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|183|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|302|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|302|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|169|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|196|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|89|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|189|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|119|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|263|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF00097&Pfam_domain:PF11789&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|229|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Gly24Cys||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|302|70|24|G/C|Ggt/Tgt|rs80357410||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Pfam_domain:PF00097&PROSITE_profiles:PS50089&SMART_domains:SM00184&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Gly24Cys||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.70G>T|p.Cys24Cys|302/7270|70/5655|24/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>A|||||1556| chr17 41276045 brca1:p.C24A A C . . OLD_CLUMPED=chr17:41276044:CA/GC;CSQ=C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|118|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|228|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|262|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|188|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|88|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|195|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|168|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|263|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|263|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|230|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|182|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|182|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|171|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|171|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asp23Glu||||||||||||||||||;ExAC_AC_AMR=0;ExAC_AN_AFR=9054;ExAC_AN_AMR=11192;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AFR=0;ExAC_AN_OTH=692;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AN_FIN=6606;ExAC_AC_Hom=0;ExAC=17:41276045-41276045;ExAC_AN_SAS=16382;ExAC_AC_Het=1;ExAC_AN_Adj=105882;ExAC_AF=9.420e-06,9.420e-06;ExAC_AN_EAS=7866;ExAC_AN=106158;ExAC_AC_Adj=1;ExAC_AC_SAS=1;ExAC_AC_EAS=0;ExAC_AN_NFE=54090;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.69T>G|p.Glu23Glu|301/7270|69/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1555| chr17 41276045 brca1:p.C24D A C . . OLD_CLUMPED=chr17:41276044:CA/TC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|188|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|118|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|228|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|262|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|263|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|230|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|263|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|182|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|182|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|171|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|171|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|88|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|195|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|168|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asp23Glu||||||||||||||||||;ExAC_AN_Adj=105882;ExAC_AC_Het=1;ExAC_AN_SAS=16382;ExAC_AC_Hom=0;ExAC=17:41276045-41276045;ExAC_AN_NFE=54090;ExAC_AC_EAS=0;ExAC_AC_SAS=1;ExAC_AC_Adj=1;ExAC_AN=106158;ExAC_AN_EAS=7866;ExAC_AF=9.420e-06,9.420e-06;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN_AMR=11192;ExAC_AN_AFR=9054;ExAC_AC_AMR=0;ExAC_AN_FIN=6606;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AN_OTH=692;ExAC_AC_AFR=0;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.69T>G|p.Glu23Glu|301/7270|69/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1555| chr17 41276045 brca1:p.C24H A G . . OLD_CLUMPED=chr17:41276044:CA/TG;CSQ=G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|118|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.69G>C|ENST00000492859.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|301|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.69G>C|ENST00000471181.2:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|228|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.69G>C|ENST00000489037.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|262|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.69G>C|ENST00000494123.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|188|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.69G>C|ENST00000357654.3:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|301|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.69G>C|ENST00000352993.3:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|88|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.69G>C|ENST00000351666.3:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|195|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.69G>C|ENST00000461221.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|168|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.69G>C|ENST00000491747.2:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|263|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.69G>C|ENST00000346315.3:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|230|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.69G>C|ENST00000470026.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|182|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.69G>C|ENST00000477152.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|263|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.69G>C|ENST00000468300.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|171|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.69G>C|ENST00000478531.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|171|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.69G>C|ENST00000476777.1:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|301|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.69G>C|ENST00000354071.3:c.69G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|182|69|23|D|gaT/gaC|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.69G>C|ENST00000461798.1:c.69G>C(p.%3D)||||||||||||||||||;ExAC_AC_AMR=0;ExAC_AN_AMR=11192;ExAC_AN_AFR=9054;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN_OTH=692;ExAC_AC_AFR=0;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AN_FIN=6606;ExAC_AC_Hom=0;ExAC=17:41276045-41276045;ExAC_AC_Het=1;ExAC_AN_SAS=16382;ExAC_AN_Adj=105882;ExAC_AF=9.420e-06,9.420e-06;ExAC_AN=106158;ExAC_AN_EAS=7866;ExAC_AC_Adj=1;ExAC_AN_NFE=54090;ExAC_AC_EAS=0;ExAC_AC_SAS=1;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.69T>C|p.Glu23Asp|301/7270|69/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1555| chr17 41276045 brca1:p.C24I A T . . OLD_CLUMPED=chr17:41276044:CA/AT;CSQ=T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.69G>A|ENSP00000326002.6:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|182|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.69G>A|ENSP00000417988.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|171|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.69G>A|ENSP00000420412.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|171|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.69G>A|ENSP00000417554.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|263|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.69G>A|ENSP00000417148.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|230|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.69G>A|ENSP00000419274.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|263|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.69G>A|ENSP00000246907.4:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|182|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.69G>A|ENSP00000419988.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|88|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.69G>A|ENSP00000338007.3:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|195|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.69G>A|ENSP00000418548.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|168|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.69G>A|ENSP00000420705.2:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.69G>A|ENSP00000312236.5:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|188|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.69G>A|ENSP00000350283.3:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.69G>A|ENSP00000418960.2:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|262|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.69G>A|ENSP00000419103.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|228|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.69G>A|ENSP00000420781.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|118|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.69G>A|ENSP00000420253.1:p.Asp23Glu||||||||||||||||||;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AMR=0;ExAC_AN_AFR=9054;ExAC_AN_AMR=11192;ExAC_AN_FIN=6606;ExAC_AN_OTH=692;ExAC_AC_AFR=0;ExAC_AC_NFE=0;ExAC_AC=1;ExAC_AC_Het=1;ExAC_AN_SAS=16382;ExAC_AN_Adj=105882;ExAC=17:41276045-41276045;ExAC_AC_Hom=0;ExAC_AC_Adj=1;ExAC_AC_SAS=1;ExAC_AC_EAS=0;ExAC_AN_NFE=54090;ExAC_AF=9.420e-06,9.420e-06;ExAC_AN_EAS=7866;ExAC_AN=106158;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.69T>A|p.Glu23Glu|301/7270|69/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1555| chr17 41276045 brca1:p.C24N A T . . OLD_CLUMPED=chr17:41276044:CA/TT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|188|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.69G>A|ENSP00000350283.3:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|118|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.69G>A|ENSP00000420253.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.69G>A|ENSP00000418960.2:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|228|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.69G>A|ENSP00000420781.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|262|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.69G>A|ENSP00000419103.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|263|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.69G>A|ENSP00000417148.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|230|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.69G>A|ENSP00000419274.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|263|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.69G>A|ENSP00000246907.4:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|182|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.69G>A|ENSP00000419988.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|182|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.69G>A|ENSP00000417988.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.69G>A|ENSP00000326002.6:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|171|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.69G>A|ENSP00000420412.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|171|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.69G>A|ENSP00000417554.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.69G>A|ENSP00000312236.5:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|195|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.69G>A|ENSP00000418548.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|88|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.69G>A|ENSP00000338007.3:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|168|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.69G>A|ENSP00000420705.2:p.Asp23Glu||||||||||||||||||;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AN_AFR=9054;ExAC_AN_AMR=11192;ExAC_AC_AMR=0;ExAC_AN_FIN=6606;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AC_AFR=0;ExAC_AN_OTH=692;ExAC_AN_Adj=105882;ExAC_AC_Het=1;ExAC_AN_SAS=16382;ExAC_AC_Hom=0;ExAC=17:41276045-41276045;ExAC_AC_EAS=0;ExAC_AC_SAS=1;ExAC_AN_NFE=54090;ExAC_AC_Adj=1;ExAC_AN_EAS=7866;ExAC_AN=106158;ExAC_AF=9.420e-06,9.420e-06;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.69T>A|p.Glu23Glu|301/7270|69/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1555| chr17 41276045 brca1:p.C24T A T . . OLD_CLUMPED=chr17:41276044:CA/GT;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|168|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.69G>A|ENSP00000420705.2:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|88|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.69G>A|ENSP00000338007.3:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|195|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.69G>A|ENSP00000418548.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.69G>A|ENSP00000312236.5:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|171|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.69G>A|ENSP00000417554.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|171|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.69G>A|ENSP00000420412.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.69G>A|ENSP00000326002.6:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|182|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.69G>A|ENSP00000417988.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|182|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.69G>A|ENSP00000419988.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|230|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.69G>A|ENSP00000419274.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|263|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.69G>A|ENSP00000246907.4:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|263|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.69G>A|ENSP00000417148.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|228|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.69G>A|ENSP00000420781.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|262|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.69G>A|ENSP00000419103.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|301|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.69G>A|ENSP00000418960.2:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|118|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.69G>A|ENSP00000420253.1:p.Asp23Glu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|188|69|23|D/E|gaT/gaA|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.69G>A|ENSP00000350283.3:p.Asp23Glu||||||||||||||||||;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AMR=0;ExAC_AN_AFR=9054;ExAC_AN_AMR=11192;ExAC_AN_FIN=6606;ExAC_AC_AFR=0;ExAC_AN_OTH=692;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AC_Het=1;ExAC_AN_SAS=16382;ExAC_AN_Adj=105882;ExAC_AC_Hom=0;ExAC=17:41276045-41276045;ExAC_AC_Adj=1;ExAC_AC_SAS=1;ExAC_AC_EAS=0;ExAC_AN_NFE=54090;ExAC_AF=9.420e-06,9.420e-06;ExAC_AN_EAS=7866;ExAC_AN=106158;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.69T>A|p.Glu23Glu|301/7270|69/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1555| chr17 41276045 brca1:p.C24V A C . . OLD_CLUMPED=chr17:41276044:CA/AC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|188|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|228|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|262|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000419103.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|118|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|182|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|171|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420412.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|171|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|263|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|263|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|230|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000419274.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|182|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|195|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|88|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|168|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Asp23Glu||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|301|69|23|D/E|gaT/gaG|CD951600||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Asp23Glu||||||||||||||||||;ExAC_AC_AMR=0;ExAC_AN_AMR=11192;ExAC_AN_AFR=9054;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN_OTH=692;ExAC_AC_AFR=0;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AN_FIN=6606;ExAC=17:41276045-41276045;ExAC_AC_Hom=0;ExAC_AN_SAS=16382;ExAC_AC_Het=1;ExAC_AN_Adj=105882;ExAC_AF=9.420e-06,9.420e-06;ExAC_AN=106158;ExAC_AN_EAS=7866;ExAC_AC_Adj=1;ExAC_AN_NFE=54090;ExAC_AC_SAS=1;ExAC_AC_EAS=0;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.69T>G|p.Glu23Glu|301/7270|69/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1555| chr17 41276047 brca1:p.E23P T G . . OLD_CLUMPED=chr17:41276047:TC/GG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|186|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.67G>C|ENSP00000350283.3:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|299|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.967)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.67G>C|ENSP00000418960.2:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|260|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.67G>C|ENSP00000419103.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|226|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.37)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.67G>C|ENSP00000420781.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|116|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.2)|benign(0.403)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.67G>C|ENSP00000420253.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|180|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.37)|probably_damaging(0.998)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.67G>C|ENSP00000417988.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|299|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.67G>C|ENSP00000326002.6:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|169|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.67G>C|ENSP00000420412.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|169|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.24)|probably_damaging(0.971)|2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.67G>C|ENSP00000417554.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|261|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.21)|probably_damaging(0.954)|2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.67G>C|ENSP00000417148.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|261|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.96)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.67G>C|ENSP00000246907.4:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|228|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.67G>C|ENSP00000419274.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|180|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.07)|probably_damaging(0.932)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.67G>C|ENSP00000419988.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|86|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.26)|unknown(0)|1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.67G>C|ENSP00000338007.3:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|193|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.37)|probably_damaging(0.998)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.67G>C|ENSP00000418548.1:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|166|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.998)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.67G>C|ENSP00000420705.2:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|299|67|23|K/Q|Aag/Cag|rs372047427&COSM436670||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.25)|benign(0.363)|2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.67G>C|ENSP00000312236.5:p.Lys23Gln||||||G:0|G:0.000116||0&1|||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.67A>C|p.Glu23Gln|299/7270|67/5655|23/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1553| chr17 41276048 brca1:p.E23P C G . . OLD_CLUMPED=chr17:41276047:TC/GG;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|298|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.661)|2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.66A>C|ENSP00000312236.5:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|165|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.96)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.66A>C|ENSP00000420705.2:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|85|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.66A>C|ENSP00000338007.3:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|192|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.999)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.66A>C|ENSP00000418548.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|179|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.969)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.66A>C|ENSP00000419988.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|227|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.66A>C|ENSP00000419274.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|260|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.973)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.66A>C|ENSP00000246907.4:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|260|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.986)|2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.66A>C|ENSP00000417148.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|168|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.999)|2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.66A>C|ENSP00000417554.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|168|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.66A>C|ENSP00000420412.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|298|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.994)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.66A>C|ENSP00000326002.6:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|179|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.999)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.66A>C|ENSP00000417988.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|115|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|possibly_damaging(0.587)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.66A>C|ENSP00000420253.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|225|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(1)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.66A>C|ENSP00000420781.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|259|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.66A>C|ENSP00000419103.1:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|298|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.974)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.66A>C|ENSP00000418960.2:p.Leu22Phe||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|185|66|22|L/F|ttG/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.66A>C|ENSP00000350283.3:p.Leu22Phe||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.66G>C|p.Leu22Phe|298/7270|66/5655|22/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1552| chr17 41276050 brca1:p.L22E A T . . OLD_CLUMPED=chr17:41276050:AA/TC;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|163|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.64T>A|ENSP00000420705.2:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|83|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.64T>A|ENSP00000338007.3:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|190|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.997)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.64T>A|ENSP00000418548.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.946)|2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.64T>A|ENSP00000312236.5:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.64T>A|ENSP00000326002.6:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|177|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.997)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.64T>A|ENSP00000417988.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|166|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.997)|2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.64T>A|ENSP00000417554.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|166|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.64T>A|ENSP00000420412.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|258|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.997)|2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.64T>A|ENSP00000417148.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|177|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|possibly_damaging(0.899)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.64T>A|ENSP00000419988.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|225|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.64T>A|ENSP00000419274.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|258|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.381)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.64T>A|ENSP00000246907.4:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|223|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|probably_damaging(0.999)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.64T>A|ENSP00000420781.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|257|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.64T>A|ENSP00000419103.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.536)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.64T>A|ENSP00000418960.2:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|113|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.364)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.64T>A|ENSP00000420253.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|183|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.64T>A|ENSP00000350283.3:p.Leu22Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.64T>A|p.Leu22Ile|296/7270|64/5655|22/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1550| chr17 41276050 brca1:p.L22K A T . . OLD_CLUMPED=chr17:41276050:AA/TT;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.946)|2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.64T>A|ENSP00000312236.5:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|163|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.64T>A|ENSP00000420705.2:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|83|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.64T>A|ENSP00000338007.3:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|190|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.997)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.64T>A|ENSP00000418548.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|177|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|possibly_damaging(0.899)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.64T>A|ENSP00000419988.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|225|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.64T>A|ENSP00000419274.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|258|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.381)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.64T>A|ENSP00000246907.4:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|258|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.997)|2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.64T>A|ENSP00000417148.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|166|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.997)|2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.64T>A|ENSP00000417554.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|166|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.64T>A|ENSP00000420412.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.64T>A|ENSP00000326002.6:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|177|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.997)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.64T>A|ENSP00000417988.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|113|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.364)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.64T>A|ENSP00000420253.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|223|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|probably_damaging(0.999)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.64T>A|ENSP00000420781.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|257|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.64T>A|ENSP00000419103.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.536)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.64T>A|ENSP00000418960.2:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|183|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.64T>A|ENSP00000350283.3:p.Leu22Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.64T>A|p.Leu22Ile|296/7270|64/5655|22/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1550| chr17 41276050 brca1:p.L22P A G . . OLD_CLUMPED=chr17:41276050:AA/GG;CSQ=G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|258|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.64T>C|ENST00000468300.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|225|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.64T>C|ENST00000470026.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|258|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.64T>C|ENST00000346315.3:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|177|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.64T>C|ENST00000477152.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|296|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.64T>C|ENST00000354071.3:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|177|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.64T>C|ENST00000461798.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|166|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.64T>C|ENST00000478531.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|166|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.64T>C|ENST00000476777.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|296|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.64T>C|ENST00000352993.3:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|83|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.64T>C|ENST00000351666.3:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|190|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.64T>C|ENST00000461221.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|163|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.64T>C|ENST00000491747.2:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|183|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.64T>C|ENST00000357654.3:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|113|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.64T>C|ENST00000492859.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|296|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.64T>C|ENST00000471181.2:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|223|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.64T>C|ENST00000489037.1:c.64T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|257|64|22|L|Tta/Cta|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.64T>C|ENST00000494123.1:c.64T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.64T>C|p.Leu22Leu|296/7270|64/5655|22/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1550| chr17 41276050 brca1:p.L22Q A T . . OLD_CLUMPED=chr17:41276050:AA/TG;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|183|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.64T>A|ENSP00000350283.3:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|257|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.64T>A|ENSP00000419103.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|223|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|probably_damaging(0.999)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.64T>A|ENSP00000420781.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.536)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.64T>A|ENSP00000418960.2:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|113|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.364)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.64T>A|ENSP00000420253.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.978)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.64T>A|ENSP00000326002.6:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|177|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.997)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.64T>A|ENSP00000417988.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|166|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.997)|2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.64T>A|ENSP00000417554.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|166|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.64T>A|ENSP00000420412.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|258|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.997)|2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.64T>A|ENSP00000417148.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|177|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|possibly_damaging(0.899)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.64T>A|ENSP00000419988.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|258|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.381)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.64T>A|ENSP00000246907.4:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|225|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.64T>A|ENSP00000419274.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|163|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.64T>A|ENSP00000420705.2:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|83|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.64T>A|ENSP00000338007.3:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|190|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.997)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.64T>A|ENSP00000418548.1:p.Leu22Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|296|64|22|L/I|Tta/Ata|rs80357803||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.946)|2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.64T>A|ENSP00000312236.5:p.Leu22Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.64T>A|p.Leu22Ile|296/7270|64/5655|22/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1550| chr17 41276051 brca1:p.L22E A C . . OLD_CLUMPED=chr17:41276050:AA/TC;CSQ=C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|82|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.06)|unknown(0)|1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.63C>G|ENSP00000338007.3:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|189|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.06)|probably_damaging(0.999)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.63C>G|ENSP00000418548.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|162|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.23)|probably_damaging(0.963)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.63C>G|ENSP00000420705.2:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|295|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.06)|probably_damaging(0.909)|2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.63C>G|ENSP00000312236.5:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|295|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.02)|possibly_damaging(0.858)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.63C>G|ENSP00000326002.6:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|176|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.06)|probably_damaging(0.999)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.63C>G|ENSP00000417988.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|165|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.22)||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.63C>G|ENSP00000420412.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|165|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.05)|possibly_damaging(0.872)|2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.63C>G|ENSP00000417554.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|257|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.06)|probably_damaging(0.978)|2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.63C>G|ENSP00000417148.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|257|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.04)|probably_damaging(0.972)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.63C>G|ENSP00000246907.4:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|224|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.03)|probably_damaging(0.999)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.63C>G|ENSP00000419274.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|176|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.03)|probably_damaging(0.924)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.63C>G|ENSP00000419988.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|295|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.02)|probably_damaging(0.947)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.63C>G|ENSP00000418960.2:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|222|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.05)|possibly_damaging(0.889)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.63C>G|ENSP00000420781.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|256|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.04)|probably_damaging(0.999)|2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.63C>G|ENSP00000419103.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|112|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.04)|benign(0.308)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.63C>G|ENSP00000420253.1:p.Ile21Met||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|182|63|21|I/M|atT/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.63C>G|ENSP00000350283.3:p.Ile21Met||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.63T>G|p.Ile21Met|295/7270|63/5655|21/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1549| chr17 41276051 brca1:p.L22K A T . . OLD_CLUMPED=chr17:41276050:AA/TT;CSQ=T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|162|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.63C>A|ENST00000491747.2:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|82|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.63C>A|ENST00000351666.3:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|189|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.63C>A|ENST00000461221.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|295|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.63C>A|ENST00000352993.3:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|165|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.63C>A|ENST00000476777.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|165|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000478531.1:c.63C>A|ENST00000478531.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|295|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.63C>A|ENST00000354071.3:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|176|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.63C>A|ENST00000461798.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|176|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.63C>A|ENST00000477152.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|224|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000470026.1:c.63C>A|ENST00000470026.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|257|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.63C>A|ENST00000346315.3:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|257|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.63C>A|ENST00000468300.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|222|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.63C>A|ENST00000489037.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|256|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000494123.1:c.63C>A|ENST00000494123.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|295|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.63C>A|ENST00000471181.2:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|112|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.63C>A|ENST00000492859.1:c.63C>A(p.%3D)||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|182|63|21|I|atT/atA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.63C>A|ENST00000357654.3:c.63C>A(p.%3D)||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.63T>A|p.Ile21Ile|295/7270|63/5655|21/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1549| chr17 41276051 brca1:p.L22P A G . . OLD_CLUMPED=chr17:41276050:AA/GG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|182|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|112|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|295|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|222|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|256|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|257|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|224|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|257|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|176|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|176|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|295|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|165|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|165|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|295|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|82|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|189|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|162|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.63T>C|p.Ile21Ile|295/7270|63/5655|21/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1549| chr17 41276051 brca1:p.L22Q A G . . OLD_CLUMPED=chr17:41276050:AA/TG;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|295|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|162|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|82|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Pfam_domain:PF11789&Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|189|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|176|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|224|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|257|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|257|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||Pfam_domain:PF11789&PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|165|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|165|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|295|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|176|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|112|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|222|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|256|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Pfam_domain:PF11789&Superfamily_domains:SSF57850||||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|295|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|182|63|21|I|atT/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.63T>C|p.Ile21Ile|295/7270|63/5655|21/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1549| chr17 41276058 brca1:p.Q19P T G . . CSQ=G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|75|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.14)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.56A>C|ENSP00000338007.3:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|182|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.05)|probably_damaging(0.998)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.56A>C|ENSP00000418548.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|155|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.56A>C|ENSP00000420705.2:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|288|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.12)|possibly_damaging(0.825)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.56A>C|ENSP00000312236.5:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|169|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.05)|probably_damaging(0.998)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.56A>C|ENSP00000417988.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|288|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.98)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.56A>C|ENSP00000326002.6:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|158|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.56A>C|ENSP00000420412.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|158|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.06)|probably_damaging(0.992)|2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000476777.1:c.56A>C|ENSP00000417554.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|250|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.09)|probably_damaging(0.99)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.56A>C|ENSP00000417148.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|217|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.56A>C|ENSP00000419274.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|250|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.854)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.56A>C|ENSP00000246907.4:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|169|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|possibly_damaging(0.84)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.56A>C|ENSP00000419988.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|288|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.93)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.56A>C|ENSP00000418960.2:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|215|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.06)|probably_damaging(0.998)|2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000489037.1:c.56A>C|ENSP00000420781.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|249|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.56A>C|ENSP00000419103.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|105|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.03)|benign(0.153)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.56A>C|ENSP00000420253.1:p.Gln19Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|175|56|19|Q/P|cAg/cCg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.56A>C|ENSP00000350283.3:p.Gln19Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.56A>C|p.Gln19Pro|288/7270|56/5655|19/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1542| chr17 41276059 brca1:p.Q19A T G . . OLD_CLUMPED=chr17:41276059:TG/GC;CSQ=G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|74|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|181|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|154|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|287|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|168|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|287|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|157|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|157|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|249|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|216|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|249|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|168|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|287|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|214|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|248|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|104|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Lys19Gln||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|174|55|19|K/Q|Aag/Cag|rs397509299&CM081536||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys19Gln||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.55A>C|p.Gln19Gln|287/7270|55/5655|19/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1541| chr17 41276060 brca1:p.Q19A G C . . OLD_CLUMPED=chr17:41276059:TG/GC;CSQ=C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|167|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|215|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|248|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|248|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|156|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|156|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|286|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|167|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|286|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|153|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|180|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|73|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|173|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|103|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|247|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|213|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Ile18Met||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|286|54|18|I/M|atC/atG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Ile18Met||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.54C>G|p.Met18Met|286/7270|54/5655|18/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>C|||||1540| chr17 41276061 brca1:p.M18K A T . . CSQ=T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|285|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.923)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.53T>A|ENSP00000326002.6:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|166|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.996)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.53T>A|ENSP00000417988.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|155|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.53T>A|ENSP00000420412.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|155|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.956)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.53T>A|ENSP00000417554.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|247|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.946)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.53T>A|ENSP00000417148.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|247|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.351)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.53T>A|ENSP00000246907.4:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|214|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.53T>A|ENSP00000419274.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|166|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.04)|possibly_damaging(0.599)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.53T>A|ENSP00000419988.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|72|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.53T>A|ENSP00000338007.3:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|179|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.996)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.53T>A|ENSP00000418548.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|152|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.994)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.53T>A|ENSP00000420705.2:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|285|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.743)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.53T>A|ENSP00000312236.5:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|172|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.53T>A|ENSP00000350283.3:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|285|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.866)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.53T>A|ENSP00000418960.2:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|212|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.06)|possibly_damaging(0.882)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.53T>A|ENSP00000420781.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|246|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.53T>A|ENSP00000419103.1:p.Met18Lys||||||||likely||pathogenic||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|102|53|18|M/K|aTg/aAg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.042)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.53T>A|ENSP00000420253.1:p.Met18Lys||||||||likely||pathogenic||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.53T>A|p.Met18Lys|285/7270|53/5655|18/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1539| chr17 41276061 brca1:p.M18R A C . . CSQ=C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|214|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.997)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.53T>G|ENSP00000419274.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|247|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.535)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.53T>G|ENSP00000246907.4:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|166|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.04)|possibly_damaging(0.599)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.53T>G|ENSP00000419988.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|247|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.963)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.53T>G|ENSP00000417148.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|155|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.53T>G|ENSP00000420412.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|155|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.97)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.53T>G|ENSP00000417554.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|285|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.944)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.53T>G|ENSP00000326002.6:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|166|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.997)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.53T>G|ENSP00000417988.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|285|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.825)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.53T>G|ENSP00000312236.5:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|72|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.53T>G|ENSP00000338007.3:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|179|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.997)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.53T>G|ENSP00000418548.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|152|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.994)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.53T>G|ENSP00000420705.2:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|172|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.997)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.53T>G|ENSP00000350283.3:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|102|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.042)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.53T>G|ENSP00000420253.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|285|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.931)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.53T>G|ENSP00000418960.2:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|212|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.07)|probably_damaging(0.925)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.53T>G|ENSP00000420781.1:p.Met18Arg||||||||likely||pathogenic||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|246|53|18|M/R|aTg/aGg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.997)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.53T>G|ENSP00000419103.1:p.Met18Arg||||||||likely||pathogenic||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.53T>G|p.Met18Arg|285/7270|53/5655|18/1884||,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1539| chr17 41276061 brca1:p.M18T A G . . CSQ=G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|102|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.042)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.53T>C|ENSP00000420253.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|285|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.866)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.53T>C|ENSP00000418960.2:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|212|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|possibly_damaging(0.842)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.53T>C|ENSP00000420781.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|246|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.53T>C|ENSP00000419103.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|172|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.53T>C|ENSP00000350283.3:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|285|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.743)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.53T>C|ENSP00000312236.5:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|72|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.53T>C|ENSP00000338007.3:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|179|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.996)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.53T>C|ENSP00000418548.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|152|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.991)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.53T>C|ENSP00000420705.2:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|247|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.914)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.53T>C|ENSP00000417148.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|214|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.53T>C|ENSP00000419274.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|247|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.351)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.53T>C|ENSP00000246907.4:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|166|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|possibly_damaging(0.599)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.53T>C|ENSP00000419988.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|285|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.888)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.53T>C|ENSP00000326002.6:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|166|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.996)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.53T>C|ENSP00000417988.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|155|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.53T>C|ENSP00000420412.1:p.Met18Thr||||||||likely||pathogenic||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|155|53|18|M/T|aTg/aCg|rs80356929&CM004187&CM012906||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.98)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.53T>C|ENSP00000417554.1:p.Met18Thr||||||||likely||pathogenic||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.53T>C|p.Met18Thr|285/7270|53/5655|18/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1539| chr17 41276062 brca1:p.M18E A T . . OLD_CLUMPED=chr17:41276062:AT/TC;CSQ=T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|246|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|165|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|213|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|246|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|284|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|165|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|154|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|154|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|284|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|151|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|178|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|71|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|171|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|101|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|211|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|245|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|284|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Leu18Met||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.52T>A|p.Met18Met|284/7270|52/5655|18/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1538| chr17 41276062 brca1:p.M18G A C . . OLD_CLUMPED=chr17:41276062:AT/CC;CSQ=C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|245|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.986)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.52A>G|ENSP00000419103.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|211|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.02)|possibly_damaging(0.47)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.52A>G|ENSP00000420781.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|284|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.488)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.52A>G|ENSP00000418960.2:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|101|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.019)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.52A>G|ENSP00000420253.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|171|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.986)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.52A>G|ENSP00000350283.3:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|151|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.958)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.52A>G|ENSP00000420705.2:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|71|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.52A>G|ENSP00000338007.3:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|178|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.986)|2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.52A>G|ENSP00000418548.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|284|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|possibly_damaging(0.535)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.52A>G|ENSP00000312236.5:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|154|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.609)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.52A>G|ENSP00000417554.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|154|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.52A>G|ENSP00000420412.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|165|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.986)|2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.52A>G|ENSP00000417988.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|284|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.828)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.52A>G|ENSP00000326002.6:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|165|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.267)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.52A>G|ENSP00000419988.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|213|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.986)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.52A>G|ENSP00000419274.1:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|246|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.064)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.52A>G|ENSP00000246907.4:p.Leu18Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|246|52|18|L/V|Ttg/Gtg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|possibly_damaging(0.772)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.52A>G|ENSP00000417148.1:p.Leu18Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.52T>G|p.Met18Val|284/7270|52/5655|18/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1538| chr17 41276062 brca1:p.M18P A G . . OLD_CLUMPED=chr17:41276062:AT/GG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|171|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.52A>C|ENST00000357654.3:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|101|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.52A>C|ENST00000492859.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|211|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.52A>C|ENST00000489037.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|245|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.52A>C|ENST00000494123.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|284|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.52A>C|ENST00000471181.2:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|165|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.52A>C|ENST00000477152.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|213|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.52A>C|ENST00000470026.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|246|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.52A>C|ENST00000346315.3:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|246|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.52A>C|ENST00000468300.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|154|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.52A>C|ENST00000476777.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|154|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.52A>C|ENST00000478531.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|284|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.52A>C|ENST00000354071.3:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|165|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461798.1:c.52A>C|ENST00000461798.1:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|284|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.52A>C|ENST00000352993.3:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|151|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.52A>C|ENST00000491747.2:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|71|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.52A>C|ENST00000351666.3:c.52A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|178|52|18|L|Ttg/Ctg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850|ENST00000461221.1:c.52A>C|ENST00000461221.1:c.52A>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.52T>C|p.Met18Leu|284/7270|52/5655|18/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1538| chr17 41276062 brca1:p.M18Q A T . . OLD_CLUMPED=chr17:41276062:AT/TG;CSQ=T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|101|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|284|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|245|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|211|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|171|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|284|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|178|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000418548.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|71|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|151|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|246|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|213|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|246|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|165|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|284|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|165|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Pfam_domain:PF11789&Superfamily_domains:SSF57850||ENSP00000417988.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|154|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Leu18Met||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|154|52|18|L/M|Ttg/Atg|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Leu18Met||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.52T>A|p.Met18Met|284/7270|52/5655|18/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1538| chr17 41276063 brca1:p.M18E T C . . OLD_CLUMPED=chr17:41276062:AT/TC;CSQ=C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|283|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.51T>G|ENST00000352993.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|177|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.51T>G|ENST00000461221.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|70|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.51T>G|ENST00000351666.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|150|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.51T>G|ENST00000491747.2:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|245|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.51T>G|ENST00000468300.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|245|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.51T>G|ENST00000346315.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|212|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.51T>G|ENST00000470026.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|164|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.51T>G|ENST00000477152.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|283|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.51T>G|ENST00000354071.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|164|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.51T>G|ENST00000461798.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|153|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.51T>G|ENST00000478531.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|153|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.51T>G|ENST00000476777.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|100|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.51T>G|ENST00000492859.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|283|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.51T>G|ENST00000471181.2:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|210|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.51T>G|ENST00000489037.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|244|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.51T>G|ENST00000494123.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|170|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.51T>G|ENST00000357654.3:c.51T>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.51A>G|p.Ala17Ala|283/7270|51/5655|17/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>C|||||1537| chr17 41276063 brca1:p.M18G T C . . OLD_CLUMPED=chr17:41276062:AT/CC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|170|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.51T>G|ENST00000357654.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|100|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.51T>G|ENST00000492859.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|244|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.51T>G|ENST00000494123.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|210|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.51T>G|ENST00000489037.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|283|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.51T>G|ENST00000471181.2:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|164|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.51T>G|ENST00000477152.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|245|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.51T>G|ENST00000346315.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|212|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.51T>G|ENST00000470026.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|245|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.51T>G|ENST00000468300.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|153|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.51T>G|ENST00000476777.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|153|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.51T>G|ENST00000478531.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|283|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.51T>G|ENST00000354071.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|164|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.51T>G|ENST00000461798.1:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|283|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.51T>G|ENST00000352993.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|150|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.51T>G|ENST00000491747.2:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|70|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.51T>G|ENST00000351666.3:c.51T>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|177|51|17|A|gcA/gcG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.51T>G|ENST00000461221.1:c.51T>G(p.%3D)||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.51A>G|p.Ala17Ala|283/7270|51/5655|17/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>C|||||1537| chr17 41276063 brca1:p.M18P T G . . OLD_CLUMPED=chr17:41276062:AT/GG;CSQ=G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|150|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.51T>C|ENST00000491747.2:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|177|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.51T>C|ENST00000461221.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|70|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.51T>C|ENST00000351666.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|283|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.51T>C|ENST00000352993.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|283|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.51T>C|ENST00000354071.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|164|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.51T>C|ENST00000461798.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|153|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.51T>C|ENST00000476777.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|153|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.51T>C|ENST00000478531.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|245|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.51T>C|ENST00000468300.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|164|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.51T>C|ENST00000477152.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|212|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.51T>C|ENST00000470026.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|245|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.51T>C|ENST00000346315.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|210|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.51T>C|ENST00000489037.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|244|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.51T>C|ENST00000494123.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|283|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.51T>C|ENST00000471181.2:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|100|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.51T>C|ENST00000492859.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|170|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.51T>C|ENST00000357654.3:c.51T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.51A>C|p.Ala17Ala|283/7270|51/5655|17/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1537| chr17 41276063 brca1:p.M18Q T G . . OLD_CLUMPED=chr17:41276062:AT/TG;CSQ=G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|70|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.51T>C|ENST00000351666.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|177|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.51T>C|ENST00000461221.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|150|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.51T>C|ENST00000491747.2:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|283|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.51T>C|ENST00000352993.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|164|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.51T>C|ENST00000461798.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|283|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.51T>C|ENST00000354071.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|153|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.51T>C|ENST00000478531.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|153|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.51T>C|ENST00000476777.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|245|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.51T>C|ENST00000468300.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|212|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.51T>C|ENST00000470026.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|245|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.51T>C|ENST00000346315.3:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|164|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.51T>C|ENST00000477152.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|283|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.51T>C|ENST00000471181.2:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|210|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.51T>C|ENST00000489037.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|244|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.51T>C|ENST00000494123.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|100|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.51T>C|ENST00000492859.1:c.51T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|170|51|17|A|gcA/gcC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.51T>C|ENST00000357654.3:c.51T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.51A>C|p.Ala17Ala|283/7270|51/5655|17/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1537| chr17 41276065 brca1:p.A17F G A . . OLD_CLUMPED=chr17:41276065:GC/AA;CSQ=A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|162|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.52)|possibly_damaging(0.882)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.49G>T|ENSP00000417988.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|281|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.403)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.49G>T|ENSP00000326002.6:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|151|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.13)|benign(0.319)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.49G>T|ENSP00000417554.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|151|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.06)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.49G>T|ENSP00000420412.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|243|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.07)|possibly_damaging(0.574)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.49G>T|ENSP00000417148.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|162|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|benign(0.073)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.49G>T|ENSP00000419988.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|210|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.882)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.49G>T|ENSP00000419274.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|243|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.285)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.49G>T|ENSP00000246907.4:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|148|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.05)|possibly_damaging(0.907)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.49G>T|ENSP00000420705.2:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|175|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.52)|possibly_damaging(0.882)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.49G>T|ENSP00000418548.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|68|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.05)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.49G>T|ENSP00000338007.3:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|281|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.26)|possibly_damaging(0.884)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.49G>T|ENSP00000312236.5:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|168|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.882)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.49G>T|ENSP00000350283.3:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|242|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.882)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.49G>T|ENSP00000419103.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|208|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.24)|possibly_damaging(0.603)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.49G>T|ENSP00000420781.1:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|281|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.169)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.49G>T|ENSP00000418960.2:p.Pro17Ser||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|98|49|17|P/S|Cct/Tct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.2)|benign(0.364)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.49G>T|ENSP00000420253.1:p.Pro17Ser||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.49C>T|p.Ala17Ser|281/7270|49/5655|17/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>A|||||1535| chr17 41276065 brca1:p.A17P C G . . CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|281|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.13)|probably_damaging(0.921)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.49G>C|ENSP00000312236.5:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|68|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.49G>C|ENSP00000338007.3:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|175|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|probably_damaging(0.943)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.49G>C|ENSP00000418548.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|148|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.05)|probably_damaging(0.988)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.49G>C|ENSP00000420705.2:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|243|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.794)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.49G>C|ENSP00000246907.4:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|210|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.943)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.49G>C|ENSP00000419274.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|162|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.289)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.49G>C|ENSP00000419988.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|243|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.07)|possibly_damaging(0.885)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.49G>C|ENSP00000417148.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|151|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.05)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.49G>C|ENSP00000420412.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|151|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.07)|possibly_damaging(0.874)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.49G>C|ENSP00000417554.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|162|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|probably_damaging(0.943)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.49G>C|ENSP00000417988.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|281|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.776)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.49G>C|ENSP00000326002.6:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|98|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.05)|possibly_damaging(0.665)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.49G>C|ENSP00000420253.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|281|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.736)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.49G>C|ENSP00000418960.2:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|208|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.07)|probably_damaging(0.936)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.49G>C|ENSP00000420781.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|242|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.943)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.49G>C|ENSP00000419103.1:p.Ala17Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|168|49|17|A/P|Gct/Cct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.943)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.49G>C|ENSP00000350283.3:p.Ala17Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.49G>C|p.Ala17Pro|281/7270|49/5655|17/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1535| chr17 41276066 brca1:p.A17F C A . . OLD_CLUMPED=chr17:41276065:GC/AA;CSQ=A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|161|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||ENSP00000417988.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|280|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|150|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|150|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|242|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|161|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|242|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|209|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|147|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|67|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|174|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||ENSP00000418548.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|280|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|167|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|241|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|207|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|280|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys16Asn||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|97|48|16|K/N|aaG/aaT|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Lys16Asn||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.48G>T|p.Asn16Asn|280/7270|48/5655|16/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>A|||||1534| chr17 41276068 brca1:p.N16P T G . . OLD_CLUMPED=chr17:41276068:TT/GG;CSQ=G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|95|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.37)|possibly_damaging(0.703)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.46A>C|ENSP00000420253.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|278|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.23)|possibly_damaging(0.717)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.46A>C|ENSP00000418960.2:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|205|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.4)|benign(0.004)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.46A>C|ENSP00000420781.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|239|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.21)|possibly_damaging(0.898)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.46A>C|ENSP00000419103.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|165|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(0.23)|possibly_damaging(0.898)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.46A>C|ENSP00000350283.3:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|278|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|probably_damaging(0.964)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.46A>C|ENSP00000312236.5:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|65|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.46A>C|ENSP00000338007.3:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|172|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.34)|possibly_damaging(0.898)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.46A>C|ENSP00000418548.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|145|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.17)|benign(0.234)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.46A>C|ENSP00000420705.2:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|240|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.15)|benign(0.032)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.46A>C|ENSP00000417148.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|207|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.21)|possibly_damaging(0.898)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.46A>C|ENSP00000419274.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|240|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.28)|benign(0.08)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.46A>C|ENSP00000246907.4:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|159|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.2)|benign(0.248)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.46A>C|ENSP00000419988.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|278|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.17)|benign(0.281)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.46A>C|ENSP00000326002.6:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|159|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.34)|possibly_damaging(0.898)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.46A>C|ENSP00000417988.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|148|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.29)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.46A>C|ENSP00000420412.1:p.Asn16His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|148|46|16|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.19)|benign(0.004)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.46A>C|ENSP00000417554.1:p.Asn16His||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.46A>C|p.Asn16His|278/7270|46/5655|16/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1532| chr17 41276069 brca1:p.N16P T G . . OLD_CLUMPED=chr17:41276068:TT/GG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|164|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.45T>C|ENST00000357654.3:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|94|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.45T>C|ENST00000492859.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|204|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.45T>C|ENST00000489037.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|238|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.45T>C|ENST00000494123.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|277|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.45T>C|ENST00000471181.2:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|239|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.45T>C|ENST00000468300.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|158|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.45T>C|ENST00000477152.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|239|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.45T>C|ENST00000346315.3:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|206|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.45T>C|ENST00000470026.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|277|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.45T>C|ENST00000354071.3:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|158|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.45T>C|ENST00000461798.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|147|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.45T>C|ENST00000476777.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|147|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.45T>C|ENST00000478531.1:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|277|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.45T>C|ENST00000352993.3:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|144|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.45T>C|ENST00000491747.2:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|64|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.45T>C|ENST00000351666.3:c.45T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|171|45|15|I|atA/atC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.45T>C|ENST00000461221.1:c.45T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.45A>C|p.Ile15Ile|277/7270|45/5655|15/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1531| chr17 41276070 brca1:p.I15N A T . . CSQ=T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|163|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|benign(0.248)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.44T>A|ENSP00000350283.3:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|93|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.308)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.44T>A|ENSP00000420253.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|203|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|benign(0.286)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.44T>A|ENSP00000420781.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|237|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|benign(0.248)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.44T>A|ENSP00000419103.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|276|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.173)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.44T>A|ENSP00000418960.2:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|238|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|possibly_damaging(0.786)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.44T>A|ENSP00000417148.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|157|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.064)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.44T>A|ENSP00000419988.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|205|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|benign(0.248)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.44T>A|ENSP00000419274.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|238|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.097)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.44T>A|ENSP00000246907.4:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|276|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.206)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.44T>A|ENSP00000326002.6:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|157|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|benign(0.248)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.44T>A|ENSP00000417988.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|146|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.988)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.44T>A|ENSP00000417554.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|146|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.44T>A|ENSP00000420412.1:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|276|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.976)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.44T>A|ENSP00000312236.5:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|143|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|possibly_damaging(0.709)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.44T>A|ENSP00000420705.2:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|63|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.44T>A|ENSP00000338007.3:p.Ile15Asn||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|170|44|15|I/N|aTt/aAt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|benign(0.248)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.44T>A|ENSP00000418548.1:p.Ile15Asn||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.44T>A|p.Ile15Asn|276/7270|44/5655|15/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1530| chr17 41276070 brca1:p.I15S A C . . CSQ=C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|93|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.227)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.44T>G|ENSP00000420253.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|276|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.062)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.44T>G|ENSP00000418960.2:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|203|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|benign(0.072)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.44T>G|ENSP00000420781.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|237|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|benign(0.094)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.44T>G|ENSP00000419103.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|163|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|benign(0.094)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.44T>G|ENSP00000350283.3:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|276|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|probably_damaging(0.946)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.44T>G|ENSP00000312236.5:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|170|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|benign(0.094)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.44T>G|ENSP00000418548.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|63|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.44T>G|ENSP00000338007.3:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|143|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|benign(0.417)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.44T>G|ENSP00000420705.2:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|238|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.065)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.44T>G|ENSP00000246907.4:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|205|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|benign(0.094)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.44T>G|ENSP00000419274.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|157|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.014)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.44T>G|ENSP00000419988.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|238|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|possibly_damaging(0.623)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.44T>G|ENSP00000417148.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|146|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.44T>G|ENSP00000420412.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|146|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.974)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.44T>G|ENSP00000417554.1:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|276|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.051)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.44T>G|ENSP00000326002.6:p.Ile15Ser||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|157|44|15|I/S|aTt/aGt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|benign(0.094)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.44T>G|ENSP00000417988.1:p.Ile15Ser||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.44T>G|p.Ile15Ser|276/7270|44/5655|15/1884||,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1530| chr17 41276070 brca1:p.I15T A G . . CSQ=G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|276|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.038)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.44T>C|ENSP00000326002.6:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|157|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|benign(0.047)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.44T>C|ENSP00000417988.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|146|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.44T>C|ENSP00000420412.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|146|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.942)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.44T>C|ENSP00000417554.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|238|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|benign(0.342)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.44T>C|ENSP00000417148.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|205|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|benign(0.047)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.44T>C|ENSP00000419274.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|238|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.048)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.44T>C|ENSP00000246907.4:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|157|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.01)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.44T>C|ENSP00000419988.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|63|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.44T>C|ENSP00000338007.3:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|170|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|benign(0.047)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.44T>C|ENSP00000418548.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|143|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|benign(0.253)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.44T>C|ENSP00000420705.2:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|276|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|probably_damaging(0.92)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.44T>C|ENSP00000312236.5:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|163|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|benign(0.047)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.44T>C|ENSP00000350283.3:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|276|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.031)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.44T>C|ENSP00000418960.2:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|237|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|benign(0.047)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.44T>C|ENSP00000419103.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|203|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|benign(0.053)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.44T>C|ENSP00000420781.1:p.Ile15Thr||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|93|44|15|I/T|aTt/aCt|rs80357316&CM041679||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.152)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.44T>C|ENSP00000420253.1:p.Ile15Thr||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.44T>C|p.Ile15Thr|276/7270|44/5655|15/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1530| chr17 41276071 brca1:p.I15A A G . . OLD_CLUMPED=chr17:41276071:AT/GC;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|275|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(1)|possibly_damaging(0.561)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.43A>C|ENSP00000312236.5:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|169|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(1)|benign(0)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.43A>C|ENSP00000418548.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|62|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.74)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.43A>C|ENSP00000338007.3:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|142|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(1)|benign(0.001)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.43A>C|ENSP00000420705.2:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|237|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.94)|benign(0.004)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.43A>C|ENSP00000417148.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|204|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(1)|benign(0)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.43A>C|ENSP00000419274.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|237|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(1)|benign(0)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.43A>C|ENSP00000246907.4:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|156|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(1)|benign(0)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.43A>C|ENSP00000419988.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|275|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(1)|benign(0)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.43A>C|ENSP00000326002.6:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|156|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(1)|benign(0)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.43A>C|ENSP00000417988.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|145|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(1)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.43A>C|ENSP00000420412.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|145|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(1)|benign(0.002)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.43A>C|ENSP00000417554.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|92|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.7)|benign(0.031)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.43A>C|ENSP00000420253.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|275|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(1)|benign(0)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.43A>C|ENSP00000418960.2:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|202|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(1)|benign(0)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.43A>C|ENSP00000420781.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|236|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(1)|benign(0)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.43A>C|ENSP00000419103.1:p.Phe15Leu||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|162|43|15|F/L|Ttt/Ctt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|tolerated(1)|benign(0)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.43A>C|ENSP00000350283.3:p.Phe15Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.43T>C|p.Ile15Leu|275/7270|43/5655|15/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1529| chr17 41276071 brca1:p.I15C A C . . OLD_CLUMPED=chr17:41276071:AT/CA;CSQ=C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|236|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|benign(0.014)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.43A>G|ENSP00000419103.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|202|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.13)|benign(0.007)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.43A>G|ENSP00000420781.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|275|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.001)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.43A>G|ENSP00000418960.2:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|92|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.17)|benign(0.031)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.43A>G|ENSP00000420253.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|162|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|benign(0.014)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.43A>G|ENSP00000350283.3:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|142|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.05)|benign(0.067)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.43A>G|ENSP00000420705.2:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|62|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.07)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.43A>G|ENSP00000338007.3:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|169|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|benign(0.014)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.43A>G|ENSP00000418548.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|275|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.07)|benign(0.363)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.43A>G|ENSP00000312236.5:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|275|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.007)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.43A>G|ENSP00000326002.6:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|156|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|benign(0.014)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.43A>G|ENSP00000417988.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|145|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|benign(0.073)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.43A>G|ENSP00000417554.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|145|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.04)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.43A>G|ENSP00000420412.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|237|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.07)|benign(0.097)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.43A>G|ENSP00000417148.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|156|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.002)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.43A>G|ENSP00000419988.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|204|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|benign(0.014)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.43A>G|ENSP00000419274.1:p.Phe15Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|237|43|15|F/V|Ttt/Gtt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.002)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.43A>G|ENSP00000246907.4:p.Phe15Val||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.43T>G|p.Ile15Val|275/7270|43/5655|15/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1529| chr17 41276071 brca1:p.I15D A T . . OLD_CLUMPED=chr17:41276071:AT/TC;CSQ=T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|275|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|156|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||ENSP00000417988.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|145|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|145|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|237|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|156|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|237|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|204|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|142|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|62|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|169|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||ENSP00000418548.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|275|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|162|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|236|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|202|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|275|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|92|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Phe15Ile||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.43T>A|p.Ile15Ile|275/7270|43/5655|15/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1529| chr17 41276071 brca1:p.I15F T A . . CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|162|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|benign(0.051)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.43A>T|ENSP00000350283.3:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|92|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|benign(0.227)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.43A>T|ENSP00000420253.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|202|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|benign(0.028)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.43A>T|ENSP00000420781.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|236|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|benign(0.051)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.43A>T|ENSP00000419103.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|275|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.033)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.43A>T|ENSP00000418960.2:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|237|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.03)|benign(0.382)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.43A>T|ENSP00000417148.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|156|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.007)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.43A>T|ENSP00000419988.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|204|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|benign(0.051)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.43A>T|ENSP00000419274.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|237|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.052)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.43A>T|ENSP00000246907.4:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|275|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|benign(0.027)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.43A>T|ENSP00000326002.6:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|156|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|benign(0.051)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.43A>T|ENSP00000417988.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|145|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|benign(0.433)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.43A>T|ENSP00000417554.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|145|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.02)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.43A>T|ENSP00000420412.1:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|275|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.03)|probably_damaging(0.946)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.43A>T|ENSP00000312236.5:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|142|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.03)|benign(0.211)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.43A>T|ENSP00000420705.2:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|62|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.43A>T|ENSP00000338007.3:p.Ile15Phe||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|169|43|15|I/F|Att/Ttt|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|benign(0.051)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.43A>T|ENSP00000418548.1:p.Ile15Phe||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.43A>T|p.Ile15Phe|275/7270|43/5655|15/1884||,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>A|||||1529| chr17 41276071 brca1:p.I15H A T . . OLD_CLUMPED=chr17:41276071:AT/TG;CSQ=T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|92|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|202|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|236|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|275|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|162|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|275|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|142|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|62|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|169|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||ENSP00000418548.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|237|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|156|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|204|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|237|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|275|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|156|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||ENSP00000417988.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|145|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe15Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|145|43|15|F/I|Ttt/Att|rs80357031||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe15Ile||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.43T>A|p.Ile15Ile|275/7270|43/5655|15/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1529| chr17 41276072 brca1:p.I15A T C . . OLD_CLUMPED=chr17:41276071:AT/GC;CSQ=C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|274|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.42C>G|ENST00000352993.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|141|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.42C>G|ENST00000491747.2:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|61|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.42C>G|ENST00000351666.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|168|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.42C>G|ENST00000461221.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|236|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.42C>G|ENST00000468300.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|155|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.42C>G|ENST00000477152.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|236|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.42C>G|ENST00000346315.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|203|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.42C>G|ENST00000470026.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|155|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.42C>G|ENST00000461798.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|274|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.42C>G|ENST00000354071.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|144|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.42C>G|ENST00000476777.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|144|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.42C>G|ENST00000478531.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|91|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.42C>G|ENST00000492859.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|235|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.42C>G|ENST00000494123.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|201|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.42C>G|ENST00000489037.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|274|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.42C>G|ENST00000471181.2:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|161|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.42C>G|ENST00000357654.3:c.42C>G(p.%3D)||||||||likely||benign||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.42A>G|p.Val14Val|274/7270|42/5655|14/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>C|||||1528| chr17 41276072 brca1:p.I15C T A . . OLD_CLUMPED=chr17:41276071:AT/CA;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|61|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.42C>T|ENST00000351666.3:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|168|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.42C>T|ENST00000461221.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|141|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.42C>T|ENST00000491747.2:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|274|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.42C>T|ENST00000352993.3:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|155|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.42C>T|ENST00000461798.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|274|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.42C>T|ENST00000354071.3:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|144|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.42C>T|ENST00000478531.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|144|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.42C>T|ENST00000476777.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|236|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.42C>T|ENST00000468300.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|236|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.42C>T|ENST00000346315.3:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|203|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.42C>T|ENST00000470026.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|155|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.42C>T|ENST00000477152.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|274|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.42C>T|ENST00000471181.2:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|201|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.42C>T|ENST00000489037.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|235|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.42C>T|ENST00000494123.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|91|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.42C>T|ENST00000492859.1:c.42C>T(p.%3D)||||||||likely||benign||||||||,A|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|161|42|14|V|gtA/gtT|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.42C>T|ENST00000357654.3:c.42C>T(p.%3D)||||||||likely||benign||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.42A>T|p.Val14Val|274/7270|42/5655|14/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>A|||||1528| chr17 41276072 brca1:p.I15D T C . . OLD_CLUMPED=chr17:41276071:AT/TC;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|161|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.42C>G|ENST00000357654.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|91|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.42C>G|ENST00000492859.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|201|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.42C>G|ENST00000489037.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|235|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.42C>G|ENST00000494123.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|274|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.42C>G|ENST00000471181.2:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|236|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.42C>G|ENST00000468300.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|155|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.42C>G|ENST00000477152.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|236|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.42C>G|ENST00000346315.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|203|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.42C>G|ENST00000470026.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|155|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.42C>G|ENST00000461798.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|274|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.42C>G|ENST00000354071.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|144|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.42C>G|ENST00000476777.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|144|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.42C>G|ENST00000478531.1:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|274|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.42C>G|ENST00000352993.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|141|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.42C>G|ENST00000491747.2:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|61|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.42C>G|ENST00000351666.3:c.42C>G(p.%3D)||||||||likely||benign||||||||,C|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|168|42|14|V|gtA/gtG|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.42C>G|ENST00000461221.1:c.42C>G(p.%3D)||||||||likely||benign||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.42A>G|p.Val14Val|274/7270|42/5655|14/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>C|||||1528| chr17 41276072 brca1:p.I15H T G . . OLD_CLUMPED=chr17:41276071:AT/TG;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|274|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|61|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|168|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|141|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|203|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|236|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|155|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|236|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|144|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|144|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|274|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|155|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|91|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|274|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|201|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|235|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||||||||||likely||benign||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|161|42|14|V|gtA/gtC|rs80356827||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||likely||benign||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.42A>C|p.Val14Val|274/7270|42/5655|14/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1528| chr17 41276074 brca1:p.V14C A C . . OLD_CLUMPED=chr17:41276074:AC/CA;CSQ=C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|272|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|153|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||ENSP00000417988.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|142|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|142|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|234|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|153|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|234|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|201|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|139|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|59|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|166|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||ENSP00000418548.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|272|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|159|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|233|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|199|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|272|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Phe14Val||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|89|40|14|F/V|Ttc/Gtc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Phe14Val||||||||||||||||||;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.40T>G|p.Val14Val|272/7270|40/5655|14/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1526| chr17 41276074 brca1:p.V14P A G . . OLD_CLUMPED=chr17:41276074:AC/GG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|159|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.863)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.40G>C|ENSP00000350283.3:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|199|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.25)|benign(0.22)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.40G>C|ENSP00000420781.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|233|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.863)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.40G>C|ENSP00000419103.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|272|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.36)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.40G>C|ENSP00000418960.2:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|89|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.08)|benign(0.097)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.40G>C|ENSP00000420253.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|272|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.863)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.40G>C|ENSP00000326002.6:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|153|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.09)|possibly_damaging(0.863)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.40G>C|ENSP00000417988.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|142|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.09)|benign(0.218)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.40G>C|ENSP00000417554.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|142|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.40G>C|ENSP00000420412.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|234|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.14)|benign(0.091)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.40G>C|ENSP00000417148.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|153|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|tolerated(0.07)|possibly_damaging(0.785)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.40G>C|ENSP00000419988.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|201|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.863)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.40G>C|ENSP00000419274.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|234|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.23)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.40G>C|ENSP00000246907.4:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|139|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|benign(0.328)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.40G>C|ENSP00000420705.2:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|59|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.24)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.40G>C|ENSP00000338007.3:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|166|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.09)|possibly_damaging(0.863)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.40G>C|ENSP00000418548.1:p.Phe14Leu||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|272|40|14|F/L|Ttc/Ctc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.19)|possibly_damaging(0.824)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.40G>C|ENSP00000312236.5:p.Phe14Leu||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.40T>C|p.Val14Leu|272/7270|40/5655|14/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1526| chr17 41276074 brca1:p.V14Y A T . . OLD_CLUMPED=chr17:41276074:AC/TA;CSQ=T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|234|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.2)|benign(0.022)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.40G>A|ENSP00000417148.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|153|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|possibly_damaging(0.785)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.40G>A|ENSP00000419988.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|201|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.695)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.40G>A|ENSP00000419274.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|234|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.067)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.40G>A|ENSP00000246907.4:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|272|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|possibly_damaging(0.448)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.40G>A|ENSP00000326002.6:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|153|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.04)|possibly_damaging(0.695)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.40G>A|ENSP00000417988.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|142|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.09)|benign(0.054)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.40G>A|ENSP00000417554.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|142|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.40G>A|ENSP00000420412.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|272|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.26)|possibly_damaging(0.884)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.40G>A|ENSP00000312236.5:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|139|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|benign(0.098)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.40G>A|ENSP00000420705.2:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|59|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.35)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.40G>A|ENSP00000338007.3:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|166|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.04)|possibly_damaging(0.695)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.40G>A|ENSP00000418548.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|159|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.695)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.40G>A|ENSP00000350283.3:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|89|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.04)|benign(0.097)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.40G>A|ENSP00000420253.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|199|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.17)|benign(0.021)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.40G>A|ENSP00000420781.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|233|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.695)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.40G>A|ENSP00000419103.1:p.Phe14Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|272|40|14|F/I|Ttc/Atc|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.111)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.40G>A|ENSP00000418960.2:p.Phe14Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.40T>A|p.Val14Ile|272/7270|40/5655|14/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1526| chr17 41276075 brca1:p.V14C C A . . OLD_CLUMPED=chr17:41276074:AC/CA;CSQ=A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|158|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|88|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|232|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|198|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|271|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|152|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|200|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|233|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|233|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|141|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|141|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|271|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|152|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||ENSP00000417988.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|271|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|138|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|165|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||ENSP00000418548.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|58|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys13Asn||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.39G>T|p.Asn13Asn|271/7270|39/5655|13/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>A|||||1525| chr17 41276075 brca1:p.V14P C G . . OLD_CLUMPED=chr17:41276074:AC/GG;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|271|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.39T>C|ENSP00000312236.5:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|58|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.39T>C|ENSP00000338007.3:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|165|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.39T>C|ENSP00000418548.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|138|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.39T>C|ENSP00000420705.2:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|200|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.39T>C|ENSP00000419274.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|233|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.39T>C|ENSP00000246907.4:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|152|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.39T>C|ENSP00000419988.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|233|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.39T>C|ENSP00000417148.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|141|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.39T>C|ENSP00000420412.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|141|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.39T>C|ENSP00000417554.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|271|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.39T>C|ENSP00000326002.6:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|152|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.39T>C|ENSP00000417988.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|88|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.39T>C|ENSP00000420253.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|271|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.39T>C|ENSP00000418960.2:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|198|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.39T>C|ENSP00000420781.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|232|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.39T>C|ENSP00000419103.1:p.Lys13Asn||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|158|39|13|K/N|aaG/aaC|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.39T>C|ENSP00000350283.3:p.Lys13Asn||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.39G>C|p.Asn13Asn|271/7270|39/5655|13/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1525| chr17 41276075 brca1:p.V14Y C A . . OLD_CLUMPED=chr17:41276074:AC/TA;CSQ=A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|138|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000420705.2:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|58|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000338007.3:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|165|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||ENSP00000418548.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|271|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000312236.5:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|271|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000326002.6:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|152|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||ENSP00000417988.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|141|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||ENSP00000417554.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|141|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||ENSP00000420412.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|233|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||ENSP00000417148.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|152|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||ENSP00000419988.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|200|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||ENSP00000419274.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|233|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000246907.4:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|198|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||ENSP00000420781.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|232|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||ENSP00000419103.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|271|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000418960.2:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|88|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||ENSP00000420253.1:p.Lys13Asn||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|158|39|13|K/N|aaG/aaT|CX097397||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||ENSP00000350283.3:p.Lys13Asn||||||||||||||||||;ANN=A|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.39G>T|p.Asn13Asn|271/7270|39/5655|13/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>A|||||1525| chr17 41276077 brca1:p.N13A T G . . OLD_CLUMPED=chr17:41276077:TT/GC;CSQ=G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|269|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.07)|probably_damaging(0.943)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.37A>C|ENSP00000312236.5:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|56|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.04)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.37A>C|ENSP00000338007.3:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|163|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.03)|possibly_damaging(0.452)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.37A>C|ENSP00000418548.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|136|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.04)|benign(0.093)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.37A>C|ENSP00000420705.2:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|231|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.06)|benign(0.021)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.37A>C|ENSP00000417148.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|231|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.928)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.37A>C|ENSP00000246907.4:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|198|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.452)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.37A>C|ENSP00000419274.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|150|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.979)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.37A>C|ENSP00000419988.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|150|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.03)|possibly_damaging(0.452)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.37A>C|ENSP00000417988.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|269|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.37A>C|ENSP00000326002.6:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|139|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.04)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.37A>C|ENSP00000420412.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|139|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.03)|benign(0.016)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.37A>C|ENSP00000417554.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|86|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.03)|possibly_damaging(0.703)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.37A>C|ENSP00000420253.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|269|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.847)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.37A>C|ENSP00000418960.2:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|230|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.452)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.37A>C|ENSP00000419103.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|196|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.03)|benign(0.012)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.37A>C|ENSP00000420781.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|156|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.452)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.37A>C|ENSP00000350283.3:p.Asn13His||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.37A>C|p.Asn13His|269/7270|37/5655|13/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1523| chr17 41276077 brca1:p.N13L T A . . OLD_CLUMPED=chr17:41276077:TT/AG;CSQ=A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|136|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.02)|possibly_damaging(0.747)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.37A>T|ENSP00000420705.2:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|56|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.37A>T|ENSP00000338007.3:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|163|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.959)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.37A>T|ENSP00000418548.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|269|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.03)|probably_damaging(0.909)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.37A>T|ENSP00000312236.5:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|139|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|benign(0.427)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.37A>T|ENSP00000417554.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|139|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.02)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.37A>T|ENSP00000420412.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|150|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.959)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.37A>T|ENSP00000417988.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|269|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.37A>T|ENSP00000326002.6:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|150|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.979)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.37A>T|ENSP00000419988.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|198|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.959)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.37A>T|ENSP00000419274.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|231|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.905)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.37A>T|ENSP00000246907.4:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|231|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.03)|benign(0.379)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.37A>T|ENSP00000417148.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|196|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|benign(0.371)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.37A>T|ENSP00000420781.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|230|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.959)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.37A>T|ENSP00000419103.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|269|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.891)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.37A>T|ENSP00000418960.2:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|86|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|possibly_damaging(0.703)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.37A>T|ENSP00000420253.1:p.Asn13Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|156|37|13|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.959)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.37A>T|ENSP00000350283.3:p.Asn13Tyr||||||||||||||||||;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.37A>T|p.Asn13Tyr|269/7270|37/5655|13/1884||,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>A|||||1523| chr17 41276077 brca1:p.N13P T G . . OLD_CLUMPED=chr17:41276077:TT/GG;CSQ=G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|86|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.03)|possibly_damaging(0.703)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.37A>C|ENSP00000420253.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|196|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.03)|benign(0.012)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.37A>C|ENSP00000420781.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|230|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|possibly_damaging(0.452)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.37A>C|ENSP00000419103.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|269|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|possibly_damaging(0.847)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.37A>C|ENSP00000418960.2:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|156|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|possibly_damaging(0.452)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.37A>C|ENSP00000350283.3:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|269|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.07)|probably_damaging(0.943)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.37A>C|ENSP00000312236.5:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|136|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.04)|benign(0.093)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.37A>C|ENSP00000420705.2:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|56|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.04)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.37A>C|ENSP00000338007.3:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|163|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.03)|possibly_damaging(0.452)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.37A>C|ENSP00000418548.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|150|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.979)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.37A>C|ENSP00000419988.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|198|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|possibly_damaging(0.452)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.37A>C|ENSP00000419274.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|231|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.928)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.37A>C|ENSP00000246907.4:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|231|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.06)|benign(0.021)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.37A>C|ENSP00000417148.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|139|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.03)|benign(0.016)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.37A>C|ENSP00000417554.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|139|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.04)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.37A>C|ENSP00000420412.1:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|269|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.37A>C|ENSP00000326002.6:p.Asn13His||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|150|37|13|N/H|Aat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.03)|possibly_damaging(0.452)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.37A>C|ENSP00000417988.1:p.Asn13His||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.37A>C|p.Asn13His|269/7270|37/5655|13/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1523| chr17 41276078 brca1:p.N13A T C . . OLD_CLUMPED=chr17:41276077:TT/GC;CSQ=C|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|138|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.36A>G|ENST00000476777.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|138|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.36A>G|ENST00000478531.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|149|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.36A>G|ENST00000461798.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|268|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.36A>G|ENST00000354071.3:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|149|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.36A>G|ENST00000477152.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|197|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.36A>G|ENST00000470026.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|230|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.36A>G|ENST00000346315.3:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|230|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.36A>G|ENST00000468300.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|135|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.36A>G|ENST00000491747.2:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|55|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.36A>G|ENST00000351666.3:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|162|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.36A>G|ENST00000461221.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|268|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.36A>G|ENST00000352993.3:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|155|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.36A>G|ENST00000357654.3:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|195|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.36A>G|ENST00000489037.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|229|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.36A>G|ENST00000494123.1:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|268|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.36A>G|ENST00000471181.2:c.36A>G(p.%3D)||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|85|36|12|Q|caA/caG|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.36A>G|ENST00000492859.1:c.36A>G(p.%3D)||||||||||||||||||;ExAC_AC_Hom=0;ExAC=17:41276078-41276078;ExAC_AN_SAS=16376;ExAC_AC_Het=4;ExAC_AN_Adj=105972;ExAC_AF=3.766e-05,3.766e-05;ExAC_AN=106202;ExAC_AN_EAS=7864;ExAC_AC_Adj=4;ExAC_AN_NFE=54204;ExAC_AC_EAS=0;ExAC_AC_SAS=4;ExAC_AC_AMR=0;ExAC_AN_AMR=11188;ExAC_AN_AFR=9044;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AC_AFR=0;ExAC_AN_OTH=692;ExAC_AC_NFE=0;ExAC_AC=4;ExAC_AN_FIN=6604;ANN=C|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.36A>G|p.Gln12Gln|268/7270|36/5655|12/1884||,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>C|||||1522| chr17 41276078 brca1:p.N13L T G . . OLD_CLUMPED=chr17:41276077:TT/AG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|155|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.36A>C|ENSP00000350283.3:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|85|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.11)|benign(0.216)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.36A>C|ENSP00000420253.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|268|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.977)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.36A>C|ENSP00000418960.2:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|229|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.36A>C|ENSP00000419103.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|195|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.06)|possibly_damaging(0.887)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.36A>C|ENSP00000420781.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|197|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.36A>C|ENSP00000419274.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|230|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.928)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.36A>C|ENSP00000246907.4:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|149|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.948)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.36A>C|ENSP00000419988.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|230|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.945)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.36A>C|ENSP00000417148.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|138|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.36A>C|ENSP00000420412.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|138|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.87)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.36A>C|ENSP00000417554.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|268|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.36A>C|ENSP00000326002.6:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|149|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.999)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.36A>C|ENSP00000417988.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|268|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|probably_damaging(0.989)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.36A>C|ENSP00000312236.5:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|162|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.36A>C|ENSP00000418548.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|55|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.36A>C|ENSP00000338007.3:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|135|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.992)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.36A>C|ENSP00000420705.2:p.Gln12His||||||||||||||||||;ExAC_AC=4;ExAC_AC_NFE=0;ExAC_AC_AFR=0;ExAC_AN_OTH=692;ExAC_AN_FIN=6604;ExAC_AN_AFR=9044;ExAC_AN_AMR=11188;ExAC_AC_AMR=0;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AN_EAS=7864;ExAC_AN=106202;ExAC_AF=3.766e-05,3.766e-05;ExAC_AC_SAS=4;ExAC_AC_EAS=0;ExAC_AN_NFE=54204;ExAC_AC_Adj=4;ExAC_AC_Hom=0;ExAC=17:41276078-41276078;ExAC_AN_Adj=105972;ExAC_AC_Het=4;ExAC_AN_SAS=16376;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.36A>C|p.Gln12His|268/7270|36/5655|12/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1522| chr17 41276078 brca1:p.N13P T G . . OLD_CLUMPED=chr17:41276077:TT/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|268|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.977)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.36A>C|ENSP00000418960.2:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|195|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.06)|possibly_damaging(0.887)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.36A>C|ENSP00000420781.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|229|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.36A>C|ENSP00000419103.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|85|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.11)|benign(0.216)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.36A>C|ENSP00000420253.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|155|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.36A>C|ENSP00000350283.3:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|55|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.36A>C|ENSP00000338007.3:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|162|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.36A>C|ENSP00000418548.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|135|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.992)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.36A>C|ENSP00000420705.2:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|268|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.02)|probably_damaging(0.989)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.36A>C|ENSP00000312236.5:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|138|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.36A>C|ENSP00000420412.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|138|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.87)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.36A>C|ENSP00000417554.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|268|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.986)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.36A>C|ENSP00000326002.6:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|149|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.999)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.36A>C|ENSP00000417988.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|230|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.928)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.36A>C|ENSP00000246907.4:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|197|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.36A>C|ENSP00000419274.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|149|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.948)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.36A>C|ENSP00000419988.1:p.Gln12His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|230|36|12|Q/H|caA/caC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.945)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.36A>C|ENSP00000417148.1:p.Gln12His||||||||||||||||||;ExAC_AC_AMR=0;ExAC_AN_AFR=9044;ExAC_AN_AMR=11188;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AC_AFR=0;ExAC_AN_OTH=692;ExAC_AC_NFE=0;ExAC_AC=4;ExAC_AN_FIN=6604;ExAC_AC_Hom=0;ExAC=17:41276078-41276078;ExAC_AN_SAS=16376;ExAC_AC_Het=4;ExAC_AN_Adj=105972;ExAC_AF=3.766e-05,3.766e-05;ExAC_AN_EAS=7864;ExAC_AN=106202;ExAC_AC_Adj=4;ExAC_AC_EAS=0;ExAC_AC_SAS=4;ExAC_AN_NFE=54204;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.36A>C|p.Gln12His|268/7270|36/5655|12/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1522| chr17 41276079 brca1:p.Q12P T G . . CSQ=G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|194|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.06)|possibly_damaging(0.779)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.35A>C|ENSP00000420781.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|228|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.998)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.35A>C|ENSP00000419103.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|267|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.97)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.35A>C|ENSP00000418960.2:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|84|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.1)|benign(0.153)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.35A>C|ENSP00000420253.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|154|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.998)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.35A>C|ENSP00000350283.3:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|134|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.01)|probably_damaging(0.963)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.35A>C|ENSP00000420705.2:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|54|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.01)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.35A>C|ENSP00000338007.3:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|161|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.998)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.35A>C|ENSP00000418548.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|267|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.01)|probably_damaging(0.964)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.35A>C|ENSP00000312236.5:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|137|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|possibly_damaging(0.834)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.35A>C|ENSP00000417554.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|137|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.01)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.35A>C|ENSP00000420412.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|267|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.98)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.35A>C|ENSP00000326002.6:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|148|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.1)|probably_damaging(0.998)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.35A>C|ENSP00000417988.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|148|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|possibly_damaging(0.84)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.35A>C|ENSP00000419988.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|196|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.998)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.35A>C|ENSP00000419274.1:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|229|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.863)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.35A>C|ENSP00000246907.4:p.Gln12Pro||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|229|35|12|Q/P|cAa/cCa|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.01)|probably_damaging(0.92)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.35A>C|ENSP00000417148.1:p.Gln12Pro||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.35A>C|p.Gln12Pro|267/7270|35/5655|12/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>G|||||1521| chr17 41276080 brca1:p.Q12I T A . . OLD_CLUMPED=chr17:41276080:TG/AT;CSQ=A|ENSG00000012048|ENST00000492859|Transcript|stop_gained&NMD_transcript_variant|83|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.34C>T|ENSP00000420253.1:p.Lys12Ter||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|stop_gained|227|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.34C>T|ENSP00000419103.1:p.Lys12Ter|||||||||||||||POSITION:0.0239605355884425652|HC||,A|ENSG00000012048|ENST00000489037|Transcript|stop_gained|193|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.34C>T|ENSP00000420781.1:p.Lys12Ter|||||||||||||||POSITION:0.114864864864864865|HC||,A|ENSG00000012048|ENST00000471181|Transcript|stop_gained|266|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.34C>T|ENSP00000418960.2:p.Lys12Ter|||||||||||||||POSITION:0.00601237842617152962|HC||,A|ENSG00000012048|ENST00000357654|Transcript|stop_gained|153|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.34C>T|ENSP00000350283.3:p.Lys12Ter|||||||||||||||POSITION:0.00608011444921316166|HC||,A|ENSG00000012048|ENST00000352993|Transcript|stop_gained|266|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.34C>T|ENSP00000312236.5:p.Lys12Ter|||||||||||||||POSITION:0.0156971375807940905|HC||,A|ENSG00000012048|ENST00000491747|Transcript|stop_gained|133|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.34C>T|ENSP00000420705.2:p.Lys12Ter|||||||||||||||POSITION:0.014912280701754386|HC||,A|ENSG00000012048|ENST00000461221|Transcript|stop_gained&NMD_transcript_variant|160|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.34C>T|ENSP00000418548.1:p.Lys12Ter||||||||||||||||||,A|ENSG00000012048|ENST00000351666|Transcript|stop_gained|53|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.34C>T|ENSP00000338007.3:p.Lys12Ter|||||||||||||||POSITION:0.0166421928536465981|HC||,A|ENSG00000012048|ENST00000477152|Transcript|stop_gained|147|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.34C>T|ENSP00000419988.1:p.Lys12Ter|||||||||||||||POSITION:0.0182110337439742903|HC||,A|ENSG00000012048|ENST00000470026|Transcript|stop_gained|195|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.34C>T|ENSP00000419274.1:p.Lys12Ter|||||||||||||||POSITION:0.0174627632254750899|HC||,A|ENSG00000012048|ENST00000346315|Transcript|stop_gained|228|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.34C>T|ENSP00000246907.4:p.Lys12Ter|||||||||||||||POSITION:0.00697435897435897436|HC||,A|ENSG00000012048|ENST00000468300|Transcript|stop_gained|228|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.34C>T|ENSP00000417148.1:p.Lys12Ter|||||||||||||||POSITION:0.0161904761904761905|HC||,A|ENSG00000012048|ENST00000476777|Transcript|stop_gained|136|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.34C>T|ENSP00000417554.1:p.Lys12Ter|||||||||||||||POSITION:0.0509745127436281859|HC||,A|ENSG00000012048|ENST00000478531|Transcript|stop_gained|136|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.34C>T|ENSP00000420412.1:p.Lys12Ter|||||||||||||||POSITION:0.0181818181818181818|HC||,A|ENSG00000012048|ENST00000354071|Transcript|stop_gained|266|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.34C>T|ENSP00000326002.6:p.Lys12Ter|||||||||||||||POSITION:0.00708776318532416093|HC||,A|ENSG00000012048|ENST00000461798|Transcript|stop_gained&NMD_transcript_variant|147|34|12|K/*|Aaa/Taa|rs80357134&CM031646||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.34C>T|ENSP00000417988.1:p.Lys12Ter||||||||||||||||||;ExAC_AN_Adj=105962;ExAC_AN_SAS=16374;ExAC_AC_Het=1;ExAC_AC_Hom=0;ExAC=rs80357134;ExAC_AN_NFE=54196;ExAC_AC_EAS=1;ExAC_AC_SAS=0;ExAC_AC_Adj=1;ExAC_AN=106202;ExAC_AN_EAS=7864;ExAC_AF=9.416e-06,9.416e-06;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN_AMR=11188;ExAC_AN_AFR=9044;ExAC_AC_AMR=0;ExAC_AN_FIN=6604;ExAC_AC=1;ExAC_AC_NFE=0;ExAC_AN_OTH=692;ExAC_AC_AFR=0;ANN=A|stop_gained|HIGH|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.34A>T|p.Gln12*|266/7270|34/5655|12/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>A|||||1520|;LOF=(BRCA1|BRCA1|1|1.00);NMD=(BRCA1|BRCA1|1|1.00) chr17 41276081 brca1:p.Q12I G T . . OLD_CLUMPED=chr17:41276080:TG/AT;CSQ=T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|152|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|82|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|192|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|226|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|265|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|146|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|227|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|194|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|227|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|135|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|135|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|265|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|146|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|265|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|132|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|52|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|159|33|11|V|gtC/gtA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.33C>A|p.Val11Val|265/7270|33/5655|11/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>T|||||1519| chr17 41276082 brca1:p.V11E A T . . CSQ=T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|191|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.32T>A|ENSP00000420781.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|225|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.32T>A|ENSP00000419103.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|264|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|benign(0.403)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.32T>A|ENSP00000418960.2:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|81|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.403)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.32T>A|ENSP00000420253.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|151|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.32T>A|ENSP00000350283.3:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|131|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.973)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.32T>A|ENSP00000420705.2:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|51|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.32T>A|ENSP00000338007.3:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|158|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.32T>A|ENSP00000418548.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|264|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.607)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.32T>A|ENSP00000312236.5:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|264|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.32T>A|ENSP00000326002.6:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|145|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.999)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.32T>A|ENSP00000417988.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|134|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.996)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.32T>A|ENSP00000417554.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|134|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.32T>A|ENSP00000420412.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|226|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.977)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.32T>A|ENSP00000417148.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|145|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.954)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.32T>A|ENSP00000419988.1:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|226|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|benign(0.047)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.32T>A|ENSP00000246907.4:p.Val11Glu||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|193|32|11|V/E|gTa/gAa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.32T>A|ENSP00000419274.1:p.Val11Glu||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.32T>A|p.Val11Glu|264/7270|32/5655|11/1884||,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1518| chr17 41276082 brca1:p.V11G A C . . CSQ=C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|131|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.32T>G|ENSP00000420705.2:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|51|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.32T>G|ENSP00000338007.3:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|158|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.32T>G|ENSP00000418548.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|264|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0)|possibly_damaging(0.504)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.32T>G|ENSP00000312236.5:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|134|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0)|probably_damaging(0.998)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.32T>G|ENSP00000417554.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|134|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.32T>G|ENSP00000420412.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|145|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0)|probably_damaging(0.999)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.32T>G|ENSP00000417988.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|264|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.991)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.32T>G|ENSP00000326002.6:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|145|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.927)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.32T>G|ENSP00000419988.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|226|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.856)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.32T>G|ENSP00000246907.4:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|193|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.32T>G|ENSP00000419274.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|226|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0)|probably_damaging(0.998)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.32T>G|ENSP00000417148.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|191|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0)|probably_damaging(0.999)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.32T>G|ENSP00000420781.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|225|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.32T>G|ENSP00000419103.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|264|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.967)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.32T>G|ENSP00000418960.2:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|81|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0)|benign(0.307)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.32T>G|ENSP00000420253.1:p.Val11Gly||||||||||||||||||,C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|151|32|11|V/G|gTa/gGa|rs80357017&CM940170||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.32T>G|ENSP00000350283.3:p.Val11Gly||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.32T>G|p.Val11Gly|264/7270|32/5655|11/1884||,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>C|||||1518| chr17 41276083 brca1:p.V11K A T . . OLD_CLUMPED=chr17:41276083:AC/TT;CSQ=T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|80|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.16)|benign(0.097)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.31G>A|ENSP00000420253.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|190|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.24)|probably_damaging(0.996)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.31G>A|ENSP00000420781.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|224|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.31G>A|ENSP00000419103.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|263|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.927)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.31G>A|ENSP00000418960.2:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|150|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.31G>A|ENSP00000350283.3:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|263|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.17)|benign(0.198)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.31G>A|ENSP00000312236.5:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|130|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.22)|possibly_damaging(0.859)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.31G>A|ENSP00000420705.2:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|50|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.23)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.31G>A|ENSP00000338007.3:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|157|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.16)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.31G>A|ENSP00000418548.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|144|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|possibly_damaging(0.785)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.31G>A|ENSP00000419988.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|192|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.31G>A|ENSP00000419274.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|225|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.792)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.31G>A|ENSP00000246907.4:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|225|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.19)|possibly_damaging(0.812)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.31G>A|ENSP00000417148.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|133|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.12)|possibly_damaging(0.519)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.31G>A|ENSP00000417554.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|133|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.21)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.31G>A|ENSP00000420412.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|144|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.16)|probably_damaging(0.996)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.31G>A|ENSP00000417988.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|263|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.971)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.31G>A|ENSP00000326002.6:p.Leu11Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.31T>A|p.Val11Ile|263/7270|31/5655|11/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1517| chr17 41276083 brca1:p.V11P A G . . OLD_CLUMPED=chr17:41276083:AC/GG;CSQ=G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|263|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.31G>C|ENST00000471181.2:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|224|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.31G>C|ENST00000494123.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|190|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.31G>C|ENST00000489037.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|80|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.31G>C|ENST00000492859.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|150|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.31G>C|ENST00000357654.3:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|50|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.31G>C|ENST00000351666.3:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|157|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.31G>C|ENST00000461221.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|130|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.31G>C|ENST00000491747.2:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|263|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.31G>C|ENST00000352993.3:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|144|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.31G>C|ENST00000461798.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|263|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.31G>C|ENST00000354071.3:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|133|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.31G>C|ENST00000478531.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|133|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.31G>C|ENST00000476777.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|225|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.31G>C|ENST00000468300.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|225|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.31G>C|ENST00000346315.3:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|192|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.31G>C|ENST00000470026.1:c.31G>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|144|31|11|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.31G>C|ENST00000477152.1:c.31G>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.31T>C|p.Val11Leu|263/7270|31/5655|11/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1517| chr17 41276083 brca1:p.V11Q A T . . OLD_CLUMPED=chr17:41276083:AC/TG;CSQ=T|ENSG00000012048|ENST00000476777|Transcript|missense_variant|133|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.12)|possibly_damaging(0.519)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.31G>A|ENSP00000417554.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|missense_variant|133|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.21)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.31G>A|ENSP00000420412.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|144|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.16)|probably_damaging(0.996)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.31G>A|ENSP00000417988.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|missense_variant|263|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.971)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.31G>A|ENSP00000326002.6:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|missense_variant|144|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|possibly_damaging(0.785)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.31G>A|ENSP00000419988.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|missense_variant|192|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.31G>A|ENSP00000419274.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|missense_variant|225|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|possibly_damaging(0.792)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.31G>A|ENSP00000246907.4:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|missense_variant|225|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.19)|possibly_damaging(0.812)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.31G>A|ENSP00000417148.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|missense_variant|130|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.22)|possibly_damaging(0.859)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.31G>A|ENSP00000420705.2:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|missense_variant|50|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.23)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.31G>A|ENSP00000338007.3:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|157|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.16)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.31G>A|ENSP00000418548.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000352993|Transcript|missense_variant|263|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.17)|benign(0.198)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.31G>A|ENSP00000312236.5:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|missense_variant|150|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.31G>A|ENSP00000350283.3:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|missense_variant|190|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.24)|probably_damaging(0.996)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.31G>A|ENSP00000420781.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|missense_variant|224|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.31G>A|ENSP00000419103.1:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|missense_variant|263|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.927)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.31G>A|ENSP00000418960.2:p.Leu11Ile||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|80|31|11|L/I|Tta/Ata|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.16)|benign(0.097)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.31G>A|ENSP00000420253.1:p.Leu11Ile||||||||||||||||||;ANN=T|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.31T>A|p.Val11Ile|263/7270|31/5655|11/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>T|||||1517| chr17 41276084 brca1:p.V11K C T . . OLD_CLUMPED=chr17:41276083:AC/TT;CSQ=T|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|262|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|129|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|49|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|156|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|224|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|143|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|191|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|224|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|262|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|143|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|132|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|132|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|79|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|189|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|223|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850||||||||||||||||||||,T|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|262|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||,T|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|149|30|10|E|gaG/gaA|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734||||||||||||||||||||;ANN=T|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.30G>A|p.Glu10Glu|262/7270|30/5655|10/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,T|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>T|||||1516| chr17 41276084 brca1:p.V11P C G . . OLD_CLUMPED=chr17:41276083:AC/GG;CSQ=G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|156|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.63)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.30A>C|ENSP00000418548.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|49|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.58)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.30A>C|ENSP00000338007.3:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|129|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.42)|possibly_damaging(0.708)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.30A>C|ENSP00000420705.2:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|262|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.54)|benign(0.388)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.30A>C|ENSP00000312236.5:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|262|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.1)|benign(0.1)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.30A>C|ENSP00000326002.6:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|143|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.63)|probably_damaging(0.996)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.30A>C|ENSP00000417988.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|132|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.41)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.30A>C|ENSP00000420412.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|132|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.53)|benign(0.019)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.30A>C|ENSP00000417554.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|224|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.55)|benign(0.298)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.30A>C|ENSP00000417148.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|224|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.22)|probably_damaging(0.941)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.30A>C|ENSP00000246907.4:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|191|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.19)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.30A>C|ENSP00000419274.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|143|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|possibly_damaging(0.899)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.30A>C|ENSP00000419988.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|262|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.19)|probably_damaging(0.996)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.30A>C|ENSP00000418960.2:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|223|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.31)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.30A>C|ENSP00000419103.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|189|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.61)|probably_damaging(0.997)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.30A>C|ENSP00000420781.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|79|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.44)|benign(0.217)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.30A>C|ENSP00000420253.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|149|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.30A>C|ENSP00000350283.3:p.Glu10Asp||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.30G>C|p.Glu10Asp|262/7270|30/5655|10/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1516| chr17 41276084 brca1:p.V11Q C G . . OLD_CLUMPED=chr17:41276083:AC/TG;CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|149|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.01)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.30A>C|ENSP00000350283.3:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|79|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.44)|benign(0.217)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.30A>C|ENSP00000420253.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|189|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.61)|probably_damaging(0.997)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.30A>C|ENSP00000420781.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|223|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|tolerated(0.31)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.30A>C|ENSP00000419103.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|262|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|tolerated(0.19)|probably_damaging(0.996)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.30A>C|ENSP00000418960.2:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|224|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.55)|benign(0.298)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.30A>C|ENSP00000417148.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|143|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.01)|possibly_damaging(0.899)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.30A>C|ENSP00000419988.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|191|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|tolerated(0.19)|probably_damaging(0.996)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.30A>C|ENSP00000419274.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|224|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|tolerated(0.22)|probably_damaging(0.941)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.30A>C|ENSP00000246907.4:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|262|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|tolerated(0.1)|benign(0.1)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.30A>C|ENSP00000326002.6:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|143|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.63)|probably_damaging(0.996)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.30A>C|ENSP00000417988.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|132|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.53)|benign(0.019)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.30A>C|ENSP00000417554.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|132|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.41)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.30A>C|ENSP00000420412.1:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|262|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.54)|benign(0.388)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.30A>C|ENSP00000312236.5:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|129|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|tolerated(0.42)|possibly_damaging(0.708)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.30A>C|ENSP00000420705.2:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|49|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.58)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.30A>C|ENSP00000338007.3:p.Glu10Asp||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|156|30|10|E/D|gaG/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.63)|probably_damaging(0.996)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.30A>C|ENSP00000418548.1:p.Glu10Asp||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.30G>C|p.Glu10Asp|262/7270|30/5655|10/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1516| chr17 41276104 brca1:p.S4R G C . . OLD_CLUMPED=chr17:41276104:GA/CG;CSQ=C|ENSG00000012048|ENST00000357654|Transcript|missense_variant|129|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0.03)|benign(0.338)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.10T>G|ENSP00000350283.3:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|59|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.11)|benign(0.097)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.10T>G|ENSP00000420253.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000489037|Transcript|missense_variant|169|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.16)|benign(0.134)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.10T>G|ENSP00000420781.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000494123|Transcript|missense_variant|203|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0.02)|benign(0.338)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.10T>G|ENSP00000419103.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000471181|Transcript|missense_variant|242|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0.02)|benign(0.352)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.10T>G|ENSP00000418960.2:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000477152|Transcript|missense_variant|123|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0.03)|possibly_damaging(0.661)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.10T>G|ENSP00000419988.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000470026|Transcript|missense_variant|171|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0.02)|benign(0.338)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.10T>G|ENSP00000419274.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000346315|Transcript|missense_variant|204|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0.02)|possibly_damaging(0.675)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.10T>G|ENSP00000246907.4:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000468300|Transcript|missense_variant|204|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.07)|benign(0.027)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.10T>G|ENSP00000417148.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000476777|Transcript|missense_variant|112|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.1)|benign(0.011)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.10T>G|ENSP00000417554.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000478531|Transcript|missense_variant|112|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.04)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.10T>G|ENSP00000420412.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000354071|Transcript|missense_variant|242|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0.02)|benign(0.234)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.10T>G|ENSP00000326002.6:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|123|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|benign(0.338)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.10T>G|ENSP00000417988.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000352993|Transcript|missense_variant|242|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.18)|benign(0.198)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.10T>G|ENSP00000312236.5:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000491747|Transcript|missense_variant|109|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.04)|benign(0.12)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.10T>G|ENSP00000420705.2:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|136|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.17)|benign(0.338)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.10T>G|ENSP00000418548.1:p.Pro4Ala||||||||||||||||||,C|ENSG00000012048|ENST00000351666|Transcript|missense_variant|29|10|4|P/A|Cct/Gct|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.1)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.10T>G|ENSP00000338007.3:p.Pro4Ala||||||||||||||||||;ANN=C|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.10C>G|p.Ser4Ala|242/7270|10/5655|4/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,C|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1G>C|||||1496| chr17 41276105 brca1:p.S4R A G . . OLD_CLUMPED=chr17:41276104:GA/CG;CSQ=G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|203|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.9A>C|ENST00000468300.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|122|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.9A>C|ENST00000477152.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|170|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.9A>C|ENST00000470026.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|203|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.9A>C|ENST00000346315.3:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|241|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.9A>C|ENST00000354071.3:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|122|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.9A>C|ENST00000461798.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|111|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.9A>C|ENST00000476777.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|111|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.9A>C|ENST00000478531.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|241|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.9A>C|ENST00000352993.3:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|108|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.9A>C|ENST00000491747.2:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|28|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.9A>C|ENST00000351666.3:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|135|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.9A>C|ENST00000461221.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|128|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.9A>C|ENST00000357654.3:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|58|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.9A>C|ENST00000492859.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|168|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.9A>C|ENST00000489037.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|202|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.9A>C|ENST00000494123.1:c.9A>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|241|9|3|F|ttT/ttC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.9A>C|ENST00000471181.2:c.9A>C(p.%3D)||||||||||||||||||;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.9T>C|p.Leu3Phe|241/7270|9/5655|3/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1495| chr17 41276107 brca1:p.L3P A G . . OLD_CLUMPED=chr17:41276107:AA/GG;CSQ=G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|56|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.7T>C|ENST00000492859.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|166|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.7T>C|ENST00000489037.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|200|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.7T>C|ENST00000494123.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|239|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.7T>C|ENST00000471181.2:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|126|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.7T>C|ENST00000357654.3:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|239|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.7T>C|ENST00000352993.3:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|106|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.7T>C|ENST00000491747.2:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|133|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.7T>C|ENST00000461221.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|26|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.7T>C|ENST00000351666.3:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|120|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.7T>C|ENST00000477152.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|168|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.7T>C|ENST00000470026.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|201|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.7T>C|ENST00000346315.3:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|201|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.7T>C|ENST00000468300.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|109|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.7T>C|ENST00000476777.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|109|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.7T>C|ENST00000478531.1:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|239|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.7T>C|ENST00000354071.3:c.7T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|120|7|3|L|Tta/Cta|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.7T>C|ENST00000461798.1:c.7T>C(p.%3D)||||||||||||||||||;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.7T>C|p.Leu3Leu|239/7270|7/5655|3/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1493| chr17 41276108 brca1:p.L3P A G . . OLD_CLUMPED=chr17:41276107:AA/GG;CSQ=G|ENSG00000012048|ENST00000354071|Transcript|synonymous_variant|238|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|||2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.6T>C|ENST00000354071.3:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|synonymous_variant&NMD_transcript_variant|119|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.6T>C|ENST00000461798.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|synonymous_variant|108|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.6T>C|ENST00000478531.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|synonymous_variant|108|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|||2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.6T>C|ENST00000476777.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|synonymous_variant|200|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|||2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.6T>C|ENST00000468300.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|synonymous_variant|200|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|||2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.6T>C|ENST00000346315.3:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|synonymous_variant|167|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|||2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.6T>C|ENST00000470026.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|synonymous_variant|119|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|||2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.6T>C|ENST00000477152.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|synonymous_variant|25|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|||1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.6T>C|ENST00000351666.3:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|synonymous_variant&NMD_transcript_variant|132|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|||2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.6T>C|ENST00000461221.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|synonymous_variant|105|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.6T>C|ENST00000491747.2:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|synonymous_variant|238|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|||2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.6T>C|ENST00000352993.3:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|synonymous_variant|125|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|||2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.6T>C|ENST00000357654.3:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|synonymous_variant|238|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|||2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.6T>C|ENST00000471181.2:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|synonymous_variant|199|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|||2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.6T>C|ENST00000494123.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|synonymous_variant|165|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|||2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.6T>C|ENST00000489037.1:c.6T>C(p.%3D)||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|synonymous_variant&NMD_transcript_variant|55|6|2|D|gaT/gaC|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|||2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.6T>C|ENST00000492859.1:c.6T>C(p.%3D)||||||||||||||||||;ExAC_AC_OTH=0;ExAC_AC_FIN=0;ExAC_AN_AFR=8998;ExAC_AN_AMR=11096;ExAC_AC_AMR=0;ExAC_AN_FIN=6586;ExAC_AC_NFE=0;ExAC_AC=2;ExAC_AN_OTH=692;ExAC_AC_AFR=2;ExAC_AN_Adj=105290;ExAC_AN_SAS=16238;ExAC_AC_Het=2;ExAC_AC_Hom=0;ExAC=17:41276108-41276108;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AN_NFE=53840;ExAC_AC_Adj=2;ExAC_AN_EAS=7840;ExAC_AN=106202;ExAC_AF=1.883e-05,1.883e-05;ANN=G|synonymous_variant|LOW|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.6T>C|p.Asp2Asp|238/7270|6/5655|2/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1A>G|||||1492| chr17 41276110 brca1:p.D2H C G . . CSQ=G|ENSG00000012048|ENST00000357654|Transcript|missense_variant|123|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.4G>C|ENSP00000350283.3:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|53|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|possibly_damaging(0.861)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.4G>C|ENSP00000420253.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|missense_variant|236|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.998)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.4G>C|ENSP00000418960.2:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|missense_variant|197|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.4G>C|ENSP00000419103.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|missense_variant|163|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.4G>C|ENSP00000420781.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|missense_variant|198|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.07)|probably_damaging(0.998)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.4G>C|ENSP00000417148.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|missense_variant|165|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.4G>C|ENSP00000419274.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|missense_variant|198|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.956)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.4G>C|ENSP00000246907.4:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|missense_variant|117|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.4G>C|ENSP00000419988.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|missense_variant|236|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.4G>C|ENSP00000326002.6:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|117|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(0.999)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.4G>C|ENSP00000417988.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|missense_variant|106|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|tolerated(0.05)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.4G>C|ENSP00000420412.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|missense_variant|106|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.02)|probably_damaging(0.991)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.4G>C|ENSP00000417554.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|missense_variant|236|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.06)|probably_damaging(0.934)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.4G>C|ENSP00000312236.5:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|130|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.02)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.4G>C|ENSP00000418548.1:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|missense_variant|23|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.03)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.4G>C|ENSP00000338007.3:p.Asp2His||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|missense_variant|103|4|2|D/H|Gat/Cat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.05)|probably_damaging(1)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.4G>C|ENSP00000420705.2:p.Asp2His||||||||||||||||||;ExAC_AC_AFR=0;ExAC_AN_OTH=692;ExAC_AC=1;ExAC_AC_NFE=1;ExAC_AN_FIN=6582;ExAC_AC_AMR=0;ExAC_AN_AMR=11076;ExAC_AN_AFR=8984;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AF=9.416e-06,9.416e-06;ExAC_AN=106202;ExAC_AN_EAS=7822;ExAC_AC_Adj=1;ExAC_AN_NFE=53704;ExAC_AC_SAS=0;ExAC_AC_EAS=0;ExAC_AC_Hom=0;ExAC=17:41276110-41276110;ExAC_AN_SAS=16214;ExAC_AC_Het=1;ExAC_AN_Adj=105074;ANN=G|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.4G>C|p.Asp2His|236/7270|4/5655|2/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1490| chr17 41276110 brca1:p.D2L T A . . OLD_CLUMPED=chr17:41276110:TC/AG;CSQ=A|ENSG00000012048|ENST00000351666|Transcript|missense_variant|23|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|deleterious(0.02)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.4G>T|ENSP00000338007.3:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461221|Transcript|missense_variant&NMD_transcript_variant|130|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.4G>T|ENSP00000418548.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000491747|Transcript|missense_variant|103|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0.03)|probably_damaging(1)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.4G>T|ENSP00000420705.2:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000352993|Transcript|missense_variant|236|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|deleterious(0.04)|probably_damaging(0.934)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.4G>T|ENSP00000312236.5:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000478531|Transcript|missense_variant|106|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0.04)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.4G>T|ENSP00000420412.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000476777|Transcript|missense_variant|106|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|deleterious(0.01)|probably_damaging(0.994)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.4G>T|ENSP00000417554.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000461798|Transcript|missense_variant&NMD_transcript_variant|117|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|deleterious(0.01)|probably_damaging(0.999)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.4G>T|ENSP00000417988.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000354071|Transcript|missense_variant|236|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.998)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.4G>T|ENSP00000326002.6:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000470026|Transcript|missense_variant|165|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.4G>T|ENSP00000419274.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000346315|Transcript|missense_variant|198|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.956)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.4G>T|ENSP00000246907.4:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000477152|Transcript|missense_variant|117|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|probably_damaging(0.99)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.4G>T|ENSP00000419988.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000468300|Transcript|missense_variant|198|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|deleterious(0.05)|probably_damaging(0.998)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.4G>T|ENSP00000417148.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000471181|Transcript|missense_variant|236|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.998)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.4G>T|ENSP00000418960.2:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000489037|Transcript|missense_variant|163|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|deleterious(0.01)|probably_damaging(0.999)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.4G>T|ENSP00000420781.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000494123|Transcript|missense_variant|197|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.999)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.4G>T|ENSP00000419103.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000492859|Transcript|missense_variant&NMD_transcript_variant|53|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|deleterious(0.01)|possibly_damaging(0.861)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.4G>T|ENSP00000420253.1:p.Asn2Tyr||||||||||||||||||,A|ENSG00000012048|ENST00000357654|Transcript|missense_variant|123|4|2|N/Y|Aat/Tat|||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.999)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.4G>T|ENSP00000350283.3:p.Asn2Tyr||||||||||||||||||;ExAC_AC_Hom=0;ExAC=17:41276110-41276110;ExAC_AN_SAS=16214;ExAC_AC_Het=1;ExAC_AN_Adj=105074;ExAC_AF=9.416e-06,9.416e-06;ExAC_AN=106202;ExAC_AN_EAS=7822;ExAC_AC_Adj=1;ExAC_AN_NFE=53704;ExAC_AC_EAS=0;ExAC_AC_SAS=0;ExAC_AC_AMR=0;ExAC_AN_AMR=11076;ExAC_AN_AFR=8984;ExAC_AC_FIN=0;ExAC_AC_OTH=0;ExAC_AN_OTH=692;ExAC_AC_AFR=0;ExAC_AC_NFE=1;ExAC_AC=1;ExAC_AN_FIN=6582;ANN=A|missense_variant|MODERATE|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.4A>T|p.Asp2Tyr|236/7270|4/5655|2/1884||WARNING_REF_DOES_NOT_MATCH_GENOME,A|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1T>A|||||1490| chr17 41276111 brca1:p.D2L C G . . OLD_CLUMPED=chr17:41276110:TC/AG;CSQ=G|ENSG00000012048|ENST00000461221|Transcript|initiator_codon_variant&NMD_transcript_variant|129|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000418548|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.16)|probably_damaging(0.977)|2/23||Superfamily_domains:SSF57850|ENST00000461221.1:c.3G>C|ENSP00000418548.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000351666|Transcript|initiator_codon_variant|22|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000338007||G3XAC3_HUMAN&Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000014172D|tolerated(0.21)|unknown(0)|1/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000351666.3:c.3G>C|ENSP00000338007.3:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000491747|Transcript|initiator_codon_variant|102|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding||CCDS11454.2|ENSP00000420705|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN&B4DES0_HUMAN|UPI000013C85E|deleterious(0)|probably_damaging(0.995)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000491747.2:c.3G>C|ENSP00000420705.2:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000352993|Transcript|initiator_codon_variant|235|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000312236|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&K7EPC7_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000013ECD3|tolerated(0.29)|benign(0.043)|2/22||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000352993.3:c.3G>C|ENSP00000312236.5:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000478531|Transcript|initiator_codon_variant|105|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420412||Q9UE29_HUMAN&Q92897_HUMAN&K4K7U9_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&E7EUM2_HUMAN&E7EQW4_HUMAN&C4PFY7_HUMAN|UPI0001B79086|deleterious(0)||2/18||Superfamily_domains:SSF57850|ENST00000478531.1:c.3G>C|ENSP00000420412.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000476777|Transcript|initiator_codon_variant|105|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000417554||Q92897_HUMAN&K4K7U9_HUMAN&G1UI37_HUMAN&E7EQW4_HUMAN|UPI0001B7908B|tolerated(0.15)|possibly_damaging(0.841)|2/9||Superfamily_domains:SSF57850|ENST00000476777.1:c.3G>C|ENSP00000417554.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000354071|Transcript|initiator_codon_variant|235|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000326002||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&F8W8H7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000013CC06|deleterious(0)|probably_damaging(0.916)|2/18||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000354071.3:c.3G>C|ENSP00000326002.6:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000461798|Transcript|initiator_codon_variant&NMD_transcript_variant|116|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000417988|BRCA1_HUMAN|Q92897_HUMAN&G1UI37_HUMAN|UPI0000145115|tolerated(0.16)|probably_damaging(0.977)|2/7||Superfamily_domains:SSF57850|ENST00000461798.1:c.3G>C|ENSP00000417988.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000470026|Transcript|initiator_codon_variant|164|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419274||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN|UPI000189202D|deleterious(0)|probably_damaging(0.977)|2/10||Superfamily_domains:SSF57850|ENST00000470026.1:c.3G>C|ENSP00000419274.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000346315|Transcript|initiator_codon_variant|197|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000246907||Q9NQR3_HUMAN&Q92897_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K4K7V3_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E7EWN5_HUMAN&E7EMP0_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI000014170D|deleterious(0)|probably_damaging(0.914)|2/19||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000346315.3:c.3G>C|ENSP00000246907.4:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000477152|Transcript|initiator_codon_variant|116|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419988||Q92897_HUMAN&Q4EW25_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&E9PH68_HUMAN&E7ENB7_HUMAN&C9IZW4_HUMAN|UPI0001891B90|deleterious(0)|benign(0.38)|2/9||Superfamily_domains:SSF57850|ENST00000477152.1:c.3G>C|ENSP00000419988.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000468300|Transcript|initiator_codon_variant|197|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding||CCDS11455.2|ENSP00000417148|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&K4JXS7_HUMAN&G1UI37_HUMAN&C4PFY7_HUMAN|UPI000037834E|tolerated(0.28)|benign(0.298)|2/22||PIRSF_domain:PIRSF001734&Superfamily_domains:SSF57850|ENST00000468300.1:c.3G>C|ENSP00000417148.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000471181|Transcript|initiator_codon_variant|235|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|YES|CCDS11456.2|ENSP00000418960||Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFC7_HUMAN&E7EWN5_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000E0360B|deleterious(0)|probably_damaging(0.979)|2/24||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000471181.2:c.3G>C|ENSP00000418960.2:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000494123|Transcript|initiator_codon_variant|196|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000419103||Q92897_HUMAN&Q4EW25_HUMAN&Q3B891_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G1UI37_HUMAN&C9IZW4_HUMAN|UPI00005D3A1E|deleterious(0)|probably_damaging(0.977)|2/10||Superfamily_domains:SSF57850|ENST00000494123.1:c.3G>C|ENSP00000419103.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000489037|Transcript|initiator_codon_variant|162|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding|||ENSP00000420781||Q92897_HUMAN&G1UI37_HUMAN&E7ENB7_HUMAN|UPI0001B7908C|tolerated(0.15)|probably_damaging(0.986)|2/5||Superfamily_domains:SSF57850|ENST00000489037.1:c.3G>C|ENSP00000420781.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000492859|Transcript|initiator_codon_variant&NMD_transcript_variant|52|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|nonsense_mediated_decay|||ENSP00000420253||Q92897_HUMAN&G1UI37_HUMAN&E9PC22_HUMAN|UPI0000160BFA|tolerated(0.12)|benign(0.019)|2/11||Superfamily_domains:SSF57850|ENST00000492859.1:c.3G>C|ENSP00000420253.1:p.Met1?||||||||||||||||||,G|ENSG00000012048|ENST00000357654|Transcript|initiator_codon_variant|122|3|1|M/I|atG/atC|rs80357475&CM960163||-1|BRCA1|HGNC|1100|protein_coding||CCDS11453.1|ENSP00000350283|BRCA1_HUMAN|Q9UE29_HUMAN&Q9NQR3_HUMAN&Q92897_HUMAN&Q7KYU6_HUMAN&Q4EW25_HUMAN&Q3YB53_HUMAN&Q3YB50_HUMAN&Q3YB49_HUMAN&Q3LRH8_HUMAN&Q3B891_HUMAN&K7EPC7_HUMAN&K4K7V3_HUMAN&K4JXS7_HUMAN&K4JUB1_HUMAN&G4V503_HUMAN&G4V502_HUMAN&G4V500_HUMAN&G4V4Z8_HUMAN&G4V4Z7_HUMAN&G1UI37_HUMAN&E9PFZ0_HUMAN&E7EWN5_HUMAN&E7EP70_HUMAN&C9IZW4_HUMAN&C4PFY7_HUMAN|UPI0000126AC8|deleterious(0)|probably_damaging(0.977)|2/23||Superfamily_domains:SSF57850&PIRSF_domain:PIRSF001734|ENST00000357654.3:c.3G>C|ENSP00000350283.3:p.Met1?||||||||||||||||||;ANN=G|start_lost|HIGH|BRCA1|BRCA1|transcript|NM_007300.3|Coding|2/24|c.3G>C|p.Met1?|235/7270|3/5655|1/1884||,G|upstream_gene_variant|MODIFIER|NBR2|NBR2|transcript|NR_003108.1|Noncoding||n.-1C>G|||||1489|;LOF=(BRCA1|BRCA1|1|1.00)