TP53 Database: View <em>TP53</em> Germline Variants and Family History (Data File)

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	Family_ID	Family_code	Country	Population	Region	Development	Class	Generations_analyzed	Germline_mutation	MUT_ID	hg18_Chr17_coordinates	hg19_Chr17_coordinates	hg38_Chr17_coordinates	ExonIntron	Codon_number	Type	Description	c_description	g_description	g_description_GRCh38	WT_nucleotide	Mutant_nucleotide	WT_codon	Mutant_codon	CpG_site	Splice_site	Context_coding_3	WT_AA	Mutant_AA	Effect	AGVGDClass	SIFTClass	Polyphen2	REVEL	BayesDel	TransactivationClass	DNE_LOFclass	DNEclass	ProtDescription	COSMIClink	CLINVARlink	TCGA_ICGC_GENIE_count	Hotspot	Domain_function	Residue_function	Individual_ID	Individual_code	FamilyCase	FamilyCase_group	Generation	Sex	Germline_carrier	Mode_of_inheritance	Dead	Unaffected	Age	Tumor_ID	Topography	Short_topo	Morphology	Age_at_diagnosis	Ref_ID	Other_infos	p53mut_ID	Add_Info	SpliceAI_DS_AG	SpliceAI_DS_AL	SpliceAI_DS_DG	SpliceAI_DS_DL	SpliceAI_DP_AG	SpliceAI_DP_AL	SpliceAI_DP_DG	SpliceAI_DP_DL	PubMedLink

	Family_ID	Family_code	Country	Population	Region	Development	Class	Generations_analyzed	Germline_mutation	MUT_ID	hg18_Chr17_coordinates	hg19_Chr17_coordinates	hg38_Chr17_coordinates	ExonIntron	Codon_number	Type	Description	c_description	g_description	g_description_GRCh38	WT_nucleotide	Mutant_nucleotide	WT_codon	Mutant_codon	CpG_site	Splice_site	Context_coding_3	WT_AA	Mutant_AA	Effect	AGVGDClass	SIFTClass	Polyphen2	REVEL	BayesDel	TransactivationClass	DNE_LOFclass	DNEclass	ProtDescription	COSMIClink	CLINVARlink	TCGA_ICGC_GENIE_count	Hotspot	Domain_function	Residue_function	Individual_ID	Individual_code	FamilyCase	FamilyCase_group	Generation	Sex	Germline_carrier	Mode_of_inheritance	Dead	Unaffected	Age	Tumor_ID	Topography	Short_topo	Morphology	Age_at_diagnosis	Ref_ID	Other_infos	p53mut_ID	Add_Info	SpliceAI_DS_AG	SpliceAI_DS_AL	SpliceAI_DS_DG	SpliceAI_DS_DL	SpliceAI_DP_AG	SpliceAI_DP_AL	SpliceAI_DP_DG	SpliceAI_DP_DL	PubMedLink

	4	Bard94	USA	Northern America	Americas	More developed regions	LFL	2	TP53	3259	7518270	7577545	7674227	7-exon	246	A:T>G:C	A>G	c.736A>G	g.7577545T>C	g.7674227T>C	A	G	ATG	GTG	no	no	C_T	Met	Val	missense	C15	Damaging	D	0.924	0.371	non-functional	DNE_LOF	Yes	p.M246V	43555	100815	56	yes	DNA binding	Buried	4	Bard-II-4	mother	1st degree relative	2	F	Confirmed	NA	TRUE	FALSE	35	3	BRAIN	BRAIN	Glioma, malignant (C71._)	35	1		2		0	0	0	0	16	727	569	-1020	https://www.ncbi.nlm.nih.gov/pubmed/8075648
	4	Bard94	USA	Northern America	Americas	More developed regions	LFL	2	TP53	3259	7518270	7577545	7674227	7-exon	246	A:T>G:C	A>G	c.736A>G	g.7577545T>C	g.7674227T>C	A	G	ATG	GTG	no	no	C_T	Met	Val	missense	C15	Damaging	D	0.924	0.371	non-functional	DNE_LOF	Yes	p.M246V	43555	100815	56	yes	DNA binding	Buried	4	Bard-II-4	mother	1st degree relative	2	F	Confirmed	NA	TRUE	FALSE	35	2	CERVIX UTERI	CERVIX UTERI	Carcinoma, NOS	30	1		2		0	0	0	0	16	727	569	-1020	https://www.ncbi.nlm.nih.gov/pubmed/8075648
	4	Bard94	USA	Northern America	Americas	More developed regions	LFL	2	TP53	3259	7518270	7577545	7674227	7-exon	246	A:T>G:C	A>G	c.736A>G	g.7577545T>C	g.7674227T>C	A	G	ATG	GTG	no	no	C_T	Met	Val	missense	C15	Damaging	D	0.924	0.371	non-functional	DNE_LOF	Yes	p.M246V	43555	100815	56	yes	DNA binding	Buried	5	Bard-III-3	sister	1st degree relative	3	F	NA	NA	TRUE	FALSE		4	ADRENAL GLAND	ADRENAL GLAND	Adrenal cortical carcinoma (C74.0)	1	1		2		0	0	0	0	16	727	569	-1020	https://www.ncbi.nlm.nih.gov/pubmed/8075648
	4	Bard94	USA	Northern America	Americas	More developed regions	LFL	2	TP53	3259	7518270	7577545	7674227	7-exon	246	A:T>G:C	A>G	c.736A>G	g.7577545T>C	g.7674227T>C	A	G	ATG	GTG	no	no	C_T	Met	Val	missense	C15	Damaging	D	0.924	0.371	non-functional	DNE_LOF	Yes	p.M246V	43555	100815	56	yes	DNA binding	Buried	3	Bard-III-1	proband	proband	3	F	Confirmed	M	FALSE	FALSE		114	HEMATOPOIETIC AND RETICULOENDOTHELIAL SYSTEMS	HEMATOP. SYSTEM	Leukemia, NOS	6	1		2	in ref 62	0	0	0	0	16	727	569	-1020	https://www.ncbi.nlm.nih.gov/pubmed/8075648
	5	Bir16	UK	Northern Europe	Europe	More developed regions	LFS	2	TP53	2821	7518915	7578190	7674872	6-exon	220	A:T>G:C	A>G	c.659A>G	g.7578190T>C	g.7674872T>C	A	G	TAT	TGT	no	no	T_T	Tyr	Cys	missense	C65	Damaging	D	0.936	0.5625	non-functional	DNE_LOF	Moderate	p.Y220C	10758	127819	329	yes	DNA binding	Buried	6	Bir16-I-1	mother	1st degree relative	1	F	Confirmed	NA	TRUE	FALSE	27	5	BREAST	BREAST	Cancer, NOS	27	2	updated from ref 86	3		0	0.03	0.13	0.04	1	82	1	-18	https://www.ncbi.nlm.nih.gov/pubmed/8118819
	5	Bir16	UK	Northern Europe	Europe	More developed regions	LFS	2	TP53	2821	7518915	7578190	7674872	6-exon	220	A:T>G:C	A>G	c.659A>G	g.7578190T>C	g.7674872T>C	A	G	TAT	TGT	no	no	T_T	Tyr	Cys	missense	C65	Damaging	D	0.936	0.5625	non-functional	DNE_LOF	Moderate	p.Y220C	10758	127819	329	yes	DNA binding	Buried	7	Bir16-II-2	sister	1st degree relative	2	F	Confirmed	M	TRUE	FALSE		6	ADRENAL GLAND	ADRENAL GLAND	Adrenal cortical carcinoma (C74.0)	1	2	updated from ref 86	3		0	0.03	0.13	0.04	1	82	1	-18	https://www.ncbi.nlm.nih.gov/pubmed/8118819
	5	Bir16	UK	Northern Europe	Europe	More developed regions	LFS	2	TP53	2821	7518915	7578190	7674872	6-exon	220	A:T>G:C	A>G	c.659A>G	g.7578190T>C	g.7674872T>C	A	G	TAT	TGT	no	no	T_T	Tyr	Cys	missense	C65	Damaging	D	0.936	0.5625	non-functional	DNE_LOF	Moderate	p.Y220C	10758	127819	329	yes	DNA binding	Buried	8	Bir16-II-1	proband	proband	2	M	Confirmed	M	TRUE	FALSE		7	CONNECTIVE, SUBCUTANEOUS AND OTHER SOFT TISSUES	SOFT TISSUES	Rhabdomyosarcoma, NOS	1	2	updated from ref 86	3		0	0.03	0.13	0.04	1	82	1	-18	https://www.ncbi.nlm.nih.gov/pubmed/8118819
	9	Bir-83	UK	Northern Europe	Europe	More developed regions	LFS	3	TP53	2143	7519131	7578406	7675088	5-exon	175	G:C>A:T at CpG	G>A	c.524G>A	g.7578406C>T	g.7675088C>T	G	A	CGC	CAC	yes	no	C_C	Arg	His	missense	C25	Damaging	D	0.922	0.5462	non-functional	DNE_LOF	Yes	p.R175H	10648	12374	1000	yes	DNA binding	Buried	790	Bir83-I-2	mother	1st degree relative	1	F	NA	NA	FALSE	TRUE	77						2	updated from ref 86	4		0	0	0.01	0	-117	-134	11	248	https://www.ncbi.nlm.nih.gov/pubmed/8118819
	9	Bir-83	UK	Northern Europe	Europe	More developed regions	LFS	3	TP53	2143	7519131	7578406	7675088	5-exon	175	G:C>A:T at CpG	G>A	c.524G>A	g.7578406C>T	g.7675088C>T	G	A	CGC	CAC	yes	no	C_C	Arg	His	missense	C25	Damaging	D	0.922	0.5462	non-functional	DNE_LOF	Yes	p.R175H	10648	12374	1000	yes	DNA binding	Buried	789	Bir83-I-1	father	1st degree relative	1	M	NA	NA	FALSE	TRUE	77						2	updated from ref 86	4		0	0	0.01	0	-117	-134	11	248	https://www.ncbi.nlm.nih.gov/pubmed/8118819
	9	Bir-83	UK	Northern Europe	Europe	More developed regions	LFS	3	TP53	2143	7519131	7578406	7675088	5-exon	175	G:C>A:T at CpG	G>A	c.524G>A	g.7578406C>T	g.7675088C>T	G	A	CGC	CAC	yes	no	C_C	Arg	His	missense	C25	Damaging	D	0.922	0.5462	non-functional	DNE_LOF	Yes	p.R175H	10648	12374	1000	yes	DNA binding	Buried	21	Bir83-II-2	brother	1st degree relative	2	M	Confirmed	NA	TRUE	FALSE		26	CONNECTIVE, SUBCUTANEOUS AND OTHER SOFT TISSUES	SOFT TISSUES	Liposarcoma, NOS	39	2	updated from ref 86	4		0	0	0.01	0	-117	-134	11	248	https://www.ncbi.nlm.nih.gov/pubmed/8118819

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