Big Tree: Person Data

Tree Position

Unique Mutations

The mutations unique to this man are summarized in the table below. Those with a '+' or '*' confidence level are considered by FamilyTreeDNA or FullGenomesCorp to be high quality SNPs/INDELs. For completeness, all other mutations of lesser confidence are included as well. These additional mutations may be useful for distinguishing between very closely related men.

Occasionally, some of the mutations listed here will be thought to be shared with other men in which case they might appear in upstream blocks on the tree. When this happens, the 'Blocks' field will indicate what block they appear in. Such a situation might arise with BigY men if the BED data suggests another man may be positive for a SNP, even though it doesn't appear in his VCF data. It might also happen if Chromo2 testing or Sanger sequencing of other men not on the tree show the SNP to be shared.

POS-REF-ALT (hg19)	POS-REF-ALT (hg38)	Names	Region	McDonald BED	combBED	STR	1kG NA12762
19293800-G-A	17181920-G-A	FTA12541		Y	Y		+
16080583-G-C	13968703-G-C	FGC79998		Y			+
18928610-T-G	16816730-T-G			Y			+
17596639-A-C	15484759-A-C	Z31051		Y	Y		+
17323055-C-G	15211175-C-G			Y	Y		+
17323050-A-G	15211170-A-G			Y	Y		+
16271851-C-T	14159971-C-T			Y	Y		+
16132339-T-TAGAA	14020459-T-TAGAA						+
15263363-T-TAAA	13151453-T-TAAA						+
19417272-A-G	17305392-A-G	Y137274		Y	Y		+
15255765-GGTGGGT-G	13143847-TGTGG-T						+
14418148-ATATG-A							+
13884528-T-TAAA	11763822-T-TAAA						+
13884526-AC-A	11763820-AC-A						+
13641461-G-A	11485785-G-A	FT219177					+
13501688-A-G	11346012-A-G						+
19206182-C-T	17094302-C-T	Y19562		Y	Y		+
19559595-G-A	17447715-G-A			Y			+
13453449-CATTGT-C	11297773-CATTGT-C						+
26391561-C-G	24245414-C-G		P1_Y1				+
59017776-A-ATATATATATATAT	56871629-A-ATATATATATATAT						+
28598016-A-T	26451869-A-T						+
28577821-G-T	26431674-G-T						+
28569292-G-A	26423145-G-A						+
28560607-A-G	26414460-A-G	FT303095					+
28538772-C-T	26392625-C-T						+
24095525-G-C	21949378-G-C		P3_b1				+
21922851-A-C	19760965-A-C			Y	Y		+
23869126-TCAG-T	21707240-TCAG-T					7×CAG	+
23084724-G-T	20922838-G-T			Y			+
22520788-C-CAAA	20358902-C-CAAA					23×A	+
22477626-C-A	20315740-C-A	Y530	DYZ19				+
22319026-A-T	20157140-A-T		DYZ19				+
22258043-A-G	20096157-A-G		DYZ19				+
21978376-C-G	19816490-C-G			Y	Y		+
13487033-T-C	11331357-T-C						+
13319046-T-C	11163370-T-C						+
13292569-A-G	11136893-A-G						+
14448651-C-A	12327924-C-A	FT300933		Y	Y		+
19347315-T-C	17235435-T-C	CTS10247 PF3792 Z2661		Y	Y		+
18125767-A-G	16013887-A-G	BY17384		Y	Y		+
16481565-A-G	14369685-A-G	Z20519		Y	Y		+
15847522-C-T	13735642-C-T	BY207103		Y	Y		+
14891978-T-G	12780044-T-G	BY206840		Y	Y		+
14651791-C-G	12539856-C-G	BY206779		Y	Y		+
8696094-C-A	8828053-C-A			Y	Y	12×A	+
2840601-G-T	2972560-G-T			Y	Y		+
7626187-G-T	7758146-G-T			Y	Y	11×T	+
7093657-A-G	7225616-A-G	FT130300		Y	Y		+
18802044-C-A	16690164-C-A	ZS7794		Y	Y		+
14109316-C-T	11988610-C-T	Y90345		Y	Y	14×T	+
8341874-C-A	8473833-C-A			Y	Y	14×A	+
27637426-A-G	25491279-A-G		P1_Y2				+
21666324-C-G	19504438-C-G	BY208308		Y	Y		+
3195646-T-C	3327605-T-C						+
13292600-C-T	11136924-C-T						+
7907525-G-GC	8039484-G-GC						+
13260606-TCC-T	11104930-TCC-T						+
13143331-A-ATTT	10632817-A-ATTT						+
9993673-G-T	10156064-G-T	Z13510		Y			+
9970673-A-C	10133064-A-C	FGC80001		Y			+
9931759-C-T	10094150-C-T			Y			+
9451400-A-C	9613791-A-C			Y	Y		+
6434920-GTA-G	6566879-GTA-G						+
3301192-T-C	3433151-T-C						+
5818139-T-TAGAC	5950098-T-TAGAC						+
4548036-A-G	4679995-A-G						+
4093321-T-A	4225280-T-A						+
3770631-T-A	3902590-T-A	FT129694					+
3655081-C-G	3787040-C-G						+
3463851-C-CAA	3595810-C-CAA					18×A	+
3428558-T-G	3560517-T-G						+
59024021-GA-G	56877874-GA-G						+

In the table above, the meaning of the confidence field depends on whether the data comes from an FTDNA kit or an FGC kit. For FTDNA kits, + implies a "PASS" result with just one possible variant, * indicates a "PASS" but with multiple variants, ** indicates "REJECTED" with just a single variant, and *** indicates "REJECTED" with multiple possible variants. 'A*' are heterozygous variants not called by FTDNA, but still pulled from the VCF file. For FGC kits, + indicates over 99% likely genuine (95% for INDELs); * over 95% likely genuine (90% for INDELs); ** about 40% likely genuine; *** about 10% likely genuine. Manual entries read directly from a BAM file will be either + indicating positive, or * indicating that the data show a mixture of possible variants.

For the FTDNA kits, the BED data is encoded in the background color of the cells. Those cells with a white background have coverage, those with a grey background indicate no coverage in the BED file, and those with a pink background indicate the mutation is on the edge of a coverage region. These pink regions often indicate that the individual may be positive for a SNP even if there is no corresponding entry in the vcf file.

The combBED column indicates whether or not the mutation is a SNP and falls in the combBED region defined in Defining a New Rate Constant for Y-Chromosome SNPs based on Full Sequencing Data by Dmitry Adamov, Vladimir Guryanov, Sergey Karzhavin, Vladimir Tagankin, Vadim Urasin.

The McDonald BED column indicates whether or not the mutation is a SNP and falls in the BED region used by Dr. Iain McDonald in the age analysis he does for R-U106 men.

Mutation Notes:

Kit	POSITION-REF-ALT (hg19)	POSITION-REF-ALT (hg38)	Note
Manual	6302585-C-A	6434544-C-A	4 reads -- 3 C and 1 A.
Manual	14496297-G-GTGGATGGATGGA	12384494-G-GTGGA	Just one read, but it does seem to be 3 repeats longer than the reference sequence.
Manual	22318783-G-A	20156897-G-A	13G 2A 1T (poor quality read)

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1k Genomes

Tree Position

Unique Mutations

Mutation Notes: