Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > YP4695 > BY3327 > Y24801

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) Blocks Names Region McDonald BED combBED STRFTDNA
396854
22483451-G-A 20321565-G-A Y1967 DYZ19 +
17137473-C-T 15025593-C-T Z17452 YY+
22263279-G-A 20101393-G-A Z19545 DYZ19 +
6119466-C-G 6251425-C-G +
7067912-G-A 7199871-G-A Y61481 YY+
8041356-T-C 8173315-T-C BY69561 YY+
8436887-A-G 8568846-A-G Y63753 YY+
8506339-C-A 8638298-C-A Y63942 YY+
9024618-G-T 9187009-G-T Y64747 Y+
9776555-A-G 9938946-A-G Y65185 Y+
9850607-C-T 10012998-C-T Y65298 YY+
13815758-T-G 11695052-T-G BY90399 +
14096504-T-C 11975798-T-C Y65940 YY+
14364366-T-C 12243661-T-C Y66571 YY+
14791956-T-A 12680027-T-A Y67222 YY+
15174159-T-C 13062245-T-C Y67832 YY+
15617518-T-C 13505638-T-C Y68558 YY+
16497106-T-C 14385226-T-C Y70022 YY+
17843419-C-A 15731539-C-A Y72453 YY+
18678882-T-C 16567002-T-C Y73857 YY+
19449856-G-A 17337976-G-A Y75366 YY+
20803573-A-G 18641687-A-G Y75605 P4_Gap +
21313965-C-T 19152079-C-T Y76216 YY+
21547593-A-G 19385707-A-G Y76720 YY+
21657960-C-T 19496074-C-T Y76916 YY+
22246541-G-A 20084655-G-A BY43689 DYZ19 +
22484407-A-T 20322521-A-T BY224618 DYZ19 +
22600554-C-T 20438668-C-T Y78318 YY+
22601527-A-G 20439641-A-G Y78321 YY+
22755579-G-A 20593693-G-A BY140575 YY+
22824666-C-A 20662780-C-A Y78723 YY+
23256402-G-T 21094516-G-T Y79566 YY+
23463140-CCAA-C 21301254-CCAA-C +
23463144-G-T 21301258-G-T Y79913 YY+
23526786-G-A 21364900-G-A BY145945 YY+
28583527-T-C 26437380-T-C CTS12379 **
3436497-C-T 3568456-C-T L354 **
9693037-G-A 9855428-G-A BY80480 IR3_Prx **
17254835-C-A 15142955-C-A YP3191 FGC26834 **
22235840-C-A 20073954-C-A BY43668 DYZ19 **
6187362-C-T 6319321-C-T IR3_Dst ***
6194931-A-G 6326890-A-G IR3_Dst ***
18309302-TA-T 16197422-TA-T P6_Prx ***
18379117-C-T 16267237-C-T P6_Prx ***
22227015-G-C 20065129-G-C DYZ19 ***
22242773-G-A 20080887-G-A F7613 DYZ19 ***
22242806-G-C 20080920-G-C DYZ19 ***
22242811-C-A 20080925-C-A DYZ19 ***
22242825-C-T 20080939-C-T DYZ19 ***
22255107-C-T 20093221-C-T DYZ19 ***
22266463-G-C 20104577-G-C DYZ19 ***
22293065-TTAG-T 20131179-TTAG-T DYZ19 ***
22320118-G-T 20158232-G-T DYZ19 ***
22336231-C-G 20174345-C-G DYZ19 ***
22442516-G-T 20280630-G-T ZS7869 DYZ19 ***
22488117-T-A 20326231-T-A F25205 DYZ19 ***
24121772-T-C 21975625-T-C P3_b1 ***
24200853-A-G 22054706-A-G Y24801 P3_b1 ***
24214877-C-T 22068730-C-T P3_b1 ***
24950589-T-A 22804442-T-A g1 ***
25073179-G-A 22927032-G-A g1 ***
25987882-C-G 23841735-C-G P1_Y1 ***
26015995-A-G 23869848-A-G P1_Y1 ***
21050693-GTCTATCTA-G 18888807-GTCTATCTA-G 11×TCTA***

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.