Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > Z39589 > DF41/S524 > FGC8622 > FGC8621

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
20628433-T-G 18466547-T-G P4_Prx +
9150972-T-A 9313363-T-A BY156068 Y+
21478702-A-G 19316816-A-G BY133204 YY+
21165422-A-G 19003536-A-G BY130806 YY+
22663791-G-C 20501905-G-C BY139866 YY+
19546533-A-T 17434653-A-T BY129934 YY+
19037605-C-G 16925725-C-G BY125690 YY+
15125987-G-A 13014074-G-A BY99817 YY+
14357341-A-C 12236636-A-C BY95167 YY+
14028262-G-T 11907556-G-T BY92437 YY+
7877980-A-T 8009939-A-T BY68406 YY+
7851210-T-G 7983169-T-G BY68220 YY+
6736554-C-G 6868513-C-G BY60972 YY+
10086257-T-C 10248648-T-C **
22479601-A-G 20317715-A-G BY25220 DYZ19 **
22234774-A-C 20072888-A-C DYZ19 **
22479623-G-A 20317737-G-A BY25221 DYZ19 **
22479600-A-G 20317714-A-G BY25219 DYZ19 **
22479589-C-G 20317703-C-G Z25184 DYZ19 **
22451837-A-T 20289951-A-T DYZ19 ***
23668491-C-T 21506605-C-T ***
24248763-GA-G 22102616-GA-G P3_b1 ***
24982177-G-T 22836030-G-T g1 ***
22479390-G-C 20317504-G-C DYZ19 ***
13868751-G-A 11748045-G-A ***
22321632-G-T 20159746-G-T DYZ19 ***
22319592-A-T 20157706-A-T DYZ19 ***
22244103-A-G 20082217-A-G DYZ19 ***
22244098-A-G 20082212-A-G DYZ19 ***
22242588-C-G 20080702-C-G DYZ19 ***
22367155-T-A 20205269-T-A DYZ19 ***
17074139-T-TTG 14962259-T-TTG ***
9222818-CT-C 9385209-CT-C 13×T***
13729503-T-A 11573827-T-A ***
26162996-T-G 24016849-T-G P1_Y1 ***

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.

Uncertain Mutations

NGS tests don't always cover all of the Y chromosome and, even when they do, the results can be inconclusive. The following mutations don't have clear results and have been assumed to be positive or negative. For those mutations that are assumed to be positive, the assumed SNP/INDEL will likely be found on the tree in some upstream block. It is unclear if it should be placed upstream of your results or parallel to them. The situation is reversed for mutations assumed negative. Those SNPs/INDELs will likely be found on a parallel branch on the tree, and it is unclear if they should be positioned upstream. As more results come in, the ambiguity may resolve itself, or it may be necessary to consult the BAM file for your test (available from FamilyTreeDNA or FullGenomes Corp) or by direct SNP testing (Sanger Sequencing - YSEQ or FamilyTreeDNA).


BlockRegionPOS-REF-ALT (hg19)POS-REF-ALT (hg38)NamesNotes
458DYZ19 22424631-G-T 20262745-G-T Z17588 Uncertain, but assumed positive.

Age Analysis Information (work in progress)

Kit: 2873821094188079680948056644
Used in age calculations1094188079680948056644
Counts of SNPs1112
Variant counts last updated 2020-10-09 02:51:42.

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