Tree Position

R-P312/S116 > DF19/S232 > DF88 > FGC11833 > Z17110 > S4268 > Z17112 > BY44243 > Z17125 > Z29034

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 STR1kG
13373437-T-C 11217761-T-C +
17381531-C-T 15269651-C-T Y+
8232958-T-TTA 8364917-T-TTA +
13132187-C-G 10621673-C-G FT91477 +
13143276-C-A 10632762-C-A +
13143280-A-C 10632766-A-C +
13260501-T-G 11104825-T-G +
13544738-T-C 11389062-T-C +
13661326-GAATTC-G 11505650-GAATTC-G +
15660923-T-G 13549043-T-G YY+
15928368-TTGC-T 13816488-TTGC-T +
16533722-CAT-C 14421842-CAT-C +
18035663-GA-G 15923783-GA-G +
6414520-C-T 6546479-C-T +
18060350-A-ATATATATC 15948470-A-ATATATATC +
18687718-AC-A 16575838-AC-A +
18872278-CTTT-C 16760398-CTTT-C +
18872279-TTTC-T 16760399-TTTC-T +
20064092-C-T 17952212-C-T P5_Gap +
20842516-G-GAA 18680630-G-GAA P4_Dst +
21538192-A-T 19376306-A-T FGC24540 Y+
21906858-A-T 19744972-A-T YY+
22936313-T-TTTG 20774427-T-TTTG +
23209796-A-C 21047910-A-C Y+
23901432-N-G 21739546-N-G +
27810324-G-A 25664177-G-A P1_Y2 +
6414522-A-T 6546481-A-T +
6098247-A-T 6230206-A-T FT326144 +
7309551-A-T 7441510-A-T FT289347 Y+
2871362-G-C 3003321-G-C YY+
7714640-T-C 7846599-T-C FT289458 YY+
14422686-G-A 12301961-G-A FT116675 YY+
15540362-A-G 13428482-A-G CTS4280 YY+
15580455-G-A 13468575-G-A FT290522 YY+
18671059-G-C 16559179-G-C CTS9095 YY+
18873446-C-T 16761566-C-T FT305811 YY+
18956639-C-T 16844759-C-T CTS9546 YY+
21449883-G-A 19287997-G-A FT291944 Y+
22848129-A-G 20686243-A-G FT232428 YY+
23252460-C-G 21090574-C-G FT292481 YY+
23280040-G-A 21118154-G-A FT292491 YY+
2824736-CG-C 2956695-CG-C +
3074744-G-C 3206703-G-C FT230207 +
5986172-C-T 6118131-C-T FTA48177 +
3603488-G-A 3735447-G-A +
4032144-A-T 4164103-A-T +
4386359-C-T 4518318-C-T +
4408895-T-TAAA 4540854-T-TAAA 8×A+
4430225-AATAG-A 4562184-AATAG-A +
4456023-T-C 4587982-T-C FT35926 +
4507926-G-A 4639885-G-A +
4507927-C-T 4639886-C-T +
5042736-C-T 5174695-C-T FT322530 +
5043420-C-T 5175379-C-T +
5410139-C-T 5542098-C-T FT323810 +
5862884-A-G 5994843-A-G +
28483041-C-T 26336894-C-T +

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:

Manual17508792-G-A15396912-G-A2A. One of the reads isn't great quality, but it is an A.
Manual24083207-G-A21937060-G-AThere are 5 G reads, and 1 A read.
Manual18031963-GAGGA-G15920083-GAGGA-GThere is a length 6 repeat of AGGA at this position. The BAM file has 4 reads which cover the whole repeat, and all 4 show the deletion.
Manual24150520-A-G22004373-A-G4A 4G
Manual24196416-A-G22050269-A-G1A 1G and 1 misplaced read
Manual26079131-T-G23932984-T-G2G 1A 1T. The 1A read should be aligned elsewhere.
Manual2893552-AC-A3025511-AC-A7 positive reads and 1 misaligned read.
Manual22282507-T-A20120621-T-A3T 4A
Manual22310244-C-T20148358-C-T3C 2T

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