Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z46512 > CTS3919 > Y23651 > Exact position not yet finalized.

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
13138169-T-C 10627655-T-C +
13606739-T-C 11451063-T-C +
15491941-G-GTA 13380061-G-GTA 19×TA+
15236941-T-A 13125027-T-A Y+
15148441-A-G 13036528-A-G Y+
14955172-G-T 12843247-G-T YY+
14891274-C-G 12779340-C-G YY+
14194333-C-T 12073627-C-T YY+
14061383-TG-T 11940677-TG-T +
14038882-G-T 11918176-G-T CTS1732 YY+
13898780-TGACGGTG-T 11778074-TGACGGTG-T +
13873378-A-G 11752672-A-G Y+
13616466-A-T 11460790-A-T +
13612029-C-A 11456353-C-A +
13568129-T-C 11412453-T-C +
15799187-CTT-C 13687307-CTT-C +
13545811-C-T 11390135-C-T +
13522531-T-A 11366855-T-A +
13428501-C-G 11272825-C-G +
13389962-A-G 11234286-A-G 13×TG+
13389911-A-G 11234235-A-G +
13389909-T-G 11234233-T-G +
13267779-C-CCCCT 11112103-C-CCCCT +
13267776-C-CCCCA 11112100-C-CCCCA +
13258630-G-A 11102954-G-A +
13257779-C-G 11102103-C-G +
10019975-T-G 10182366-T-G Y+
9996272-C-G 10158663-C-G Y+
15499228-T-C 13387348-T-C Z9195 V2984 YY+
16176606-G-T 14064726-G-T CTS5274 Y+
9430085-A-G 9592476-A-G Y+
22208212-G-T 20046326-G-T YY+
24070682-G-A 21924535-G-A FGC8026 P3_b1 +
23736800-A-G 21574914-A-G +
23451297-C-T 21289411-C-T YY+
22669438-C-T 20507552-C-T L973 M11652 YY+
22507942-G-T 20346056-G-T DYZ19 +
22487254-G-A 20325368-G-A ZS11146 DYZ19 +
22476643-T-G 20314757-T-G BY45509 DYZ19 +
22476631-T-A 20314745-T-A BY191964 DYZ19 +
22471862-G-A 20309976-G-A ZS1153 DYZ19 +
22447036-G-A 20285150-G-A DYZ19 +
22445319-G-A 20283433-G-A DYZ19 +
22243450-T-A 20081564-T-A DYZ19 +
22121820-A-G 19959934-A-G YY+
16222401-G-A 14110521-G-A YY+
21346428-C-A 19184542-C-A YY+
19556431-G-C 17444551-G-C CTS10584 Y+
19344883-T-G 17233003-T-G YY+
19259842-A-G 17147962-A-G YY+
19190434-A-G 17078554-A-G CTS9990 YY+
19049121-T-C 16937241-T-C YY+
18803244-C-A 16691364-C-A YY+
18044388-T-A 15932508-T-A YY+
17764752-T-C 15652872-T-C YY+
17335550-T-A 15223670-T-A YY+
16564393-T-TAGAC 14452513-T-TAGAC 4×AGAC+
16344400-C-CTTCTT 14232520-C-CTTCTT 5×CTT+
9989149-T-G 10151540-T-G Y+
9430021-T-A 9592412-T-A Y+
24205513-C-T 22059366-C-T ZS2679 P3_b1 +
16519977-A-T 14408097-A-T YY+
23032767-C-G 20870881-C-G CTS11245 YY+
22587102-C-T 20425216-C-T YY+
21969892-C-T 19808006-C-T S4385 YY+
21694835-C-T 19532949-C-T YY+
21378191-C-T 19216305-C-T Y+
21240296-C-T 19078410-C-T YY+
18894686-T-G 16782806-T-G CTS9441 S4377 YY+
18100701-C-T 15988821-C-T CTS8600 S4379 YY+
18034589-C-T 15922709-C-T CTS8450 S4387 YY+
17731885-C-T 15620005-C-T Y+
17365712-C-T 15253832-C-T CTS7226 S4388 YY+
17198800-A-T 15086920-A-T CTS6923 YY+
14568476-C-T 12456676-C-T Y+
2908594-C-T 3040553-C-T YY+
14167699-C-T 12046993-C-T CTS2058 Y+
14063200-G-A 11942494-G-A ZS2934 YY+
14020756-G-T 11900050-G-T YY+
13975170-G-A 11854464-G-A S4380 CTS1580 Y+
9827595-G-A 9989986-G-A YY+
9450013-A-T 9612404-A-T YY+
8324289-G-T 8456248-G-T Y+
8191452-T-C 8323411-T-C YY+
7702579-C-A 7834538-C-A YY+
7424440-C-T 7556399-C-T CTS1469 Y+
6683469-C-T 6815428-C-T Y+
25200915-G-A 23054768-G-A g1 4×AGAA+
23036196-C-G 20874310-C-G Y+
2946787-G-A 3078746-G-A +
9159434-C-G 9321825-C-G +
5540423-G-A 5672382-G-A FT28453 +
8444717-C-A 8576676-C-A YY+
8417959-A-C 8549918-A-C YY+
8351410-G-A 8483369-G-A YY+
8280299-C-T 8412258-C-T M3798 YY+
8159429-T-A 8291388-T-A YY+
7185603-A-T 7317562-A-T YY+
6599290-A-T 6731249-A-T +
6599289-A-T 6731248-A-T +
6346020-TG-T 6477979-TG-T +
6090702-G-A 6222661-G-A +
5926279-C-A 6058238-C-A +
5748285-A-T 5880244-A-T FT86325 +
5350191-C-A 5482150-C-A +
3012053-A-G 3144012-A-G +
5124780-C-A 5256739-C-A +
4911302-T-C 5043261-T-C +
4812704-G-A 4944663-G-A +
4529019-T-G 4660978-T-G +
3984483-G-A 4116442-G-A +
3902384-A-T 4034343-A-T +
3664359-T-C 3796318-T-C +
3636796-C-T 3768755-C-T +
3628401-A-G 3760360-A-G +
3436379-G-A 3568338-G-A Y581Y581 +
3378824-A-T 3510783-A-T +
3174369-C-T 3306328-C-T +
3097565-T-A 3229524-T-A +
26376543-G-A 24230396-G-A 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.

Mutation Notes:

Manual15266988-T-C13155077-T-C3C (YFull)
Manual14217388-C-T12096682-C-T1T (YFull)
Manual24972799-A-T22826652-A-T5A 4T (YFull)
Manual18815957-ACT-A16704077-ACT-A1 read deletion (YFull)
Manual13816627-GGGAAT-G11695921-GGGAAT-GYFull indicates there are 2 reads, both with the deletion.

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