Tree Position

R-U106/S21 > Z2265 > Z381/S263 > S264/Z156 > FGC70809 > Y3966 > BY20122

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
252157
BigY3
252157
6310253-C-T 6442212-C-T IR3_Dst ***A*
18285714-C-G 16173834-C-G P6_Prx ***A*
19578014-T-C 17466134-T-C P5_Prx Y***A*
20740937-A-G 18579051-A-G P4_Prx ***A*
23719095-G-A 21557209-G-A ***A*
26176949-T-C 24030802-T-C P1_Y1 ***A*
13842725-A-G 11722019-A-G A*
18312273-C-T 16200393-C-T P6_Prx A*
19633904-C-T 17522024-C-T P5_Prx A*
20545874-G-A 18383988-G-A P5_Dst A*
24018340-C-T 21872193-C-T YA*
25548552-G-A 23402405-G-A P1_gr1 A*
16360026-GTATC-G 14248146-GTATC-G 4×TATC++
14077623-A-G 11956917-A-G F18436 YY++
22444605-C-A 20282719-C-A BY219440 DYZ19 ++
23990034-G-C 21843887-G-C Y44546Y44546 Y++
2657523-A-G 2789482-A-G Y38362 YY++
6763025-C-T 6894984-C-T Y38631 YY++
7219900-A-G 7351859-A-G Y38882 YY++
7220674-C-CA 7352633-C-CA 8×A++
8028689-A-G 8160648-A-G BY20125 YY++
8657468-T-C 8789427-T-C BY20549 YY++
8762611-G-A 8894570-G-A Y39772 YY++
9088386-A-G 9250777-A-G Y39920 Y++
9142288-TAG-T 9304679-TAG-T +**
13662588-A-C 11506912-A-C BY87476 ++
13806642-G-A 11685936-G-A BY90124 ++
13826386-TAATGGACTCGAATAG-T 11705680-TAATGGACTCGAATAG-T ++
13851321-C-T 11730615-C-T BY156372 ***+
13991667-T-TA 11870961-T-TA ++
14175824-C-T 12055118-C-T Y40325 YY++
14407983-C-T 12287281-C-T Y40508 YY++
14453078-A-G 12332351-A-G Y40526 YY++
14789637-T-C 12677708-T-C Y40661 YY++
15086559-T-C 12974649-T-C Y40817 YY++
15435661-G-C 13323781-G-C Y40979 YY++
15506264-T-C 13394384-T-C Y41018 YY++
15965901-G-A 13854021-G-A Y41261 YY++
16316190-T-A 14204310-T-A Y41405 YY++
16894300-G-T 14782420-G-T Y41730 YY++
17496209-T-A 15384329-T-A Y42045 YY++
17853865-G-A 15741985-G-A Y42234 YY++
17919251-G-A 15807371-G-A Y42280 YY++
18701396-A-G 16589516-A-G Y42638 YY++
18982298-G-T 16870418-G-T Y42781 YY++
19314543-G-A 17202663-G-A BY128176 YY++
20828943-G-A 18667057-G-A Y43133 P4_Gap ++
21687748-G-T 19525862-G-T Y43482 YY++
21855114-G-A 19693228-G-A Y43575 YY++
22272156-T-A 20110270-T-A BY215328 DYZ19 +
22479994-T-C 20318108-T-C BY224354 DYZ19 ++
22720228-T-C 20558342-T-C Y43917 YY++
22763845-C-T 20601959-C-T Y43938 YY++
23242103-T-C 21080217-T-C Y44221 YY++
23730833-A-T 21568947-A-T Y44460 ++
23972086-T-A 21825939-T-A Y44533 Y++
24410574-T-C 22264427-T-C Y44576 Y++
17300521-A-T 15188641-A-T BY30545A7345 YFS033061 YY+
4640025-G-T 4771984-G-T FT80493 +
5201901-CCAGCCTGG-C 5333860-CCAGCCTGG-C +
9926894-A-G 10089285-A-G FT361713 Y+
10937895-C-T FT437321 +
14194753-C-T 12074047-C-T FT81882 YY+
17371198-A-G 15259318-A-G FT82040 YY+
18020415-T-G 15908535-T-G FT82071 Y+
21270117-T-A 19108231-T-A FT82158 Y+
22968078-C-T 20806192-C-T BY142116 YY+
28652959-A-G 26506812-A-G FT82298 +
22661493-ATGTGTG-A,ATG 20499607-ATGTGTG-A,ATG 26×TG*
6630726-G-A 6762685-G-A **
27990535-G-T 25844388-G-T P1_Y2 **
15427356-C-A 13315476-C-A **
17589665-C-T 15477785-C-T PF3240 **
5976705-CTA-C 6108664-CTA-C **
4654941-T-A 4786900-T-A FT927 11×A**
7750627-A-G 7882586-A-G K465 **
15558499-T-TAGATAGATAGACAGACAGAC 13446619-T-TAGATAGATAGACAGACAGAC 5×AGAC**
15940215-G-C 13828335-G-C **
17281409-C-A 15169529-C-A **
22235388-T-G 20073502-T-G FGC40403 DYZ19 *****
11005457-C-T **
4841339-G-T 4973298-G-T **
5992659-A-G 6124618-A-G **
15076344-A-T 12964434-A-T **
17777906-T-C 15666026-T-C **
19674524-T-G 17562644-T-G P5_Prx **
19730835-GTA-G 17618955-GTA-G P5_Prx **
19732420-C-A 17620540-C-A P5_Prx **
19865598-C-A 17753718-C-A P5_Prx **
28815240-A-G 26669093-A-G **
27232111-T-C,TTTTCTTTC 25085964-T-C,TTTTCTTTC P1_g3 18×TTTC***
26025621-CTT-C 23879474-CTT-C P1_Y1 15×T***
13834075-A-T 11713369-A-T ***
9952291-G-A 10114682-G-A ***
9952378-C-CT 10114769-C-CT ***
13137994-C-T 10627480-C-T ***
13447701-T-C 11292025-T-C ***
9991604-G-A 10153995-G-A ***
17319971-G-GAGAAAGAAAGAA 15208091-G-GAGAAAGAAAGAA 13×AGAA***
13813579-T-TTCGAATGGAA 11692873-T-TTCGAATGGAA ***
13865744-G-T 11745038-G-T ***
13834026-A-G 11713320-A-G ***
22283725-T-G 20121839-T-G DYZ19 ***
13834026-AGTATG-A 11713320-AGTATG-A ***
22280504-G-T 20118618-G-T BY9001 DYZ19 ***
6233726-TCACA-T 6365685-TCACA-T IR3_Dst 13×CA***
6341603-G-A 6473562-G-A ***
7832170-C-CTCTTTCTTTCTT 7964129-C-CTCTTTCTTTCTT 12×TCTT***
8333457-G-A 8465416-G-A ***
9305923-G-T 9468314-G-T ***
13834042-G-C 11713336-G-C ***
20021056-C-T 17909176-C-T P5_Prx ***
22255714-G-C 20093828-G-C DYZ19 ***
22317438-A-T 20155552-A-T DYZ19 ***
22429716-G-C 20267830-G-C DYZ19 ***
24274001-CAA-C 22127854-CAA-C P3_b1 11×A***
24965307-T-C 22819160-T-C g1 ***
13464965-CT-C,CC 11309289-CT-C,CC ***
21464536-CA-C,CAA 19302650-CA-C,CAA 19×A***
3942640-AT-A 4074599-AT-A 10×T***
2810366-AT-A,A 2942325-AT-A,A 23×T***
23633371-CTTTT-C,CTTTTT 21471485-CTTTT-C,CTTTTT 21×T***
4377969-CT-C,CTT 4509928-CT-C,CTT 19×T***
56880151-AAA-G ***
4432630-C-CT 4564589-C-CT ***
7296882-A-G 7428841-A-G ***
8369432-C-T 8501391-C-T ***
9125492-G-A ***
14590614-A-G 12478814-A-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.