Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > Z39589 > L1335/S530 > L1065 > Z16325 > S744 > S764 > ZZ28

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 STRBigY3
B414085
6330225-A-AAC 6462184-A-AAC IR3_Dst 14×ACA*
20500426-C-G 18338540-C-G P5_Dst A*
18315745-A-C 16203865-A-C P6_Prx A*
28816652-A-C 26670505-A-C A*
13451300-T-A 11295624-T-A A*
16104022-G-A 13992142-G-A P8_Prx A*
18315747-A-C 16203867-A-C P6_Prx A*
19679351-G-C 17567471-G-C P5_Prx A*
19881611-A-G 17769731-A-G P5_Prx A*
19951551-G-A 17839671-G-A P5_Prx A*
56832547-C-T A*
20791895-T-A 18630009-T-A P4_Prx A*
58977225-A-T 56831078-A-T A*
58980339-T-C 56834192-T-C A*
13488714-C-T 11333038-C-T A*
28580784-T-C 26434637-T-C CTS12350 A*
13451204-T-C 11295528-T-C A*
26079964-C-T 23933817-C-T P1_Y1 A*
7768212-T-C 7900171-T-C FT266178 YY+
20778781-T-G 18616895-T-G P4_Prx 18×TG+
3652224-A-G 3784183-A-G FT265398 +
3835951-G-T 3967910-G-T FT27778 +
5514611-C-G 5646570-C-G FT28446 +
6044221-C-T 6176180-C-T FT28664 +
6382818-A-C 6514777-A-C FT28706 +
7660542-G-T 7792501-G-T FT266152 YY+
14681928-G-A 12569994-G-A FT266767 Y+
8452226-A-C 8584185-A-C FT266305 YY+
22272902-G-C 20111016-G-C FT454538 DYZ19 +
15714963-G-T 13603083-G-T FT30093 YY+
16073154-T-C 13961274-T-C FT204755 Y+
16290409-C-T 14178529-C-T FT30219 YY+
23811434-G-T 21649548-G-T FT31729 Y+
17020679-CAG-C 14908799-CAG-C +
17118338-C-A 15006458-C-A FT30437 YY+
17566852-T-C 15454972-T-C FT267306 YY+
23788598-C-CG 21626712-C-CG +
16959765-G-T 14847885-G-T FT30398 YY+
5995539-C-T 6127498-C-T FT265906 +
28799514-G-C 26653367-G-C FT303174 +
7150269-C-A 7282228-C-A FT28897 Y+
13448608-CCACTT-C,CCACTG 11292932-CCACTT-C,CCACTG *
10860842-G-A,C *
20105742-T-TTATCTATCTATCTATC 17993862-T-TTATCTATCTATCTATC P5_Dst 14×TATC*
13865779-CGAATGGAATG-C 11745073-CGAATGGAATG-C 10×GAATG*
21620603-T-TATACA 19458717-T-TATACA *
10767865-G-C *
10629985-A-T **
28675570-C-T 26529423-C-T **
10073790-T-C 10236181-T-C **
9949481-T-G 10111872-T-G **
14119947-C-T 11999241-C-T **
4167657-C-CAA 4299616-C-CAA 18×A**
13465892-G-T 11310216-G-T **
20013067-G-A 17901187-G-A P5_Prx **
7489183-GC-G 7621142-GC-G IR1_L **
18818593-G-C 16706713-G-C **
7241810-G-T 7373769-G-T **
14303165-A-G 12182459-A-G **
28411084-C-A 26264937-C-A P1_gr2 **
29689-C-T **
26199615-G-GCA 24053468-G-GCA P1_Y1 **
4474248-T-TTA 4606207-T-TTA 8×TA**
15150508-A-C 13038595-A-C **
56707266-A-G **
27915182-G-GGA 25769035-G-GGA P1_Y2 **
14073093-A-G 11952387-A-G **
15288636-T-C 13176735-T-C **
18925139-C-G 16813259-C-G **
22151762-G-A 19989876-G-A **
15622403-T-C 13510523-T-C **
15622406-A-G 13510526-A-G **
19926955-CTTT-C 17815075-CTTT-C P5_Prx 23×T**
23522479-T-C 21360593-T-C **
18042895-A-G 15931015-A-G **
25506357-A-G 23360210-A-G P1_gr1 **
25521866-GT-G 23375719-GT-G P1_gr1 **
13475489-T-C 11319813-T-C ***
21464283-A-G 19302397-A-G ***
28600983-AT-A,ATT 26454836-AT-A,ATT 17×T***
9023045-G-GT 9185436-G-GT 9×T***
20516381-A-T 18354495-A-T P5_Dst ***
21227375-CTTTT-C 19065489-CTTTT-C 22×T***
21620563-T-C 19458677-T-C ***
21620603-T-A 19458717-T-A ***
21746459-G-A 19584573-G-A ***
13465905-A-G 11310229-A-G ***
22841296-A-G 20679410-A-G ***
28492689-CAAAA-C 26346542-CAAAA-C 18×A***
23364087-CAAAAA-C 21202201-CAAAAA-C 16×A***
17446767-CTT-C 15334887-CTT-C 33×T***
13465859-G-A 11310183-G-A ***
16656745-G-A 14544865-G-A ***
13465878-A-C 11310202-A-C ***
17648536-ATT-A,AT 15536656-ATT-A,AT 22×T***
13470617-G-T 11314941-G-T ***
7084539-A-G 7216498-A-G ***
13467628-A-C 11311952-A-C ***
15468678-CAA-C,CA 13356798-CAA-C,CA 23×A***
7075966-G-A 7207925-G-A ***
7075977-T-C 7207936-T-C ***
7075981-T-C 7207940-T-C ***
5178062-CAAAAAA-C 5310021-CAAAAAA-C 20×A***
13467622-T-C 11311946-T-C ***
6727562-G-GTT 6859521-G-GTT 14×T***
5275980-AAG-A 5407939-AAG-A ***
3503421-CAAA-C 3635380-CAAA-C 15×A***
21620593-C-T 19458707-C-T FGC60476 ***
12555882-CAAAA-C 24×A***
6605573-G-A 6737532-G-A ***
6750933-G-A 6882892-G-A ***
6998278-T-A 7130237-T-A ***
7460241-A-T 7592200-A-T IR1_L ***
7075962-G-A 7207921-G-A ***
7084547-G-A 7216506-G-A ***
9925478-C-T 10087869-C-T ***
13408246-A-G 11252570-A-G ***
14379909-C-A 12259205-C-A ***
13465852-C-G 11310176-C-G ***
13475589-C-G 11319913-C-G ***
6020688-GTT-G 6152647-GTT-G 23×T***
16409013-C-CTT 14297133-C-CTT 18×T***
14291367-C-A 12170661-C-A ***

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.

Age Analysis Information (work in progress)

AllMcDonaldYFull
Kit: B4140851490385593391418264747
Used in age calculations1490385593391418264747
Counts of SNPs119
Variant counts last updated 2021-03-04 02:54:33.



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