Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > S14469 > FGC8158 > Y61423

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
444385
24553539-C-G 22407392-C-G Y2411 F3672 Z29058 P3_t2 +
21862684-A-C 19700798-A-C BY66411 FT285982 Y15986PF3816 M1460 YY+
8631875-C-A 8763834-C-A S7180PF1557 M5419 YY10×A+
8223515-G-A 8355474-G-A Y9641 Z8835 YY+
2883672-G-C 3015631-G-C Y60435 YY+
3078622-G-T 3210581-G-T BY39267 +
4740590-A-T 4872549-A-T BY53524 +
6128738-A-G 6260697-A-G +
6238448-G-A 6370407-G-A IR3_Dst +
6845484-C-T 6977443-C-T Y61054 YY+
7229910-C-T 7361869-C-T Y61739 YY+
7839454-A-G 7971413-A-G Y62668 YY+
8053787-G-C 8185746-G-C Y63036 YY+
8198474-C-A 8330433-C-A Y63275 YY+
8488338-T-C 8620297-T-C Y63897 YY+
8778431-C-T 8910390-C-T Y64478 YY+
8795028-G-A 8926987-G-A Y64510 YY+
8848797-C-A 8980756-C-A Y64602 YY+
9454808-A-G 9617199-A-G Y65093 YY+
13717250-C-T 11561574-C-T BY39270 +
14529301-G-A 12417502-G-A Y66853 YY+
14755077-A-G 12643146-A-G Y67171 YY+
15653991-A-G 13542111-A-G Y68602 YY+
15736633-A-C 13624753-A-C Y68771 YY+
16298634-C-G 14186754-C-G Y69616 YY+
16872807-A-T 14760927-A-T Y70656 YY+
16954190-A-G 14842310-A-G Y70788 YY+
17113797-GA-G 15001917-GA-G +
17252005-T-C 15140125-T-C Y71324 YY+
17437793-C-CT 15325913-C-CT 10×T+
17685487-G-T 15573607-G-T Y72150 YY+
18257039-C-T 16145159-C-T Y73383 +
22443006-TC-T 20281120-TC-T DYZ19 +
22483709-C-T 20321823-C-T BY224512 DYZ19 +
22584002-T-C 20422116-T-C Y78280 YY+
23022923-A-G 20861037-A-G Y79063 YY+
23059949-G-A 20898063-G-A Y79151 YY+
23768966-C-G 21607080-C-G Y80326 Y+
23782864-G-T 21620978-G-T Y80348 Y+
23860479-AT-A 21698593-AT-A 9×T+
23967967-A-G 21821820-A-G Y80462 Y+
25297014-T-G 23150867-T-G P2_r1 +
3152262-ATTTTATTTTAT-A 3284221-ATTTTATTTTAT-A **
4841635-T-TG 4973594-T-TG BY11901 **
13507384-T-C 11351708-T-C BY86317 **
13605676-C-A 11450000-C-A **
13806181-A-T 11685475-A-T ***
24099173-C-T 21953026-C-T P3_b1 ***
10019581-TTTTTC-T,TT 10181972-TTTTTC-T,TT ***
6205741-T-C 6337700-T-C BY53553 FGC31083 IR3_Dst ***
6242687-C-T 6374646-C-T IR3_Dst ***
9627684-G-A 9790075-G-A IR3_Prx ***
13743182-A-G 11587506-A-G ***
13846476-T-A 11725770-T-A ***
20621955-C-T 18460069-C-T P4_Prx ***
20653419-TCAATA-T 18491533-TCAATA-T P4_Prx ***
20653425-A-G 18491539-A-G P4_Prx ***
22247751-TT-A 20085865-TT-A DYZ19 ***
22253644-C-G 20091758-C-G DYZ19 ***
22275053-C-T 20113167-C-T DYZ19 ***
22277473-C-A 20115587-C-A FGC34378 DYZ19 ***
22280361-G-A 20118475-G-A DYZ19 ***
22283877-G-A 20121991-G-A DYZ19 ***
22296760-G-C 20134874-G-C DYZ19 ***
22509856-G-T 20347970-G-T BY53394 DYZ19 ***
24293259-C-T 22147112-C-T P3_t1 ***
24974528-G-T 22828381-G-T g1 ***
25203174-C-T 23057027-C-T g1 ***
25246280-CTCT-C 23100133-CTCT-C P2_r1 5×TCT***
25589920-A-AG 23443773-A-AG P1_gr1 ***
25863082-C-T 23716935-C-T P1_Y1 ***
25946588-ATCTT-A 23800441-ATCTT-A P1_Y1 ***
26096485-G-A 23950338-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.