Tree Position

R-P312/S116 > Z290 > L21/S145 > A7905 > BY152667

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 STRBigY2
B193523
26250800-G-A 24104653-G-A P1_Y1 A*
19870013-G-T 17758133-G-T P5_Prx A*
18355577-T-C 16243697-T-C P6_Prx A*
6309077-C-T 6441036-C-T IR3_Dst A*
24477079-C-T 22330932-C-T Y+
22479945-G-A 20318059-G-A BY224343 DYZ19 +
22462258-T-A 20300372-T-A BY220849 DYZ19 +
23468106-G-A 21306220-G-A BY155617 YY+
13717183-C-T 11561507-C-T BY153420 +
18840990-A-G 16729110-A-G BY154730 YY+
13802558-G-A 11681852-G-A BY153429 +
18957076-T-C 16845196-T-C BY154768 YY+
9938062-A-C 10100453-A-C BY153238 Y+
19414253-G-T 17302373-G-T BY154892 YY+
22446764-T-G 20284878-T-G BY219885 DYZ19 +
7123760-C-T 7255719-C-T BY152538 Y+
22298136-C-T 20136250-C-T DYZ19 +
17352347-G-A 15240467-G-A Z5930 YY+
21896707-G-A 19734821-G-A BY155158 YY+
2907595-A-G 3039554-A-G BY152350 YY+
21810122-C-T 19648236-C-T FGC79705 YY+
15978483-T-C 13866603-T-C BY154020 YY+
7817300-A-G 7949259-A-G BY152723 YY+
22340382-G-T 20178496-G-T BY171900 DYZ19 *
11658181-T-G **
11660312-G-T **
11668661-A-G **
13961408-A-T 11840702-A-T **
14121402-T-C 12000696-T-C **
14121406-T-A 12000700-T-A **
11658166-T-G **
14121409-T-A 12000703-T-A **
14366212-C-A 12245507-C-A **
11658085-A-C **
14099412-C-T 11978706-C-T A12016A12016 **
13198719-T-G 11043043-T-G **
10940408-T-TTCTAC **
10843676-C-T **
10843682-A-T **
10843717-A-G **
10856672-C-G **
10905941-A-C **
58996041-G-C 56849894-G-C **
10933092-G-GCAATGT **
10933108-T-C **
10945911-T-G **
11015203-T-A **
10949395-T-C **
10950033-T-C **
10967766-T-G **
10971305-C-A **
11003682-C-A **
11005523-C-TA **
11015185-C-A **
15271028-A-G 13159117-A-G **
15271013-C-T 13159102-C-T **
17538466-G-T 15426586-G-T **
15271035-C-T 13159124-C-T **
26043519-C-A 23897372-C-A P1_Y1 **
23061121-A-C 20899235-A-C **
23395588-G-T 21233702-G-T **
23412276-G-T 21250390-G-T **
23522431-T-A 21360545-T-A **
23544898-C-T 21383012-C-T **
24369519-A-G 22223372-A-G **
24402020-C-A 22255873-C-A FT51681 **
28500320-A-T 26354173-A-T **
22710641-T-TAA 20548755-T-TAA 10×A**
28558971-T-C 26412824-T-C **
28586572-T-C 26440425-T-C FT178068 **
28596906-G-T 26450759-G-T **
28711545-G-GGTGTGT 26565398-G-GGTGTGT 21×GT**
28742030-G-A 26595883-G-A **
56838806-A-T **
56872955-A-G **
22919361-C-A 20757475-C-A **
22575143-C-A 20413257-C-A **
15689245-C-A 13577365-C-A **
17596832-TTCTC-T 15484952-TTCTC-T **
15761335-T-C 13649455-T-C **
15993762-T-C 13881882-T-C **
16598561-G-T 14486681-G-T **
17104012-C-T 14992132-C-T **
17159780-G-T 15047900-G-T **
17491876-C-A 15379996-C-A **
10826534-A-G **
18737585-G-A 16625705-G-A **
22239066-G-A 20077180-G-A DYZ19 **
19313666-T-C 17201786-T-C **
19316052-G-C 17204172-G-C **
19406318-T-A 17294438-T-A **
20213048-T-C 18051162-T-C BY202222 P5_Dst **
21138783-A-C 18976897-A-C **
21185709-C-T 19023823-C-T **
21196451-A-G 19034565-A-G **
21318342-T-G 19156456-T-G **
10826563-C-G **
10933085-T-A **
10826520-G-C **
10773696-GTTCCA-G **
10899059-C-G **
11017433-C-A **
13254603-GTT-G 11098927-GTT-G 11×T**
10882706-C-T **
2787392-T-A 2919351-T-A **
10843712-A-C **
10882702-A-T **
22316380-C-G 20154494-C-G DYZ19 **
20579292-C-T 18417406-C-T P5_Dst **
10826519-G-T **
10826501-A-T **
56849962-C-G **
10974623-C-A **
10754973-A-C **
7231551-C-A 7363510-C-A **
18780120-C-A 16668240-C-A **
10843711-C-T **
10899045-C-G **
10989110-A-G **
18756798-GTTTTT-G 16644918-GTTTTT-G 19×T**
56858152-C-A **
18989814-C-A 16877934-C-A **
18872082-TCTTC-T 16760202-TCTTC-T 5×CTTC**
14121412-A-G 12000706-A-G **
22235181-C-T 20073295-C-T DYZ19 **
10940366-C-A **
10662072-G-T **
10879866-C-A **
10843732-A-T **
23801675-A-G 21639789-A-G **
10976016-C-A **
10921893-C-A **
10760424-C-A **
10769402-T-A **
6329429-C-A 6461388-C-A IR3_Dst **
8163009-C-A 8294968-C-A **
10826549-T-A **
14950411-A-AT 12838485-A-AT 10×T**
5869981-TC-A 6001940-TC-A **
30170-TG-T **
10931763-C-A **
6134344-G-A 6266303-G-A **
7340915-T-C 7472874-T-C **
18737589-A-G 16625709-A-G **
8151176-A-G 8283135-A-G **
8167056-G-T 8299015-G-T **
7321917-A-G 7453876-A-G **
8216196-A-G 8348155-A-G **
8913450-CCAGAAGGAAA-C 9045409-CCAGAAGGAAA-C **
7131950-C-A 7263909-C-A **
8973183-G-A 9135574-G-A **
9093400-T-G 9255791-T-G **
6312046-A-C 6444005-A-C IR3_Dst **
6312041-A-C 6444000-A-C IR3_Dst **
7385724-C-A 7517683-C-A **
7648969-G-A 7780928-G-A **
9994603-G-A 10156994-G-A **
10826496-A-C **
10671439-TCACTC-T **
3018699-G-T 3150658-G-T **
10769863-T-G **
10826461-T-G **
10783138-T-G **
5543851-G-T 5675810-G-T **
10809144-A-T **
10809079-A-C **
28596934-C-A 26450787-C-A ***
22962303-C-A 20800417-C-A ***
16288096-T-A 14176216-T-A S2006 M12465 ***
23025216-C-A 20863330-C-A ***
23514561-T-TTC 21352675-T-TTC ***
28596924-CAA-C 26450777-CAA-C ***
8369376-TTTA-T 8501335-TTTA-T 8×TTA***
17859440-C-A 15747560-C-A ***
23856932-G-A 21695046-G-A ***
23858684-C-CA 21696798-C-CA 9×A***
24359441-G-GAA 22213294-G-GAA 10×A***
11025431-A-C,T ***
9399776-T-C 9562167-T-C ***
13254796-G-GTT 11099120-G-GTT 12×T***
22834711-C-A 20672825-C-A ***
15126547-C-A 13014634-C-A ***
8874970-CTTT-C,CTT 9006929-CTTT-C,CTT 17×T***
15778507-T-C 13666627-T-C ***
15018939-GT-G,GTT 12907028-GT-G,GTT 15×T***
8843536-ATTTT-A,AT 8975495-ATTTT-A,AT 23×T***
12869906-TTTCCTTCCTTCCTTCCTTCC-T 14×TTCC***
22650288-C-A 20488402-C-A ***
14766406-CTT-C,CTTT 12654475-CTT-C,CTTT 13×T***
17196624-G-A 15084744-G-A ***
14729689-TA-T,TAA 12617757-TA-T,TAA 12×A***
14604590-CTTT-C,CT 12492792-CTTT-C,CT 21×T***
56835863-C-A ***
3961157-C-A 4093116-C-A ***
13850535-C-A 11729829-C-A ***
7360411-T-C 7492370-T-C ***
9400643-AT-A,ATT 9563034-AT-A,ATT 13×T***
19284009-GTATGGTATGG-G,GTATGCTATGC 17172129-GTATGGTATGG-G,GTATGCTATGC ***
6434773-C-A 6566732-C-A ***
20803524-TCATATTACTATTAA-T 18641638-TCATATTACTATTAA-T P4_Gap ***
6863818-CTTTT-C,CTTTTT 6995777-CTTTT-C,CTTTTT 21×T***
10987744-C-A ***
21468272-C-A 19306386-C-A ***
21691550-A-G 19529664-A-G ***
7158392-C-A 7290351-C-A ***
18162897-CT-C,CTT 16051017-CT-C,CTT 13×T***
8658728-G-A 8790687-G-A ***
7321465-CAAA-C 7453424-CAAA-C 13×A***
8742535-GT-G 8874494-GT-G 10×T***
18397183-C-A 16285303-C-A P6_Gap ***

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: B193523896121973556597293780
Used in age calculations896121973556597293780
Counts of SNPs1211
Variant counts last updated 2019-11-12 02:42:29.



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