Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > Z39589 > Z251/S470 > S11556 > BY82274

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
587818
5561397-A-G 5693356-A-G A+
4780161-C-CA 4912120-C-CA 10×AA*
6238946-G-C 6370905-G-C IR3_Dst A*
24241355-C-T 22095208-C-T P3_b1 A*
19950281-C-T 17838401-C-T P5_Prx A*
20728798-A-G 18566912-A-G P4_Prx A*
18377053-G-A 16265173-G-A P6_Prx A*
18274191-C-T 16162311-C-T P6_Prx A*
24352036-A-T 22205889-A-T P3_t1 A*
25965532-A-C 23819385-A-C P1_Y1 A*
26340189-G-A 24194042-G-A P1_Y1 A*
10758734-C-T +
10803511-C-A +
21731394-G-T 19569508-G-T FT25620 YY+
21930576-A-C 19768690-A-C FT25782 YY+
9871535-A-C 10033926-A-C FT20584 YY+
19460733-T-C 17348853-T-C FT24999 YY+
22190216-T-A 20028330-T-A FT25965 YY+
9446994-G-A 9609385-G-A FT20409 YY+
13865494-C-T 11744788-C-T FT20740 +
14036497-G-T 11915791-G-T FT20976 YY+
19221215-C-A 17109335-C-A FT24777 YY+
14061731-ACT-A 11941025-ACT-A +
16440789-G-A 14328909-G-A FT22718 YY+
18110333-C-T 15998453-C-T BY55041 YY+
18028318-C-T 15916438-C-T FT23986 Y+
17969948-T-C 15858068-T-C FT23944 YY+
17906213-A-T 15794333-A-T FT23876 YY+
17705166-GAT-G 15593286-GAT-G +
16987309-A-G 14875429-A-G FT23137 Y+
16248405-C-T 14136525-C-T FT22550 YY+
14116789-C-T 11996083-C-T FT21068 YY+
18844014-G-A 16732134-G-A FT24484 YY+
15549115-G-A 13437235-G-A FT22116 YY+
15518905-GCTA-G 13407025-GCTA-G +
15366247-C-T 13254367-C-T FT21978 Y+
9416351-G-A 9578742-G-A FT20389 YY+
14791044-T-C 12679115-T-C FT21628 YY+
9435808-A-C 9598199-A-C FT20398 YY+
9132557-CTG-C 9294948-CTG-C +
18185475-C-A 16073595-C-A FT24146 Y+
5569379-G-A 5701338-G-A FT17722 +
23952581-G-A 21806434-G-A Y22874 +
28698544-C-CT 26552397-C-CT +
23570868-T-C 21408982-T-C BY146383 YY+
19121981-A-G 17010101-A-G FT10445 YY+
22701233-C-A 20539347-C-A FT26107 YY+
22657447-T-C 20495561-T-C FT26083 YY+
22554644-C-T 20392758-C-T BY183649 YY+
2996122-A-G 3128081-A-G FT14782 +
3054865-G-A 3186824-G-A FT14855 +
3447619-A-G 3579578-A-G FT15292 +
3576823-T-C 3708782-T-C FT15449 +
4213656-G-A 4345615-G-A FT16212 +
4464286-GA-G 4596245-GA-G +
7210824-G-A 7342783-G-A Y+
8871602-T-C 9003561-T-C FT20198 Y+
22461721-G-A 20299835-G-A DYZ19 +
6426653-G-A 6558612-G-A FT18474 +
6760865-C-G 6892824-C-G FT18738 YY+
22437977-T-A 20276091-T-A DYZ19 +
7210817-C-A 7342776-C-A Y+
7315382-CT-C 7447341-CT-C +
7732509-G-C 7864468-G-C FT19392 YY+
8440152-G-A 8572111-G-A FT19876 YY+
3720346-T-C 3852305-T-C *
28789480-AGAATGGAGTG-A 26643333-AGAATGGAGTG-A *
18264100-A-G 16152220-A-G *
10678557-C-G *
20536-C-T **
22469400-A-G 20307514-A-G DYZ19 **
22469409-C-T 20307523-C-T DYZ19 **
22469425-A-T 20307539-A-T DYZ19 **
22436568-T-G 20274682-T-G DYZ19 **
22241333-C-A 20079447-C-A DYZ19 **
13551473-C-A 11395797-C-A **
17551434-T-TA 15439554-T-TA **
17164750-G-T 15052870-G-T **
22241332-T-A 20079446-T-A DYZ19 **
4993786-A-ATG 5125745-A-ATG 10×TG**
10801667-C-G FT44709 **
13457738-T-TTCAAGTTGAA 11302062-T-TTCAAGTTGAA **
26344406-C-A 24198259-C-A P1_Y1 **
20019205-TC-T 17907325-TC-T P5_Prx **
27952091-GTATATATATATATATA-G 25805944-GTATATATATATATATA-G P1_Y2 19×TA**
19790189-G-T 17678309-G-T P5_Prx **
3543920-A-G 3675879-A-G **
5305509-G-A 5437468-G-A **
5980287-G-A 6112246-G-A **
6335209-A-G 6467168-A-G IR3_Dst **
7095071-G-T 7227030-G-T **
9361079-CA-C 9523470-CA-C **
16000279-G-T 13888399-G-T **
14819666-ATTTTTTTCT-A 12707733-ATTTTTTTCT-A **
13242764-C-T 11087088-C-T **
20537-T-C **
10622123-C-T **
9753975-C-CT 9916366-C-CT 20×T**
9361091-C-T 9523482-C-T **
10987868-CCACTCCATTCCATTCCATTCCACTC-C,CCACTCCATTCCATTCCATTCCACTG ***
2666449-T-TACAC 2798408-T-TACAC 13×AC***
13475868-A-G 11320192-A-G ***
13475873-G-A 11320197-G-A ***
13475877-C-T 11320201-C-T ***
17093-T-C ***
22287333-C-CA 20125447-C-CA DYZ19 ***
21775158-C-T 19613272-C-T ***

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: 5878181503715394237518333819
Used in age calculations1503715394237518333819
Counts of SNPs3328
Variant counts last updated 2019-10-28 04:09:41.



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