Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > BY4245 > BY3504 > 15984654-CAT-C > BY3478

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
N7090
6185889-T-C 6317848-T-C IR3_Dst A*
18284371-C-T 16172491-C-T P6_Prx A*
22007266-T-G 19845380-T-G YYA*
28817538-G-A 26671391-G-A A*
19676470-G-T 17564590-G-T P5_Prx A*
24306059-T-C 22159912-T-C P3_t1 A*
14116683-C-G 11995977-C-G FGC39522PF647 M9705 YY+
22026173-C-G 19864287-C-G Y108174 YY+
21618200-C-T 19456314-C-T FGC49662 YY+
7236021-C-T 7367980-C-T BY41613 YY+
7590123-G-A 7722082-G-A BY180302 YY+
8513157-C-T 8645116-C-T BY180371 YY+
8681014-G-A 8812973-G-A BY180383 YY+
9503558-G-C 9665949-G-C BY180421 +
9899016-T-G 10061407-T-G Y+
14169150-T-G 12048444-T-G BY180458 YY+
14401620-A-T 12280917-A-T BY180477 YY+
15194535-G-A 13082621-G-A BY180511 YY+
15975987-G-T 13864107-G-T BY180553 YY+
16183319-C-T 14071439-C-T BY180555 Y+
16879164-C-T 14767284-C-T BY180593 YY+
16897793-G-T 14785913-G-T BY180594 YY+
16949304-A-G 14837424-A-G BY180599 YY+
17031582-C-T 14919702-C-T BY16126 YY+
17190110-T-C 15078230-T-C BY180611 YY+
19502991-G-T 17391111-G-T BY180759 YY+
21426101-T-C 19264215-T-C BY180794 FT37925 YY+
22439014-C-T 20277128-C-T BY218626 DYZ19 +
22446434-G-T 20284548-G-T FT457118 DYZ19 +
27667-G-T +
22278701-T-A 20116815-T-A Z623 DYZ19 *
13867986-T-TAATGGAATGG 11747280-T-TAATGGAATGG 10×AATGG*
22318621-G-T 20156735-G-T DYZ19 *
22299091-G-C 20137205-G-C DYZ19 *
22422405-C-A 20260519-C-A DYZ19 *
28793479-T-A 26647332-T-A *
28793481-G-A 26647334-G-A *
13811157-T-A 11690451-T-A **
13811163-G-A 11690457-G-A **
16598984-C-CA 14487104-C-CA 25×A**
58976627-A-T 56830480-A-T **
10887992-C-T **
10867998-T-C **
10868006-A-T **
10868040-A-C **
56830531-A-T **
10663857-C-A **
10868015-C-A **
4212802-C-A 4344761-C-A **
56884392-G-T **
10798347-A-ATAT **
10812350-C-A **
28801659-G-GTGGAATGGAA 26655512-G-GTGGAATGGAA 8×TGGAA**
10887973-A-G **
21184609-C-A 19022723-C-A **
10682535-T-C **
10935532-C-CATTATATTAT **
10935560-T-C **
10999886-T-C **
10682496-C-A **
15167980-C-A 13056066-C-A **
10663297-C-A **
10833435-C-A **
56860680-T-TACAC 11×AC**
10682553-A-T **
5054986-G-T 5186945-G-T **
10682526-C-A **
15744091-C-A 13632211-C-A **
16929723-C-A 14817843-C-A **
10682593-A-G **
10682540-T-G **
13659456-C-A 11503780-C-A FT165160 **
2773710-AT-A 2905669-AT-A **
7154460-G-C 7286419-G-C FT137249 **
10030102-T-C 10192493-T-C **
10682581-C-CCA **
10868102-T-G **
13465999-G-A 11310323-G-A **
13472325-G-A 11316649-G-A **
13487452-G-A 11331776-G-A **
14809317-C-T 12697388-C-T **
15430423-A-G 13318543-A-G **
15712181-C-A 13600301-C-A **
19331767-A-G 17219887-A-G FT140178 **
21653849-A-G 19491963-A-G FT140542 **
22259755-C-T 20097869-C-T DYZ19 **
22259760-G-C 20097874-G-C DYZ19 **
22259765-A-T 20097879-A-T DYZ19 **
28577871-G-T 26431724-G-T **
58978576-T-C 56832429-T-C ***
58978510-T-C 56832363-T-C ***
58976696-C-T 56830549-C-T ***
18592167-CAAAAA-C 16480287-CAAAAA-C 18×A***
21923295-ATTT-A,ATT 19761409-ATTT-A,ATT 15×T***
11014432-A-C,T ***
8069959-AT-A,ATT 8201918-AT-A,ATT 19×T***
7166653-A-T 7298612-A-T ZQ650 ***
9823410-CGTGT-C 9985801-CGTGT-C 16×GT***
21262466-C-A 19100580-C-A ***
21237230-CAA-C,CA 19075344-CAA-C,CA 16×A***
14825125-CTTTTT-C 12713192-CTTTTT-C 20×T***
4136651-C-A 4268610-C-A ***
2859987-CTTTTT-C 2991946-CTTTTT-C 16×T***
23818217-G-T 21656331-G-T ***
7166736-G-T 7298695-G-T ***
22970282-CAAA-C,CA 20808396-CAAA-C,CA 27×A***
2860371-G-A 2992330-G-A ***
6130881-A-G 6262840-A-G ***
7073052-C-A 7205011-C-A ***
7166737-G-C 7298696-G-C ***
8281779-CAAA-C,CAAAAA 8413738-CAAA-C,CAAAAA 15×A***
11014393-A-AT ***
11014394-CT-C ***
13459398-C-A 11303722-C-A ***
13477952-C-A 11322276-C-A ***
15168583-C-A 13056669-C-A ***
15409572-T-C 13297692-T-C ***
18176816-T-C 16064936-T-C ***
18581203-C-A 16469323-C-A ***
19505638-C-T 17393758-C-T BY179592 ***
21211183-C-T 19049297-C-T ***
22149842-C-A 19987956-C-A ***
22200498-C-A 20038612-C-A ***
22301770-C-A 20139884-C-A DYZ19 ***
22965059-C-A 20803173-C-A ***
24673228-G-T 22527081-G-T P3_b2 ***

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.