Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z258 > Z367/S255 > L20/S144 > Z46420 > S16553 > A17627 > Y139277

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
909391
9515091-C-G 9677482-C-G A+
9539569-C-A 9701960-C-A IR3_Prx A+
9583597-A-G 9745988-A-G IR3_Prx A+
28019179-A-G 25873032-A-G P1_Y2 A+
7542441-A-AT 7674400-A-AT Z17970 9×TA*
13843752-A-G 11723046-A-G A*
28817717-G-A 26671570-G-A A*
58976927-C-T 56830780-C-T A*
13463702-C-T 11308026-C-T A*
13489964-C-A 11334288-C-A A*
13489960-C-T 11334284-C-T A*
6286772-T-C 6418731-T-C IR3_Dst A*
6330811-G-T 6462770-G-T IR3_Dst A*
18293915-G-A 16182035-G-A P6_Prx A*
19690434-T-A 17578554-T-A P5_Prx A*
20753119-C-G 18591233-C-G P4_Prx A*
22276811-A-C 20114925-A-C DYZ19 A*
24256593-G-A 22110446-G-A P3_b1 A*
25943196-T-C 23797049-T-C P1_Y1 A*
26167544-T-G 24021397-T-G P1_Y1 A*
56829758-T-C A*
22461262-G-T 20299376-G-T FGC6237 DYZ19 +
16051161-CCTCCCCTCCCCAAAT-C 13939281-CCTCCCCTCCCCAAAT-C +
16426541-G-A 14314661-G-A FT30267 Y+
2963522-T-C 3095481-T-C FT234950 +
5400982-C-T 5532941-C-T FT235591 +
6454769-C-T 6586728-C-T FT93054 +
6756419-T-C 6888378-T-C FT93069 Y+
6966318-AC-A 7098277-AC-A +
7555853-A-G 7687812-A-G FT236013 YY+
7708761-G-T 7840720-G-T FT93093 YY+
8100123-A-G 8232082-A-G FT236114 YY+
10841203-A-G FT268756 +
13502773-G-A 11347097-G-A FT444468 +
13652243-G-A 11496567-G-A FT447247 +
13672949-A-G 11517273-A-G BY87902 +
13854557-C-T 11733851-C-T FT93128 +
13926176-A-G 11805470-A-G FT236435 Y+
14287179-G-T 12166473-G-T BY94581 YY+
14406623-T-C 12285921-T-C FT236587 YY+
15317653-C-T 13205759-C-T FT93209 YY+
17192251-T-C 15080371-T-C YY+
17247622-C-G 15135742-C-G FT237114 Y+
17660564-G-T 15548684-G-T FT237228 YY+
17810214-A-C 15698334-A-C BY117562 YY+
18760257-T-C 16648377-T-C FT237418 YY+
19182104-AG-A 17070224-AG-A +
19334393-T-C 17222513-T-C YY+
21953863-G-A 19791977-G-A BY136656 YY8×A+
22479252-G-A 20317366-G-A BY224195 DYZ19 +
22483395-G-T 20321509-G-T FT460410 DYZ19 +
23004949-G-T 20843063-G-T FT237964 Y+
23984521-C-G 21838374-C-G FT238130 Y+
23984522-C-T 21838375-C-T FT238131 Y+
6614532-A-ATG 6746491-A-ATG 13×TG*
5728904-C-CAG 5860863-C-CAG 12×AG*
4834393-T-C 4966352-T-C *
4401335-G-A 4533294-G-A *
4475135-C-A 4607094-C-A *
10668599-T-C *
10785628-T-TTCCAC *
22233286-C-T 20071400-C-T BY213533 DYZ19 *
22278708-T-C 20116822-T-C DYZ19 *
28792189-G-C 26646042-G-C *
14418189-ATG-A 12297464-ATG-A **
14761147-T-C 12649216-T-C Z46139 BY41383 **
13717275-AGAATG-A 11561599-AGAATG-A 8×GAATG**
13612982-CAT-C 11457306-CAT-C **
20652995-CAAAA-C 18491109-CAAAA-C P4_Prx 18×A**
16747431-CT-C 14635551-CT-C 9×T**
17319944-A-G 15208064-A-G FT452074 **
18355099-T-TC 16243219-T-TC P6_Prx **
3436288-G-T 3568247-G-T FT91841FT77848 **
6521558-T-G 6653517-T-G FT93064 **
7360187-A-G 7492146-A-G **
3204712-A-G 3336671-A-G **
3557141-T-C 3689100-T-C **
4196960-G-A 4328919-G-A **
7058624-G-C 7190583-G-C **
10066084-C-T 10228475-C-T FTA55210 **
13371585-C-T 11215909-C-T **
13501855-T-C 11346179-T-C **
13513338-A-T 11357662-A-T **
16398427-G-T 14286547-G-T **
19713343-G-GTT 17601463-G-GTT P5_Prx 11×T**
21914269-C-T 19752383-C-T **
25509003-GTT-G 23362856-GTT-G P1_gr1 14×T**
28617762-T-C 26471615-T-C FT93478 **
15557033-C-CAA 13445153-C-CAA 18×A***
6948092-G-GTT 7080051-G-GTT 31×T***
9522058-CTA-C 9684449-CTA-C ***
13478944-G-T 11323268-G-T ***
10991236-G-GTTCCA ***
21043004-T-C 18881118-T-C ***
13466021-C-T 11310345-C-T ***
15108916-CTTT-C,CTT 12997003-CTTT-C,CTT 15×T***
3837722-CAA-C 3969681-CAA-C 13×A***
22165202-CAA-C 20003316-CAA-C 28×A***
5785654-TAAAAA-T 5917613-TAAAAA-T 24×A***
22737231-CAAAAAAAA-C 20575345-CAAAAAAAA-C 18×A***
13463263-C-T 11307587-C-T ***
18060382-ATG-A,ATC 15948502-ATG-A,ATC ***
7108649-T-C 7240608-T-C ***
13470520-T-A 11314844-T-A ***
21940393-C-CAA 19778507-C-CAA 17×A***
13448404-C-A 11292728-C-A ***
2856782-CT-C,CTT 2988741-CT-C,CTT 24×T***
13608647-CAA-C,CA 11452971-CAA-C,CA 27×A***
3732952-CTTT-C,CTTTT 3864911-CTTT-C,CTTTT 14×T***
6664477-A-T 6796436-A-T ***
6779060-C-A 6911019-C-A ***
7131837-T-C 7263796-T-C ***
7344209-T-C 7476168-T-C ***
8751197-A-G 8883156-A-G ***
13462547-C-CTT 11306871-C-CTT ***
13516382-TA-T 11360706-TA-T ***
14738577-T-C 12626645-T-C ***
14764914-ATTTTTT-A,ATTTTTTT 12652983-ATTTTTT-A,ATTTTTTT 23×T***
16943498-T-C 14831618-T-C ***
21208790-C-T 19046904-C-T ***
21949327-GT-G 19787441-GT-G ***
22224911-C-T 20063025-C-T BY213054 DYZ19 ***
23101130-G-A 20939244-G-A ***
23101144-G-T 20939258-G-T ***
24388291-C-T 22242144-C-T ***
24388292-C-T 22242145-C-T ***
28701443-A-G 26555296-A-G ***

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.