Servis

BigY3: B236866
MDKA Birth: United States > New Jersey

Tree Position

R-U106/S21 > Z2265 > Z381/S263 > Z301/S499 > L48 > L47/S170 > Z160 > S3251 > FGC8604 > ZZ66 > 16051814-C-A

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
B236866
9595565-G-A 9757956-G-A IR3_Prx A+
6334627-G-A 6466586-G-A IR3_Dst A*
22304895-C-T 20143009-C-T DYZ19 A*
19680587-G-A 17568707-G-A P5_Prx A*
19856443-T-C 17744563-T-C P5_Prx A*
20793951-C-T 18632065-C-T P4_Prx A*
22232865-C-G 20070979-C-G BY22586 DYZ19 A*
26254579-G-A 24108432-G-A P1_Y1 A*
26379531-C-T 24233384-C-T P1_Y1 A*
56831738-T-C A*
6753295-C-T 6885254-C-T L670 YY+
18672746-T-A 16560866-T-A FGC15771 YY+
21927924-T-A 19766038-T-A Y31874Z8252 FGC7775 YY+
15168293-C-T 13056379-C-T FT1856 Y+
13826725-C-T 11706019-C-T BY90739 +
4146155-A-G 4278114-A-G FT27903 +
4187631-T-C 4319590-T-C FT27919 +
5423752-C-A 5555711-C-A FT28408 +
5794648-G-A 5926607-G-A FT28561 +
7213446-G-T 7345405-G-T FT28913 YY+
7260515-A-G 7392474-A-G FT28930 YY+
7732443-C-T 7864402-C-T BY67181 YY+
8088621-T-C 8220580-T-C BY69850 YY+
8754101-T-C 8886060-T-C FT29320 YY+
10623227-A-T FT427918 +
11017900-G-A FT393812 +
14489453-G-A 12368722-G-A BY96087 YY+
15817729-A-AT 13705849-A-AT 8×T+
17074637-GTTTTTTTTTTTTTTTTTT-G 14962757-GTTTTTTTTTTTTTTTTTT-G 34×T+
17335522-C-T 15223642-C-T FT30486 YY+
17563507-G-C 15451627-G-C FT30580 YY+
17673975-G-A 15562095-G-A FT30603 YY+
18612347-T-C 16500467-T-C BY122587 YY+
18631734-G-A 16519854-G-A FT30831 YY+
19218612-C-T 17106732-C-T FT30986 YY+
20063768-C-G 17951888-C-G FT452525 P5_Gap +
21207240-A-G 19045354-A-G FT31127 Y+
21482399-G-C 19320513-G-C FT31216 YY+
21943636-C-T 19781750-C-T FT31351 Y+
22192509-A-G 20030623-A-G BY138370 YY+
22294179-A-C 20132293-A-C FGC46513 BY9349 DYZ19 +
22463350-A-T 20301464-A-T FT458193 DYZ19 +
22849320-T-G 20687434-T-G FT31512 YY+
23129719-G-A 20967833-G-A FT31585 YY+
23153103-C-A 20991217-C-A FT31594 YY+
23330217-C-T 21168331-C-T FT31623 YY+
23464540-G-A 21302654-G-A FT31658 YY+
21752349-G-A FT31757 +
15278-C-A +
13830045-A-AAATGG 11709339-A-AAATGG 6×AATGG*
15019589-A-AT 12907678-A-AT *
17446781-T-G 15334901-T-G YY*
22340530-A-G 20178644-A-G DYZ19 *
56846048-C-T *
16099087-CTG-C 13987207-CTG-C P8_Prx 23×TG**
15971741-GTT-G 13859861-GTT-G **
24271377-A-AG 22125230-A-AG P3_b1 **
4226078-A-T 4358037-A-T **
5073541-G-C 5205500-G-C **
9384537-C-T 9546928-C-T **
9702867-AACACACACACACAC-A 9865258-AACACACACACACAC-A IR3_Prx 19×AC**
10903827-T-A **
14461470-A-G 12340743-A-G **
15298812-G-T 13186911-G-T **
15426580-A-AATAG 13314700-A-AATAG **
16997601-A-G 14885721-A-G **
18901359-C-G 16789479-C-G **
20761141-C-T 18599255-C-T P4_Prx **
21350885-C-A 19188999-C-A **
21634695-T-C 19472809-T-C **
22508975-A-G 20347089-A-G DYZ19 **
22623192-T-C 20461306-T-C **
24417042-GAA-G 22270895-GAA-G **
24417063-A-G 22270916-A-G **
24417082-A-C 22270935-A-C **
24417089-AGGAAGG-A 22270942-AGGAAGG-A **
26337105-T-C 24190958-T-C P1_Y1 **
26379409-AC-A 24233262-AC-A P1_Y1 **
23827542-CA-C,CAA 21665656-CA-C,CAA 17×A***
17323544-A-T 15211664-A-T ***
3341780-GT-G 3473739-GT-G 11×T***
7164467-CAAAAAA-C 7296426-CAAAAAA-C 24×A***
28370013-TATAG-T,TAGAG 26223866-TATAG-T,TAGAG P1_gr2 ***
10627584-CATCAT-C ***
4277259-G-A 4409218-G-A ***
4471003-CTTTTTTTTTTTT-C,CTTTTTTTTT 4602962-CTTTTTTTTTTTT-C,CTTTTTTTTT 29×T***
7142366-G-A 7274325-G-A ***
10041465-A-T 10203856-A-T ***
14122935-T-A 12002229-T-A ***
15420132-CAAA-C,CAA 13308252-CAAA-C,CAA 18×A***
17702214-A-G 15590334-A-G ***
24417055-A-AGG 22270908-A-AGG ***
24417059-A-G 22270912-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.