Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12

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 STRFTDNA
283800
19111797-A-G 16999917-A-G Y55386 YY+
17216454-G-A 15104574-G-A Y52941 YY+
14812800-C-T 12700871-C-T Y49913 YY+
15200276-A-G 13088362-A-G Y50386 YY+
15280048-T-C 13168147-T-C Y50482 YY+
22474352-G-C 20312466-G-C DYZ19 +
15720248-AG-A 13608368-AG-A +
15979466-T-C 13867586-T-C Y51366 YY+
16787080-C-G 14675200-C-G Y52327 YY+
17167715-T-A 15055835-T-A Y52853 YY+
18124347-G-A 16012467-G-A Y54282 YY+
14612685-A-G 12500883-A-G YY+
18195356-T-G 16083476-T-G YY+
18564105-T-G 16452225-T-G Y54610 YY+
18916379-C-T 16804499-C-T Z19059 YY+
21560838-C-A 19398952-C-A Y56903 YY+
23237876-A-G 21075990-A-G Y58915 Y+
23060227-C-T 20898341-C-T A14140 YY+
22992157-T-C 20830271-T-C Y58550 YY+
22742611-T-A 20580725-T-A Y58223 YY+
14638445-T-C 12526514-T-C YY+
15496487-G-C 13384607-G-C Y50743 YY+
14348177-C-T 12227472-C-T Y49423 YY+
8319532-C-A 8451491-C-A Y47099 YY+
2906066-CA-C 3038025-CA-C +
3712371-C-T 3844330-C-T Y45032 +
4078026-T-A 4209985-T-A Y45052 +
6865225-G-C 6997184-G-C Y45388 YY+
7547116-G-T 7679075-G-T Y46099 YY+
14036986-T-A 11916280-T-A Y48908 YY+
7732636-A-G 7864595-A-G Y46335 YY+
8026084-A-G 8158043-A-G Y46740 YY+
22460856-T-A 20298970-T-A DYZ19 +
8400743-C-T 8532702-C-T Y47228 BY30997 YY+
8589587-C-G 8721546-C-G Y47581 BY30998 YY+
8727710-T-C 8859669-T-C Y47796 YY+
9041276-G-A 9203667-G-A Y48127 Y+
14033881-C-A 11913175-C-A Y48904 YY+
13799718-C-T 11679012-C-T FGC65693 +
18662286-CT-C 16550406-CT-C +
8480128-G-A 8612087-G-A Y47391 YY+
9927166-C-T 10089557-C-T **
24348967-T-C 22202820-T-C P3_t1 ***
22488253-A-G 20326367-A-G A4382 DYZ19 ***
22488257-G-C 20326371-G-C DYZ19 ***
25051430-C-T 22905283-C-T g1 ***
24751189-T-G 22605042-T-G P3_b2 ***
24953554-G-C 22807407-G-C g1 ***
25813584-C-A 23667437-C-A P1_b3 ***
25975129-C-G 23828982-C-G P1_Y1 ***
6347781-A-AG,G 6479740-A-AG,G ***
26220775-T-A 24074628-T-A P1_Y1 ***
26298428-C-T 24152281-C-T P1_Y1 ***
58977258-A-G 56831111-A-G ***
26314350-G-A 24168203-G-A P1_Y1 ***
13194857-C-T 11039181-C-T ***
22476550-G-C 20314664-G-C DYZ19 ***
22239878-C-A 20077992-C-A DYZ19 ***
9203832-C-G 9366223-C-G ***
13716573-A-T 11560897-A-T ***
18271882-C-T 16160002-C-T P6_Prx ***
24129607-C-T 21983460-C-T P3_b1 ***
20770288-T-C 18608402-T-C P4_Prx ***
20795059-G-A 18633173-G-A P4_Prx ***
22237374-A-C 20075488-A-C DYZ19 ***
22249569-G-T 20087683-G-T DYZ19 ***
22449997-G-A 20288111-G-A DYZ19 ***
22253911-T-C 20092025-T-C DYZ19 ***
22270543-G-A 20108657-G-A DYZ19 ***
22283155-T-C 20121269-T-C DYZ19 ***
22290888-T-C 20129002-T-C DYZ19 ***
22339443-A-T 20177557-A-T DYZ19 ***
22424857-A-T 20262971-A-T DYZ19 ***
22426166-CT-C 20264280-CT-C DYZ19 ***
22430368-T-G 20268482-T-G DYZ19 ***
19436760-GAGAGAGAA-G,GAGAAAGAA 17324880-GAGAGAGAA-G,GAGAAAGAA ***

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.

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