Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > BY907 > S1322 > Exact position not yet finalized.

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 STR1kG
HG01631
58861966-A-C 56728905-T-G +
28619573-C-A 26473426-C-A 16×A+
7611640-T-A 7743599-T-A YY16×AC+
6891384-T-G 7023343-T-G FT259554 YY+
6929896-C-G 7061855-C-G FT259570 Y+
6979847-A-C 7111806-A-C B42B42 YY+
7979495-C-T 8111454-C-T FT259823 YY+
7985343-A-C 8117302-A-C Y+
14213773-A-G 12093067-A-G YY+
14680106-G-T 12568172-G-T FT260603 Y+
14814526-G-A 12702597-G-A FT260634 YY+
14937163-C-T 12825228-C-T FT260649 YY+
15382032-G-A 13270152-G-A FT260750 YY+
15655176-G-T 13543296-G-T FT260813 YY+
15809825-G-C 13697945-G-C FT260862 YY+
16190840-C-T 14078960-C-T FT260932 YY+
16248326-C-T 14136446-C-T FT260948 YY+
16344533-C-T 14232653-C-T BY107106 YY+
16349311-T-C 14237431-T-C FT260980 YY+
16595919-C-T 14484039-C-T YY17×T+
17469202-A-G 15357322-A-G BY115012 YY+
17492011-C-T 15380131-C-T FT261315 YY+
18586950-C-T 16475070-C-T FT261569 YY+
19108134-G-A 16996254-G-A FT261735 YY+
19426104-G-A 17314224-G-A Y+
21527609-C-T 19365723-C-T FT262023 YY+
22544976-G-A 20383090-G-A FT302638 Y+
22864155-C-G 20702269-C-G FT262308 YY+
23785512-T-C 21623626-T-C FT262538 Y+
23810946-C-A 21649060-C-A FT262550 Y+
23862946-G-A 21701060-G-A FT262565 Y+
28651571-C-T 26505424-C-T FT262705 +
2651865-C-T 2783824-C-T Y+
3196576-T-C 3328535-T-C +
3568313-G-A 3700272-G-A +
3656669-C-T 3788628-C-T FT258505 +
4561386-T-C 4693345-T-C FT258842 +
4653745-T-C 4785704-T-C FT258874 +
5364661-C-T 5496620-C-T +
5471902-AAG-A 5603861-AAG-A +
5542520-A-G 5674479-A-G FT259184 +
5785614-T-A 5917573-T-A +
5815479-C-T 5947438-C-T FT259284 +
5833541-A-AATTAG 5965500-A-AATTAG +
5833541-A-G 5965500-A-G +
5996917-T-C 6128876-T-C +
6150045-ATATG-A 6282004-ATATG-A IR3_Dst +
6915783-G-T 7047742-G-T YY+
7235831-G-GTTT 7367790-G-GTTT 29×T+
7474117-C-T 7606076-C-T IR1_L +
8232957-G-T 8364916-G-T YY+
8232959-T-C 8364918-T-C YY+
8232960-A-T 8364919-A-T YY+
9340831-A-AAC 9503222-A-AAC 22×AC+
13255133-G-T 11099457-G-T +
13280044-C-CTATCTTTCT 11124368-C-CTATCTTTCT +
13305124-A-G 11149448-A-G +
13307210-G-A 11151534-G-A +
13309574-T-C 11153898-T-C +
13309588-A-C 11153912-A-C +
13309602-G-T 11153926-G-T +
13358051-T-A 11202375-T-A +
13410264-T-C 11254588-T-C +
13415597-G-T 11259921-G-T S13783 +
13434792-A-G 11279116-A-G +
13640094-A-C 11484418-A-C +
13641481-CT-C 11485805-CT-C 8×T+
13947677-AG-A 11826971-AG-A +
14245251-GGAA-G 12124545-GGAA-G +
14989218-T-TAAAAAA 12877284-TAAAAAAAAAAAAA-T 27×A+
15122317-AT-A 13010404-AT-A +
15290972-GA-G 13179071-GA-G +
15678192-T-C 13566312-T-C FT260821 Y+
16651449-TG-T 14539569-TG-T +
17239285-T-C 15127405-T-C FT301583 YY+
17346141-TC-T 15234261-TC-T +
17633865-AG-A 15521985-AG-A +
17991076-TTA-T 15879196-TTA-T P7_Prx 18×TA+
18205011-C-A 16093131-C-A YY+
18723887-C-T 16612007-C-T YY19×T+
19346426-TCTTCTTC-T 17234546-TCTTCTTC-T +
19558834-A-C 17446954-A-C Y+
21134911-A-C 18973025-A-C YY+
21300078-T-A 19138192-T-A FT261942 YY+
21845633-A-G 19683747-A-G YY+
22242688-C-G 20080802-C-G DYZ19 +
22423580-A-T 20261694-A-T DYZ19 +
22437494-A-G 20275608-A-G FT303198 DYZ19 +
22661489-TTGTATG-T 20499603-TTGTATG-T +
23952432-G-T 21806285-G-T FT262575 8×T+
28545039-G-A 26398892-G-A +
28794925-G-A 26648778-G-A BY151464 +

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.