Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > ZZ10

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
8144978-A-T 8276937-A-T BY12531 YY+
14287364-A-T 12166658-A-T BY12512 YY+
14350564-T-G 12229859-T-G BY12513 YY+
14839303-G-C 12727370-G-C BY12514 YY+
14901619-G-A 12789686-G-A Y50038 YY+
15750632-C-T 13638752-C-T BY12515 YY+
15771850-T-G 13659970-T-G BY12516 YY+
16824759-C-T 14712879-C-T BY12517 YY+
17190388-A-G 15078508-A-G BY12518 YY+
17804094-C-G 15692214-C-G BY12519 YY+
18149515-T-C 16037635-T-C BY12520 YY+
19243730-G-T 17131850-G-T BY12521 YY+
19408496-A-G 17296616-A-G BY12522 YY+
21138926-A-T 18977040-A-T BY12523 YY+
21308105-G-A 19146219-G-A BY12524 YY+
21503790-G-A 19341904-G-A BY12525 YY+
22476965-T-G 20315079-T-G BY12526 DYZ19 +
22645485-T-G 20483599-T-G BY12527 YY+
22897091-G-C 20735205-G-C BY12528 YY+
22937293-T-C 20775407-T-C BY12529 YY+
23742676-AG-A 21580790-AG-A +
25630258-T-C 23484111-T-C BY12530 P1_b3 +
5829754-T-C 5961713-T-C Z1947 **
14347922-C-A 12227217-C-A **
16437317-A-C 14325437-A-C PR2177 **
22253122-T-A 20091236-T-A BY214119 DYZ19 **
22506486-A-T 20344600-A-T BY44063 DYZ19 **
26286104-TTA-T 24139957-TTA-T P1_Y1 **
10020797-C-A 10183188-C-A ***
9220245-G-A 9382636-G-A ***
9519816-CTT-C 9682207-CTT-C ***
10016313-T-A 10178704-T-A ***
13462543-T-C 11306867-T-C ***
13462544-G-C 11306868-G-C ***
13462546-C-CCT 11306870-C-CCT ***
14031660-GTC-G 11910954-GTC-G ***
20752097-G-C 18590211-G-C BY42496 P4_Prx ***
22243507-C-T 20081621-C-T DYZ19 ***
22250316-C-T 20088430-C-T DYZ19 ***
22250331-A-T 20088445-A-T DYZ19 ***
22302372-T-C 20140486-T-C DYZ19 ***
22312958-T-A 20151072-T-A DYZ19 ***
22446943-T-A 20285057-T-A DYZ19 ***
22453703-C-T 20291817-C-T DYZ19 ***
22508842-G-T 20346956-G-T BY182444 DYZ19 ***
24118013-G-A 21971866-G-A P3_b1 ***
24168895-T-C 22022748-T-C P3_b1 ***
24241264-C-T 22095117-C-T P3_b1 ***
24266367-T-C 22120220-T-C P3_b1 ***
25031267-T-G 22885120-T-G g1 ***
25141837-T-C 22995690-T-C g1 ***
25143714-C-T 22997567-C-T g1 ***
25190955-C-G 23044808-C-G g1 ***
25232427-C-T 23086280-C-T P2_r1 ***
25255167-C-A 23109020-C-A P2_r1 ***
25746885-T-G 23600738-T-G P1_b3 ***
26159442-G-T 24013295-G-T P1_Y1 ***
28811939-C-T 26665792-C-T ***
14937823-A-ATTTTATTTTC 12825893-C-A L1229 10×TTTTC***
9519812-TTT-T,TTC 9682203-TTT-T,TTC 17×TTTC***

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.