Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > Z295/S1217 > ZZ77

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
7264950-C-T 7396909-C-T CTS1199 PF1521 M5063 YY+
22862687-T-C 20700801-T-C BY31420 Y109993 YY+
21860906-AAAAAAC-A 19699020-AAAAAAC-A 4×AAAAAC+
6859479-G-A 6991438-G-A Y82717 YY+
7195917-A-G 7327876-A-G Y83564 BY31403 YY+
7546152-G-A 7678111-G-A BY31404 Y84261 YY+
7685296-C-G 7817255-C-G BY31405 Y84671 YY+
9011700-GTTATTA-G 9174091-GTTATTA-G +
13299283-C-G 11143607-C-G +
15502876-C-A 13390996-C-A BY31406 Y93960 YY+
15827451-T-G 13715571-T-G Y94891 BY31407 YY+
16170643-T-G 14058763-T-G BY31408 Y95503 Y+
16798005-T-G 14686125-T-G Y97335 BY31409 YY+
16852223-A-T 14740343-A-T Y97487 BY31410 YY+
16924774-T-C 14812894-T-C BY31411 Y97694 YY+
16952250-T-C 14840370-T-C BY31412 Y97771 YY+
16982017-T-C 14870137-T-C Y97850 YY+
17960795-A-G 15848915-A-G BY31413 Y100791 YY+
18093593-T-C 15981713-T-C BY31414 Y101258 YY+
21039839-T-C 18877953-T-C BY31415 Y105290 Y+
21812603-C-T 19650717-C-T BY31416 Y107573 YY+
22110795-G-A 19948909-G-A BY31417 Y108419 YY+
22242208-C-A 20080322-C-A DYZ19 +
22269673-G-C 20107787-G-C DYZ19 +
22426238-C-G 20264352-C-G DYZ19 +
22460559-G-C 20298673-G-C BY220560 DYZ19 +
22462936-C-A 20301050-C-A BY31418 DYZ19 +
22471790-TGAA-T 20309904-TGAA-T DYZ19 +
22717421-C-A 20555535-C-A BY31419 Y109546 YY+
22904637-T-G 20742751-T-G FGC59253 YY+
23147729-G-C 20985843-G-C Y110797 YY+
24370043-G-A 22223896-G-A Y112693 BY31421 +
13745746-C-G 11590070-C-G **
13825298-A-G 11704592-A-G ***
10022779-A-C 10185170-A-C ***
10022857-T-G 10185248-T-G ***
13452496-T-C 11296820-T-C ***
22452467-G-T 20290581-G-T DYZ19 ***
17991411-GA-G 15879531-GA-G P7_Prx 11×A***
26905497-CAAAA-C 24759350-CAAAA-C P1_r3 19×A***
13449476-C-T 11293800-C-T ***
13449467-T-G 11293791-T-G ***
13449468-A-G 11293792-A-G ***
13477222-G-T 11321546-G-T ***
13449453-A-G 11293777-A-G ***
13449454-A-G 11293778-A-G ***
13453447-T-A 11297771-T-A ***
13142210-T-A 10631696-T-A ***
13142220-T-C 10631706-T-C ***
22260229-T-C 20098343-T-C DYZ19 ***
13143373-C-T 10632859-C-T ***
9985006-G-A,C 10147397-G-A,C ***
13433424-TAAA-T,TAA 11277748-TAAA-T,TAA 10×A***
58981073-T-C,G 56834926-T-C,G ***
13659459-T-A 11503783-T-A ***
6169525-C-G 6301484-C-G IR3_Dst ***
6206948-A-G 6338907-A-G IR3_Dst ***
13452489-C-T 11296813-C-T ***
13452491-C-T 11296815-C-T ***
13452492-C-A 11296816-C-A ***
13452499-T-C 11296823-T-C ***
13471810-T-TC 11316134-T-TC ***
20784685-G-C 18622799-G-C P4_Prx ***
22257623-T-G 20095737-T-G DYZ19 ***
22257630-G-T 20095744-G-T DYZ19 ***
22280645-G-A 20118759-G-A DYZ19 ***
22284221-A-C 20122335-A-C DYZ19 ***
22299309-A-C 20137423-A-C DYZ19 ***
22310498-A-G 20148612-A-G DYZ19 ***
22447121-G-A 20285235-G-A DYZ19 ***
23725864-C-T 21563978-C-T ***
24086167-C-T 21940020-C-T P3_b1 ***
24087556-C-T 21941409-C-T P3_b1 ***
24217729-T-G 22071582-T-G P3_b1 ***
25053803-T-C 22907656-T-C g1 ***
25344900-G-A 23198753-G-A P2_r1 ***
25351007-T-A 23204860-T-A P2_r1 ***

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.