Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > ZZ40 > ~24806588-G-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 STRFTDNA
388741
2813255-A-G 2945214-A-G Y44883 YY+
2911578-T-C 3043537-T-C Y44999 YY+
6966022-G-T 7097981-G-T Y45521 YY+
7046799-A-G 7178758-A-G Y45600 YY+
7878388-A-G 8010347-A-G Y46565 YY+
8186830-A-G 8318789-A-G Y46926 YY+
8590169-A-G 8722128-A-G Y47583 YY+
9878578-T-C 10040969-T-C Y48602 YY+
14126317-C-T 12005611-C-T Y49026 YY+
14573729-T-C 12461929-T-C Y49675 YY+
15485557-A-T 13373677-A-T Y50724 YY+
15554806-G-A 13442926-G-A Y50827 YY+
15980516-TGTATCAGTAGACA-T 13868636-TGTATCAGTAGACA-T +
16211193-A-G 14099313-A-G Y51511 YY+
16475328-G-C 14363448-G-C Y81786BY48201 YY+
17232421-A-G 15120541-A-G Y52955 YY+
17347835-T-C 15235955-T-C Y53127 YY+
17438272-G-T 15326392-G-T Y53267 YY+
17592931-C-T 15481051-C-T ZS11320 YP6028 YY+
17941392-G-C 15829512-G-C Y53967 YY+
19451433-G-A 17339553-G-A Y55913 YY+
21637505-A-G 19475619-A-G Y56990 YY+
22444550-A-T 20282664-A-T BY31143 DYZ19 +
22461972-G-A 20300086-G-A FT457872 DYZ19 +
22465305-C-T 20303419-C-T BY221506 DYZ19 +
22473054-G-C 20311168-G-C DYZ19 +
22474502-G-C 20312616-G-C SUR37 DYZ19 +
22485433-G-C 20323547-G-C BY224689 DYZ19 +
22671905-G-T 20510019-G-T Y58117 YY+
23346919-A-G 21185033-A-G Y59066 YY+
23391434-T-C 21229548-T-C Y59111 YY+
23478403-G-T 21316517-G-T Y59228 YY+
24455662-G-A 22309515-G-A Y59841 Y+
18968321-C-T 16856441-C-T CTS9570 **
18968329-C-T 16856449-C-T CTS9571 **
22270044-T-A 20108158-T-A DYZ19 **
18968388-C-A 16856508-C-A CTS9572 **
22474519-T-C 20312633-T-C SUR38 DYZ19 **
22444449-T-G 20282563-T-G ZS3153 DYZ19 **
22444558-C-T 20282672-C-T BY22979 DYZ19 **
14440784-G-A 12320057-G-A BY95788 **
22444541-A-T 20282655-A-T FT299895 DYZ19 **
22444559-T-G 20282673-T-G DYZ19 **
22473342-G-T 20311456-G-T DYZ19 **
24046615-CT-C 21900468-CT-C **
13496576-A-T 11340900-A-T ***
13809924-A-G 11689218-A-G ***
13475140-A-G 11319464-A-G ***
10022983-C-A 10185374-C-A ***
13856555-A-G 11735849-A-G A2179 ***
13856558-G-C 11735852-G-C A2180 ***
13804114-T-C 11683408-T-C ***
9944916-G-A 10107307-G-A ***
13511605-C-A 11355929-C-A ***
13824841-A-G 11704135-A-G ***
13824831-A-T 11704125-A-T ***
13824843-G-A 11704137-G-A ***
13824847-T-C 11704141-T-C ***
24137850-T-TTG 21991703-T-TTG P3_b1 11×TG***
22475590-T-A 20313704-T-A FGC52748 DYZ19 ***
13504810-T-TA 11349134-T-TA ***
9329169-C-T 9491560-C-T ***
9941264-T-C,G 10103655-T-C,G ***
9945123-A-G 10107514-A-G ***
13513089-C-T 11357413-C-T FGC50156 ***
18273211-T-C 16161331-T-C P6_Prx ***
18276191-G-A 16164311-G-A P6_Prx ***
19610560-C-T 17498680-C-T P5_Prx ***
19675505-A-G 17563625-A-G BY211896 P5_Prx ***
20700392-C-G 18538506-C-G FT452790 P4_Prx ***
22223763-T-G 20061877-T-G DYZ19 ***
22264190-G-A 20102304-G-A DYZ19 ***
22264402-A-G 20102516-A-G DYZ19 ***
22269875-C-T 20107989-C-T FT454056 DYZ19 ***
22288706-G-T 20126820-G-T BY216264 DYZ19 ***
22307579-G-T 20145693-G-T DYZ19 ***
22346342-G-A 20184456-G-A DYZ19 ***
22435616-A-T 20273730-A-T DYZ19 ***
22444441-AG-A 20282555-AG-A DYZ19 ***
22444452-C-A 20282566-C-A BY52646 DYZ19 ***
22444472-A-T 20282586-A-T BY219413 DYZ19 ***
22444480-A-T 20282594-A-T BY51727 DYZ19 ***
22444506-T-TA 20282620-T-TA DYZ19 ***
22448196-G-T 20286310-G-T DYZ19 ***
22463277-T-A 20301391-T-A DYZ19 ***
22475605-G-A 20313719-G-A BY58804PLE19 FGC51202 DYZ19 ***
22476634-C-T 20314748-C-T DYZ19 ***
22483870-T-C 20321984-T-C DYZ19 ***
22502938-G-C 20341052-G-C DYZ19 ***
22502947-G-A 20341061-G-A DYZ19 ***
22503001-G-A 20341115-G-A DYZ19 ***
22503087-G-C 20341201-G-C DYZ19 ***
22503096-T-G 20341210-T-G DYZ19 ***
24079547-G-A 21933400-G-A P3_b1 ***
24285450-G-C 22139303-G-C P3_t1 ***
24298135-A-G 22151988-A-G P3_t1 ***
24958816-T-C 22812669-T-C g1 ***
25026050-C-A 22879903-C-A g1 ***
25101948-C-T 22955801-C-T g1 ***
25384121-T-C 23237974-T-C P2_r2 ***
26178374-C-T 24032227-C-T P1_Y1 ***
26195186-C-G 24049039-C-G P1_Y1 ***
26232018-A-T 24085871-A-T P1_Y1 ***
28810357-G-A 26664210-G-A ***
13457901-TATTCCATTCC-T 11302225-TATTCCATTCC-T 7×ATTCC***
23530641-G-GTA 21368755-G-GTA ***
22259729-T-A,C 20097843-T-A,C DYZ19 ***

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.