Tree Position

R-P312/S116 > L238/S182 > Z2245 > Z2247

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 STRBigY3
4319232-G-A 4451191-G-A A+
26397325-C-T 24251178-C-T P1_Y1 A*
28817174-T-G 26671027-T-G A*
26075321-C-T 23929174-C-T P1_Y1 A*
13451254-T-C 11295578-T-C A*
6273904-A-G 6405863-A-G IR3_Dst A*
6327029-A-G 6458988-A-G IR3_Dst A*
18370167-C-T 16258287-C-T P6_Prx A*
19571910-A-G 17460030-A-G P5_Prx YA*
19748552-T-G 17636672-T-G P5_Prx A*
19879494-G-C 17767614-G-C P5_Prx A*
19900103-C-T 17788223-C-T P5_Prx A*
19926112-A-C 17814232-A-C P5_Prx A*
19957264-A-G 17845384-A-G P5_Prx 8×TA*
20026517-A-G 17914637-A-G P5_Prx A*
20721096-C-T 18559210-C-T P4_Prx A*
22274322-G-A 20112436-G-A DYZ19 A*
28817179-T-C 26671032-T-C A*
28817260-G-A 26671113-G-A A*
28817699-G-A 26671552-G-A A*
56879834-C-T A*
8736334-G-A 8868293-G-A Z251/S470S470 Z251 Y+
2708654-T-C 2840613-T-C FT345 YY+
3583426-C-T 3715385-C-T FT241119 +
3825880-G-A 3957839-G-A FT77971 +
4194198-T-G 4326157-T-G FT241279 +
4388598-G-C 4520557-G-C FT241322 +
5506233-C-T 5638192-C-T FT241621 +
5931405-T-A 6063364-T-A FT241756 +
7820369-T-G 7952328-T-G FT242116 YY+
7956582-A-G 8088541-A-G FT242150 YY+
8030679-T-C 8162638-T-C FT242163 YY+
8361010-C-T 8492969-C-T FT75878 YY+
8572386-C-T 8704345-C-T FT242288 YY+
8777447-TGTTA-T 8909406-TGTTA-T +
8846778-A-G 8978737-A-G FT242365 YY+
9151250-C-T 9313641-C-T FT242421 Y+
10864053-G-A FT397025 +
10886563-C-T FT435555 +
13918202-T-G 11797496-T-G FT242556 Y+
14055328-A-G 11934622-A-G FT242604 YY+
15153067-T-C 13041154-T-C FT242887 YY+
15549267-C-T 13437387-C-T FT242963 YY+
16489685-G-A 14377805-G-A FT139146 YY+
17193640-T-G 15081760-T-G FT243349 YY+
18064251-T-G 15952371-T-G FT243557 YY+
18792781-T-C 16680901-T-C FT243697 YY+
19090227-G-A 16978347-G-A FT243763 YY+
19224840-G-A 17112960-G-A FT243791 YY+
19391774-A-C 17279894-A-C FT243830 YY+
19503871-T-A 17391991-T-A FT243864 YY+
19546049-C-T 17434169-C-T FT243872 YY+
21753515-A-G 19591629-A-G YY+
21772472-C-T 19610586-C-T FT244032 YY+
22112919-AT-A 19951033-AT-A +
23454808-AG-A 21292922-AG-A +
13833558-T-TATGGA 11712852-T-TATGGA 6×ATGGA*
28810294-G-T 26664147-G-T *
14055418-A-G 11934712-A-G FT329026 **
18060386-ATGTG-A 15948506-ATGTG-A **
18825596-C-T 16713716-C-T **
22551613-A-T 20389727-A-T **
22551616-A-T 20389730-A-T **
26389859-GCA-G 24243712-GCA-G P1_Y1 10×CA**
18738849-G-A 16626969-G-A BY123531 **
4764812-T-C 4896771-T-C **
16558198-T-A 14446318-T-A **
18060395-T-G 15948515-T-G **
3394592-G-A 3526551-G-A **
4174044-G-A 4306003-G-A **
4305820-TG-T 4437779-TG-T **
4624441-C-T 4756400-C-T **
4677905-T-A 4809864-T-A **
5201791-G-A 5333750-G-A **
5815594-CAAAAAAA-C 5947553-CAAAAAAA-C 22×A**
6451606-A-G 6583565-A-G **
7579288-C-T 7711247-C-T **
7724005-G-T 7855964-G-T **
7923721-T-C 8055680-T-C **
8078032-A-T 8209991-A-T **
8078123-G-A 8210082-G-A **
9909098-C-T 10071489-C-T **
10628239-C-A **
13362063-A-T 11206387-A-T FT374007 **
13476511-C-T 11320835-C-T **
13695999-G-C 11540323-G-C BY28245 **
13696776-A-G 11541100-A-G **
15092836-G-T 12980924-G-T **
15107228-T-C 12995315-T-C **
16022836-A-G 13910956-A-G **
20769011-A-G 18607125-A-G P4_Prx **
21184473-C-T 19022587-C-T **
21687608-T-C 19525722-T-C **
22147766-TTTC-T 19985880-TTTC-T **
27506540-G-A 25360393-G-A P1_Y2 **
26120150-T-TTTCCTTCC 23974003-T-TTTCCTTCC P1_Y1 12×TTCC***
5634282-C-T 5766241-C-T ***
22280207-T-C 20118321-T-C BY9596 DYZ19 ***
15171226-CTTTTTT-C 13059312-CTTTTTT-C 19×T***
18855403-C-CTT 16743523-C-CTT 14×T***
5084428-T-C 5216387-T-C ***
23385870-CT-C 21223984-CT-C 8×T***
14887094-CTT-C 12775160-CTT-C 11×T***
3916981-C-A 4048940-C-A ***
4880892-A-ATT 5012851-A-ATT 17×T***
2950297-G-C 3082256-G-C BY57307 ***
3086544-C-CAA 3218503-C-CAA 18×A***
15912055-CTTT-C,CTT 13800175-CTTT-C,CTT 21×T***
3394587-G-A 3526546-G-A ***
16598677-GA-G,GAA 14486797-GA-G,GAA 19×A***
23601559-T-C 21439673-T-C ***
3148405-A-G 3280364-A-G ***
3394588-C-T 3526547-C-T ***
3394606-C-T 3526565-C-T ***
3394612-T-G 3526571-T-G ***
3557372-T-C 3689331-T-C ***
3909426-T-C 4041385-T-C ***
4498202-TG-T 4630161-TG-T ***
4875805-T-A 5007764-T-A ***
5318288-TA-T 5450247-TA-T ***
6068404-A-G 6200363-A-G ***
6513728-T-G 6645687-T-G ***
6979851-AAAAC-A 7111810-AAAAC-A ***
7216473-T-C 7348432-T-C ***
7768586-T-C 7900545-T-C ***
13467258-TG-T 11311582-TG-T ***
14682349-C-T 12570415-C-T ***
14794992-A-G 12683063-A-G ***
15160728-G-T 13048814-G-T ***
15183987-C-T 13072073-C-T ***
15326040-A-G 13214158-A-G ***
16040802-CTTTT-C,CTTTTT 13928922-CTTTT-C,CTTTTT 16×T***
18952997-G-A 16841117-G-A ***
19222793-A-G 17110913-A-G ***
21940119-T-C 19778233-T-C ***
22422725-T-C 20260839-T-C DYZ19 ***
22692170-A-G 20530284-A-G ***
22768870-C-CT 20606984-C-CT ***
22814822-A-G 20652936-A-G ***
23196627-TAAAA-T,TAAA 21034741-TAAAA-T,TAAA 17×A***
23807578-CAAA-C,CAA 21645692-CAAA-C,CAA 21×A***
24360212-A-G 22214065-A-G ***

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.