Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > FGC3213 > ZZ1 > S3058 > S424 > S426 > S190 > FGC3215 > ZZ23 > Y12464 > Z29551 > Z29556

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
151706
FTDNA
151706
BigY2
151706
Manual
Edits
6221982-C-T 6353941-C-T IR3_Dst A****A*
24252295-G-T 22106148-G-T P3_b1 A****A*
58982599-C-A 56836452-C-A A*
56836677-C-G A*
20368108-C-CT 18206222-C-CT P5_Dst 22×TA*
56831551-G-A A*
56833032-A-C A*
56830928-A-C A*
56836244-A-C A*
17992353-G-A 15880473-G-A P7_Prx YA*
19882078-G-A 17770198-G-A P5_Prx A*
26288861-A-G 24142714-A-G P1_Y1 A*
56834261-T-C A*
6345765-C-T 6477724-C-T A5385 +++
10883046-T-G +**
4118749-T-G 4250708-T-G FTA42597 +
4587073-C-G 4719032-C-G FTA42711 +
5021203-A-G 5153162-A-G FTA42806 +
4136641-TACAC-T 4268600-TACAC-T 20×AC*
13893998-A-T 11773292-A-T Y*
23088825-A-C 20926939-A-C YY*
15012591-C-T 12900679-C-T **
14052814-T-A 11932108-T-A Y818 **
7383846-T-C 7515805-T-C **
4230145-A-G 4362104-A-G **
13347887-G-A 11192211-G-A **
13347908-CAA-C 11192232-CAA-C **
5354771-C-CAT 5486730-C-CAT 11×AT**
10686091-G-T **
16904660-TC-T 14792780-TC-T **
2689617-C-A 2821576-C-A **
2758840-C-T 2890799-C-T **
2785320-T-C 2917279-T-C **
3178867-C-A 3310826-C-A **
3301380-G-T 3433339-G-T **
3367088-C-A 3499047-C-A **
3396726-C-A 3528685-C-A **
3491652-G-T 3623611-G-T **
3706722-A-G 3838681-A-G **
3955547-C-A 4087506-C-A **
3965646-C-A 4097605-C-A **
4070781-C-A 4202740-C-A **
4129750-C-T 4261709-C-T **
4241818-C-T 4373777-C-T **
4302286-C-T 4434245-C-T **
4308279-A-G 4440238-A-G **
4521612-TAAAAA-T 4653571-TAAAAA-T 17×A**
4521878-C-A 4653837-C-A **
4547729-T-A 4679688-T-A **
4626300-C-A 4758259-C-A **
4748820-T-C 4880779-T-C **
4869130-G-T 5001089-G-T **
4869144-G-A 5001103-G-A **
4926244-G-T 5058203-G-T **
5200353-G-T 5332312-G-T **
5336697-T-TAA 5468656-T-TAA 12×A**
5420704-G-A 5552663-G-A **
5443294-C-A 5575253-C-A **
5674695-C-A 5806654-C-A **
5742731-A-G 5874690-A-G **
5756095-G-T 5888054-G-T **
5797060-G-A 5929019-G-A **
5824231-C-A 5956190-C-A **
5867392-G-T 5999351-G-T **
5949849-TA-T 6081808-TA-T **
6096409-G-T 6228368-G-T **
6347810-G-T 6479769-G-T **
6446110-G-T 6578069-G-T **
6491353-C-A 6623312-C-A **
6514246-GC-G 6646205-GC-G **
6593494-A-T 6725453-A-T **
6645531-G-A 6777490-G-A **
6730235-T-C 6862194-T-C **
6770250-GA-G 6902209-GA-G **
7094380-T-C 7226339-T-C **
7156936-T-C 7288895-T-C **
7160978-G-A 7292937-G-A **
7165303-T-G 7297262-T-G **
7195183-G-A 7327142-G-A **
7196472-C-T 7328431-C-T **
7241985-C-A 7373944-C-A **
7276837-A-G 7408796-A-G **
7304757-C-A 7436716-C-A **
7316597-G-A 7448556-G-A **
7316603-T-C 7448562-T-C **
7316611-G-A 7448570-G-A **
7316614-G-A 7448573-G-A **
7329423-C-A 7461382-C-A **
7363176-T-A 7495135-T-A **
7384597-T-C 7516556-T-C **
7670719-C-T 7802678-C-T **
7721415-C-A 7853374-C-A **
7869309-C-A 8001268-C-A **
7986079-GA-G 8118038-GA-G 8×A**
8230458-C-A 8362417-C-A **
8353288-C-A 8485247-C-A **
8379547-C-A 8511506-C-A **
8389660-C-T 8521619-C-T **
8389705-A-G 8521664-A-G **
8694289-C-A 8826248-C-A **
8776689-C-A 8908648-C-A **
8854096-AC-A 8986055-AC-A **
8913546-C-T 9045505-C-T **
9108758-G-T **
9163047-C-A 9325438-C-A **
9964218-A-T 10126609-A-T **
9965509-G-T 10127900-G-T **
10629034-T-G **
10629044-T-C **
10629052-C-T **
10629054-T-G **
10629061-C-T **
10629074-C-G **
10629082-CAA-C **
10629088-A-ACAT **
10629091-CT-C **
10629125-T-C **
10629135-T-C **
10651473-C-A **
10660472-C-CCATTG **
10660484-A-T FT428464 **
10661920-A-G **
10666348-C-A **
10668876-C-A **
10690818-G-T **
10693348-C-A **
10749580-G-T **
10750895-G-A **
10755327-C-A **
10757105-C-A **
10764685-C-A **
10766719-C-A **
10785671-C-A **
10796802-T-C **
10796816-C-G **
10805996-CA-C **
10840333-C-A **
10852078-G-C FT434151 **
10859193-T-C **
10866532-C-A **
10866567-A-C **
10913627-C-A **
10928816-C-A **
10949578-C-CCCTCT **
10949589-A-G **
10949598-C-A **
10949624-A-G **
10949637-C-T **
10959074-T-C **
10968216-C-CTCCTA **
10968221-C-A **
10968252-C-T **
10968261-T-C **
10968265-T-A **
10968272-T-G **
10968279-C-T **
10972674-T-C **
10977236-A-T **
10977239-A-C **
10977257-T-C **
10977268-T-C **
10978934-C-A **
10992240-C-A **
10996440-C-A **
10997484-T-C **
11000355-C-A **
11003797-C-A **
11021481-C-A **
11026746-C-A **
13200379-C-A 11044703-C-A FT350595 **
13205428-C-A 11049752-C-A **
13213933-G-A 11058257-G-A **
13217967-C-A 11062291-C-A **
13218763-T-A 11063087-T-A **
13579582-C-T 11423906-C-T **
13608748-G-T 11453072-G-T **
13633869-A-T 11478193-A-T **
13690251-A-G 11534575-A-G DYZ17 **
11663091-T-G DYZ17 **
11665260-GA-G DYZ17 **
13927481-C-A 11806775-C-A **
13932811-T-C 11812105-T-C **
13960506-G-A 11839800-G-A **
14067304-C-A 11946598-C-A **
14073220-G-A 11952514-G-A **
14080001-G-T 11959295-G-T **
14107552-C-A 11986846-C-A **
14158243-C-A 12037537-C-A **
14160301-G-T 12039595-G-T **
14176472-C-A 12055766-C-A **
14272471-C-G 12151765-C-G **
14300141-G-A 12179435-G-A **
14358410-GAAAA-G 12237705-GAAAA-G 14×A**
14421580-G-T 12300855-G-T Y91391 **
14430323-G-A 12309596-G-A FTB22121 **
14456158-C-A 12335431-C-A **
14458405-A-T 12337678-A-T **
14471813-C-A 12351082-C-A **
14531208-A-T 12419409-A-T **
14532058-T-C 12420259-T-C **
14558060-C-A 12446261-C-A **
14574669-C-A 12462869-C-A **
14599014-G-T 12487214-G-T **
14757809-T-C 12645878-T-C **
14765218-C-A 12653287-C-A **
14949082-A-G 12837156-A-G **
14986156-C-A 12874224-C-A **
15012560-G-A 12900648-G-A **
15012570-C-T 12900658-C-T **
15168086-C-A 13056172-C-A FGC66103 **
15171286-T-C 13059372-T-C **
15338850-C-A 13226968-C-A **
15398321-C-T 13286441-C-T **
15685224-G-T 13573344-G-T **
15767164-G-T 13655284-G-T **
15858005-C-A 13746125-C-A **
16045318-C-A 13933438-C-A **
16070657-T-C 13958777-T-C FT37057 **
16272050-T-G 14160170-T-G **
16424548-T-C 14312668-T-C **
16503770-G-A 14391890-G-A **
16605516-C-A 14493636-C-A **
16677149-C-T 14565269-C-T **
16689779-A-G 14577899-A-G **
16827396-C-A 14715516-C-A **
17270437-C-A 15158557-C-A **
17399576-TA-T 15287696-TA-T **
17490202-C-A 15378322-C-A **
17713845-ATCT-A 15601965-ATCT-A **
17714028-A-G 15602148-A-G **
17997452-G-A 15885572-G-A P7_Gap **
18190617-C-A 16078737-C-A **
18412214-T-A 16300334-T-A P6_Gap **
18565327-A-G 16453447-A-G **
18989822-C-A 16877942-C-A **
19228916-C-G 17117036-C-G **
19250757-T-A 17138877-T-A **
19272121-C-A 17160241-C-A **
19314705-G-A 17202825-G-A **
19415529-C-T 17303649-C-T **
19416572-A-G 17304692-A-G **
19809863-T-TG 17697983-T-TG P5_Prx **
20352202-C-T 18190316-C-T P5_Dst **
21033556-A-T 18871670-A-T **
21201833-C-A 19039947-C-A **
21700595-GAAAAAAA-G 19538709-GAAAAAAA-G 17×A**
21834243-C-A 19672357-C-A **
21840919-T-C 19679033-T-C **
21912226-C-A 19750340-C-A **
21954497-T-C 19792611-T-C **
22040835-G-A 19878949-G-A **
22183059-T-C 20021173-T-C **
22309896-C-CAAGA 20148010-C-CAAGA DYZ19 **
22425345-C-A 20263459-C-A DYZ19 **
22614887-C-T 20453001-C-T **
22730012-C-A 20568126-C-A **
22768293-C-A 20606407-C-A **
22869028-T-A 20707142-T-A **
22949958-A-T 20788072-A-T **
23004106-T-C 20842220-T-C **
23199318-T-A 21037432-T-A **
23276571-G-T 21114685-G-T **
23356581-C-A 21194695-C-A **
23434222-TA-T 21272336-TA-T 9×A**
23440657-C-A 21278771-C-A **
23793407-C-A 21631521-C-A **
24302817-A-AT 22156670-A-AT P3_t1 **
24369540-C-A 22223393-C-A **
24446794-G-T 22300647-G-T **
24513390-C-A 22367243-C-A **
26061484-T-C 23915337-T-C P1_Y1 **
27461864-C-A 25315717-C-A P1_Y2 **
28091456-A-ACAG 25945309-A-ACAG P1_Y2 **
28460971-G-A 26314824-G-A **
28478242-C-A 26332095-C-A **
28492416-T-C 26346269-T-C **
28494610-G-T 26348463-G-T **
28551151-C-A 26405004-C-A **
28613167-G-C 26467020-G-C **
28622247-A-G 26476100-A-G **
56763501-G-T **
56848078-G-T **
9806720-G-A 9969111-G-A **
24240670-T-TC 22094523-T-TC P3_b1 **
56742652-G-C **
17060348-AT-A 14948468-AT-A 9×T**
10633280-T-A **
3588154-A-T 3720113-A-T **
9206141-A-G 9368532-A-G **
9379026-T-C 9541417-T-C **
9909495-C-A 10071886-C-A **
16995667-T-C 14883787-T-C **
18541328-G-A 16429448-G-A **
22129899-A-G 19968013-A-G **
22985611-T-A 20823725-T-A **
26043354-T-A 23897207-T-A P1_Y1 **
26515774-G-GTT 24369627-G-GTT P1_Y1 23×T**
27918819-A-G 25772672-A-G P1_Y2 **
13809661-A-G 11688955-A-G DYZ17 ***
28796369-C-CCATGG 26650222-C-CCATGG ***
22010480-G-A 19848594-G-A ***
3116256-C-A 3248215-C-A ***
3834942-G-A 3966901-G-A ***
4244643-G-A 4376602-G-A ***
4302064-A-G 4434023-A-G ***
5871862-T-A 6003821-T-A ***
6124187-C-A 6256146-C-A ***
7562059-C-A 7694018-C-A ***
7645953-C-A 7777912-C-A ***
9870282-G-A 10032673-G-A ***
9945868-A-AG 10108259-A-AG ***
10654529-C-A ***
10682552-C-CAGTAA ***
10754983-A-T ***
10754988-A-G ***
10772422-A-C ***
10772440-C-T ***
10772448-T-G ***
10772453-T-A ***
10796787-T-C ***
10796788-G-A ***
10964286-G-T ***
10991237-T-A ***
10991238-T-A ***
10991245-C-T ***
10991249-C-CCGAAA ***
11000450-T-C ***
11000451-T-A ***
11000453-C-T ***
14143123-C-A 12022417-C-A ***
14771126-CTTTTT-C 12659195-CTTTTT-C 16×T***
14910798-AT-A,ATT 12798865-AT-A,ATT 21×T***
15780033-C-A 13668153-C-A ***
16354413-C-A 14242533-C-A ***
17204151-C-A 15092271-C-A ***
18143936-T-A 16032056-T-A FT392502 ***
18569842-T-A 16457962-T-A ***
18752943-T-C 16641063-T-C F22866 ***
18872156-TTTTCTTTCTTTC-T,TTTTC 16760276-TTTTCTTTCTTTC-T,TTTTC 16×TTTC***
19436722-AAGAAAGAAAGAAAGAA-A,AAGAAAGAAAGAAAGAG 17324842-AAGAAAGAAAGAAAGAA-A,AAGAAAGAAAGAAAGAG ******
22490517-C-T 20328631-C-T DYZ19 ***
22829644-CAAAA-C 20667758-CAAAA-C 18×A***
24508205-CTTT-C,CTT 22362058-CTTT-C,CTT 22×T***
24672590-ATT-A 22526443-ATT-A P3_b2 9×T***
28633534-C-A 26487387-C-A ***
28635707-C-A 26489560-C-A ***
28798834-C-A 26652687-C-A ***
28805769-A-AATGCC 26659622-A-AATGCC ***
56834942-C-A ***
56835503-A-C,T ***
3194282-AT-A 3326241-AT-A 9×T***
21998963-G-GTTT 19837077-G-GTTT 11×T***
13459057-A-G 11303381-A-G ***
13459068-T-C 11303392-T-C ***
13459134-T-G 11303458-T-G ***
3208742-T-A 3340701-T-A ***
5196746-A-G 5328705-A-G ***
5899928-C-G 6031887-C-G ***
6605538-T-C 6737497-T-C FT115109 ***
13459079-TT-T,TG 11303403-TT-T,TG ***
13459082-T-C,TA 11303406-T-C,TA ***
14087658-T-C 11966952-T-C ***
14738413-CTT-C,CTTT 12626481-CTT-C,CTTT 17×T***
15102869-C-T 12990957-C-T ***
15147685-A-G 13035772-A-G ***
15300802-C-A 13188901-C-A ***
15411308-CAAAAAA-C,CAAAAA 13299428-CAAAAAA-C,CAAAAA 30×A***
17483206-A-G 15371326-A-G ***
19041576-G-GA 16929696-G-GA ***
19394010-A-C 17282130-A-C ***
21096600-T-C 18934714-T-C ***
21275804-G-T 19113918-G-T ***
21417224-A-G 19255338-A-G ***
22696054-A-G 20534168-A-G ***
28565927-T-C 26419780-T-C ***
56848983-T-G ***
56861837-AACCTGAGCATC-A ***

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual14611351-AG-A12499557-AG-A43 reads cover the region and all but one show the deletion.
Manual5188687-C-G5320646-C-GJust one read, a G.
Manual22323215-T-A20161329-T-A11 reads, all A.
Manual18382652-T-A16270772-T-A4 reads show the T to A mutation. One of the 4 reads has a deletion of an A in the preceding A homopolymer.
Manual13136739-C-T10626225-C-TThere are a large number of reads that don't belong here. Of the 39 that do, we have 36T 3C.