Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > FGC5494 > FGC5561 > FGC19319

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
N55408
FGC
TDB0O
3973346-C-A 4105305-C-A FGC19323 +
4633454-T-C 4765413-T-C FGC19325 +
28578158-C-T 26432011-C-T FGC19363 +
4745943-T-C 4877902-T-C FGC19326 +
5543292-G-T 5675251-G-T FGC19327 +
6925626-T-C 7057585-T-C FGC19330 YY+
7127407-G-C 7259366-G-C FGC19319FGC19331 YY+
7254938-G-A 7386897-G-A FGC19332 Y+
23069454-G-A 20907568-G-A M3846 YY++
23103087-G-T 20941201-G-T FGC19360 Y+
21864467-T-C 19702581-T-C FGC19357 YY++
2665405-T-A 2797364-T-A FGC19319FGC19319 YY+
17982608-GATA-G 15870728-GATA-G +*
16564109-C-T 14452229-C-T FGC19347 YY++
4048880-C-T 4180839-C-T FGC19324 +
13684328-A-C 11528652-A-C +**
13684327-T-A 11528651-T-A +**
3597703-G-A 3729662-G-A FGC19320 +
19081224-G-A 16969344-G-A FGC19355 YY+
17850025-G-A 15738145-G-A FGC19353 YY+
17683213-G-A 15571333-G-A FGC19351 Y+
15770696-C-A 13658816-C-A FGC19345 YY+
28709762-T-C 26563615-T-C FGC19364 +
13548820-T-C 11393144-T-C FGC19341 +
7785880-A-C 7917839-A-C FGC19333 YY++
7815479-G-T 7947438-G-T FGC19334 YY++
8845674-T-C 8977633-T-C FGC19338 YY++
5828807-A-G 5960766-A-G FGC19328 *
3881489-C-T 4013448-C-T FGC19322 *
14489855-C-A 12369124-C-A CTS2796 YY*
3619084-A-G 3751043-A-G FGC19321 *
16052579-GATAAATAA-G 13940699-GATAAATAA-G 8×ATAA**
18780233-T-A 16668353-T-A **
22258242-C-T 20096356-C-T DYZ19 **
5096104-T-G 5228063-T-G **
13129227-C-T 10618713-C-T **
3374847-C-CAAAAAAA 3506806-C-CAAAAAAA 23×A**
14219767-G-GA 12099061-G-GA 11×A**
15012615-C-G 12900703-C-G **
26500451-AACAC-A 24354304-AACAC-A P1_Y1 23×AC**
2940686-G-C 3072645-G-C **
18780234-C-T 16668354-C-T **
13813964-ATGGACTCGAATGGAG-A 11693258-ATGGACTCGAATGGAG-A *****
18994824-GGGAA-G 16882944-GGGAA-G 6×GGAA*****
18804474-A-AAGAG 16692594-A-AAGAG 26×AG**
19510264-C-CTTT 17398384-C-CTTT 27×T**
21929600-G-GTA 19767714-G-GTA 12×TA**
58826861-A-T 56764010-T-A ***
58877017-C-T 56713854-G-A ***
27305895-T-A 25159748-T-A P1_g3 ***
58880709-C-G 56710162-G-C ***
58869052-G-C 56721819-C-G ***
58877015-G-C 56713856-C-G ***
27305898-A-T 25159751-A-T P1_g3 ***
58890635-A-C 56700236-T-G ***
58867425-C-T 56723446-G-A ***
58865807-C-T 56725064-G-A ***
58863232-T-A 56727639-A-T ***
58890013-T-G 56700858-A-C ***
58894609-C-G 56696262-G-C ***
58890650-C-T 56700221-G-A ***
27305889-C-T 25159742-C-T P1_g3 ***
58859216-G-A 56731655-C-T ***
58898232-C-T 56692639-G-A ***
58908541-T-A 56682330-A-T ***
26379404-A-G 24233257-A-G P1_Y1 ***
26345378-C-A 24199231-C-A P1_Y1 ***
58909129-A-G 56681742-T-C ***
58909151-A-G 56681720-T-C ***
58909280-G-C 56681591-C-G ***
26345344-G-A 24199197-G-A P1_Y1 ***
26318315-C-T 24172168-C-T P1_Y1 ***
26247791-G-T 24101644-G-T P1_Y1 ***
25946401-T-A 23800254-T-A P1_Y1 ***
58859250-G-T 56731621-C-A ***
58857772-C-G 56733099-G-C ***
58857789-C-T 56733082-G-A ***
28103736-G-T 25957589-G-T P1_Y2 ***
58843750-A-C 56747121-T-G ***
58844912-A-T 56745959-T-A ***
58845683-C-T 56745188-G-A ***
58823532-A-T 56767339-T-A ***
58823471-C-T 56767400-G-A ***
58823199-G-A 56767672-C-T ***
58820205-A-T 56770666-T-A ***
58820192-T-G 56770679-A-C ***
58820181-T-C 56770690-A-G ***
28103768-C-T 25957621-C-T P1_Y2 ***
28103742-C-T 25957595-C-T P1_Y2 ***
28103740-A-T 25957593-A-T P1_Y2 ***
58846168-C-T 56744703-G-A ***
58857777-A-C 56733094-T-G ***
58847906-T-A 56742965-A-T ***
58847928-T-C 56742943-A-G ***
28103733-C-T 25957586-C-T P1_Y2 ***
27417794-A-C 25271647-A-C P1_g3 ***
58848010-G-A 56742861-C-T ***
58848304-G-A 56742567-C-T ***
58854222-C-G 56736649-G-C ***
58854392-C-G 56736479-G-C ***
58854782-C-T 56736089-G-A ***
27327894-A-T 25181747-A-T P1_g3 ***
58857766-C-T 56733105-G-A ***
58835838-A-G 56755033-T-C ***
13478482-G-T 11322806-G-T ***
8660569-G-AA 8792528-G-AA ***
58913269-A-G 56677602-T-C ***
22268151-ATGG-GTGA 20106265-ATGG-GTGA DYZ19 ***
17030992-CAAAAAA-C 14919112-CAAAAAA-C 19×A***
17669700-CATAT-C 15557820-CATAT-C 15×AT***
18565061-C-CAAAA 16453181-C-CAAAA 27×A***
18780233-TC-AT 16668353-TC-AT ***
19512249-CATATGTATTTATTTTGTAA-C 17400369-CATATGTATTTATTTTGTAA-C ***
20252796-C-CAAAA 18090910-C-CAAAA P5_Dst 24×A***
20333835-C-CCGCAAAAAAAA 18171949-C-CCGCAAAAAAAA P5_Dst 24×A***
20655022-ATGTG-A 18493136-ATGTG-A P4_Prx 23×TG***
21363090-CA-C 19201204-CA-C 16×A***
21853677-C-CAAAAAAA 19691791-C-CAAAAAAA 43×A***
22234462-GTA-ACT 20072576-GTA-ACT DYZ19 ***
22234486-AAAGTC-GAAATG 20072600-AAAGTC-GAAATG DYZ19 ***
22257262-ATTTACGC-CTTTACGG 20095376-ATTTACGC-CTTTACGG DYZ19 ***
22365618-GC-TG 20203732-GC-TG DYZ19 ***
15491941-GTATATA-G 13380061-GTATATA-G 19×TA***
22420627-CAGA-TAGG 20258741-CAGA-TAGG DYZ19 ***
22421683-TCC-AAG 20259797-TCC-AAG DYZ19 ***
23041233-G-AA 20879347-G-AA ***
23084704-G-GTTTTTTT 20922818-G-GTTTTTTT 19×T***
23311272-CT-C 21149386-CT-C 15×T***
24686428-C-CTTTTT 22540281-C-CTTTTT P3_b2 23×T***
26508369-GA-G 24362222-GA-G P1_Y1 ***
27872479-G-GA 25726332-G-GA P1_Y2 10×A***
58831552-CATTC-GATGA 56759315-GAATG-TCATC ***
58845112-ATTCAATTCCTTTCCA-T 56745744-TGGAAAGGAATTGAAT-A ***
58870564-T-TG 56720306-T-TC ***
58877042-CTCGAA-TTCCAT 56713824-TTCGAG-ATGGAA ***
59007432-CTTT-C 56861285-CTTT-C 18×T***
59007959-C-CAAAAAAAAA 56861812-C-CAAAAAAAAA 26×A***
16768495-CAACAAC-AAAAAAA 14656615-CAACAAC-AAAAAAA ***
14698458-C-CAAAAAAAAAAAAA 12586524-C-CAAAAAAAAAAAAA 19×A***
13203843-ACC-GTG 11048167-ACC-GTG ***
5235405-C-CTTTTT 5367364-C-CTTTTT 31×T***
21177056-T-TTA 19015170-T-TTA 11×TA***
20815462-T-TAC 18653576-T-TAC P4_Gap 12×AC***
4134484-C-CA 4266443-C-CA 18×A***
13474008-CGTA-GGTT 11318332-CGTA-GGTT ***
2968166-GA-G 3100125-GA-G 13×A***
4236304-A-AAT 4368263-A-AAT 9×AT***
13947521-G-GA 11826815-G-GA 13×A***
7155780-T-TA 7287739-T-TA 14×A***
3550569-C-AA 3682528-C-AA ***
5178062-C-CA 5310021-C-CA 20×A***
13684327-TA-AC 11528651-TA-AC ***
25946363-G-A 23800216-G-A P1_Y1 ***
2888870-C-CAAAAAAAA 3020829-C-CAAAAAAAA 32×A***
5458125-CAA-C 5590084-CAA-C 16×A***
13962042-C-CTTTTT 11841336-C-CTTTTT 28×T***
5778393-TGA-T 5910352-TGA-T ***
6473334-G-GA 6605293-G-GA 13×A***
7867879-GGAAAGAAAGAAAGAAA-G 7999838-GGAAAGAAAGAAAGAAA-G 16×GAAA***
8575956-A-ATTTT 8707915-A-ATTTT 28×T***
13203955-CATCATTATGG-GATAATGACGGT 11048279-CATCATTATGG-GATAATGACGGT ***
13255410-GT-G 11099734-GT-G 11×T***
13445373-AAA-G 11289697-AAA-G ***
13453308-CCTTTCCATTG-C 11297632-CCTTTCCATTG-C ***
13453379-CACTCGGGTTGATTCCATTCCTTTCCTATCCATTCT-C 11297703-CACTCGGGTTGATTCCATTCCTTTCCTATCCATTCT-C ***
13465631-AGC-TGA 11309955-AGC-TGA ***
13470330-T-TC 11314654-T-TC ***
13470727-CGGA-TGGG 11315051-CGGA-TGGG ***
13487111-C-GCCT 11331435-C-GCCT ***
13488968-CGGCCTGGG-TGGCGTGGA 11333292-CGGCCTGGG-TGGCGTGGA ***
25946396-C-A 23800249-C-A P1_Y1 ***
22456919-C-A 20295033-C-A DYZ19 ***
25946360-T-A 23800213-T-A P1_Y1 ***
13110570-C-A 10600056-C-A ***
6133856-C-G 6265815-C-G ***
6162299-A-C 6294258-A-C IR3_Dst ***
6358141-C-T 6490100-C-T ***
9032382-G-C 9194773-G-C ***
9536340-C-A 9698731-C-A IR3_Prx ***
9720740-A-G 9883131-A-G IR3_Prx ***
9720743-C-G 9883134-C-G IR3_Prx ***
9720752-T-A 9883143-T-A IR3_Prx ***
9720801-T-A 9883192-T-A IR3_Prx ***
13109969-C-T 10599455-C-T ***
13110043-G-C 10599529-G-C ***
13110089-A-G 10599575-A-G ***
13110127-T-A 10599613-T-A ***
13110584-C-A 10600070-C-A ***
2903298-C-T 3035257-C-T ***
13253750-C-G 11098074-C-G ***
13253924-T-C 11098248-T-C ***
13258690-G-C 11103014-G-C ***
13332909-G-A 11177233-G-A ***
13464190-T-G 11308514-T-G ***
13470298-T-C 11314622-T-C ***
13479734-G-A 11324058-G-A ***
13479781-T-C 11324105-T-C ***
13479794-T-G 11324118-T-G ***
13479802-G-C 11324126-G-C ***
13479802-G-A 11324126-G-A ***
13487115-A-C 11331439-A-C ***
13697720-C-A 11542044-C-A ***
13710303-T-A 11554627-T-A ***
4150894-T-G 4282853-T-G ***
22342796-A-T 20180910-A-T DYZ19 ***
16138803-G-A 14026923-G-A P8_Dst ***
22332925-A-C 20171039-A-C DYZ19 ***
22164547-CA-C 20002661-CA-C 19×A***
22430155-T-C 20268269-T-C DYZ19 ***
13110094-A-C 10599580-A-C A721 ***
22481801-G-C 20319915-G-C DYZ19 ***
13467489-A-C 11311813-A-C ***
22488436-T-A 20326550-T-A DYZ19 ***
58910311-G-T 56680560-C-A ***
13456003-T-A,C 11300327-T-A,C ***
13479228-A-T 11323552-A-T ***
19735972-T-C 17624092-T-C P5_Prx ***
22306375-A-G 20144489-A-G DYZ19 ***
23199656-C-G 21037770-C-G ***
24348659-G-C 22202512-G-C P3_t1 ***
26113823-T-TA 23967676-T-TA P1_Y1 ***
2860458-G-GTTTTT 2992417-G-GTTTTT 18×T***
6162285-C-T 6294244-C-T IR3_Dst ***
22293088-T-G 20131202-T-G DYZ19 ***
13251608-T-C 11095932-T-C ***
22337305-G-T 20175419-G-T DYZ19 ***
58845140-T-G 56745731-A-C ***
22420477-G-A 20258591-G-A DYZ19 ***
22421471-G-T 20259585-G-T DYZ19 ***
13258684-T-G 11103008-T-G ***
13258696-T-C 11103020-T-C ***
22337668-A-T 20175782-A-T DYZ19 ***
22337669-C-T 20175783-C-T DYZ19 ***
13258662-G-T 11102986-G-T ***
5308799-T-G 5440758-T-G 19×AG***
4650522-C-T 4782481-C-T ***
13110088-C-G 10599574-C-G ***
13710347-G-T 11554671-G-T ***
16138811-T-A 14026931-T-A P8_Dst ***
25876998-T-A 23730851-T-A P1_Y1 ***
22456963-A-G 20295077-A-G DYZ19 ***
22342626-A-G 20180740-A-G DYZ19 ***
22342731-G-T 20180845-G-T DYZ19 ***
22342754-T-G 20180868-T-G DYZ19 ***
22355186-G-A 20193300-G-A DYZ19 ***
22365130-A-T 20203244-A-T DYZ19 ***
22365221-G-A 20203335-G-A DYZ19 ***
22365576-G-A 20203690-G-A DYZ19 ***
22366637-G-T 20204751-G-T DYZ19 ***
22420655-T-G 20258769-T-G DYZ19 ***
22420672-G-C 20258786-G-C DYZ19 ***
22420691-G-C 20258805-G-C DYZ19 ***
22420710-G-C 20258824-G-C DYZ19 ***
22421675-A-T 20259789-A-T DYZ19 ***
22234913-C-G 20073027-C-G DYZ19 ***
22457124-C-T 20295238-C-T DYZ19 ***
22337416-C-G 20175530-C-G DYZ19 ***
22480658-A-G 20318772-A-G DYZ19 ***
22480659-T-C 20318773-T-C DYZ19 ***
22488419-G-A 20326533-G-A DYZ19 ***
25200789-G-A 23054642-G-A g1 ***
25289852-C-A 23143705-C-A P2_r1 ***
25430633-G-A 23284486-G-A P2_r2 ***
25805091-C-A 23658944-C-A P1_b3 16×A***
25854790-T-G 23708643-T-G P1_Y1 ***
25854896-A-C 23708749-A-C P1_Y1 ***
25854912-C-A 23708765-C-A P1_Y1 ***
25854917-A-T 23708770-A-T P1_Y1 ***
25854921-C-A 23708774-C-A P1_Y1 ***
25876953-A-G 23730806-A-G P1_Y1 ***
25876995-G-A 23730848-G-A P1_Y1 ***
22337438-C-T 20175552-C-T DYZ19 ***
22337415-C-A 20175529-C-A DYZ19 ***
16364111-T-C 14252231-T-C 11×AC***
20326219-A-G 18164333-A-G P5_Dst ***
18333573-G-T 16221693-G-T P6_Prx ***
18438178-A-G 16326298-A-G P6_Dst ***
18450112-C-T 16338232-C-T P6_Dst ***
18483886-C-T 16372006-C-T P6_Dst ***
19512530-T-A 17400650-T-A ***
19646199-T-C 17534319-T-C P5_Prx ***
19763210-A-C 17651330-A-C P5_Prx ***
19936314-A-T 17824434-A-T P5_Prx ***
19936315-A-T 17824435-A-T P5_Prx ***
19939023-C-T 17827143-C-T P5_Prx ***
19939036-C-A 17827156-C-A P5_Prx ***
20118040-C-T 18006160-C-T P5_Dst ***
20118103-A-T 18006223-A-T P5_Dst ***
20246019-G-A 18084133-G-A P5_Dst ***
20338825-T-A 18176939-T-A P5_Dst ***
22337385-T-A 20175499-T-A DYZ19 ***
20338826-C-A 18176940-C-A P5_Dst ***
20452727-A-T 18290841-A-T P5_Dst ***
20452779-G-C 18290893-G-C P5_Dst ***
22234917-G-A 20073031-G-A DYZ19 ***
22234964-C-T 20073078-C-T DYZ19 ***
22236797-C-G 20074911-C-G DYZ19 ***
22236803-C-A 20074917-C-A DYZ19 ***
22252892-G-T 20091006-G-T DYZ19 ***
22252894-T-G 20091008-T-G DYZ19 ***
22257309-G-C 20095423-G-C DYZ19 ***
22273644-C-G 20111758-C-G DYZ19 ***
22309418-T-C 20147532-T-C DYZ19 ***
22335749-G-T 20173863-G-T DYZ19 ***
22336046-A-T 20174160-A-T DYZ19 ***
59013640-TTTTTT-ATATATA 56867493-TTTTTT-ATATATA ***

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. 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.

Haplotype Progression

The data below reveals the progression of changes in the haplotype. The bottom row is the haplotype for this man and above him are the inferred ancestral haplotypes for various upstream blocks. These inferred haplotypes are very much a work in progress, and any suggested modifications are appreciated. I think we can use our vast collection of haplotype data to refine these haplotypes. Mutations made from each upstream block are shown in sequence. The cell color is determined by the block in which the mutation took place.

DYS393
DYS390
DYS19
DYS391
DYS385
DYS426
DYS388
DYS439
DYS389i
DYS392
DYS389ii
DYS458
DYS459
DYS455
DYS454
DYS447
DYS437
DYS448
DYS449
DYS464
DYS460
Y-GATA-H4
YCAII
DYS456
DYS607
DYS576
DYS570
CDY
DYS442
DYS438
DYS531
DYS578
DYF395S1
DYS590
DYS537
DYS641
DYS472
DYF406S1
DYS511
DYS425
DYS413
DYS557
DYS594
DYS436
DYS490
DYS534
DYS450
DYS444
DYS481
DYS520
DYS446
DYS617
DYS568
DYS487
DYS572
DYS640
DYS492
DYS565
DYS710
DYS485
DYS632
DYS495
DYS540
DYS714
DYS716
DYS717
DYS505
DYS556
DYS549
DYS589
DYS522
DYS494
DYS533
DYS636
DYS575
DYS638
DYS462
DYS452
DYS445
Y-GATA-A10
DYS463
DYS441
Y-GGAAT-1B07
DYS525
DYS712
DYS593
DYS650
DYS532
DYS715
DYS504
DYS513
DYS561
DYS552
DYS726
DYS635
DYS587
DYS643
DYS497
DYS510
DYS434
DYS461
DYS435
P312/S1161324141111-14121212131329179-1011112515192915-15-17-17111119-231615181736-38121211915-1681010810101223-231610121215812222013121113111112123315916122626191211131210912121011113012132413101020151913241712152412231810141791211
L21/S1451324141111-14121212131329179-1011112515192915-15-17-17111119-231615181736-38121211915-1681010810101223-231610121215812222013121113111112123515916122526191211131211912121011113012132413101020151913241712152412231810141791211
Smith1324141111-14121213131329169-1011112515193015-15-17-17111119-231514171734-39131211915-1681010810101223-231610121215811222113121113111112123415918122426191311131211912121011113112122413101020151913241612152412231810141891311

Age Analysis Information (work in progress)

AllMcDonaldYFull
Kit: N554081005798271907047241222
Kit: TDB0O*16000000100000008300000
Used in age calculations16000000100000008300000
Counts of SNPs1613
Variant counts last updated 2017-11-13 20:45:14.

* BED data not available. Using default values.


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