Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > Z49 > Z142/S211 > Z150 > CTS9490 > Y17091 > Exact position not yet finalized.

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 STR1kG
NA20812
Manual
Edits
13689140-A-G 11533464-A-G BY88546 DYZ17 +
59033463-G-A 56887316-G-A +
23881858-T-C 21719972-T-C Z2884 Y+
8389569-C-T 8521528-C-T YY25×T+
24419776-C-T 22273629-C-T BY357A4666 FGC35615 Y+
26325267-T-A 24179120-T-A Z5834 P1_Y1 +
6401064-G-A 6533023-G-A FT326427 +
13699777-A-T 11544101-A-T DYZ17 +
14109316-C-T 11988610-C-T Y90345 YY14×T+
6673834-TA-T 6805793-TA-T 10×A+
21844894-T-TA 19683008-T-TA 9×A+
2888614-C-T 3020573-C-T FGC16203 Y8816 F8520 YY+
7075746-G-A 7207705-G-A FGC29227 YY+
7369208-G-A 7501167-G-A CTS1375 Y+
7527930-G-A 7659889-G-A F978 YY+
7591216-A-T 7723175-A-T A9065FGC15167 YY+
7593474-T-A 7725433-T-A FT289424 YY+
7862464-T-C 7994423-T-C YY+
7963020-T-G 8094979-T-G FT289538 YY+
8852689-C-T 8984648-C-T FT289826 YY+
9885854-A-G 10048245-A-G Z2738 YY+
17500261-C-A 15388381-C-A FT291114 Y+
17826567-C-T 15714687-C-T FT291223 Y+
17833254-T-C 15721374-T-C FT291225 YY+
18570517-C-T 16458637-C-T FT291415 YY+
19068002-G-T 16956122-G-T FT291573 YY+
19198116-A-G 17086236-A-G FT291621 YY+
21648988-G-A 19487102-G-A FT292037 YY+
21697354-C-T 19535468-C-T FT292055 YY+
23046901-G-C 20885015-G-C FT292403 YY+
23869618-T-C 21707732-T-C FT292647 Y+
28691900-T-A 26545753-T-A 13×A+
13358667-C-A 11202991-C-A +
13441273-A-G 11285597-A-G +
22767531-T-G 20605645-T-G YY+
13433889-T-G 11278213-T-G +
13530113-G-A 11374437-G-A +
13641249-G-A 11485573-G-A FT446909 +
28577664-C-T 26431517-C-T +
15750520-TC-T 13638640-TC-T +
2783725-AC-A 2915684-AC-A +
2806181-A-C 2938140-A-C YY+
2821375-T-TA 2953334-T-TA +
2856781-TC-T 2988740-TC-T +
3121853-T-C 3253812-T-C FT316163 +
3446607-C-CAAA 3578566-C-CAAA 25×A+
3550569-CAACT-C 3682528-CAACT-C +
3567862-C-G 3699821-C-G +
3830004-T-C 3961963-T-C FTB8546 +
3830006-A-C 3961965-A-C +
4056447-A-G 4188406-A-G FT319384 +
4213186-G-T 4345145-G-T 15×T+
4424172-A-G 4556131-A-G +
4896649-C-A 5028608-C-A 16×A+
5413591-A-C 5545550-A-C +
5493426-C-T 5625385-C-T +
5493431-C-T 5625390-C-T Y60653 24×T+
5787006-C-T 5918965-C-T +
5941749-A-T 6073708-A-T ZS49 +
6052775-G-C 6184734-G-C FT184780 +
6074676-G-GTA 6206635-G-GTA +
6091577-C-T 6223536-C-T +
6091640-T-C 6223599-T-C +
6808188-A-C 6940147-A-C YY+
7252376-T-TA 7384335-T-TA +
7270241-A-C 7402200-A-C YY+
7270247-A-C 7402206-A-C YY+
7514181-G-A 7646140-G-A Y12×A+
7598036-A-C 7729995-A-C YY+
7601007-G-GA 7732966-G-GA +
8389554-T-A 8521513-T-A YY+
8392807-A-G 8524766-A-G FT289673 YY+
8462091-G-A 8594050-G-A YY+
8462097-C-T 8594056-C-T YY+
8462103-G-A 8594062-G-A YY+
8466114-C-G 8598073-C-G FT350940 YY+
8498327-A-C 8630286-A-C YY+
8723746-G-A 8855705-G-A YY14×A+
8740693-A-T 8872652-A-T Y+
9839582-T-G 10001973-T-G YY+
13223678-T-G 11068002-T-G +
13242241-C-T 11086565-C-T 21×T+
13261921-G-T 11106245-G-T +
13273402-A-G 11117726-A-G +
13273416-G-A 11117740-G-A FT442188 +
13297479-GGTAA-G 11141803-GGTAA-G +
13346424-A-G 11190748-A-G +
13347198-T-C 11191522-T-C +
13347910-A-T 11192234-A-T +
13347978-G-C 11192302-G-C +
13373761-C-T 11218085-C-T +
13375982-A-C 11220306-A-C +
13388708-A-G 11233032-A-G +
13394852-GC-G 11239176-GC-G +
13394877-T-C 11239201-T-C +
13402151-A-G 11246475-A-G +
13402160-A-C 11246484-A-C +
13433866-C-T 11278190-C-T +
13441255-T-TA 11285579-T-TA +
13487849-G-T 11332173-G-T +
13502112-C-T 11346436-C-T +
13623180-C-T 11467504-C-T +
13843928-T-A 11723222-T-A FT387080 DYZ17 +
13884506-A-G 11763800-A-G Y+
13884507-A-G 11763801-A-G Y+
13944116-A-T 11823410-A-T Y+
13944117-A-G 11823411-A-G Y+
14059218-C-A 11938512-C-A FT76166 YY+
14101342-TCTC-T 11980636-TCTC-T +
14143980-A-C 12023274-A-C YY+
14739830-C-T 12627898-C-T Y+
14795076-C-T 12683147-C-T Y+
14795080-C-T 12683151-C-T FT335774 Y24×T+
14881718-GTGT-G 12769786-GTGT-G +
15049911-T-C 12938002-T-C YY+
15276877-T-C 13164966-T-C YY+
15335199-C-G 13223317-C-G YY+
15363932-C-G 13252052-C-G YY+
15404594-T-C 13292714-T-C FT290475 YY+
15542656-T-A 13430776-T-A YY+
15733908-G-A 13622028-G-A Y+
15863183-G-A 13751303-G-A YY+
16012889-A-C 13901009-A-C Y+
16250669-C-T 14138789-C-T YY+
16409062-T-G 14297182-T-G YY+
17144176-G-A 15032296-G-A CTS6847 YY+
17299917-GATAC-G 15188037-GATAC-G +
17826905-A-C 15715025-A-C M12080 Y+
18001466-G-A 15889586-G-A P7_Gap Y+
18001470-C-T 15889590-C-T P7_Gap Y+
18162911-G-T 16051031-G-T YY+
18414417-G-A 16302537-G-A P6_Gap +
18855776-T-G 16743896-T-G YY+
18857003-G-C 16745123-G-C YY+
19183496-A-C 17071616-A-C Y+
19202982-G-A 17091102-G-A M2599 YY+
19247433-AAG-A 17135553-AAG-A +
19409424-C-A 17297544-C-A YY+
20252790-G-GAA 18090904-G-GAA P5_Dst +
20252794-T-TA 18090908-T-TA P5_Dst +
21553362-G-T 19391476-G-T Y+
21690909-C-A 19529023-C-A YY14×A+
21700595-G-A 19538709-G-A YY17×A+
22023197-G-T 19861311-G-T YY+
22150603-G-A 19988717-G-A Y+
22222328-G-T 20060442-G-T DYZ19 +
22258167-AG-A 20096281-AG-A DYZ19 +
22296489-T-C 20134603-T-C BY28385 DYZ19 +
22440113-A-C 20278227-A-C BY218744 DYZ19 +
22446166-C-T 20284280-C-T DYZ19 +
22488997-C-T 20327111-C-T Z20186 DYZ19 +
22920630-T-TTTTG 20758744-T-TTTTG +
22950169-A-C 20788283-A-C YY+
22995996-G-A 20834110-G-A YY+
23082759-T-C 20920873-T-C FT292421 Y+
23082781-C-A 20920895-C-A FT292422 Y+
23196626-TTA-T 21034740-TTA-T +
23435671-A-C 21273785-A-C YY+
23505158-C-A 21343272-C-A YY20×A+
24419898-G-A 22273751-G-A Y+
24600386-C-T 22454239-C-T P3_t2 +
26834817-AGAAG-A 24688670-AGAAG-A P1_g2 +
27453798-A-T 25307651-A-T P1_Y2 +
27937226-T-G 25791079-T-G P1_Y2 +
28385993-T-C 26239846-T-C P1_gr2 +
28533758-T-G 26387611-T-G Y+
28577682-G-A 26431535-G-A +
28577695-C-T 26431548-C-T +
28726259-A-G 26580112-A-G Y+
28761439-C-T 26615292-C-T +
59019543-CACACACACAA-C 56873396-CACACACACAA-C +
59032253-A-AAAACAAAAAAAAAACT 56886106-A-AAAACAAAAAAAAAACT +
59032254-C-CTT 56886107-C-CTT +

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
Manual21842995-G-A19681109-G-A1A
Manual22279202-C-G20117316-C-G9C 6G