Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > S450 > Z295/S1217 > ZZ77 > Z216 > S452 > ZZ82 > Z697 > Z214 > Z279 > CTS8087 > Z29689 > 7371145-C-G > 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
24417102-G-GGA 22270955-G-GGA +
7269632-TGC-T 7401591-TGC-T +
21170503-T-G 19008617-T-G YY+
13618653-G-A 11462977-G-A +
15260684-C-CTTTTTT 13148768-C-CTTTTTT 25×T+
14007942-C-A 11887236-C-A YY15×A+
7996754-C-T 8128713-C-T FT300305 YY+
8060875-A-C 8192834-A-C FT300323 YY+
8658845-G-A 8790804-G-A BY75007 YY+
8745981-A-C 8877940-A-C FT300528 YY+
8749638-A-C 8881597-A-C BY75603 YY+
14114701-T-C 11993995-T-C FTB21275 Y+
14644048-T-C 12532117-T-C FT300980 YY+
15055843-A-C 12943935-A-C CTS3598 YY+
15067150-G-T 12955241-G-T FT301073 YY+
16441015-T-G 14329135-T-G CTS5700 YY+
16818590-C-A 14706710-C-A CTS6320 YY+
17007094-A-C 14895214-A-C FGC8665 YY+
21317274-G-T 19155388-G-T FT302302 YY+
22727125-G-A 20565239-G-A YY11×A+
23141201-C-T 20979315-C-T FT381464 YY+
23433110-A-G 21271224-A-G Z23637 YY+
28747934-G-A 26601787-G-A FT285186 +
14926502-A-T 12814567-A-T YY+
6231241-GCA-G 6363200-GCA-G IR3_Dst 18×CA+
2729648-C-CTTT 2861607-C-CTTT 25×T+
2859987-C-T 2991946-C-T YY16×T+
2915052-TTTCC-T 3047011-TTTCC-T +
3030283-A-C 3162242-A-C +
3047197-A-C 3179156-A-C +
3229153-AC-A 3361112-AC-A +
4221783-G-A 4353742-G-A FGC55187 +
4446798-G-A 4578757-G-A FT320676 +
4581076-T-C 4713035-T-C FT321108 +
4663071-C-T 4795030-C-T +
4778193-AG-A 4910152-AG-A +
5330059-A-G 5462018-A-G +
5702618-AAC-A 5834577-AAC-A +
5702619-AC-A 5834578-AC-A +
5986784-G-T 6118743-G-T +
6447773-TG-T 6579732-TG-T +
6698849-G-T 6830808-G-T YY+
6768761-AG-A 6900720-AG-A +
7076641-ATAC-A 7208600-ATAC-A +
7146794-TG-T 7278753-TG-T +
7483599-A-G 7615558-A-G IR1_L +
7758508-TC-T 7890467-TC-T +
8232960-A-AT 8364919-A-AT +
8740693-A-T 8872652-A-T Y+
9125891-A-C 9288282-A-C Y+
9909073-G-C 10071464-G-C Y+
13143331-A-ATTT 10632817-A-ATTT +
13354609-C-A 11198933-C-A +
13371304-T-G 11215628-T-G +
13414678-A-T 11259002-A-T +
13414691-A-T 11259015-A-T +
13428619-A-G 11272943-A-G +
13442410-T-C 11286734-T-C FT443692 +
13824636-G-A 11703930-G-A FT59271 +
13945182-TTC-T 11824476-TTC-T +
13964484-G-GCGCA 11843778-G-GCGCA +
13964485-T-C 11843779-T-C M9684 Y+
13964488-A-ACGCG 11843782-A-ACGCG +
14026986-T-TATCTATC 11906280-T-TATCTATC +
14128251-A-C 12007545-A-C YY+
14981886-CT-C 12869954-CT-C +
15259276-T-A 13147360-T-A YY+
15512640-G-A 13400760-G-A YY+
15542658-C-A 13430778-C-A YY16×A+
15604374-AG-A 13492494-AG-A +
16977463-T-C 14865583-T-C Y+
19206738-AGGT-A 17094858-AGGT-A +
21523761-G-A 19361875-G-A Y+
21620553-TATACC-T 19458667-TATACC-T +
22238708-C-G 20076822-C-G DYZ19 +
22253000-G-T 20091114-G-T DYZ19 +
22460462-T-C 20298576-T-C BY49319 DYZ19 +
22473501-T-C 20311615-T-C DYZ19 +
22802868-A-ATTTTTTT 20640982-A-ATTTTTTT 32×T+
22823284-C-A 20661398-C-A CTS10891 YY+
23013803-A-C 20851917-A-C YY+
23084702-GC-G 20922816-GC-G +
23084703-CG-C 20922817-CG-C +
23162507-G-T 21000621-G-T CTS11564 Y+
24127500-C-A 21981353-C-A P3_b1 +
28236703-A-C 26090556-A-C P1_b4 +
58903327-G-T 56687544-C-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:

Manual20908144-A-G18746258-A-G1A 1G
Manual22233815-A-T20071929-A-T6T 1N 2A