Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z367/S255 > L20/S144 > Z46420 > S3856 > S1505 > BY3579

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
HG01767
Manual
Edits
22362305-C-A 20200419-C-A DYZ19 +
13256857-TG-T 11101181-TG-T +
13820539-C-T 11699833-C-T A14648 +
13611212-C-T 11455536-C-T Z6041 +
13503867-C-A 11348191-C-A +
13414465-A-G 11258789-A-G +
13414450-A-C 11258774-A-C +
13345761-AAAG-A 11190085-AAAG-A +
13304000-A-G 11148324-A-G +
13289600-C-T 11133924-C-T FT59733 +
13267608-AGG-A 11111932-AGG-A +
13129022-G-A 10618508-G-A +
15114893-G-T 13002980-G-T YY+
7613833-G-GAAA 7745792-G-GAAA 31×A+
7001968-G-C 7133927-G-C M8974 Y+
6610100-GA-G 6742059-GA-G 9×A+
6515573-A-ATTT 6647532-A-ATTT 10×T+
6400959-T-A 6532918-T-A +
5941396-G-A 6073355-G-A +
5846180-G-GAAAAA 5978139-G-GAAAAA 39×A+
5584785-T-C 5716744-T-C FT324391 +
5499855-G-A 5631814-G-A FT324111 +
13931984-A-C 11811278-A-C Y+
16545643-TA-T 14433763-TA-T +
5263800-G-A 5395759-G-A +
22465051-A-C 20303165-A-C DYZ19 +
27617573-G-A 25471426-G-A P1_Y2 14×A+
26699230-A-C 24553083-A-C P1_g2 20×AC+
26248917-C-CA 24102770-C-CA P1_Y1 +
25647030-A-C 23500883-A-C P1_b3 22×AC+
24363629-CTCTCT-C 22217482-CTCTCT-C +
23036699-AG-A 20874813-AG-A +
22792261-C-A 20630375-C-A YY+
22506149-G-C 20344263-G-C FGC8104 DYZ19 +
22489235-C-G 20327349-C-G DYZ19 +
22208865-T-TA 20046979-T-TA +
16608706-GAC-G 14496826-GAC-G +
22189230-C-CA 20027344-C-CA +
21364844-T-C 19202958-T-C F24219 YY+
21186630-G-A 19024744-G-A YY+
20778687-C-T 18616801-C-T P4_Prx +
19478117-T-G 17366237-T-G FT400466 YY+
17998060-G-GT 15886180-G-GT P7_Gap +
17313248-C-T 15201368-C-T YY+
17119753-T-A 15007873-T-A Z5944 YY+
16860778-A-G 14748898-A-G YY+
5352969-A-C 5484928-A-C FT323627 +
5261762-C-A 5393721-C-A +
28794991-C-G 26648844-C-G +
14571606-G-A 12459806-G-A FT300971 YY+
23445495-C-T 21283609-C-T FT69171 YY+
19435311-C-A 17323431-C-A Y+
18961380-A-G 16849500-A-G FT302024 YY+
18743609-C-T 16631729-C-T YY+
17316943-A-G 15205063-A-G FT301598 YY+
17143885-G-T 15032005-G-T YY+
17066969-A-G 14955089-A-G Y+
16231544-A-C 14119664-A-C FT301340 YY+
16223112-A-C 14111232-A-C FT301337 YY+
14115581-A-C 11994875-A-C FT300806 YY+
23971961-G-A 21825814-G-A FT303014 Y+
9115444-C-T 9277835-C-T FT300637 Y+
8261954-T-A 8393913-T-A FT300382 YY+
7288350-C-T 7420309-C-T FT300096 YY+
13877975-G-A 11757269-G-A A13701 Y+
22476917-C-A 20315031-C-A Z25526 DYZ19 +
13416135-T-G 11260459-T-G +
9215472-A-G 9377863-A-G Y+
13877960-T-A 11757254-T-A A13700 Y+
6293362-TG-T 6425321-TG-T IR3_Dst +
23483989-C-A 21322103-C-A FT302909 YY+
28639334-G-A 26493187-G-A +
5248638-TC-T 5380597-TC-T +
3998068-T-A 4130027-T-A +
5022098-T-A 5154057-T-A +
4577955-G-C 4709914-G-C FT321098 +
4548597-C-T 4680556-C-T +
4544717-T-A 4676676-T-A +
4525670-G-A 4657629-G-A +
4480829-T-G 4612788-T-G +
4427756-A-G 4559715-A-G FT320603 +
4115880-A-G 4247839-A-G FT319562 +
4006999-T-G 4138958-T-G +
3835151-T-G 3967110-T-G +
28703450-T-C 26557303-T-C Y+
3737921-G-A 3869880-G-A FT318320 +
3229154-C-A 3361113-C-A FT45637 20×A+
3174374-C-T 3306333-C-T 18×T+
3124137-T-C 3256096-T-C FT316169 +
2992426-A-C 3124385-A-C +
22282105-C-T 20120219-C-T DYZ19 +
22282084-C-A 20120198-C-A DYZ19 +
13508957-T-C 11353281-T-C +
20778685-T-C 18616799-T-C BY49240 FGC78373 P4_Prx +
28721006-T-C 26574859-T-C FT303141 +
28523799-G-T 26377652-G-T +

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
Manual21527519-T-TA19365633-T-TA4 reads, all match the hg19 reference sequence.
Manual6229046-T-G6361005-T-G2T 2G
Manual20052507-T-C17940627-T-C2T 2C
Manual23629706-C-T21467820-C-T1T 1G. The read with 'G' looks to be a poor fit to this position.



Big Tree Main Page