Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > Z49 > A21822 > P37

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
433214
9131518-A-G 9293909-A-G FGC9656 YP4158 Y+
8682970-T-A 8814929-T-A FGC45484ZS6908 YY+
9850123-C-T 10012514-C-T BY42854 YY+
6848032-G-T 6979991-G-T BY42687 YY+
7382644-C-T 7514603-C-T BY64867 YY+
8179807-G-A 8311766-G-A BY42750 FT67232 YY+
8266753-G-T 8398712-G-T BY71294 YY+
8388018-A-C 8519977-A-C BY72220 YY+
8421403-C-A 8553362-C-A BY72565 YY+
8467246-G-C 8599205-G-C BY73065 YY+
8768625-A-G 8900584-A-G BY75743 YY+
9850113-C-T 10012504-C-T BY42851 YY+
9850115-G-A 10012506-G-A BY42852 YY+
9850120-G-C 10012511-G-C BY42853 YY+
13820104-T-G 11699398-T-G BY90519 +
14723204-T-C 12611272-T-C BY97279 YY+
15317831-G-A 13205937-G-A BY100794 YY+
15365421-C-A 13253541-C-A BY101149 YY+
16292220-AAAT-A 14180340-AAAT-A +
16325156-G-A 14213276-G-A BY106914 YY+
16461616-A-G 14349736-A-G BY43442 YY+
16602412-G-A 14490532-G-A BY108921 YY+
17518346-A-C 15406466-A-C BY43483 YY+
18203630-C-T 16091750-C-T BY120823 YY+
18731640-G-GA 16619760-G-GA 9×A+
18764696-T-A 16652816-T-A BY123720 YY+
19005503-G-C 16893623-G-C BY125455 YY+
19169728-G-A 17057848-G-A BY126926 Y+
19221424-A-AT 17109544-A-AT +
19292835-C-A 17180955-C-A BY128027 YY+
21456848-C-A 19294962-C-A BY55254 YY+
21663561-G-C 19501675-G-C BY43626 YY+
21721993-A-G 19560107-A-G BY134972 YY+
21769530-AAG-A 19607644-AAG-A +
22461705-A-C 20299819-A-C BY43905 DYZ19 +
22470594-G-T 20308708-G-T DYZ19 +
22566059-T-A 20404173-T-A BY44127 YY+
23058908-A-AT 20897022-A-AT +
23231996-T-C 21070110-T-C BY143847 Y+
23242305-C-T 21080419-C-T BY44178 YY+
23731778-A-T 21569892-A-T BY147182 +
22325173-C-T 20163287-C-T FGC35107 DYZ19 **
17839981-A-G 15728101-A-G CTS8116 **
22470585-T-A 20308699-T-A DYZ19 **
10036243-G-A 10198634-G-A BY83266 **
22470587-T-G 20308701-T-G DYZ19 **
13817248-G-A 11696542-G-A FGC49975 ***
22425775-C-A 20263889-C-A S5488 DYZ19 ***
22425208-C-T 20263322-C-T DYZ19 ***
22260048-T-G 20098162-T-G DYZ19 ***
26243346-G-GAAGC 24097199-G-GAAGC P1_Y1 5×AAGC***
6330271-G-A 6462230-G-A IR3_Dst ***
6344369-A-T 6476328-A-T ***
7494533-C-T 7626492-C-T IR1_L ***
18392975-CCTTTCTTTCTTTCTTTCTTT-C 16281095-CCTTTCTTTCTTTCTTTCTTT-C P6_Gap 15×CTTT***
19837340-C-T 17725460-C-T P5_Prx ***
19966561-A-G 17854681-A-G BY212023 P5_Prx 6×AGAAGG***
20032187-C-A 17920307-C-A BY12894 P5_Prx ***
20053256-G-A 17941376-G-A P5_Prx ***
20681268-C-T 18519382-C-T P4_Prx ***
21152688-G-C 18990802-G-C FT284051 ***
22231265-G-A 20069379-G-A DYZ19 ***
22231636-G-A 20069750-G-A DYZ19 ***
22247983-G-A 20086097-G-A DYZ19 ***
22249780-TG-T 20087894-TG-T DYZ19 ***
22249782-G-C 20087896-G-C DYZ19 ***
22276579-G-T 20114693-G-T DYZ19 ***
22298737-A-G 20136851-A-G DYZ19 ***
22299362-C-A 20137476-C-A DYZ19 ***
22437747-C-A 20275861-C-A DYZ19 ***
22459013-G-T 20297127-G-T DYZ19 ***
22475117-T-A 20313231-T-A BY223289 DYZ19 ***
22475118-C-A 20313232-C-A BY223290 DYZ19 ***
23702547-A-G 21540661-A-G ***
24167196-G-T 22021049-G-T P3_b1 ***
24197294-C-T 22051147-C-T P3_b1 ***
24206258-C-T 22060111-C-T P3_b1 ***
24213454-A-G 22067307-A-G P3_b1 ***
24337937-C-G 22191790-C-G P3_t1 ***
24916180-A-G 22770033-A-G g1 ***
24959834-T-C 22813687-T-C g1 ***
25883495-C-T 23737348-C-T P1_Y1 ***
25907349-G-A 23761202-G-A P1_Y1 ***
26264279-C-T 24118132-C-T P1_Y1 ***

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.