Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > S1026 > A1101 > A1105 > BY31364

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 STRBigY3
4498271-A-G 4630230-A-G A*
18318503-C-T 16206623-C-T P6_Prx A*
56831326-C-T A*
18304053-G-C 16192173-G-C P6_Prx A*
18505050-C-G 16393170-C-G P6_Dst A*
19719367-A-G 17607487-A-G P5_Prx A*
19761111-A-G 17649231-A-G P5_Prx A*
19898219-C-T 17786339-C-T P5_Prx A*
19949927-A-C 17838047-A-C P5_Prx A*
19982175-T-C 17870295-T-C P5_Prx A*
20417082-C-T 18255196-C-T P5_Dst A*
25355961-C-T 23209814-C-T P2_r2 A*
25613562-C-G 23467415-C-G P1_gr1 A*
26096832-G-A 23950685-G-A P1_Y1 A*
26271982-C-T 24125835-C-T P1_Y1 A*
26475795-C-T 24329648-C-T P1_Y1 A*
3436442-G-A 3568401-G-A L1230 +
4154912-G-A 4286871-G-A FT244862 +
5315634-C-T 5447593-C-T FGC2821 Z7694 +
17503917-G-T 15392037-G-T FGC38025 Y+
4346696-G-A 4478655-G-A FT364460 +
17192043-G-A 15080163-G-A Y81307Y98425 YY+
3436444-G-A 3568403-G-A FT35716 +
2787892-C-G 2919851-C-G FT364199 YY+
2881999-A-C 3013958-A-C FT364210 YY+
2922228-T-C 3054187-T-C FT364216 +
3030098-T-C 3162057-T-C FT364231 +
3720464-C-T 3852423-C-T FT426058 +
3875212-GAAT-G 4007171-GAAT-G +
4001855-A-G 4133814-A-G FT364399 +
4140072-T-A 4272031-T-A FT364424 +
4501296-T-C 4633255-T-C FT364486 +
4569993-G-T 4701952-G-T FT364494 +
4873857-C-G 5005816-C-G FT364563 +
5045853-T-A 5177812-T-A FT364587 +
5058478-T-A 5190437-T-A FT364591 +
5592614-AAGT-A 5724573-AAGT-A +
5647237-G-T 5779196-G-T FT364714 +
5806441-C-A 5938400-C-A FT364745 +
6371503-C-T 6503462-C-T FT364814 +
7314456-T-G 7446415-T-G FT364933 YY+
7520130-C-A 7652089-C-A FT364959 YY+
7910096-G-T 8042055-G-T FT365015 YY+
8585082-A-G 8717041-A-G FT365100 YY+
8805484-G-A 8937443-G-A FT365139 YY+
13232682-G-A 11077006-G-A BY84778 +
13434937-A-G 11279261-A-G FT443647 +
13949057-C-T 11828351-C-T FT116357 Y+
14050427-C-A 11929721-C-A FT365310 Y+
14834321-A-G 12722388-A-G FT365416 YY+
14846144-C-G 12734210-C-G FT365419 YY+
14848063-A-G 12736129-A-G FT365420 YY+
15321554-T-C 13209672-T-C FT365462 YY+
16242577-G-C 14130697-G-C FT452023 YY+
16280869-C-A 14168989-C-A YY+
16970995-G-T 14859115-G-T FT365696 YY+
17328780-G-A 15216900-G-A FT365743 YY+
17495291-T-C 15383411-T-C FT365776 YY+
18203620-T-C 16091740-T-C FT365877 YY+
18214966-T-C 16103086-T-C FT365879 YY+
18557553-A-G 16445673-A-G FT365902 YY+
18640842-A-G 16528962-A-G FT365911 YY+
18847668-T-A 16735788-T-A FT365935 Y+
18953751-A-G 16841871-A-G FT365950 YY+
21258025-T-A 19096139-T-A FT366070 YY+
21718591-T-C 19556705-T-C FT366148 YY+
21801608-C-T 19639722-C-T BY204226 YY+
22174315-C-G 20012429-C-G FT366220 YY+
22271265-G-C 20109379-G-C FT454295 DYZ19 +
22469548-G-A 20307662-G-A BY222254 DYZ19 +
22659212-T-C 20497326-T-C FT366249 YY+
23302309-C-T 21140423-C-T FT366355 YY+
10816680-G-GCCACT *
22299608-A-T 20137722-A-T DYZ19 *
9414549-C-A 9576940-C-A **
19309422-C-A 17197542-C-A 19×AT**
3240514-T-C 3372473-T-C FT158584 **
3632655-C-T 3764614-C-T **
8136056-G-A 8268015-G-A **
17798215-C-T 15686335-C-T **
18465542-A-G 16353662-A-G P6_Dst **
20748510-G-T 18586624-G-T P4_Prx **
20748575-G-T 18586689-G-T P4_Prx **
21352432-G-T 19190546-G-T **
22362263-A-T 20200377-A-T BY217704 DYZ19 **
22362276-T-G 20200390-T-G BY217708 DYZ19 **
22362286-T-A 20200400-T-A DYZ19 **
23838678-G-T 21676792-G-T **
15844-T-A **
22254042-G-T 20092156-G-T BY13957 DYZ19 ***
17203327-C-CTT 15091447-C-CTT 21×T***
3574203-TA-T 3706162-TA-T 10×A***
21388663-CTCTCT-C,CT 19226777-CTCTCT-C,CT ***
13531753-C-CAA 11376077-C-CAA 23×A***
13484077-A-G 11328401-A-G ***
3466810-AT-A 3598769-AT-A 9×T***
13481414-T-C 11325738-T-C ***
13459254-T-G 11303578-T-G ***
2698154-C-A 2830113-C-A ***
2772579-A-G 2904538-A-G ***
7270276-CTTTTTT-C,CTTTT 7402235-CTTTTTT-C,CTTTT 25×T***
9918502-A-C 10080893-A-C ***
10652214-TTCCAC-T ***
13459863-C-T 11304187-C-T ***
14123246-C-T 12002540-C-T ***
17597154-CTTTT-C,CTTT 15485274-CTTTT-C,CTTT 20×T***
17859585-G-A 15747705-G-A ***
28486223-C-T 26340076-C-T ***
15843-GT-G ***

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.