Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z2573 > FT185461

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
IN84784
24338710-A-G 22192563-A-G P3_t1 A+
22289755-G-A 20127869-G-A DYZ19 A*
22231963-G-A 20070077-G-A DYZ19 A*
13478003-C-G 11322327-C-G A*
13478031-C-T 11322355-C-T A*
13699495-G-A 11543819-G-A A*
19855771-C-T 17743891-C-T P5_Prx A*
20702826-G-T 18540940-G-T P4_Prx A*
20740296-C-T 18578410-C-T P4_Prx A*
22264621-G-T 20102735-G-T DYZ19 A*
25980038-A-G 23833891-A-G P1_Y1 A*
26243543-A-G 24097396-A-G P1_Y1 A*
28616637-C-T 26470490-C-T +
10007034-G-A 10169425-G-A Y+
2952592-C-T 3084551-C-T FT378716 +
3592996-A-C 3724955-A-C FT378810 +
3748342-T-C 3880301-T-C FT378836 +
3802550-C-T 3934509-C-T FT378848 +
5039934-C-T 5171893-C-T FT379047 +
5254032-T-G 5385991-T-G FT379082 +
5714135-T-C 5846094-T-C FT379165 +
6006021-T-C 6137980-T-C FT379214 +
6807444-C-T 6939403-C-T FT377177 YY+
7971800-A-G 8103759-A-G FT377340 YY+
8148040-G-C 8279999-G-C FT377363 YY+
8357953-T-G 8489912-T-G FT377390 YY+
9124682-C-T FT377471 +
9816527-CT-C 9978918-CT-C +
10751803-C-A FT429630 +
10916616-G-C FT436440 +
13513073-C-T 11357397-C-T BY86346 +
13864885-G-T 11744179-G-T FT379347 +
13946168-T-G 11825462-T-G FT377535 YY+
14231190-A-G 12110484-A-G FT377589 YY+
14664267-C-G 12552333-C-G FT377661 YY+
14811973-G-C 12700044-G-C FT377679 YY+
15067613-A-G 12955704-A-G FT377705 YY+
15136673-C-G 13024760-C-G FT377715 YY+
15677565-A-T 13565685-A-T Y+
15847311-G-A 13735431-G-A FT377798 YY+
16460712-G-T 14348832-G-T FT377869 YY+
16546170-C-T 14434290-C-T BY199422 YY+
16573126-C-T 14461246-C-T FT377882 Y+
17326491-A-G 15214611-A-G FT377982 YY+
17337098-A-G 15225218-A-G FT377983 YY+
17584885-C-T 15473005-C-T FT378028 YY+
17934341-A-G 15822461-A-G FT378088 YY+
18008002-T-A 15896122-T-A FT379385 P7_Gap Y+
18117190-C-T 16005310-C-T FT378112 YY+
18220397-C-T 16108517-C-T BY17413 Y+
18898456-A-G 16786576-A-G FT378186 YY+
19075533-G-A 16963653-G-A FT378212 YY+
22436957-C-T 20275071-C-T FT456083 DYZ19 +
22473864-G-T 20311978-G-T BY223004 DYZ19 +
22476236-G-A 20314350-G-A BY157055 DYZ19 +
23293387-C-T 21131501-C-T FT378569 YY+
23991922-C-G 21845775-C-G FT378635 Y+
28501213-G-A 26355066-G-A FT378663 +
4049635-G-C 4181594-G-C *
4630756-T-TTTTTGTTTTG 4762715-T-TTTTTGTTTTG 8×TTTTG*
6389866-C-T 6521825-C-T *
22255768-T-C 20093882-T-C DYZ19 *
22318957-G-A 20157071-G-A DYZ19 *
26495709-T-G 24349562-T-G P1_Y1 *
22100853-G-A 19938967-G-A **
18050030-G-C 15938150-G-C **
4730829-C-T 4862788-C-T **
4781372-A-T 4913331-A-T **
6787066-C-T 6919025-C-T **
7447030-T-A 7578989-T-A IR1_L **
7870618-T-A 8002577-T-A **
8966907-C-T 9129298-C-T **
9949058-G-A 10111449-G-A **
11025573-C-T **
13361229-T-C 11205553-T-C **
13453493-C-A 11297817-C-A **
11653786-CGAATGGAATGGAATG-C **
12372164-G-A **
15658182-A-G 13546302-A-G **
16083154-A-G 13971274-A-G **
16702166-A-C 14590286-A-C **
19505260-C-T 17393380-C-T **
19892868-GTT-G 17780988-GTT-G P5_Prx 31×T**
21151688-C-T 18989802-C-T **
21272828-G-A 19110942-G-A **
22252078-G-C 20090192-G-C DYZ19 **
22300806-G-T 20138920-G-T DYZ19 **
22441201-T-A 20279315-T-A DYZ19 **
5962148-ATG-A 6094107-ATG-A ***
21238805-C-A 19076919-C-A ***
28764026-CA-C 26617879-CA-C 10×A***
13446527-CTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCAT-C 11290851-CTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCCAT-C 16×TCCAT***
16760884-C-CAA 14649004-C-CAA 16×A***
19520845-TAAAA-T,TAAA 17408965-TAAAA-T,TAAA 21×A***
15221400-G-A 13109486-G-A ***
10999905-AT-A ***
18423887-CA-C,CAA 16312007-CA-C,CAA P6_Gap 15×A***
17226242-T-A 15114362-T-A ***
24904674-GT-G,GTT 22758527-GT-G,GTT g1 21×T***
2698112-T-C 2830071-T-C ***
3072656-G-A 3204615-G-A ***
3869318-T-C 4001277-T-C ***
4516443-C-T 4648402-C-T ***
5836034-T-TGG 5967993-T-TGG 12×G***
6008157-C-T 6140116-C-T ***
7075240-C-CAAA 7207199-C-CAAA 17×A***
16352456-CAAAAA-C 14240576-CAAAAA-C 21×A***
16709909-A-G 14598029-A-G ***
19547542-G-A 17435662-G-A ***
21639038-TAAA-T,TAA 19477152-TAAA-T,TAA 25×A***
22263427-T-C 20101541-T-C DYZ19 ***

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.