Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > Z49 > Z142/S211 > Z51 > Z50 > Z57 > Y12119 > FGC58139

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
N70303
20000369-A-G 17888489-A-G E462 P5_Prx A+
19732791-C-G 17620911-C-G P5_Prx A+
7757129-G-GT 7889088-G-GT 9×TA*
56832686-T-C A*
19641938-C-G 17530058-C-G P5_Prx A*
24247368-G-T 22101221-G-T P3_b1 A*
25515874-G-T 23369727-G-T P1_gr1 A*
25603789-A-C 23457642-A-C P1_gr1 A*
28817054-A-T 26670907-A-T A*
23471236-T-G 21309350-T-G BY3194Y111624 YY+
22107634-CGTGT-C 19945748-CGTGT-C 22107634CGTGT-C 17×GT+
17486233-G-C 15374353-G-C FT30544 YY+
19479334-C-T 17367454-C-T FT31059 YY+
10880829-A-G FT435307 +
3328532-A-G 3460491-A-G FT27579 +
3468679-A-G 3600638-A-G FT27635 +
3555709-A-G 3687668-A-G FT27659 +
4142143-C-A 4274102-C-A FT27898 +
4952604-T-C 5084563-T-C FT28200 +
5272445-T-C 5404404-T-C FT28336 +
5294756-C-T 5426715-C-T FT28349 +
5397096-A-G 5529055-A-G FT28389 +
5985804-C-T 6117763-C-T FT28642 +
6145309-A-G 6277268-A-G FT28693 IR3_Dst +
6726535-T-A 6858494-T-A FT28793 Y+
7628710-T-A 7760669-T-A FT28995 YY+
7788699-A-C 7920658-A-C FT29043 YY+
7806350-C-T 7938309-C-T FT29050 YY+
8051319-G-A 8183278-G-A FT75842 YY+
8206862-T-G 8338821-T-G FT29166 YY+
9125893-C-G 9288284-C-G FT29410 Y+
9942666-T-C 10105057-T-C Y+
10684828-C-T FT428974 +
10862933-G-A FT434524 +
10880607-C-T FT435290 +
13655267-G-A 11499591-G-A DYZ17 +
13660386-G-C 11504710-G-C DYZ17 +
13664643-C-A 11508967-C-A DYZ17 +
13890600-G-T 11769894-G-T FT29560 Y+
14091002-G-A 11970296-G-A FT1769 YY+
14152812-C-A 12032106-C-A FT29685 YY+
14431222-G-A 12310495-G-A FT29778 Y+
14476906-T-C 12356175-T-C FT29787 YY+
14508029-C-T 12396234-C-T Y+
15038910-A-AT 12927000-A-AT +
17750743-A-G 15638863-A-G FT30623 YY+
19516490-A-G 17404610-A-G FT31068 YY+
20810267-G-A 18648381-G-A FT283653 P4_Gap +
21395195-G-C 19233309-G-C FT31194 YY+
21875316-A-T 19713430-A-T FT31325 YY+
21899339-G-A 19737453-G-A FT31336 YY+
22464071-C-T 20302185-C-T FT458299 DYZ19 +
22464162-C-G 20302276-C-G BY38273 DYZ19 +
22464173-T-A 20302287-T-A BY38274 DYZ19 +
22464182-C-T 20302296-C-T BY38275 DYZ19 +
22464598-C-T 20302712-C-T FT458408 DYZ19 +
23811978-A-G 21650092-A-G FT31730 Y+
23855159-T-C 21693273-T-C FT31747 Y+
24519898-C-A 22373751-C-A FT31822 +
3663021-A-G 3794980-A-G PF54 *
3663022-T-C 3794981-T-C FT27339FGC45675 *
3663032-T-C 3794991-T-C Y60549 *
18070661-A-ATG 15958781-A-ATG 12×TG*
16774225-TTATC-T 14662345-TTATC-T 5×TATC**
7832220-T-C 7964179-T-C **
7832222-C-T 7964181-C-T **
22318413-A-T 20156527-A-T BY217352 DYZ19 **
13705525-C-T 11549849-C-T DYZ17 **
22446188-T-G 20284302-T-G DYZ19 **
9913614-T-A 10076005-T-A **
4229185-G-A 4361144-G-A **
6018306-TA-T 6150265-TA-T **
8237494-G-A 8369453-G-A **
9913596-T-C 10075987-T-C **
9913603-G-C 10075994-G-C **
9913607-A-G 10075998-A-G **
9913610-G-T 10076001-G-T **
10061962-T-A 10224353-T-A **
10061967-T-C 10224358-T-C **
13222354-G-A 11066678-G-A **
13342878-T-G 11187202-T-G **
13455695-A-G 11300019-A-G **
13455697-TC-T 11300021-TC-T **
13455700-G-GA 11300024-G-GA **
16064665-G-A 13952785-G-A **
16709612-C-T 14597732-C-T **
17786239-C-G 15674359-C-G **
18735634-T-C 16623754-T-C **
22464090-G-T 20302204-G-T BY38271 DYZ19 **
22464091-T-C 20302205-T-C BY38272 DYZ19 **
22464092-T-A 20302206-T-A FT458305 DYZ19 **
22464147-G-A 20302261-G-A FT458320 DYZ19 **
22464150-T-C 20302264-T-C DYZ19 **
22464154-C-A 20302268-C-A FT458322 DYZ19 **
27862552-GAGAGAGAGAGAGAGAGAGAGAGAGAGACAA-G 25716405-GAGAGAGAGAGAGAGAGAGAGAGAGAGACAA-G P1_Y2 **
27862585-GGAGAGAGAGAGA-G 25716438-GGAGAGAGAGAGA-G P1_Y2 9×GA**
28602885-G-A 26456738-G-A **
8125050-A-G 8257009-A-G F16662 ***
8125046-A-AG 8257005-A-AG ***
16227897-AGAAG-A 14116017-AGAAG-A 8×GAAG***
13222368-A-G 11066692-A-G ***
8125042-A-AG 8257001-A-AG ***
3838601-CT-C 3970560-CT-C 31×T***
5225292-GTATA-G 5357251-GTATA-G 12×TA***
4964729-AT-A 5096688-AT-A 34×T***
10655070-ATTC-A ***
19206768-AAAG-A 17094888-AAAG-A ***
13222385-A-C 11066709-A-C ***
5524917-C-CA 5656876-C-CA 9×A***
4836466-GA-G 4968425-GA-G 10×A***
4110105-A-AT 4242064-A-AT 9×T***
24389894-CTTTT-C 22243747-CTTTT-C 26×T***
3270924-ATT-A,AT 3402883-ATT-A,AT 25×T***
13477247-C-T 11321571-C-T ***
13222382-A-G 11066706-A-G ***
20104257-GA-G,GGA 17992377-GA-G,GGA P5_Dst ***
13477247-CA-C 11321571-CA-C ***
3151391-C-T 3283350-C-T ***
3403247-C-A 3535206-C-A ***
4251033-CTTT-C,CT 4382992-CTTT-C,CT 24×T***
4376142-CAAAAAAAAA-C,CAAAAAAAA 4508101-CAAAAAAAAA-C,CAAAAAAAA 26×A***
5960682-G-T 6092641-G-T ***
6040810-AAC-A,AC 6172769-AAC-A,AC ***
6827291-T-C 6959250-T-C ***
9913586-G-A 10075977-G-A ***
10061995-A-T 10224386-A-T ***
10062009-T-A 10224400-T-A ***
10062018-G-T 10224409-G-T ***
13222387-G-A 11066711-G-A ***
13260592-CTTT-C,CT 11104916-CTTT-C,CT 14×T***
13470674-G-T 11314998-G-T ***
13473621-T-C 11317945-T-C ***
13477252-T-TC 11321576-T-TC ***
15002050-ATT-A,ATTT 12890135-ATT-A,ATTT 14×T***
16989916-T-C 14878036-T-C ***
17245704-T-C 15133824-T-C ***
17834290-G-T 15722410-G-T ***
21184528-G-A 19022642-G-A ***
22425990-T-G 20264104-T-G DYZ19 ***
23079174-G-GT 20917288-G-GT ***
28565780-G-T 26419633-G-T ***
28565784-A-C 26419637-A-C ***

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.