Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > DF49/S474 > Z2980 > Z2976 > DF23 > Z2961 > Z2956 > M222 > Z2959 > Z46375 > DF106 > DF104 > DF105 > ZZ87 > A10642 > FGC9773

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
B258361
28817579-G-A 26671432-G-A A*
6317236-T-C 6449195-T-C IR3_Dst A*
19929016-A-G 17817136-A-G P5_Prx A*
24288167-C-G 22142020-C-G BY2237 P3_t1 A*
6139269-C-T 6271228-C-T IR3_Dst A*
6181616-T-C 6313575-T-C IR3_Dst A*
6225108-A-T 6357067-A-T IR3_Dst A*
20047833-G-A 17935953-G-A P5_Prx A*
20058991-A-G 17947111-A-G P5_Prx A*
20081905-C-T 17970025-C-T P5_Dst A*
22291095-G-A 20129209-G-A DYZ19 A*
2849582-C-T 2981541-C-T YY+
6034466-CCTT-C 6166425-CCTT-C +
6098142-G-T 6230101-G-T FT198090 +
13682178-G-A 11526502-G-A BY88257 +
14874513-A-C 12762583-A-C FT198734 YY+
15686467-C-T 13574587-C-T FT198836 Y+
15749787-C-T 13637907-C-T FT198846 YY+
16260111-C-T 14148231-C-T FT198918 YY+
16822713-A-C 14710833-A-C FT199018 YY+
17587362-G-A 15475482-G-A FT199155 YY+
18774177-C-T 16662297-C-T FT199326 YY+
18815063-T-C 16703183-T-C BY124055 YY+
20826446-C-T 18664560-C-T P4_Gap +
21327316-C-T 19165430-C-T YY+
21372313-C-T 19210427-C-T FT199530 YY+
23347505-A-G 21185619-A-G FT199773 YY+
28769953-T-C 26623806-T-C FT285411 Y+
56838263-C-A *
10899027-C-CTCCAT *
6024491-T-G 6156450-T-G *
6238667-GCA-G 6370626-GCA-G IR3_Dst **
21515891-G-A 19354005-G-A **
22479415-A-G 20317529-A-G BY26571 DYZ19 **
16118570-ATTT-A 14006690-ATTT-A P8_Prx 31×T**
22427922-G-T 20266036-G-T BY158667 DYZ19 **
10942763-A-C **
22303539-G-T 20141653-G-T DYZ19 **
16117960-G-T 14006080-G-T P8_Prx 22×A**
3137658-C-T 3269617-C-T **
3333450-T-G 3465409-T-G **
5600627-T-A 5732586-T-A **
7710346-C-A 7842305-C-A **
8237424-C-T 8369383-C-T **
8785493-T-C 8917452-T-C **
9766624-A-G 9929015-A-G **
9976055-A-T 10138446-A-T **
13387137-G-T 11231461-G-T **
15102513-A-G 12990601-A-G **
17379932-A-G 15268052-A-G **
19646673-C-A 17534793-C-A P5_Prx **
21561440-C-CTTAAT 19399554-C-CTTAAT **
27862535-TGAGAGA-T 25716388-TGAGAGA-T P1_Y2 22×GA***
3757319-T-C 3889278-T-C PF1957Y5787 FGC18297 ***
18963596-G-A 16851716-G-A CTS9561 ***
22271375-T-C 20109489-T-C Z20979 DYZ19 ***
10670998-CTCCATTCCAT-C ***
3603491-ATTTTTTT-A 3735450-ATTTTTTT-A 24×T***
23633371-CTT-C,CTTT 21471485-CTT-C,CTTT 21×T***
28665097-G-T 26518950-G-T ***
5088451-CTT-C,CTTT 5220410-CTT-C,CTTT 27×T***
14680794-GA-G,GAA 12568860-GA-G,GAA 15×A***
13489612-ACCACCCACCCCCACCACCAC-A,ACCACACCCTCACCAACC 11333936-ACCACCCACCCCCACCACCAC-A,ACCACACCCTCACCAACC ***
12374374-A-T ***
14741425-G-A 12629493-G-A ***
17703236-TA-T,TAA 15591356-TA-T,TAA 22×A***
17775003-A-G 15663123-A-G ***
21656824-A-T 19494938-A-T ***
22166535-CTTTTTTTT-C 20004649-CTTTTTTTT-C 29×T***
22303519-G-T 20141633-G-T 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.