Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z46512 > FGC78762 > ZZ19 > Z31644 > FGC78763 > FGC13128 > FGC13109 > FGC13133 > FGC13113 > FGC39925 > FGC39932

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
357
YSEQ
2886
Manual
Edits
59019544-ACACACACAAG-A 56873397-ACACACACAAG-A +
13446527-CTCCATTCCATTCCATTCCATTCCAT-C 11290851-CTCCATTCCATTCCATTCCATTCCAT-C 16×TCCAT+
8872506-C-T 9004465-C-T A16975 Y++
8872507-C-T 9004466-C-T A16976 Y++
8872512-A-G 9004471-A-G FGC39926 Y++
13820132-C-T 11699426-C-T FGC39927 ++
17877561-G-T 15765681-G-T FGC39930 YY++
22485405-A-G 20323519-A-G FGC39933 DYZ19 ++
13257289-ATTTT-A 11101613-ATTTT-A 18×T+
17086602-C-CATAT 14974722-C-CATAT 22×AT+
13454822-C-CATTCT 11299146-C-CATTCT +
59034362-A-G 56888215-A-G FGC56496 +
13454828-A-ATTCCC 11299152-A-ATTCCC +
16344413-C-CTTCTTT 14232533-C-CTTCTTT +
13719315-C-G,T 11563639-C-G,T +
13719565-T-A,G 11563889-T-A,G +
17522933-A-C 15411053-A-C A16977 Y+
18848054-G-C 16736174-G-C A16978 Y+
13205578-TC-T 11049902-TC-T +
13983560-A-AAGGG 11862854-A-AAGGG +
14063144-T-TAAGA 11942438-T-TAAGA +
15263361-T-TTTAAAG 13151451-T-TTTAAAG +
21251812-C-CA 19089926-C-CA +
58987805-C-CG 56841658-C-CG +
59052824-AT-A 56906677-A-. +
59100911-G-GC 56954763-G-GC +
59111197-AT-A 56965049-AT-A +
59123720-G-GT 56977572-G-GT +
59131404-TC-T 56985256-T-. +
59179390-GA-G 57033241-GA-G +
59186670-GA-G 57040521-GA-G +
59192795-GT-G 57046646-GT-G +
59194901-AT-A 57048752-A-. +
59207213-T-TG 57061064-T-TG +
59222507-T-TG 57076358-T-TG +
59238714-G-GT 57092564-G-GT +
59250964-G-GC 57104814-G-GC +
59271124-G-GT 57124974-G-GT +
59284357-TC-T 57138206-TC-T +
59288817-TC-T 57142666-TC-T +
59305734-G-GC 57159583-G-GC +
59305815-G-GA 57159664-G-GA +
59307073-C-CG 57160922-C-CG +
59307452-G-GT 57161301-G-GT +
59318158-TC-T 57172007-TC-T +
59325257-G-GC 57179106-G-GC +
59340356-AC-A 57194205-AC-A +
58976187-T-TTCCAC 56830040-T-TTCCAC *
58972565-T-TATTCC 56826418-T-TATTCC *
13453449-CATTGT-C 11297773-CATTGT-C *
13446514-G-GCACTC 11290838-G-GCACTC *
59013608-G-GTATATA 56867461-G-GTATATA 15×TA*
3428687-G-GAT,GATAT 3560646-G-GAT,GATAT 22×AT*
3790878-GTATATATATATA-G,GTATA 3922837-GTATATATATATA-G,GTATA 21×TA*
5036583-CATATATATAT-C,CATATATAT 5168542-CATATATATAT-C,CATATATAT 27×AT*
5240956-T-TTCCC,TTCCTTCCC 5372915-T-TTCCC,TTCCTTCCC 5×TCCC*
5828966-AACACACAC-A,AAC 5960925-AACACACAC-A,AAC 22×AC*
8747696-T-TGA,TGAGA 8879655-T-TGA,TGAGA 18×GA*
9524019-GTATATA-G,GTA 9686410-GTATATA-G,GTA 21×TA*
13138391-ACCATTCCATTCCATTCCATTCCATT-A,ACCATTCCATTCCATTCCATT 10627877-ACCATTCCATTCCATTCCATTCCATT-A,ACCATTCCATTCCATTCCATT 8×CCATT*
13329879-AATATAT-A,AATAT 11174203-AATATAT-A,AATAT 25×AT*
13433424-TAAA-T,TAAAAA 11277748-TAAA-T,TAAAAA 10×A*
13445362-CAAAAAA-C,CAA 11289686-CAAAAAA-C,CAA 15×A*
13449347-T-TTCCAC 11293671-T-TTCCAC *
13449892-T-TAC 11294216-T-TAC *
13450102-CACTCCACTCCACCCCATCCCATCCCATTCT-C 11294426-CACTCCACTCCACCCCATCCCATCCCATTCT-C *
13811114-G-GAATCA 11690408-G-GAATCA *
15255769-GGTGTGTGTGTGTGTGTGTGTGT-G,GGTGTGTGTGTGTGTGTGTGT 13143855-GGTGTGTGTGTGTGTGTGTGT-G 24×GT*
17192970-TACAC-T,TAC 15081090-TACAC-T,TAC 14×AC*
17313273-CTGTATTGTAT-C,CTGTAT 15201393-CTGTATTGTAT-C,CTGTAT 11×TGTAT*
17527438-G-GTA,GTATA 15415558-G-GTA,GTATA 18×TA*
17793864-A-ATCTC 15681984-A-ATCTC *
18454733-TTTTCTTTC-T,TTTTC 16342853-TTTTCTTTC-T,TTTTC P6_Dst 13×TTTC*
19309422-C-CAT,CATAT 17197542-C-CAT,CATAT 19×AT*
26010268-G-GTA,GTATA 23864121-G-GTA,GTATA P1_Y1 21×TA*
58975081-C-CATTGT 56828934-C-CATTGT *
58975082-ATTCCATTCCATTCC-A 56828935-ATTCCATTCCATTCC-A *
58977563-T-TTCCAC 56831416-T-TTCCAC *
58977569-T-TCCATG 56831422-T-TCCATG *
58977580-G-GCATTCCCTCCCACGC 56831433-G-GCATTCCCTCCCACGC *
58978646-C-CTCCACTCCACTCAATTCCAT 56832499-C-CTCCACTCCACTCAATTCCAT *
58979498-C-CACTGCACTGCACTCCATTCCATTCCATTCT,CATTCCATTCT 56833351-C-CACTGCACTGCACTCCATTCCATTCCATTCT,CATTCCATTCT *
58979505-C-CTCCGCTCCACACCAT 56833358-C-CTCCGCTCCACACCAT *
58980541-A-ACTCCATTCCATTCCC 56834394-A-ACTCCATTCCATTCCC *
58980542-C-CTCCATTCCATTCCAT 56834395-C-CTCCATTCCATTCCAT *
58980547-C-CTCCACTCCATTCCACTCCACTCCACTCCAT 56834400-C-CTCCACTCCATTCCACTCCACTCCACTCCAT *
58982670-CTCTT-C 56836523-CTCTT-C *
59002388-T-TTAA 56856241-T-TTAA *
59007959-CAAAAAAAAAA-C,CAA 56861812-CAAAAAAAAAA-C,CAA 26×A*
59022271-CAAAAAAAAAAAAAAAAAAAAA-C,CAAAAAAAAA 56876124-CAAAAAAAAAAAAAAAAAAAAA-C,CAAAAAAAAA 50×A*
15477203-A-G 13365323-A-G PF4716 YSC0001327 **
28513523-G-A 26367376-G-A CTS12187 **
4931224-G-C 5063183-G-C **
22314410-C-A 20152524-C-A BY217138 DYZ19 ***
22510571-A-T 20348685-A-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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual7541500-C-G7673459-C-G4G
Manual15756504-C-A13644624-C-A3A
Manual14252261-A-C12131555-A-C8C