Tree Position

R-P312/S116 > Z46521 > Z46516 > 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.

Position Blocks Names Region McDonald BED combBED STRFTDNA
357
YSEQ
2886
Manual
Edits
hg19:Y:59019544-ACACACACAAG-A hg38:Y:56873397-ACACACACAAG-A +
hg19:Y:13446527-CTCCATTCCATTCCATTCCATTCCAT-C hg38:Y:11290851-CTCCATTCCATTCCATTCCATTCCAT-C 16×TCCAT+
hg19:Y:8872506-C-T hg38:Y:9004465-C-T A16975 Y++
hg19:Y:8872507-C-T hg38:Y:9004466-C-T A16976 Y++
hg19:Y:8872512-A-G hg38:Y:9004471-A-G FGC39926 Y++
hg19:Y:13820132-C-T hg38:Y:11699426-C-T FGC39927 DYZ17 ++
hg19:Y:17877561-G-T hg38:Y:15765681-G-T FGC39930 YY++
hg19:Y:22485405-A-G hg38:Y:20323519-A-G FGC39933 DYZ19 ++
hg19:Y:13257289-ATTTT-A hg38:Y:11101613-ATTTT-A 18×T+
hg19:Y:17086602-C-CATAT hg38:Y:14974722-C-CATAT 22×AT+
hg19:Y:13454822-C-CATTCT hg38:Y:11299146-C-CATTCT +
hg19:Y:59034362-A-G hg38:Y:56888215-A-G FGC56496 +
hg19:Y:13454828-A-ATTCCC hg38:Y:11299152-A-ATTCCC +
hg19:Y:16344413-C-CTTCTTT hg38:Y:14232533-C-CTTCTTT +
hg19:Y:13719315-C-G,T hg38:Y:11563639-C-G,T DYZ17 +
hg19:Y:13719565-T-A,G hg38:Y:11563889-T-A,G DYZ17 +
hg19:Y:17522933-A-C hg38:Y:15411053-A-C A16977 Y+
hg19:Y:18848054-G-C hg38:Y:16736174-G-C A16978 Y+
hg19:Y:13205578-TC-T hg38:Y:11049902-TC-T +
hg19:Y:13983560-A-AAGGG hg38:Y:11862854-A-AAGGG +
hg19:Y:14063144-T-TAAGA hg38:Y:11942438-T-TAAGA +
hg19:Y:15263361-T-TTTAAAG hg38:Y:13151451-T-TTTAAAG +
hg19:Y:21251812-C-CA hg38:Y:19089926-C-CA +
hg19:Y:58987805-C-CG hg38:Y:56841658-C-CG +
hg19:Y:59052824-AT-A hg38:Y:56906677-A-. +
hg19:Y:59100911-G-GC hg38:Y:56954763-G-GC +
hg19:Y:59123720-G-GT hg38:Y:56977572-G-GT +
hg19:Y:59131404-TC-T hg38:Y:56985256-T-. +
hg19:Y:59179390-GA-G hg38:Y:57033241-GA-G +
hg19:Y:59186670-GA-G hg38:Y:57040521-GA-G +
hg19:Y:59192795-GT-G hg38:Y:57046646-GT-G +
hg19:Y:59194901-AT-A hg38:Y:57048752-A-. +
hg19:Y:59207213-T-TG hg38:Y:57061064-T-TG +
hg19:Y:59238714-G-GT hg38:Y:57092564-G-GT +
hg19:Y:59250964-G-GC hg38:Y:57104814-G-GC +
hg19:Y:59271124-G-GT hg38:Y:57124974-G-GT +
hg19:Y:59284357-TC-T hg38:Y:57138206-TC-T +
hg19:Y:59288817-TC-T hg38:Y:57142666-TC-T +
hg19:Y:59305734-G-GC hg38:Y:57159583-G-GC +
hg19:Y:59305815-G-GA hg38:Y:57159664-G-GA +
hg19:Y:59307073-C-CG hg38:Y:57160922-C-CG +
hg19:Y:59318158-TC-T hg38:Y:57172007-TC-T +
hg19:Y:59325257-G-GC hg38:Y:57179106-G-GC +
hg19:Y:59340356-AC-A hg38:Y:57194205-AC-A +
hg19:Y:58976187-T-TTCCAC hg38:Y:56830040-T-TTCCAC *
hg19:Y:58972565-T-TATTCC hg38:Y:56826418-T-TATTCC *
hg19:Y:13453449-CATTGT-C hg38:Y:11297773-CATTGT-C *
hg19:Y:13446514-G-GCACTC hg38:Y:11290838-G-GCACTC *
hg19:Y:59013608-G-GTATATA hg38:Y:56867461-G-GTATATA 15×TA*
hg19:Y:3428687-G-GAT,GATAT hg38:Y:3560646-G-GAT,GATAT 22×AT*
hg19:Y:3790878-GTATATATATATA-G,GTATA hg38:Y:3922837-GTATATATATATA-G,GTATA 21×TA*
hg19:Y:5036583-CATATATATAT-C,CATATATAT hg38:Y:5168542-CATATATATAT-C,CATATATAT 27×AT*
hg19:Y:5240956-T-TTCCC,TTCCTTCCC hg38:Y:5372915-T-TTCCC,TTCCTTCCC 5×TCCC*
hg19:Y:5828966-AACACACAC-A,AAC hg38:Y:5960925-AACACACAC-A,AAC 22×AC*
hg19:Y:8747696-T-TGA,TGAGA hg38:Y:8879655-T-TGA,TGAGA 18×GA*
hg19:Y:9524019-GTATATA-G,GTA hg38:Y:9686410-GTATATA-G,GTA 21×TA*
hg19:Y:13138391-ACCATTCCATTCCATTCCATTCCATT-A,ACCATTCCATTCCATTCCATT hg38:Y:10627877-ACCATTCCATTCCATTCCATTCCATT-A,ACCATTCCATTCCATTCCATT 8×CCATT*
hg19:Y:13329879-AATATAT-A,AATAT hg38:Y:11174203-AATATAT-A,AATAT 25×AT*
hg19:Y:13433424-TAAA-T,TAAAAA hg38:Y:11277748-TAAA-T,TAAAAA 10×A*
hg19:Y:13445362-CAAAAAA-C,CAA hg38:Y:11289686-CAAAAAA-C,CAA 15×A*
hg19:Y:13449347-T-TTCCAC hg38:Y:11293671-T-TTCCAC *
hg19:Y:13449892-T-TAC hg38:Y:11294216-T-TAC *
hg19:Y:13450102-CACTCCACTCCACCCCATCCCATCCCATTCT-C hg38:Y:11294426-CACTCCACTCCACCCCATCCCATCCCATTCT-C *
hg19:Y:13811114-G-GAATCA hg38:Y:11690408-G-GAATCA DYZ17 *
hg19:Y:15255769-GGTGTGTGTGTGTGTGTGTGTGT-G,GGTGTGTGTGTGTGTGTGTGT hg38:Y:13143855-GGTGTGTGTGTGTGTGTGTGT-G 24×GT*
hg19:Y:17192970-TACAC-T,TAC hg38:Y:15081090-TACAC-T,TAC 14×AC*
hg19:Y:17313273-CTGTATTGTAT-C,CTGTAT hg38:Y:15201393-CTGTATTGTAT-C,CTGTAT 11×TGTAT*
hg19:Y:17527438-G-GTA,GTATA hg38:Y:15415558-G-GTA,GTATA 18×TA*
hg19:Y:17793864-A-ATCTC hg38:Y:15681984-A-ATCTC *
hg19:Y:18454733-TTTTCTTTC-T,TTTTC hg38:Y:16342853-TTTTCTTTC-T,TTTTC P6_Dst 13×TTTC*
hg19:Y:19309422-C-CAT,CATAT hg38:Y:17197542-C-CAT,CATAT 19×AT*
hg19:Y:26010268-G-GTA,GTATA hg38:Y:23864121-G-GTA,GTATA P1_Y1 21×TA*
hg19:Y:58975081-C-CATTGT hg38:Y:56828934-C-CATTGT *
hg19:Y:58975082-ATTCCATTCCATTCC-A hg38:Y:56828935-ATTCCATTCCATTCC-A *
hg19:Y:58977563-T-TTCCAC hg38:Y:56831416-T-TTCCAC *
hg19:Y:58977569-T-TCCATG hg38:Y:56831422-T-TCCATG *
hg19:Y:58977580-G-GCATTCCCTCCCACGC hg38:Y:56831433-G-GCATTCCCTCCCACGC *
hg19:Y:58978646-C-CTCCACTCCACTCAATTCCAT hg38:Y:56832499-C-CTCCACTCCACTCAATTCCAT *
hg19:Y:58979498-C-CACTGCACTGCACTCCATTCCATTCCATTCT,CATTCCATTCT hg38:Y:56833351-C-CACTGCACTGCACTCCATTCCATTCCATTCT,CATTCCATTCT *
hg19:Y:58979505-C-CTCCGCTCCACACCAT hg38:Y:56833358-C-CTCCGCTCCACACCAT *
hg19:Y:58980541-A-ACTCCATTCCATTCCC hg38:Y:56834394-A-ACTCCATTCCATTCCC *
hg19:Y:58980542-C-CTCCATTCCATTCCAT hg38:Y:56834395-C-CTCCATTCCATTCCAT *
hg19:Y:58980547-C-CTCCACTCCATTCCACTCCACTCCACTCCAT hg38:Y:56834400-C-CTCCACTCCATTCCACTCCACTCCACTCCAT *
hg19:Y:58982670-CTCTT-C hg38:Y:56836523-CTCTT-C *
hg19:Y:59002388-T-TTAA hg38:Y:56856241-T-TTAA *
hg19:Y:59007959-CAAAAAAAAAA-C,CAA hg38:Y:56861812-CAAAAAAAAAA-C,CAA 26×A*
hg19:Y:59022271-CAAAAAAAAAAAAAAAAAAAAA-C,CAAAAAAAAA hg38:Y:56876124-CAAAAAAAAAAAAAAAAAAAAA-C,CAAAAAAAAA 50×A*
hg19:Y:15477203-A-G hg38:Y:13365323-A-G PF4716 YSC0001327 **
hg19:Y:28513523-G-A hg38:Y:26367376-G-A CTS12187 **
hg19:Y:4931224-G-C hg38:Y:5063183-G-C **
hg19:Y:22314410-C-A hg38:Y:20152524-C-A BY217138 DYZ19 ***
hg19:Y:22510571-A-T hg38:Y: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