Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF63/S522 > BY592 > CTS5454 > A7810

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
27567147-G-GAA 25421000-G-GAA P1_Y2 11×AA+
58977032-A-G 56830885-A-G A*
58984673-G-A 56838526-G-A A*
59026669-G-C 56880522-G-C A*
26249820-A-AC 24103673-A-AC P1_Y1 9×CA*
24250177-G-A 22104030-G-A P3_b1 A*
56837064-T-A A*
6247685-A-G 6379644-A-G IR3_Dst A*
7476630-C-T 7608589-C-T IR1_L A*
13687029-A-G 11531353-A-G A*
18329606-T-A 16217726-T-A P6_Prx A*
18480324-T-A 16368444-T-A P6_Dst A*
19777304-A-G 17665424-A-G P5_Prx A*
19791649-C-A 17679769-C-A P5_Prx A*
19797652-G-T 17685772-G-T P5_Prx A*
19801138-G-T 17689258-G-T P5_Prx A*
22291047-T-C 20129161-T-C DYZ19 A*
26253476-G-C 24107329-G-C P1_Y1 A*
26358949-C-T 24212802-C-T P1_Y1 A*
56834065-T-A A*
56836598-A-ACTCCT A*
14379610-G-C 12258906-G-C BY16443 YY+
23069486-G-A 20907600-G-A S25082 Z6484 FGC2271 YY+
59029483-G-A 56883336-G-A +
3087474-C-T 3219433-C-T FT247447 +
3258413-T-C 3390372-T-C FT247500 +
3389885-A-G 3521844-A-G FT247524 +
4126176-CAA-C 4258135-CAA-C +
6376248-G-C 6508207-G-C FT248193 +
6676808-T-A 6808767-T-A FT248245 YY+
6715867-T-A 6847826-T-A FT248253 YY+
6952247-T-G 7084206-T-G FT248296 YY+
7117525-A-G 7249484-A-G FT248329 Y+
7815158-C-G 7947117-C-G FT248455 YY+
8096918-A-G 8228877-A-G FT248497 YY+
8847347-T-C 8979306-T-C FT248633 YY+
8849867-A-G 8981826-A-G FT248634 YY+
10831485-TCACTCCATTC-T +
10883727-C-T FT435448 +
13458351-C-A 11302675-C-A FT443882 +
13951392-A-T 11830686-A-T FT248824 Y+
14229610-T-A 12108904-T-A FT248902 YY+
15031959-C-T 12920047-C-T FT249059 YY+
15105404-C-T 12993492-C-T FT249068 YY+
15768045-AAAC-A 13656165-AAAC-A +
15989496-A-C 13877616-A-C FT249230 YY+
16339613-C-T 14227733-C-T FT122040 YY+
17567378-G-A 15455498-G-A FT249494 YY+
17668513-T-TG 15556633-T-TG 7×TTTG+
17936329-G-A 15824449-G-A FT249568 YY+
18123347-C-T 16011467-C-T FT249620 YY+
18264770-T-C 16152890-T-C FT249645 +
18610146-G-A 16498266-G-A FT193734 YY+
18789675-G-A 16677795-G-A FT249694 YY+
19157537-GA-G 17045657-GA-G +
19217370-C-A 17105490-C-A FT249782 YY+
19513468-C-A 17401588-C-A FT249841 YY+
21292869-C-G 19130983-C-G FT249901 YY+
21567204-C-A 19405318-C-A FT249969 YY+
21654027-C-T 19492141-C-T FT249988 YY+
21800541-G-T 19638655-G-T FT284311 YY+
22081003-C-T 19919117-C-T YY+
22165616-GATA-G 20003730-GATA-G +
22457754-T-G 20295868-T-G FT457204 DYZ19 +
23117024-C-G 20955138-C-G FT250241 YY+
23193438-C-T 21031552-C-T FT250262 Y+
23340000-A-C 21178114-A-C FT250294 Y+
23515971-A-G 21354085-A-G FT250327 YY+
23815617-C-G 21653731-C-G FT250373 Y+
23818643-T-C 21656757-T-C FT250374 +
28735167-A-G 26589020-A-G FT250499 +
58987548-G-A 56841401-G-A *
58988929-A-G 56842782-A-G *
58989161-C-T 56843014-C-T *
22275298-T-A 20113412-T-A DYZ19 *
8571177-T-TAC 8703136-T-TAC 8×AC*
10894601-C-T *
18106368-T-C 15994488-T-C YY*
22289021-T-A 20127135-T-A DYZ19 *
22484048-T-A 20322162-T-A BY158473 DYZ19 **
25931652-T-TA 23785505-T-TA P1_Y1 8×A**
22437512-T-C 20275626-T-C DYZ19 **
26114092-A-T 23967945-A-T P1_Y1 **
4686436-C-T 4818395-C-T **
2918588-A-C 3050547-A-C **
3763359-G-A 3895318-G-A FT244772 **
13369996-A-G 11214320-A-G **
13473516-A-G 11317840-A-G BY152268 **
15803874-G-T 13691994-G-T **
15894408-C-T 13782528-C-T **
16292530-T-C 14180650-T-C **
20692816-A-T 18530930-A-T P4_Prx **
21569950-G-C 19408064-G-C **
22441791-T-A 20279905-T-A DYZ19 **
23127218-G-A 20965332-G-A **
24607773-C-CAAAAAAAAA 22461626-C-CAAAAAAAAA P3_t2 19×A**
29489-T-A **
4456329-A-G 4588288-A-G ***
4456328-C-T 4588287-C-T ***
5275954-CAAAAAAAA-C 5407913-CAAAAAAAA-C 27×A***
58988697-G-A 56842550-G-A ***
59012316-C-T 56866169-C-T ***
6597340-T-TAAA 6729299-T-TAAA 28×A***
24383530-CA-C,CAA 22237383-CA-C,CAA 15×A***
17203347-TTC-T 15091467-TTC-T ***
17599054-T-C 15487174-T-C ***
4067508-CTTTTT-C 4199467-CTTTTT-C 29×T***
16545414-CAAAA-C,CAA 14433534-CAAAA-C,CAA 24×A***
14914672-CTT-C,CTTT 12802739-CTT-C,CTTT 17×T***
10660741-TTTCCATTCCA-T ***
4373606-CTT-C,CT 4505565-CTT-C,CT 14×T***
6915796-ATTT-A,ATTTT 7047755-ATTT-A,ATTTT 22×T***
18106368-T-TC 15994488-T-TC ***
19325499-A-G 17213619-A-G ***
22319152-G-C 20157266-G-C DYZ19 ***
28662916-G-A 26516769-G-A ***

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.