Tree Position

R-U106/S21 > Z2265 > Z381/S263 > S264/Z156 > Z305 > Z307 > S265/Z304 > BY12480 > DF96 > FGC13326 > FGC34162 > FGC34175

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
174983
BigY3
174983
58976126-A-G 56829979-A-G A*
13698394-A-T 11542718-A-T ***A*
19578792-G-A 17466912-G-A P5_Prx Y***A*
19788576-G-T 17676696-G-T P5_Prx ***A*
19882720-G-A 17770840-G-A P5_Prx ***A*
20652681-T-C 18490795-T-C P4_Prx ***A*
20697799-A-G 18535913-A-G P4_Prx ***A*
22304948-T-G 20143062-T-G DYZ19 ***A*
24264875-A-G 22118728-A-G P3_b1 ***A*
25942742-A-G 23796595-A-G P1_Y1 ***A*
23195586-C-CA 21033700-C-CA 10×AA*
13687266-G-T 11531590-G-T A*
18281588-C-T 16169708-C-T P6_Prx A*
20600981-C-T 18439095-C-T P5_Dst A*
26390029-T-A 24243882-T-A P1_Y1 A*
9654771-C-A 9817162-C-A F1587 IR3_Prx +
22467323-G-C 20305437-G-C A4338 DYZ19 +**
9872090-C-G 10034481-C-G FGC34164 YY++
7066950-A-C 7198909-A-C FGC34158 YY++
8140889-A-T 8272848-A-T FGC34159 YY++
8411296-C-T 8543255-C-T FGC34161 YY++
8966775-G-A 9129166-G-A +**
8999587-A-G 9161978-A-G BY28081 Y++
15529556-TA-T 13417676-TA-T ++
17513474-G-A 15401594-G-A FGC34168 YY++
17815446-A-G 15703566-A-G FGC34169 YY++
19282033-G-A 17170153-G-A FGC34172 YY++
21508421-C-T 19346535-C-T FGC34174 YY++
22467318-A-T 20305432-A-T YP903 DYZ19 +**
23064651-T-G 20902765-T-G FGC34176 YY++
23270049-C-A 21108163-C-A FGC34177 YY++
3463495-G-A 3595454-G-A FT165591 +
3687091-A-G 3819050-A-G FT165712 +
3853424-T-C 3985383-T-C FT165795 +
4085870-A-G 4217829-A-G FT165922 +
4643399-A-C 4775358-A-C FT166191 +
4980265-C-A 5112224-C-A FT166342 +
5321423-T-A 5453382-T-A FT166528 +
5409886-C-G 5541845-C-G FT166575 +
5553246-T-C 5685205-T-C FT166643 +
6025076-C-T 6157035-C-T FT166897 +
6981007-C-G 7112966-C-G YY+
7769071-G-A 7901030-G-A BY67491 YY+
8384052-T-C 8516011-T-C Y+
8508559-C-T 8640518-C-T YY+
10621663-A-G FT427820 +
13706096-A-G 11550420-A-G BY89201 +
14675924-C-T 12563990-C-T FT168673 Y+
16566053-T-G 14454173-T-G FT169333 YY+
19286159-T-C 17174279-T-C FGC34173 YY+
24404707-C-T 22258560-C-T +
18271553-T-A 16159673-T-A P6_Prx ****
56827538-ATTCCATTCCT-A,ATTCCA *
5567466-T-C 5699425-T-C *
10024358-T-C 10186749-T-C PF6816 **
8901076-CATATAT-C 9033035-CATATAT-C 15×AT**
17243839-C-G 15131959-C-G Y3473CTS7022 Z1839 **
14181115-C-T 12060409-C-T PR1360 **
22287769-C-A 20125883-C-A BY216172 DYZ19 *****
22287770-C-G 20125884-C-G BY216173 DYZ19 *****
25207822-C-CAAAAAAAA 23061675-C-CAAAAAAAA P2_r1 51×A**
58891035-G-A 56699836-C-T 4×CATTC**
56699856-G-T **
4076728-GTATA-G 4208687-GTATA-G 10×TA**
9909943-T-C 10072334-T-C **
3363381-C-T 3495340-C-T **
6877930-G-A 7009889-G-A **
7002250-C-A 7134209-C-A **
8901068-C-T 9033027-C-T **
13411945-C-A 11256269-C-A **
13455732-T-A 11300056-T-A **
15221253-T-C 13109339-T-C **
15758409-G-A 13646529-G-A **
19505339-A-G 17393459-A-G **
22346429-T-G 20184543-T-G DYZ19 **
22477315-C-T 20315429-C-T BY42057 DYZ19 **
27449901-A-AAAT 25303754-A-AAAT P1_Y2 **
56699825-G-T **
56699843-A-T **
56699856-G-GAATAA **
13866442-T-TCAGAATCAAA 11745736-T-TCAGAATCAAA ***
13842152-G-C 11721446-G-C ***
10037245-A-AG 10199636-A-AG ***
10037246-G-T 10199637-G-T ***
13448287-C-T 11292611-C-T ***
13864879-A-T 11744173-A-T ***
28253523-AC-A 26107376-AC-A P1_b4 ***
26117883-ACAG-A 23971736-ACAG-A P1_Y1 ***
13689510-A-G 11533834-A-G ***
13826101-GGACTC-G 11705395-GGACTC-G ***
28808517-G-A 26662370-G-A ***
13455596-TTCCAC-T 11299920-TTCCAC-T ***
28253534-T-A 26107387-T-A P1_b4 ***
17794258-T-TTC 15682378-T-TTC ***
18325701-ATTT-A 16213821-ATTT-A P6_Prx 27×T***
13455714-CACTCT-C 11300038-CACTCT-C ***
22451767-C-G 20289881-C-G DYZ19 ***
13464701-AG-A,AA 11309025-AG-A,AA ***
13465034-C-T 11309358-C-T ***
13472204-AG-A,AC 11316528-AG-A,AC ***
13704100-GAGTAGAATAAATAC-G 11548424-GAGTAGAATAAATAC-G ***
13817625-A-ATGGAG 11696919-A-ATGGAG ***
13826110-T-A 11705404-T-A ***
13868370-C-CGAATA,G 11747664-C-CGAATA,G 4×GAATG***
16242600-G-A 14130720-G-A 4×TCTA***
17920941-CAAAAAAAAAAAAAAAAAAAAAAAAA-C 15809061-CAAAAAAAAAAAAAAAAAAAAAAAAA-C 45×A***
19690156-TA-T 17578276-TA-T P5_Prx 12×AAATA***
19995732-G-A 17883852-G-A P5_Prx ***
20714287-TC-T 18552401-TC-T P4_Prx ***
22227009-ACT-A 20065123-ACT-A DYZ19 ***
22230847-G-A 20068961-G-A BY213447 DYZ19 ******
22366526-G-C 20204640-G-C DYZ19 ***
22429965-A-G 20268079-A-G DYZ19 ***
25191818-A-G 23045671-A-G g1 ***
26060168-C-CAAA 23914021-C-CAAA P1_Y1 39×A***
26271170-C-A 24125023-C-A P1_Y1 ***
28785997-AGTGGAGTGAC-A 26639850-AGTGGAGTGAC-A ***
58973020-ATTCGAGACTG-A 56826873-ATTCGAGACTG-A ***
58975070-T-TCATTC 56828923-T-TCATTC 5×CATTC***
59004685-AAAGT-A 56858538-AAAGT-A ***
19226731-A-G 17114851-A-G ***
5147441-C-CA 5279400-C-CA 30×A***
59022592-GA-G 56876445-GA-G 13×A***
18723887-C-CTT 16612007-C-CTT 19×T***
18589700-T-TTA 16477820-T-TTA ***
13488493-C-A 11332817-C-A ***
13461997-T-C 11306321-T-C ***
17920941-CAAAAAAAAAAAAAAAAAAAAAAAAAA-C,CA 15809061-CAAAAAAAAAAAAAAAAAAAAAAAAAA-C,CA 45×A***
3290734-A-T 3422693-A-T ***
4784820-A-T 4916779-A-T ***
5110259-T-A 5242218-T-A ***
5555645-CAAA-C,CAA 5687604-CAAA-C,CAA 18×A***
5986595-GTTTT-G 6118554-GTTTT-G 28×T***
13455773-C-CGGTTT 11300097-C-CGGTTT ***
13455778-T-G 11300102-T-G ***
13455789-C-T 11300113-C-T ***
13940662-G-A 11819956-G-A ***
19048928-TAA-T,TAAA 16937048-TAA-T,TAAA 18×A***
19388050-T-C 17276170-T-C ***
22346434-T-G 20184548-T-G DYZ19 ***
22346435-A-G 20184549-A-G DYZ19 ***
23087186-G-A 20925300-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.