Tree Position

R-M269 > L23 > Z2103 > Z2106 > Z2108 > Z2110 > CTS7556 > Y5589 > BY250 > BY3717

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
389834
13143832-T-C 10633318-T-C A*
58978195-C-G 56832048-C-G A*
13451147-C-G 11295471-C-G A*
13449741-T-C 11294065-T-C A*
58981333-C-T 56835186-C-T A*
20793453-A-AAT 18631567-A-AAT P4_Prx 12×ATA*
19815544-A-T 17703664-A-T P5_Prx A*
58981253-T-A 56835106-T-A A6211 A*
13447897-G-GTTGCATTCCA 11292221-G-GTTGCATTCCA A*
58976765-T-A 56830618-T-A A*
20416397-A-AT 18254511-A-AT P5_Dst 15×TA*
19931620-C-CGA 17819740-C-CGA P5_Prx 9×GAA*
13447911-C-T 11292235-C-T A*
56832062-C-G A*
56832215-A-G A*
56832216-G-T A*
56832773-C-G A*
56835653-C-T A*
20622519-C-CA 18460633-C-CA P4_Prx 17×AA*
10949282-C-CCACTG A*
28817345-G-T 26671198-G-T A*
28817732-T-C 26671585-T-C A*
56835293-A-G A*
56831448-C-CCATTA A*
6487798-G-GT 6619757-G-GT 10×TA*
56835120-A-G A*
13451375-G-T 11295699-G-T A*
20775131-G-GA 18613245-G-GA P4_Prx 21×AA*
56832461-T-C A*
13464480-G-C 11308804-G-C A*
13464484-C-A 11308808-C-A A*
56834009-G-A A*
56832472-C-T A*
13448309-C-G 11292633-C-G A*
13451165-T-TTCCAA 11295489-T-TTCCAA A*
56830694-C-A A*
13448330-C-A 11292654-C-A A*
13448303-T-C 11292627-T-C A*
18525137-T-G 16413257-T-G P6_Dst A*
9865544-A-T 10027935-A-T YYA*
13451174-A-T 11295498-A-T A*
13451371-G-C 11295695-G-C A*
19609394-C-G 17497514-C-G P5_Prx YA*
19787758-A-T 17675878-A-T P5_Prx A*
20775331-A-G 18613445-A-G P4_Prx A*
24255223-C-A 22109076-C-A P3_b1 A*
25512880-A-G 23366733-A-G P1_gr1 A*
26071895-A-G 23925748-A-G P1_Y1 A*
14127554-C-T 12006848-C-T CTS1937 Z926 YY+
15107773-G-A 12995860-G-A Z10625 YY+
23557682-GA-G 21395796-GA-G 10×A+
2808029-CAG-C 2939988-CAG-C +
5122316-G-A 5254275-G-A FT150572 +
5160486-T-C 5292445-T-C FT221242 +
5836349-C-T 5968308-C-T FT221385 +
6533440-G-A 6665399-G-A FT75596 +
6704123-A-G 6836082-A-G FT150694 YY+
7238048-T-C 7370007-T-C FT221581 Y+
7993327-G-A 8125286-G-A FT150809 YY+
8204881-C-T 8336840-C-T FT221688 YY+
8266573-C-T 8398532-C-T FT221694 YY+
8361610-A-T 8493569-A-T FT221702 YY+
8362014-T-C 8493973-T-C FT221703 YY+
9167226-C-G 9329617-C-G FT150896 Y+
9384365-T-G 9546756-T-G Y+
10010452-G-A 10172843-G-A FT376191 Y+
10798747-C-T FT91742 +
13198106-G-T 11042430-G-T FT440572 +
13572946-C-T 11417270-C-T BY47087 +
13689085-G-C 11533409-G-C FT448524 +
14068613-G-A 11947907-G-A FT150972 YY+
14138887-G-T 12018181-G-T FT150978 YY+
14252151-C-A 12131445-C-A FT221929 YY+
14525942-T-G 12414143-T-G FT221985 Y+
15634825-C-A 13522945-C-A FT222105 YY+
15723175-T-C 13611295-T-C FT151133 YY+
16002723-G-A 13890843-G-A FT222151 Y+
16640853-G-C 14528973-G-C FT222237 YY+
17299947-T-C 15188067-T-C FT225310 YY+
17318081-G-A 15206201-G-A FT151260 Y+
18202344-C-T 16090464-C-T FT151340 YY+
18617120-C-A 16505240-C-A FT151360 YY+
18661913-C-T 16550033-C-T FT151363 YY+
19151230-G-A 17039350-G-A YY+
21052862-C-T 18890976-C-T BY130150 YY+
21075629-G-C 18913743-G-C FT151448 YY+
21524525-G-A 19362639-G-A FT222706 Y+
21563423-G-T 19401537-G-T FT222712 YY+
22236057-T-C 20074171-T-C FT453505 DYZ19 +
22302155-G-A 20140269-G-A DYZ19 +
22567784-G-C 20405898-G-C FT222817 YY+
22669493-AATTGAG-A 20507607-AATTGAG-A +
14612335-T-TGATA 12500541-T-TGATA 12×GATA*
14610880-G-GATACATAC 12499082-G-GATAC 9×ATAC*
13674163-A-AGAATG 11518487-A-AGAATG 9×GAATG*
13602380-AGAAG-A 11446704-AGAAG-A 9×GAAG*
4136680-ACTCT-A 4268639-ACTCT-A *
10866269-CTCCAT-C *
13472191-CCCC-ACCA 11316515-CCCC-ACCA *
5303227-CTA-C 5435186-CTA-C *
10934826-ACCATT-A *
13452386-CCATTCCATTCAAATACACTCCTTGC-C,CCATTCCAGTCAAATCCACTCCATGA 11296710-CCATTCCATTCAAATACACTCCTTGC-C,CCATTCCAGTCAAATCCACTCCATGA *
27960966-TAAAA-T 25814819-TAAAA-T P1_Y2 18×A**
18249997-TTA-T 16138117-TTA-T **
19052414-CA-C 16940534-CA-C 24×A**
13486854-G-A 11331178-G-A ***
15956769-A-AT 13844889-A-AT 12×T**
13453259-C-G 11297583-C-G **
20350311-CAA-C 18188425-CAA-C P5_Dst 12×A**
19486859-C-CTT 17374979-C-CTT 16×T**
13453144-CA-C 11297468-CA-C **
22802868-ATTTTTTTT-A 20640982-ATTTTTTTT-A 32×T**
3804732-CAAAAAAA-C 3936691-CAAAAAAA-C 29×A**
13453252-T-G 11297576-T-G **
15690002-A-AT 13578122-A-AT **
7643541-AGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG-A 7775500-AGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG-A 16×GGAAG**
2993399-A-G 3125358-A-G FT150368 **
10063721-T-C 10226112-T-C **
13584176-C-T 11428500-C-T **
15109474-T-C 12997561-T-C **
15215660-G-A 13103746-G-A **
19658520-A-G 17546640-A-G P5_Prx **
19658557-T-C 17546677-T-C P5_Prx **
21793635-C-T 19631749-C-T FTA35084 **
22049840-A-G 19887954-A-G **
22298486-C-A 20136600-C-A DYZ19 **
22477764-T-C 20315878-T-C BY223888 DYZ19 **
25506367-A-G 23360220-A-G P1_gr1 **
25723269-A-G 23577122-A-G P1_b3 **
15522-T-C **
5209997-CAA-C 5341956-CAA-C 16×A***
19547815-T-TA 17435935-T-TA 16×A***
5986654-A-T 6118613-A-T ***
22974116-CAAAAAAA-C 20812230-CAAAAAAA-C 24×A***
3662943-G-A 3794902-G-A FT44784 ***
3663021-A-G 3794980-A-G PF54 ***
3663022-T-C 3794981-T-C FT27339FGC45675 ***
3663032-T-C 3794991-T-C Y60549 ***
4275437-CAA-C 4407396-CAA-C 19×A***
28613771-C-CT 26467624-C-CT 16×T***
58975043-TTCGAA-T 56828896-TTCGAA-T ***
13465914-T-A 11310238-T-A ***
3969793-T-TA 4101752-T-TA 10×A***
15179010-CAA-C 13067096-CAA-C 25×A***
23350626-CTT-C 21188740-CTT-C 21×T***
13468321-G-A 11312645-G-A ***
8321435-C-CTT 8453394-C-CTT 15×T***
6468926-TAAA-T 6600885-TAAA-T 28×A***
18204985-CAAA-C 16093105-CAAA-C 23×A***
21754487-T-A ***
21149571-G-T 18987685-G-T ***
19059747-CTTTT-C 16947867-CTTTT-C 25×T***
13875625-G-GT 11754919-G-GT 8×T***
56848129-A-G ***
10949238-T-C FT437811 ***
6046307-T-TA 6178266-T-TA 10×A***
13465971-T-C 11310295-T-C ***
13453168-C-G 11297492-C-G ***
13468280-C-G 11312604-C-G ***
13446531-ATTCCATTCCATTCCATTCCATTC-A,ACTC 11290855-ATTCCATTCCATTCCATTCCATTC-A,ACTC ***
13453177-T-A 11297501-T-A ***
28797855-GA-GT,T 26651708-GA-GT,T ***
22561830-GTT-G 20399944-GTT-G 13×T***
13480286-C-G 11324610-C-G ***
13468310-T-G 11312634-T-G ***
13453244-C-CTTTAA 11297568-C-CTTTAA ***
4794855-CTT-C 4926814-CTT-C 21×T***
13464489-T-A 11308813-T-A ***
13464492-C-T 11308816-C-T ***
13453474-C-A 11297798-C-A ***
5273214-CTTT-C 5405173-CTTT-C 23×T***
3452238-C-G 3584197-C-G ***
56832511-CCACT-C ***
4917601-CTTT-C 5049560-CTTT-C 16×T***
7003446-A-G 7135405-A-G ***
13449314-GCATT-G 11293638-GCATT-G ***
18712436-T-A 16600556-T-A ***
3031549-A-G 3163508-A-G ***
3902999-T-C 4034958-T-C ***
5178062-CAAAAAAA-C,CAAAA 5310021-CAAAAAAA-C,CAAAA 20×A***
13347778-T-A 11192102-T-A ***
13468330-A-T 11312654-A-T ***
13468342-C-A 11312666-C-A ***
21785473-CA-C 19623587-CA-C ***
28679314-G-GA 26533167-G-GA 9×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.