Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139

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
88594
FTDNA
88594
24631264-C-CTG 22485117-C-CTG P3_t2 12×TGA*
6272119-G-A 6404078-G-A IR3_Dst A****
18336744-A-G 16224864-A-G P6_Prx A****
19588775-C-T 17476895-C-T P5_Prx YA****
19673867-T-G 17561987-T-G P5_Prx A****
19764268-C-T 17652388-C-T P5_Prx A****
19914431-C-T 17802551-C-T P5_Prx A****
26072242-C-T 23926095-C-T P1_Y1 A****
26380374-T-G 24234227-T-G P1_Y1 A****
26380398-C-G 24234251-C-G P1_Y1 A****
26328423-G-A 24182276-G-A P1_Y1 A*
13687342-G-T 11531666-G-T A*
24285047-A-G 22138900-A-G P3_t1 A*
26335551-C-T 24189404-C-T P1_Y1 A*
7069526-C-A 7201485-C-A Y38803 YY++
7169561-G-A 7301520-G-A Y38850 YY++
8306032-C-T 8437991-C-T Y39439 YY++
8339052-C-T 8471011-C-T Y39464 YY++
8497169-TCA-T 8629128-TCA-T ++
8623033-A-T 8754992-A-T Y39680 YY++
8858920-A-T 8990879-A-T Y39833 YY++
9798062-A-C 9960453-A-C Y40062 YY++
13324414-G-A 11168738-G-A BY49930 +**
15750635-A-G 13638755-A-G Y41144 YY++
17278568-A-G 15166688-A-G Y41922 YY++
17951925-G-A 15840045-G-A Y42299 YY++
18256504-T-G 16144624-T-G Y42477 ++
19293940-C-A 17182060-C-A Y42961 YY++
21304348-G-A 19142462-G-A F24121 YY++
21603669-T-C 19441783-T-C Y43435 YY++
22159855-A-G 19997969-A-G Y43715 YY++
22442517-G-T 20280631-G-T BY48571 DYZ19 +***
22464341-G-T 20302455-G-T BY50099 DYZ19 ++
22580838-C-A 20418952-C-A Y43840 YY++
23839348-G-C 21677462-G-C Y44506 Y++
24480579-G-C 22334432-G-C Y44608 Y++
2822740-AAAATAAAT-A 2954699-AAAATAAAT-A Y9133 11×AAAT**+
13706867-T-A 11551191-T-A BY49946 +
21407907-C-A 19246021-C-A YY+
9789275-CGTGTGTGT-C 9951666-CGTGTGTGT-C 22×GT+
4920246-C-A 5052205-C-A FT235474 +
14230282-C-A 12109576-C-A FT236543 YY+
14227561-G-A 12106855-G-A YY+
2983274-A-G 3115233-A-G FT234954 +
3157709-C-T 3289668-C-T FT235022 +
4258895-A-G 4390854-A-G FT372893 +
4294068-T-C 4426027-T-C FT372896 +
4573351-A-G 4705310-A-G FT235388 +
4643721-A-G 4775680-A-G FT235408 +
4694961-C-T 4826920-C-T FT16761 +
4706943-C-T 4838902-C-T FT141698 +
5343580-G-A 5475539-G-A FT235570 +
5414331-T-G 5546290-T-G FT372942 +
5495852-A-G 5627811-A-G FT372945 +
10899259-A-T FT435888 +
10942486-C-A FT437555 +
13241673-G-T 11085997-G-T FT441701 +
13547026-T-A 11391350-T-A +
13884245-G-A 11763539-G-A FT111126 Y+
14027334-T-A 11906628-T-A YY+
14181733-GC-G 12061027-GC-G +
14867174-A-C 12755244-A-C YY+
16624618-C-A 14512738-C-A FT236991 Y+
17685868-C-A 15573988-C-A YY+
22713820-C-T 20551934-C-T FT237903 Y+
5246329-T-TAC 5378288-T-TAC 16×AC*
22340450-G-T 20178564-G-T DYZ19 ****
22257664-G-T 20095778-G-T DYZ19 ****
10661686-TTCCAC-T *
9503819-C-T 9666210-C-T *
20692965-CAA-C 18531079-CAA-C P4_Prx 19×A**
18392814-GTCTA-G 16280934-GTCTA-G P6_Gap 8×TCTA*****
7048235-A-T 7180194-A-T **
13459016-C-T 11303340-C-T BY49933 ****
22241851-C-T 20079965-C-T BY184341 DYZ19 *****
22450040-T-G 20288154-T-G DYZ19 **
22508377-G-A 20346491-G-A DYZ19 *****
13726089-T-A 11570413-T-A **
9540128-TG-T 9702519-TG-T IR3_Prx **
20691085-C-A 18529199-C-A P4_Prx **
9623262-G-A 9785653-G-A IR3_Prx **
23425088-G-A 21263202-G-A **
9519812-TTTTCTTTCTTTCTTTCTTTC-T 9682203-TTTTCTTTCTTTCTTTCTTTC-T 17×TTTC**
23455052-TA-T 21293166-TA-T **
13950947-C-CTT 11830241-C-CTT 23×T**
15803957-C-T 13692077-C-T **
21953301-G-A 19791415-G-A **
21953302-T-C 19791416-T-C **
2758648-G-A 2890607-G-A **
2790443-A-G 2922402-A-G **
3350479-C-A 3482438-C-A **
4978532-C-T 5110491-C-T **
5346755-C-A 5478714-C-A **
9430384-G-T 9592775-G-T **
9430451-C-T 9592842-C-T **
9921988-C-T 10084379-C-T **
13307270-C-T 11151594-C-T **
13540142-C-T 11384466-C-T **
13932476-T-C 11811770-T-C FT236437 **
14161920-C-A 12041214-C-A **
14633422-C-T 12521491-C-T **
15379546-T-C 13267666-T-C **
15379549-A-G 13267669-A-G **
19427632-C-T 17315752-C-T **
20458869-C-A 18296983-C-A P5_Dst **
20638216-T-A 18476330-T-A P4_Prx **
21501086-ATTTTT-A 19339200-ATTTTT-A 37×T**
22001237-T-C 19839351-T-C **
22691617-G-T 20529731-G-T **
23229212-A-G 21067326-A-G **
23425062-C-T 21263176-C-T **
23425072-C-T 21263186-C-T **
28791248-G-A 26645101-G-A **
28791253-G-A 26645106-G-A **
10013214-G-A 10175605-G-A ***
22449506-G-T 20287620-G-T DYZ19 ***
13856776-CAAATG-C 11736070-CAAATG-C ***
20000745-AT-A 17888865-AT-A P5_Prx 11×T***
58975202-A-T 56829055-A-T ***
13696314-C-T 11540638-C-T ***
13457901-T-TATTCC 11302225-T-TATTCC 7×ATTCC***
17009801-AAC-A 14897921-AAC-A 9×AC***
13826788-A-C 11706082-A-C ***
13833439-T-TTGGAA 11712733-T-TTGGAA ***
13826768-TC-T 11706062-TC-T ***
13826773-A-AT 11706067-A-AT ***
13826790-A-G 11706084-A-G ***
13826792-A-T 11706086-A-T ***
13826800-A-G 11706094-A-G ***
13826803-C-A 11706097-C-A ***
13826815-G-A 11706109-G-A BY90743 ***
24326954-TACAC-T 22180807-TACAC-T P3_t1 19×AC***
13458451-C-G 11302775-C-G ***
13458443-T-TATCAA 11302767-T-TATCAA ***
22365367-C-A 20203481-C-A DYZ19 ***
9923899-T-C 10086290-T-C ***
22365362-G-T 20203476-G-T DYZ19 ***
19995197-G-A 17883317-G-A P5_Prx ***
22220925-T-A 20059039-T-A DYZ19 ***
22220926-C-A 20059040-C-A DYZ19 ***
22221151-G-T 20059265-G-T DYZ19 ***
22237046-G-A 20075160-G-A DYZ19 ***
22285466-G-T 20123580-G-T DYZ19 ***
22285907-G-T 20124021-G-T DYZ19 ***
22296679-G-C 20134793-G-C DYZ19 ***
22300584-G-A 20138698-G-A DYZ19 ***
22367119-A-G,T 20205233-A-G,T DYZ19 ***
22446438-G-T 20284552-G-T FGC78297 DYZ19 ******
22474624-T-A 20312738-T-A BY223176 DYZ19 ***
22489710-C-G 20327824-C-G DYZ19 ***
24323733-A-C 22177586-A-C P3_t1 ***
24830595-A-G 22684448-A-G P3_b2 ***
25096521-GAAAGAAAA-G,GAAAGA 22950374-GAAAGAAAA-G,GAAAGA g1 ***
25189774-C-G 23043627-C-G g1 ***
25196026-A-G 23049879-A-G g1 ***
25281151-G-A 23135004-G-A P2_r1 ***
26172884-C-T 24026737-C-T P1_Y1 ***
26714052-T-TA 24567905-T-TA P1_g2 ***
25200987-GAAGAAAGAAAGAAAGA-G,GAAGAAAGA 23054840-GAAGAAAGAAAGAAAGA-G,GAAGAAAGA g1 14×AAGA***
17946919-GTTT-G 15835039-GTTT-G 24×T***
21085801-AAAC-A 18923915-AAAC-A ***
17932405-CAA-C 15820525-CAA-C 13×A***
16679099-ATT-A,AT 14567219-ATT-A,AT 25×T***
13257942-G-GT 11102266-G-GT 9×T***
6776497-CAAAA-C 6908456-CAAAA-C 28×A***
14097945-ATTTT-A 11977239-ATTTT-A 23×T***
5785654-T-TAA 5917613-T-TAA 24×A***
5468173-C-CT 5600132-C-CT 26×T***
9429480-TAAAA-T,TAA 9591871-TAAAA-T,TAA 18×A***
17128535-CTT-C,CT 15016655-CTT-C,CT 25×T***
21755795-CTTTTT-C ***
13470834-T-A 11315158-T-A ***
5278411-CAA-C 5410370-CAA-C 13×A***
6020698-T-G,TG 6152657-T-G,TG ***
6617728-A-G 6749687-A-G ***
6625090-G-A 6757049-G-A ***
8968478-C-T 9130869-C-T ***
9503819-C-CTATT 9666210-C-CTATT ***
13465756-G-A 11310080-G-A ***
14634150-T-C 12522219-T-C ***
14634819-C-T 12522888-C-T ***
14795080-CTTTT-C,CTT 12683151-CTTTT-C,CTT 24×T***
15184670-A-G 13072756-A-G ***
18454649-T-C 16342769-T-C P6_Dst ***
18915326-A-G 16803446-A-G ***
22551685-C-T 20389799-C-T ***
24127206-G-A 21981059-G-A P3_b1 ***
28492932-ATTTTTTT-A,ATTTTTT 26346785-ATTTTTTT-A,ATTTTTT 22×T***

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.