Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > Z251/S470 > FGC13899

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 STRBigY2
683812
6317069-G-C 6449028-G-C IR3_Dst A*
25961558-C-T 23815411-C-T P1_Y1 A*
22318386-G-T 20156500-G-T BY52452 DYZ19 +
22318396-G-C 20156510-G-C BY157014 DYZ19 +
22318406-A-G 20156520-A-G BY52453 DYZ19 +
22425709-C-A 20263823-C-A BY51693 DYZ19 +
3545368-T-C 3677327-T-C BY57707 +
4081033-T-A 4212992-T-A BY57972 +
6265284-A-T 6397243-A-T BY59556 IR3_Dst +
7728944-T-C 7860903-T-C BY67159 YY+
8195563-C-T 8327522-C-T BY70620 YY+
8846104-T-C 8978063-T-C BY76315 YY+
8888690-C-A 9020649-C-A BY76671 Y+
9813728-C-A 9976119-C-A YY+
13224838-G-T 11069162-G-T BY84639 +
14019165-T-G 11898459-T-G BY92339 YY+
14312972-A-G 12192266-A-G BY94743 YY+
14622627-G-T 12510825-G-T BY96830 YY+
14754302-G-C 12642371-G-C BY97419 YY+
15329712-G-A 13217830-G-A BY100870 YY+
15499847-A-T 13387967-A-T BY102007 YY+
15809333-A-G 13697453-A-G BY104235 YY+
15850820-T-G 13738940-T-G BY104537 YY+
15864602-G-C 13752722-G-C BY104621 YY+
16196331-C-T 14084451-C-T BY105916 YY+
16442853-G-A 14330973-G-A BY107813 YY+
16690360-G-A 14578480-G-A BY109432 YY+
17473481-C-A 15361601-C-A BY115057 YY+
17848341-A-T 15736461-A-T BY117794 YY+
19007895-G-A 16896015-G-A BY125493 YY+
20826688-G-C 18664802-G-C P4_Gap +
21063548-A-G 18901662-A-G BY130179 YY+
21176021-A-T 19014135-A-T BY130885 YY+
21703818-A-G 19541932-A-G BY134839 YY+
21930123-T-G 19768237-T-G BY136523 YY+
21969899-A-T 19808013-A-T BY136713 YY+
22318367-T-C 20156481-T-C FT455747 DYZ19 +
22463811-A-C 20301925-A-C BY177556 DYZ19 +
23162976-C-T 21001090-C-T BY143537 Y+
23232551-G-A 21070665-G-A BY143853 Y+
23835433-C-T 21673547-C-T BY148195 Y+
26033070-T-G 23886923-T-G BY177544 P1_Y1 +
23360428-G-GTATTAT 21198542-G-GTATTAT 12×TAT**
16077543-C-CAA 13965663-C-CAA 36×A**
58994005-C-A 56847858-C-A **
2814788-C-A 2946747-C-A **
22068769-C-A 19906883-C-A **
16814028-C-A 14702148-C-A **
25983814-A-AG 23837667-A-AG P1_Y1 **
15412871-C-A 13300991-C-A **
10754727-T-A **
23623425-G-A 21461539-G-A **
5990547-C-A 6122506-C-A **
2750856-G-T 2882815-G-T **
4240814-C-A 4372773-C-A **
5710011-C-A 5841970-C-A **
10904078-T-C **
10904081-A-T **
11037945-T-C **
20840340-C-A 18678454-C-A P4_Gap **
14328281-C-A 12207575-C-A **
14571404-C-A 12459604-C-A **
10770729-ATTCCT-A **
24283329-GTC-G 22137182-GTC-G P3_t1 **
11013944-A-T **
7131270-C-A 7263229-C-A **
28797088-A-T 26650941-A-T **
26152051-C-A 24005904-C-A P1_Y1 **
13592513-C-A 11436837-C-A FT446069 **
17387532-G-T 15275652-G-T FTB19384 **
17387533-G-C 15275653-G-C **
26042554-C-A 23896407-C-A P1_Y1 **
14785501-C-A 12673571-C-A **
17675532-C-A 15563652-C-A **
21919404-CTTTT-C 19757518-CTTTT-C 16×T**
18951825-C-A 16839945-C-A **
13705511-G-A 11549835-G-A DYZ17 **
21556906-C-A 19395020-C-A **
17090773-C-A 14978893-C-A **
5241788-C-T 5373747-C-T FT114251 **
8216482-G-A 8348441-G-A **
15342495-C-A 13230614-C-A **
22598791-C-A 20436905-C-A **
18948008-C-A 16836128-C-A **
10883093-C-A **
15342488-C-T 13230607-C-T **
10904047-A-T **
9112771-G-T **
10660677-G-T **
18632303-C-A 16520423-C-A **
10750804-C-CGGAAG **
18186153-C-A 16074273-C-A **
6403577-G-A 6535536-G-A **
6403599-G-T 6535558-G-T **
15280241-C-A 13168340-C-A **
10856358-C-A **
15894632-C-A 13782752-C-A **
21087259-G-T 18925373-G-T **
25312579-C-A 23166432-C-A P2_r1 **
14786210-C-A 12674280-C-A **
10775060-C-A **
17315123-C-A 15203243-C-A **
28532077-C-A 26385930-C-A **
26152031-C-A 24005884-C-A P1_Y1 **
14461147-G-T 12340420-G-T FT67746 **
10904093-C-A **
16279539-C-A 14167659-C-A **
11027615-C-A **
6809382-A-T 6941341-A-T **
14073171-A-C 11952465-A-C **
10798757-C-A **
21368370-C-A 19206484-C-A **
3218294-G-T 3350253-G-T **
10886897-G-T **
6356204-C-A 6488163-C-A **
21096162-C-A 18934276-C-A **
12376289-C-A **
10800884-T-A **
10799459-T-A **
27971693-C-A 25825546-C-A P1_Y2 **
9069997-C-T 9232388-C-T **
9069987-G-T 9232378-G-T **
24254149-CA-C 22108002-CA-C P3_b1 **
13910041-C-A 11789335-C-A **
17552199-C-A 15440319-C-A **
6268783-A-C 6400742-A-C IR3_Dst **
10921570-C-A **
11018093-C-A **
10792271-C-A **
18928570-C-CA 16816690-C-CA 28×A**
10870394-C-A **
10775066-C-G **
9069994-A-G 9232385-A-G **
18390118-G-A 16278238-G-A FT396342 P6_Gap **
13597412-G-T 11441736-G-T **
7243193-C-A 7375152-C-A **
17514092-C-A 15402212-C-A **
18764465-C-A 16652585-C-A **
10896475-C-A **
10904031-A-C **
10904034-C-T FGC77248 **
10904065-TACAGGG-T **
10904101-C-T **
10764707-C-A **
5698632-G-T 5830591-G-T **
9069989-A-G 9232380-A-G **
10898326-T-C **
10898351-T-TTCAAC **
10870423-A-T **
10977439-C-A **
23249363-C-A 21087477-C-A **
2767801-C-A 2899760-C-A **
2773366-A-T 2905325-A-T **
2833171-AC-A 2965130-AC-A **
2921297-C-T 3053256-C-T **
3107645-C-A 3239604-C-A **
3279793-C-A 3411752-C-A **
3321286-T-G 3453245-T-G **
3380221-C-A 3512180-C-A **
3577790-C-A 3709749-C-A **
3772324-A-G 3904283-A-G **
4010011-C-A 4141970-C-A **
4252434-C-A 4384393-C-A **
4854554-C-A 4986513-C-A **
5125722-T-G 5257681-T-G **
5242206-C-A 5374165-C-A **
5247685-C-A 5379644-C-A **
5260554-C-A 5392513-C-A **
5535036-C-A 5666995-C-A **
5612896-C-A 5744855-C-A **
5745261-C-A 5877220-C-A **
5845209-GGACAT-G 5977168-GGACAT-G **
5957053-T-C 6089012-T-C **
6252650-C-A 6384609-C-A IR3_Dst **
6369872-T-C 6501831-T-C **
6403615-T-G 6535574-T-G **
6757137-G-A 6889096-G-A **
6809367-G-A 6941326-G-A FT382277 **
6809381-G-A 6941340-G-A **
6847882-C-A 6979841-C-A **
7043581-C-T 7175540-C-T **
7045223-C-A 7177182-C-A **
7100690-A-G 7232649-A-G **
7336926-G-A 7468885-G-A **
7436706-A-T 7568665-A-T **
7541206-G-T 7673165-G-T **
7615290-G-T 7747249-G-T **
8720115-G-A 8852074-G-A FT364069 **
8855642-C-A 8987601-C-A **
9069970-C-CAA 9232361-C-CAA **
9069998-A-G 9232389-A-G **
9070005-A-G 9232396-A-G **
9426672-A-T 9589063-A-T **
9944097-G-T 10106488-G-T **
10081420-G-T 10243811-G-T **
10684946-C-A **
10747910-C-A **
10783866-C-A **
10793345-C-T **
10795231-C-A **
10819085-T-G **
10841359-T-G **
10848160-T-C **
10849802-C-A **
10860419-T-C **
10879748-A-T **
10883083-C-A **
10900539-C-G **
10903664-G-T **
10928854-C-A **
10935974-C-A **
10938886-C-A **
10992304-C-CAGTTG **
11020239-T-A **
11024475-C-A **
11037820-C-A **
13196504-G-C 11040828-G-C **
13196506-T-A 11040830-T-A **
13473743-T-C 11318067-T-C **
13955487-G-T 11834781-G-T **
13988986-C-A 11868280-C-A **
13999482-G-T 11878776-G-T **
14447442-T-G 12326715-T-G **
14623555-T-C 12511753-T-C **
14623564-A-T 12511762-A-T **
14623577-T-A 12511775-T-A **
14623578-G-A 12511776-G-A **
14718995-C-A 12607063-C-A **
15221359-C-A 13109445-C-A **
15284684-G-T 13172783-G-T **
15333375-G-T 13221493-G-T **
15536504-G-A 13424624-G-A **
15984480-T-A 13872600-T-A **
16057275-G-T 13945395-G-T **
16246237-C-A 14134357-C-A **
16394687-T-G 14282807-T-G **
16667957-C-A 14556077-C-A **
16703453-G-T 14591573-G-T **
17064989-C-T 14953109-C-T **
17387506-C-G 15275626-C-G **
17387531-T-A 15275651-T-A **
17519112-C-G 15407232-C-G **
17883833-C-A 15771953-C-A **
18151879-C-A 16039999-C-A **
18381972-G-T 16270092-G-T FTA12215 P6_Gap **
18565806-G-T 16453926-G-T **
18614421-C-A 16502541-C-A **
19385157-T-C 17273277-T-C **
19393422-A-G 17281542-A-G **
19411692-C-A 17299812-C-A **
19476699-G-C 17364819-G-C **
19559712-C-A 17447832-C-A **
19717827-G-T 17605947-G-T P5_Prx **
19717855-G-T 17605975-G-T P5_Prx **
20434737-G-T 18272851-G-T P5_Dst **
20603876-G-C 18441990-G-C P5_Dst **
20603876-GAA-G 18441990-GAA-G P5_Dst **
20728843-G-T 18566957-G-T P4_Prx **
20728856-T-G 18566970-T-G P4_Prx **
20848902-A-G 18687016-A-G P4_Dst **
21111578-C-G 18949692-C-G **
21154499-T-C 18992613-T-C **
21368265-T-G 19206379-T-G **
21514072-C-A 19352186-C-A **
21629525-T-C 19467639-T-C **
21964923-G-T 19803037-G-T **
22008299-A-T 19846413-A-T **
22191671-G-A 20029785-G-A **
22202505-G-C 20040619-G-C **
22204365-G-T 20042479-G-T **
22318419-A-G 20156533-A-G DYZ19 **
22318420-C-T 20156534-C-T DYZ19 **
22529648-G-A 20367762-G-A **
22916791-C-A 20754905-C-A **
23252665-G-T 21090779-G-T **
23495664-A-C 21333778-A-C **
23623380-G-A 21461494-G-A **
23997419-G-A 21851272-G-A **
23997455-G-A 21851308-G-A **
24071583-C-T 21925436-C-T P3_b1 **
24611984-TTCATCTGCAAA-T 22465837-TTCATCTGCAAA-T P3_t2 **
26045068-T-TC 23898921-T-TC P1_Y1 **
26107465-A-T 23961318-A-T P1_Y1 **
26153939-C-A 24007792-C-A P1_Y1 **
26181093-A-G 24034946-A-G P1_Y1 **
26427375-CCCAGA-C 24281228-CCCAGA-C P1_Y1 **
27827436-G-T 25681289-G-T P1_Y2 **
28086377-A-G 25940230-A-G P1_Y2 **
28086383-T-G 25940236-T-G P1_Y2 **
28086384-GATTTTAT-G 25940237-GATTTTAT-G P1_Y2 **
28168360-A-T 26022213-A-T P1_b4 **
28168380-A-T 26022233-A-T P1_b4 **
28168414-A-T 26022267-A-T P1_b4 **
28168432-A-T 26022285-A-T P1_b4 **
28538505-G-T 26392358-G-T **
28548636-C-A 26402489-C-A **
56728140-A-G **
56835799-TTCCCTTCGAC-T **
56841361-G-T **
56850227-C-A **
56859074-A-G **
56880952-A-G **
22319106-A-C 20157220-A-C DYZ19 ***
22319100-A-T 20157214-A-T DYZ19 ***
10980677-T-A ***
10989122-C-A,T ***
23037237-ATTTTTT-A 20875351-ATTTTTT-A 20×T***
8069959-ATTT-A,ATTTT 8201918-ATTT-A,ATTTT 19×T***
22973090-C-A 20811204-C-A ***
10869053-TATTTC-T,TC ***
6381801-ATGTG-A 6513760-ATGTG-A 16×TG***
10763263-CTCTAC-C,CTCCAT ***
13466397-G-A,T 11310721-G-A,T ***
10818697-A-T ***
10818710-C-G ***
17051361-C-A 14939481-C-A ***
14527778-G-T 12415979-G-T ***
24492464-C-A 22346317-C-A ***
56838744-G-T ***
6541180-T-C 6673139-T-C ***
3125135-C-A 3257094-C-A ***
6457954-G-GA 6589913-G-GA ***
6663243-A-G 6795202-A-G ***
10677447-G-A,T ***
10785680-C-A ***
10823458-C-A ***
10945301-C-T ***
10949640-TTCCAT-T,TTCCAC ***
10989971-C-A ***
10993428-ATC-A ***
13487805-T-A,C 11332129-T-A,C ***
14181292-G-T 12060586-G-T ***
16275956-A-G 14164076-A-G ***
16427426-C-T 14315546-C-T ***
16621415-A-G 14509535-A-G ***
16621432-G-T 14509552-G-T ***
18933571-G-T 16821691-G-T ***
21731837-A-G 19569951-A-G ***
22030040-TA-T,TAA 19868154-TA-T,TAA 10×A***
27823648-G-T 25677501-G-T P1_Y2 ***

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.