Tree Position

R-P312/S116 > Z40481 > DF99/S11987 > FGC16982 > S23540 > FGC16979

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
244991
BigY2
244991
Manual
Edits
26184170-A-G 24038023-A-G P1_Y1 ***A*
25867969-T-C 23721822-T-C P1_Y1 ***A*
18341950-C-T 16230070-C-T P6_Prx ***A*
17274809-G-A 15162929-G-A L909 YY++
22473703-G-T 20311817-G-T ZS11434 DYZ19 ++
17585976-A-G 15474096-A-G Y53453 YY++
17888043-C-A 15776163-C-A Y53871 YY++
20379520-G-A 18217634-G-A P5_Dst **+
21841829-C-G 19679943-C-G Y57267 Y++
22157687-G-C 19995801-G-C Y57695 YY++
22634366-T-C 20472480-T-C Y58078 Y++
22477333-A-T 20315447-A-T DYZ19 ***+
17282489-T-C 15170609-T-C Y53013 YY++
22665546-G-T 20503660-G-T Y58113 YY++
22913224-T-A 20751338-T-A Y58461 YY++
23042421-C-T 20880535-C-T Y58626 YY++
16927865-G-GT 14815985-G-GT ++
13572661-A-G 11416985-A-G BY86469 +
17585971-T-C 15474091-T-C Y53452 YY++
23203184-G-A 21041298-G-A Y58890 Y+**
17102811-C-T 14990931-C-T Y52770 YY++
9792839-T-A 9955230-T-A Y48490 Y++
16806395-G-A 14694515-G-A Y52358 YY++
7562076-G-A 7694035-G-A Y46128 YY++
8252456-T-C 8384415-T-C Y47017 YY++
9022428-AT-A 9184819-AT-A ++
9791539-CTT-C 9953930-CTT-C ++
8212001-T-C 8343960-T-C Y46960 YY++
9818414-C-A 9980805-C-A Y48524 YY++
16328286-A-T 14216406-A-T Y51707 YY++
13678481-A-T 11522805-A-T BY88113 ++
15679522-A-T 13567642-A-T Y50982 Y++
2785819-TTTA-T 2917778-TTTA-T 6×TTA++
16460942-C-G 14349062-C-G Y51891 YY++
22340436-T-G 20178550-T-G DYZ19 ****
22255566-C-G 20093680-C-G DYZ19 ****
14286132-A-G 12165426-A-G **
14195817-CAAAAAAA-C 12075111-CAAAAAAA-C 14×A**
14183154-A-G 12062448-A-G **
14109458-A-G 11988752-A-G **
14079722-C-A 11959016-C-A **
14050797-G-C 11930091-G-C Y48924 **
14050622-C-A 11929916-C-A **
13963275-T-A 11842569-T-A **
13799476-A-C 11678770-A-C **
13953403-C-A 11832697-C-A **
13923750-C-A 11803044-C-A **
11668692-T-A **
11656647-C-A **
11647846-G-T **
14312158-T-G 12191452-T-G **
11643765-A-AATCTAACAGC **
11643749-G-GAACAC **
11643743-G-GAAAT **
16017640-C-A 13905760-C-A **
14312065-A-G 12191359-A-G **
14986142-T-C 12874210-T-C **
14354968-C-A 12234263-C-A **
15137885-C-A 13025972-C-A Y93119 **
15677340-C-A 13565460-C-A **
15622577-G-A 13510697-G-A **
15696919-A-G 13585039-A-G **
15696923-C-T 13585043-C-T **
13696314-C-A 11540638-C-A **
15536419-A-G 13424539-A-G **
15452262-C-T 13340382-C-T **
15333398-A-T 13221516-A-T **
15769342-G-T 13657462-G-T **
14384115-G-T 12263411-G-T **
16006878-C-A 13894998-C-A **
15116484-C-A 13004571-C-A **
15115379-C-A 13003466-C-A **
14485165-A-T 12364434-A-T **
14472994-G-T 12352263-G-T **
14453756-A-T 12333029-A-T **
14432173-C-A 12311446-C-A **
14431121-C-A 12310394-C-A **
14390128-C-A 12269424-C-A **
11643742-T-TA **
11011548-C-A **
13632806-A-T 11477130-A-T **
10692230-A-G **
10856219-T-A **
10823502-C-A **
10813176-C-A **
10809362-C-A **
10789082-T-A **
10758718-C-A **
10752488-C-A **
10748332-C-A **
10677176-C-A **
10867032-C-A **
10646767-C-G **
10646766-C-T **
10040052-C-A 10202443-C-A **
10029950-C-A 10192341-C-A **
10023408-T-C 10185799-T-C **
10019742-C-A 10182133-C-A **
9512013-A-T 9674404-A-T **
9063774-G-T 9226165-G-T **
10866880-T-G **
10873497-C-A **
13588701-C-A 11433025-C-A **
13305580-C-G 11149904-C-G **
13567145-T-G 11411469-T-G **
13550725-A-G 11395049-A-G **
13512951-C-A 11357275-C-A **
13495870-C-A 11340194-C-A **
13495740-A-G 11340064-A-G **
13489631-ACCCAC-A 11333955-ACCCAC-A **
13442441-A-G 11286765-A-G **
13441707-T-C 11286031-T-C **
13226797-TG-T 11071121-TG-T **
10873527-C-A **
13224657-C-A 11068981-C-A **
13213761-T-C 11058085-T-C **
11025977-TCACTCCTTTCCAATC-T **
11025941-T-G **
16049929-C-T 13938049-C-T **
11009189-G-A **
10956584-C-T **
10902288-C-A **
10896372-C-G **
16017648-C-A 13905768-C-A **
17860748-G-A 15748868-G-A **
16052767-C-A 13940887-C-A **
22517115-A-G 20355229-A-G **
23185200-A-T 21023314-A-T **
23066645-T-C 20904759-T-C **
22899921-C-T 20738035-C-T Y58432 **
22730690-A-G 20568804-A-G **
22659740-C-G 20497854-C-G **
22633927-A-C 20472041-A-C **
22619363-T-C 20457477-T-C **
22548134-A-T 20386248-A-T **
22209407-G-T 20047521-G-T **
23360748-A-T 21198862-A-T **
22135667-C-A 19973781-C-A **
22078098-C-A 19916212-C-A **
21834106-G-A 19672220-G-A **
21551696-T-A 19389810-T-A **
21502873-C-A 19340987-C-A **
21495333-A-AG 19333447-A-AG **
21409845-C-A 19247959-C-A **
21155122-A-G 18993236-A-G **
21127389-C-T 18965503-C-T **
23291295-C-A 21129409-C-A **
23528961-C-A 21367075-C-A **
20352260-C-A 18190374-C-A P5_Dst **
28530858-G-A 26384711-G-A **
56830294-A-ATTC **
56830286-T-TACACTCCACTCAATTCCATA **
56828559-C-CATCCT **
28778834-A-ATTC 26632687-A-ATTC 6×TTC**
28763848-TA-T 26617701-TA-T **
28731301-C-A 26585154-C-A **
28689084-A-T 26542937-A-T **
28534550-C-A 26388403-C-A **
28391019-G-T 26244872-G-T P1_gr2 **
23564674-T-A 21402788-T-A **
27902199-T-C 25756052-T-C P1_Y2 **
27762779-A-ACG 25616632-A-ACG P1_Y2 **
26088812-C-A 23942665-C-A P1_Y1 **
25602398-CTA-C 23456251-CTA-C P1_gr1 **
24665613-G-T 22519466-G-T P3_b2 **
24417118-CAGAA-C 22270971-CAGAA-C 5×AGAA**
24271378-A-AT 22125231-A-AT P3_b1 **
23875713-A-G 21713827-A-G **
23569153-C-A 21407267-C-A **
20815635-C-T 18653749-C-T P4_Gap **
20216044-T-G 18054158-T-G P5_Dst **
16079358-A-G 13967478-A-G **
17098813-C-A 14986933-C-A **
18154541-C-A 16042661-C-A **
18093975-T-A 15982095-T-A **
17945005-A-G 15833125-A-G **
17928664-T-G 15816784-T-G **
8731068-T-C 8863027-T-C **
17638342-C-A 15526462-C-A **
17385609-G-A 15273729-G-A **
17263237-C-A 15151357-C-A **
17087609-G-T 14975729-G-T FGC7320 **
18189716-G-A 16077836-G-A **
17063728-A-G 14951848-A-G **
16932774-T-C 14820894-T-C **
16931848-G-T 14819968-G-T **
16896587-C-A 14784707-C-A **
16828728-C-A 14716848-C-A **
16710056-C-A 14598176-C-A **
16645609-C-A 14533729-C-A **
16605088-A-T 14493208-A-T **
16493051-T-C 14381171-T-C **
18174927-C-G 16063047-C-G **
18201183-C-A 16089303-C-A **
19958286-T-TA 17846406-T-TA P5_Prx **
19125477-C-CTT 17013597-C-CTT **
19958268-C-A 17846388-C-A P5_Prx **
19528447-C-A 17416567-C-A **
19235331-C-A 17123451-C-A **
19187666-G-C 17075786-G-C **
19187595-T-C 17075715-T-C **
19187586-C-T 17075706-C-T **
19125491-C-T 17013611-C-T **
19125487-A-T 17013607-A-T **
19125471-G-A 17013591-G-A **
18618177-C-A 16506297-C-A **
19125468-G-A 17013588-G-A **
19125462-G-A 17013582-G-A **
19125458-G-A 17013578-G-A **
19088140-T-A 16976260-T-A **
18807974-C-A 16696094-C-A **
18793658-C-G 16681778-C-G **
18733685-T-A 16621805-T-A **
18733672-T-TA 16621792-T-TA **
18733669-C-A 16621789-C-A **
9063698-C-A 9226089-C-A **
7645444-C-A 7777403-C-A **
8379439-T-C 8511398-T-C **
19490979-C-A 17379099-C-A **
10877638-C-A **
5459810-C-A 5591769-C-A **
5219087-C-A 5351046-C-A **
4900774-G-T 5032733-G-T **
7095116-T-C 7227075-T-C **
28535692-C-A 26389545-C-A **
15158607-G-A 13046693-G-A **
3853663-C-A 3985622-C-A **
17876362-C-A 15764482-C-A **
21503239-C-A 19341353-C-A **
14639169-C-A 12527238-C-A **
14395645-C-A 12274941-C-A **
7239591-C-A 7371550-C-A **
22325411-T-C 20163525-T-C DYZ19 **
18244623-C-A 16132743-C-A **
3804714-C-A 3936673-C-A **
10785242-C-G **
3271416-C-A 3403375-C-A **
9761100-C-A 9923491-C-A **
19125467-G-A 17013587-G-A **
56851626-G-T **
28534448-C-A 26388301-C-A **
18255959-G-T 16144079-G-T **
8398981-C-A 8530940-C-A **
13962068-TTTG-T 11841362-TTTG-T **
28461630-C-A 26315483-C-A **
11000341-C-A **
22124438-C-A 19962552-C-A **
25892188-A-G 23746041-A-G P1_Y1 **
8344232-C-T 8476191-C-T **
25970734-T-TTA 23824587-T-TTA P1_Y1 13×TC**
3994768-C-A 4126727-C-A **
16847629-C-A 14735749-C-A **
5888274-C-A 6020233-C-A **
23955014-C-A 21808867-C-A **
20215901-T-TAC 18054015-T-TAC P5_Dst **
10896320-T-C **
13999117-C-A 11878411-C-A **
10896325-T-A **
19187629-A-AT 17075749-A-AT **
17622703-C-A 15510823-C-A **
2833251-C-A 2965210-C-A **
56828589-C-T **
7142024-C-A 7273983-C-A **
17490210-C-A 15378330-C-A **
28536313-C-A 26390166-C-A **
14483675-C-A 12362944-C-A **
20637569-C-A 18475683-C-A P4_Prx **
21846452-CTTTTTT-C 19684566-CTTTTTT-C 26×T**
7138958-C-A 7270917-C-A **
58974776-C-A 56828629-C-A **
3732187-C-A 3864146-C-A **
58974741-G-A 56828594-G-A **
14203430-CA-C 12082724-CA-C 23×A**
15146353-A-G 13034440-A-G **
19187600-C-T 17075720-C-T **
13489618-CA-C 11333942-CA-C **
16181345-T-A 14069465-T-A ****
21966323-C-A 19804437-C-A **
15595013-C-A 13483133-C-A **
13857446-G-C 11736740-G-C **
3925805-C-A 4057764-C-A **
17146542-G-A 15034662-G-A **
19125496-T-C 17013616-T-C **
13216598-C-A 11060922-C-A **
15157414-C-A 13045501-C-A **
14463600-T-G 12342873-T-G **
10868448-C-A **
13468244-GC-G 11312568-GC-G **
19125511-C-T 17013631-C-T **
19125506-T-C 17013626-T-C **
19125499-T-G 17013619-T-G **
19125489-A-T 17013609-A-T **
14802752-C-A 12690823-C-A **
15431902-C-A 13320022-C-A **
14324943-A-C 12204237-A-C **
10669537-T-A **
22662432-C-A 20500546-C-A **
10896315-T-C **
26153989-TG-T 24007842-TG-T P1_Y1 **
19187619-C-T 17075739-C-T **
3627884-C-A 3759843-C-A **
10756957-T-C **
7095107-T-G 7227066-T-G **
6922617-C-A 7054576-C-A **
4920988-A-G 5052947-A-G **
5669978-C-A 5801937-C-A **
5620805-C-A 5752764-C-A **
5544981-G-T 5676940-G-T **
5524824-C-A 5656783-C-A **
5426527-C-A 5558486-C-A **
5367805-T-A 5499764-T-A **
5294487-G-A 5426446-G-A **
5071575-C-A 5203534-C-A **
3854144-C-A 3986103-C-A **
6179644-T-A 6311603-T-A IR3_Dst **
4388576-T-C 4520535-T-C **
4326432-C-A 4458391-C-A **
4244482-C-A 4376441-C-A **
4114859-C-A 4246818-C-A **
4061990-G-T 4193949-G-T **
3275603-T-C 3407562-T-C **
3178931-C-T 3310890-C-T **
3158829-C-A 3290788-C-A **
5691004-C-A 5822963-C-A **
6421334-G-T 6553293-G-T **
2888840-C-G 3020799-C-G **
7314499-C-A 7446458-C-A **
8237396-A-T 8369355-A-T A8482 **
8140595-C-A 8272554-C-A **
7923912-A-G 8055871-A-G **
7860171-C-A 7992130-C-A **
7713163-A-T 7845122-A-T **
7437528-A-G 7569487-A-G **
7333064-C-A 7465023-C-A **
7322961-C-A 7454920-C-A **
7304579-C-A 7436538-C-A **
6576620-C-A 6708579-C-A **
7217386-C-G 7349345-C-G **
7164439-C-A 7296398-C-A **
7097397-G-T 7229356-G-T **
7085416-C-A 7217375-C-A **
7058405-C-G 7190364-C-G **
7043525-A-G 7175484-A-G **
7012270-C-A 7144229-C-A **
6856660-C-A 6988619-C-A **
6646978-C-A 6778937-C-A **
2892667-C-A 3024626-C-A **
4437957-C-A 4569916-C-A **
2784523-A-T 2916482-A-T **
19187638-A-AT 17075758-A-AT **
10885127-C-A **
16057283-C-A 13945403-C-A **
10800959-C-A **
21699168-C-A 19537282-C-A **
3178080-C-A 3310039-C-A **
15696918-C-T 13585038-C-T **
2708285-C-A 2840244-C-A **
11026022-C-A **
25892194-T-TAC 23746047-T-TAC P1_Y1 **
9926712-C-A 10089103-C-A **
6772541-C-A 6904500-C-A **
15500652-C-A 13388772-C-A **
26463009-C-A 24316862-C-A P1_Y1 **
10896363-C-A **
7990781-C-A 8122740-C-A **
7294348-C-A 7426307-C-A **
56830296-T-TTA **
14398289-C-A 12277585-C-A **
13255598-C-A 11099922-C-A **
6167821-A-G 6299780-A-G IR3_Dst **
28627325-C-A 26481178-C-A **
7590475-G-T 7722434-G-T **
13585219-C-A 11429543-C-A **
10899270-C-A **
19125448-C-A 17013568-C-A **
11022921-C-CCATTT **
56828630-A-G **
9321951-C-T 9484342-C-T ***
58980651-AC-A 56834504-AC-A ***
13434382-C-A 11278706-C-A ***
14557486-G-T 12445687-G-T ***
14624302-T-A 12512502-T-A ***
14785783-T-C 12673853-T-C ***
15593274-CAAAAAAAAAA-C 13481394-CAAAAAAAAAA-C 23×A***
14788545-C-A 12676616-C-A ***
13453840-C-CTCCAT 11298164-C-CTCCAT 10×TCCAT***
25141160-A-G 22995013-A-G g1 ***
22760664-C-A 20598778-C-A ***
24947715-A-G 22801568-A-G g1 ***
9461797-G-T 9624188-G-T ***
13857490-G-A 11736784-G-A ***
24946279-G-A 22800132-G-A g1 ***
9178461-C-A 9340852-C-A ***
22293252-C-A 20131366-C-A DYZ19 ***
22282947-T-C 20121061-T-C DYZ19 ***
24164953-A-G 22018806-A-G P3_b1 ***
19436730-AAGAAAGAA-A,AAGAG 17324850-AAGAAAGAA-A,AAGAG ***
14459897-C-A 12339170-C-A ***
21555084-G-GT 19393198-G-GT ***
17090562-A-G 14978682-A-G ***
13488475-C-A 11332799-C-A ***
21219889-C-A 19058003-C-A ***
21407217-G-T 19245331-G-T ***
11014458-A-G ***
14376764-A-G 12256060-A-G ***
6513330-C-A 6645289-C-A ***
8982913-C-A 9145304-C-A ***
17946635-CTTTTTTTTT-C 15834755-CTTTTTTTTT-C 20×T***
19124936-C-CT 17013056-C-CT ***
6930393-C-A 7062352-C-A ***
16458148-C-A 14346268-C-A ***
14610468-CCCT-C 12498670-CCCT-C ***
13857458-A-AC 11736752-A-AC ***
10692172-C-A ***
16075324-C-T 13963444-C-T ***
18855403-CTTTTT-C 16743523-CTTTTT-C 14×T***
19538058-C-A 17426178-C-A ***
7098902-TAAAA-T,TAAA 7230861-TAAAA-T,TAAA 16×A***
14444881-C-A 12324154-C-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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual4585565-A-G4717524-A-G3G
Manual14539162-G-A12427363-G-A5A

Age Analysis Information (work in progress)

AllMcDonaldYFull
Kit: 2449911079208478345837923358
Kit: 244991973806479744317887374
Used in age calculations1079208479744317923358
Counts of SNPs2217
Variant counts last updated 2018-05-28 19:51:08.



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