Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > S1026

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
B1819
13452300-A-T 11296624-A-T A*
6309209-T-C 6441168-T-C IR3_Dst A*
18352690-C-G 16240810-C-G P6_Prx A*
19681709-C-G 17569829-C-G P5_Prx A*
20722953-G-A 18561067-G-A P4_Prx A*
20736828-G-A 18574942-G-A P4_Prx A*
22253999-G-T 20092113-G-T DYZ19 A*
2888095-C-T 3020054-C-T Y129874 YY+
7746494-T-G 7878453-T-G BY67316 YY+
8190980-G-A 8322939-G-A BY70572 YY+
8402688-A-C 8534647-A-C BY72368 YY+
8887969-T-C 9019928-T-C BY76661 Y+
13705224-T-C 11549548-T-C FT449089 +
13822219-C-A 11701513-C-A BY90577 +
14404139-T-C 12283436-T-C BY95497 YY+
15441578-T-A 13329698-T-A BY101601 YY+
15635617-A-G 13523737-A-G BY103040 YY+
17119795-G-C 15007915-G-C BY112449 YY+
17996325-A-T 15884445-A-T BY119051 P7_Gap Y+
18061785-C-T 15949905-C-T BY119552 YY+
18996768-A-G 16884888-A-G BY43536 YY+
19221340-T-C 17109460-T-C BY127395 YY+
21416113-A-C 19254227-A-C BY132782 YY+
21661025-G-A 19499139-G-A BY134568 YY+
21826608-A-T 19664722-A-T BY135760 YY+
22440124-G-T 20278238-G-T BY208509 DYZ19 +
22465508-G-A 20303622-G-A BY52925 DYZ19 +
22471255-C-G 20309369-C-G BY208537 DYZ19 +
22480092-C-T 20318206-C-T BY208560 DYZ19 +
22638514-T-C 20476628-T-C BY139684 Y+
28548179-C-T 26402032-C-T BY150669 Y+
7463312-G-T 7595271-G-T FTA17546 IR1_L *
13693468-G-A 11537792-G-A *
22288083-T-A 20126197-T-A BY209187 DYZ19 *
22302615-A-T 20140729-A-T DYZ19 *
13859440-G-C 11738734-G-C **
21398584-T-A 19236698-T-A 2895596-C-TF3195 M5532 PF1806 **
15943362-T-C 13831482-T-C Y10278 **
19375385-G-T 17263505-G-T PR6464 FT163992 **
16056141-C-A 13944261-C-A **
14033990-G-T 11913284-G-T **
16705573-C-A 14593693-C-A **
10804844-A-C **
16653072-A-G 14541192-A-G **
10976245-C-A **
10946619-C-A **
18524241-G-T 16412361-G-T P6_Dst **
10896373-C-G **
10949524-A-T **
10949543-C-T **
4208839-C-A 4340798-C-A **
13934383-C-A 11813677-C-A **
7425236-C-A 7557195-C-A **
10763018-T-C **
10991849-C-A **
21855938-C-A 19694052-C-A **
20574850-C-A 18412964-C-A P5_Dst **
10978897-ACCATT-A **
21703274-C-A 19541388-C-A **
10746805-C-A **
13859425-G-A 11738719-G-A **
28460840-C-A 26314693-C-A **
11667144-C-A **
10974764-A-C **
10683415-C-A **
8690810-C-A 8822769-C-A **
11012363-A-T **
17086555-A-T 14974675-A-T BY112203 **
21427782-C-A 19265896-C-A **
10985261-T-C **
15971661-G-C 13859781-G-C **
14539551-T-C 12427752-T-C **
9231764-C-A 9394155-C-A **
9231786-C-A 9394177-C-A **
8481986-C-A 8613945-C-A **
10827917-T-A **
10941802-C-A **
3790590-C-A 3922549-C-A **
5454783-C-A 5586742-C-A **
10976226-C-A **
8036310-T-TA 8168269-T-TA 8×A**
28484210-C-A 26338063-C-A **
56839275-G-T **
10993137-C-A **
7187742-C-A 7319701-C-A **
15320550-A-C 13208656-A-C **
20817475-C-A 18655589-C-A P4_Gap **
10745286-G-T **
14714690-A-T 12602757-A-T **
9961508-G-T 10123899-G-T **
10744277-C-A **
11012341-T-A **
22611874-C-CT 20449988-C-CT 9×T**
7307625-C-A 7439584-C-A **
7102610-C-A 7234569-C-A **
28483804-G-A 26337657-G-A **
7865964-C-A 7997923-C-A **
23848388-G-T 21686502-G-T **
14539574-G-A 12427775-G-A **
6784293-C-A 6916252-C-A **
4553034-T-C 4684993-T-C **
17604931-GTTTTTT-G 15493051-GTTTTTT-G 24×T**
14986007-C-T 12874075-C-T **
14539558-T-C 12427759-T-C **
14539562-T-C 12427763-T-C **
7704941-C-A 7836900-C-A **
13326291-C-A 11170615-C-A **
6923113-C-A 7055072-C-A **
21582336-CT-C 19420450-CT-C **
16719759-C-A 14607879-C-A **
10976249-C-A **
10912831-G-A **
8399140-T-C 8531099-T-C **
23062727-C-A 20900841-C-A **
16040958-C-A 13929078-C-A **
10977828-C-A **
17188113-C-A 15076233-C-A FTB37150 **
10971215-G-T **
56846663-T-A **
10020348-A-G 10182739-A-G **
2700038-C-A 2831997-C-A **
2833331-C-G 2965290-C-G **
2902231-C-A 3034190-C-A **
3110493-G-T 3242452-G-T **
3251325-C-A 3383284-C-A **
3306312-GA-G 3438271-GA-G **
3627686-A-AG 3759645-A-AG **
3703712-C-A 3835671-C-A **
4092999-G-T 4224958-G-T **
4142285-C-A 4274244-C-A **
4160317-G-A 4292276-G-A **
4171982-T-A 4303941-T-A **
4223957-G-A 4355916-G-A **
4261983-C-A 4393942-C-A **
4502899-G-A 4634858-G-A FTB16377 **
4534540-G-T 4666499-G-T **
4760909-C-A 4892868-C-A **
4862838-C-T 4994797-C-T FTA52239 **
4986441-G-T 5118400-G-T **
5189735-G-T 5321694-G-T FTA52312 **
5264197-T-C 5396156-T-C FGC47752 **
5367509-T-TA 5499468-T-TA **
5378812-G-T 5510771-G-T **
5712573-G-T 5844532-G-T **
5785701-C-G 5917660-C-G 14×A**
5976565-C-A 6108524-C-A **
6085342-A-C 6217301-A-C **
6085381-A-C 6217340-A-C **
6634130-T-G 6766089-T-G **
6786603-A-C 6918562-A-C **
6957567-C-A 7089526-C-A **
7044476-C-A 7176435-C-A **
7151127-A-G 7283086-A-G **
7160453-G-T 7292412-G-T **
7199226-T-G 7331185-T-G **
7303232-T-G 7435191-T-G **
7407289-C-A 7539248-C-A **
7617634-C-T 7749593-C-T **
7617641-T-A 7749600-T-A **
7617651-C-T 7749610-C-T **
7617652-A-G 7749611-A-G **
7996869-C-A 8128828-C-A **
8158866-A-C 8290825-A-C **
8289220-C-T 8421179-C-T **
8343912-G-T 8475871-G-T **
8649788-A-G 8781747-A-G **
8658358-T-A 8790317-T-A **
8914933-G-T 9046892-G-T **
9114119-G-T **
9465344-TG-T 9627735-TG-T **
9509351-C-G 9671742-C-G **
10666168-C-A **
10667014-C-CGGATTA **
10775661-T-C **
10793896-C-A **
10798829-T-C **
10800836-A-T **
10827924-C-CCGATA **
10827932-A-TCCCACTTCAT **
10831690-CCATTG-C **
10838276-C-T **
10838596-T-A **
10847716-C-G **
10847800-T-A **
10847814-T-A **
10856549-T-A **
10856599-C-A **
10878783-C-A **
10882235-C-A **
10884347-C-A **
10888286-C-G **
10921696-T-A **
10922376-C-A **
10944555-A-G **
10948918-G-T **
10964721-ACACTT-A **
10964762-CAATCT-C **
10980050-C-A **
10986389-C-A **
10987026-G-T **
10990199-C-A **
11012226-T-A **
11012268-C-G **
13223742-G-T 11068066-G-T **
13625177-A-C 11469501-A-C **
13652366-T-C 11496690-T-C BY209186 **
11672020-A-G **
13805185-C-A 11684479-C-A **
13854292-A-G 11733586-A-G **
13860799-C-A 11740093-C-A **
13928133-A-C 11807427-A-C **
13993454-C-A 11872748-C-A **
14042665-C-T 11921959-C-T **
14093642-G-C 11972936-G-C **
14093644-C-A 11972938-C-A **
14131434-G-T 12010728-G-T **
14147033-T-G 12026327-T-G **
14245146-A-G 12124440-A-G **
14284604-T-G 12163898-T-G **
14284611-T-G 12163905-T-G **
14370833-G-A 12250129-G-A **
14539241-C-A 12427442-C-A **
14539576-T-G 12427777-T-G **
14554327-T-G 12442528-T-G **
14724582-A-C 12612650-A-C **
14832183-T-A 12720250-T-A **
14934467-T-G 12822532-T-G **
14969231-C-G 12857306-C-G **
15127075-G-T 13015162-G-T **
15161181-T-A 13049267-T-A **
15347039-C-A 13235158-C-A **
15697094-AATAAATAAATAAATAAATAAATAAATAAATAATAAAGTTATATAATATGCCTAACT-A 13585214-AATAAATAAATAAATAAATAAATAAATAAATAATAAAGTTATATAATATGCCTAACT-A **
15943446-G-T 13831566-G-T **
15943573-C-A 13831693-C-A **
15943793-C-G 13831913-C-G **
15971652-C-T 13859772-C-T **
16184364-G-T 14072484-G-T **
16214084-T-G 14102204-T-G **
16269311-A-C 14157431-A-C **
16269327-T-A 14157447-T-A **
16766294-T-C 14654414-T-C **
16790943-C-A 14679063-C-A **
17169867-C-T 15057987-C-T **
17367756-C-A 15255876-C-A **
17399961-T-A 15288081-T-A **
17601189-C-A 15489309-C-A **
17707138-G-A 15595258-G-A **
17707179-C-A 15595299-C-A **
17779773-C-A 15667893-C-A **
17808122-C-A 15696242-C-A **
17876257-C-A 15764377-C-A **
18059751-G-C 15947871-G-C **
18092851-C-G 15980971-C-G BY207715 **
18112406-C-A 16000526-C-A **
18546878-C-A 16434998-C-A **
18670172-A-C 16558292-A-C **
18725041-C-A 16613161-C-A **
18738836-T-C 16626956-T-C **
18845098-T-A 16733218-T-A **
19510367-C-T 17398487-C-T **
19564604-C-A 17452724-C-A **
20052975-A-T 17941095-A-T P5_Prx **
20052998-A-T 17941118-A-T P5_Prx **
20053014-C-G 17941134-C-G P5_Prx **
20053026-C-G 17941146-C-G P5_Prx **
20778784-T-TGTGC 18616898-T-TGTGC P4_Prx **
20809782-A-T 18647896-A-T P4_Gap **
20872435-T-TTA 18710549-T-TTA P4_Dst **
21093411-G-GTAT 18931525-G-GTAT **
21112116-G-T 18950230-G-T **
21133553-TCTC-T 18971667-TCTC-T **
21375665-C-A 19213779-C-A **
21477171-C-A 19315285-C-A **
21742588-T-G 19580702-T-G **
22002359-A-T 19840473-A-T **
22191625-G-T 20029739-G-T **
22529519-T-A 20367633-T-A **
22579497-G-A 20417611-G-A **
23080949-T-G 20919063-T-G **
23127092-A-G 20965206-A-G **
23196627-T-TAAA 21034741-T-TAAA 17×A**
23803264-C-A 21641378-C-A **
24876729-G-C 22730582-G-C g1 **
25720190-A-T 23574043-A-T P1_b3 **
26495110-C-A 24348963-C-A P1_Y1 **
27832323-G-T 25686176-G-T P1_Y2 **
28030709-C-T 25884562-C-T P1_Y2 **
28469419-T-G 26323272-T-G **
28566167-C-A 26420020-C-A **
28622570-A-T 26476423-A-T **
56838490-G-C **
56846617-T-A **
56846619-T-C **
56846681-T-C **
56847290-G-T **
56849105-C-T **
18927031-T-C 16815151-T-C CTS9484 PF3785 ***
13859410-G-C 11738704-G-C ***
14102297-CTATCT-C 11981591-CTATCT-C ***
13643353-T-G 11487677-T-G ***
4769362-G-A 4901321-G-A ***
10686658-CTCCTT-C,CTCCAT ***
17490401-C-A 15378521-C-A ***
14825842-TG-T 12713909-TG-T ***
35833-C-A ***
23416528-G-T 21254642-G-T ***
13854288-A-G 11733582-A-G ***
28462042-C-A 26315895-C-A ***
10973955-T-G ***
11651918-A-C ***
21566009-C-A 19404123-C-A ***
14552150-GA-G,GAA 12440351-GA-G,GAA 11×A***
15859437-C-CTT 13747557-C-CTT 17×T***
14285884-C-A 12165178-C-A ***
2803532-C-A 2935491-C-A ***
7633359-A-C 7765318-A-C ***
7864066-C-A 7996025-C-A ***
9895532-C-T 10057923-C-T ***
9978300-G-T 10140691-G-T ***
10660988-A-G ***
10764549-T-AATAC ***
10844325-A-C ***
10861759-C-A ***
15140629-G-C 13028716-G-C ***
15305858-T-A 13193960-T-A ***
15557050-AAG-A,AAAT 13445170-AAG-A,AAAT ***
15641966-T-C 13530086-T-C BY207050 ***
15948891-C-T 13837011-C-T FTA52638 ***
16387950-C-A 14276070-C-A ***
18188240-C-A 16076360-C-A ***
18665022-GT-G 16553142-GT-G ***
18724962-C-A 16613082-C-A ***
19239144-T-C 17127264-T-C ***
21285653-T-C 19123767-T-C BY208186 ***
21288088-C-A 19126202-C-A ***
21407144-G-T 19245258-G-T ***
23004979-T-C 20843093-T-C ***
23059452-C-A 20897566-C-A ***
23651016-G-T 21489130-G-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.