unknown

BigY2: 49328

Tree Position

R-P312/S116 > Z40481 > ZZ11 > BY140446

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
49328
24294339-C-T 22148192-C-T P3_t1 A*
6243472-G-T 6375431-G-T IR3_Dst A*
19676359-G-T 17564479-G-T P5_Prx A*
20051809-A-G 17939929-A-G P5_Prx A*
20054537-G-T 17942657-G-T P5_Prx A*
22286307-T-G 20124421-T-G DYZ19 A*
23181816-A-G 21019930-A-G YA*
24254603-A-C 22108456-A-C P3_b1 A*
26243354-C-A 24097207-C-A P1_Y1 A*
8095038-G-A 8226997-G-A A10557 7875984-A-GA10561 YY+
2886942-A-G 3018901-A-G BY57065 YY+
2901989-G-A 3033948-G-A BY57186 YY+
6706888-A-G 6838847-A-G BY60855 YY+
7245514-CTCT-C 7377473-CTCT-C +
7692950-C-A 7824909-C-A BY66960 YY+
8165941-T-A 8297900-T-A BY70447 YY+
8209788-T-G 8341747-T-G BY70769 YY+
8398372-C-T 8530331-C-T BY72329 YY+
8762893-G-T 8894852-G-T BY75709 YY+
9388903-A-G 9551294-A-G BY156080 Y+
9646489-A-T 9808880-A-T BY80344 IR3_Prx +
13621369-C-T 11465693-C-T BY86710 +
13819555-A-T 11698849-A-T BY90504 +
14987928-A-G 12875994-A-G BY98930 YY+
15229938-C-T 13118024-C-T BY100326 Y+
15229958-A-C 13118044-A-C BY100327 Y+
16335481-A-C 14223601-A-C BY107025 YY+
16797718-A-G 14685838-A-G BY110221 YY+
16805972-T-G 14694092-T-G BY156602 YY+
17614784-C-A 15502904-C-A BY116185 YY+
18160356-G-A 16048476-G-A FT181384 YY+
18176267-C-T 16064387-C-T FGC30355 YY+
18758440-A-G 16646560-A-G BY123677 YY+
18777028-A-G 16665148-A-G BY123825 YY+
18865116-T-G 16753236-T-G BY124360 YY+
21188239-G-A 19026353-G-A YY+
21825953-C-A 19664067-C-A BY135748 YY+
21978516-T-A 19816630-T-A BY136796 YY+
21979043-C-T 19817157-C-T BY136802 YY+
22289158-G-A 20127272-G-A FT455118 DYZ19 +
22301198-T-C 20139312-T-C BY216880 DYZ19 +
22458555-C-A 20296669-C-A FT457331 DYZ19 +
22673411-C-T 20511525-C-T FGC18422 YY+
23067119-CT-C 20905233-CT-C +
23450123-T-C 21288237-T-C BY145356 YY+
23500135-C-T 21338249-C-T BY55473 YY+
23819278-A-G 21657392-A-G BY148006 Y+
28804297-G-A 26658150-G-A FT462312 +
22300532-G-A 20138646-G-A DYZ19 *
22432752-A-T 20270866-A-T BY9964 DYZ19 *
8634381-TACACACACACACAC-T 8766340-TACACACACACACAC-T 22×AC*
28793471-G-T 26647324-G-T *
7224929-G-A 7356888-G-A A5530 FGC35628 **
22509754-A-T 20347868-A-T BY26594 DYZ19 **
23376885-G-A 21214999-G-A **
7311461-TTTCCTTCC-T 7443420-TTTCCTTCC-T 9×TTCC**
16437487-C-A 14325607-C-A **
16351906-G-T 14240026-G-T **
13705560-G-A 11549884-G-A **
10676840-T-G **
10676846-T-C **
7201602-A-T 7333561-A-T **
10753229-C-A **
10943702-A-C **
10943712-G-A FT92072 **
10943723-G-T **
10943735-C-G **
10943739-T-TCCTCTCCAGA **
10943765-C-T **
10943768-C-CT **
8970842-G-GAA 9133233-G-GAA 16×A**
15881843-T-C 13769963-T-C **
10772013-T-G **
10753189-C-T **
6645995-C-A 6777954-C-A **
10648044-C-A **
28558244-C-A 26412097-C-A **
21884734-C-A 19722848-C-A **
22241616-G-T 20079730-G-T DYZ19 **
10821954-T-A **
10821981-C-A **
22011896-C-A 19850010-C-A **
19007822-C-A 16895942-C-A **
10948033-C-A **
2747818-AAT-A 2879777-AAT-A **
18564880-C-A 16453000-C-A **
10800528-T-C **
10832406-A-T **
17375303-G-T 15263423-G-T **
6663101-C-A 6795060-C-A **
15107117-A-AT 12995204-A-AT 9×T**
7305697-C-A 7437656-C-A **
10648117-C-T **
7234581-C-A 7366540-C-A **
18997304-C-A 16885424-C-A **
18119737-A-T 16007857-A-T **
10785988-C-T **
10827911-A-G **
10827912-C-A **
10827914-C-A **
15264760-C-A 13152849-C-A **
4920533-G-T 5052492-G-T **
10889828-T-TATGAA **
10924367-C-A **
9063859-C-CTT 9226250-C-CTT 16×T**
14388709-A-T 12268005-A-T **
14388711-A-G 12268007-A-G **
10778993-C-A **
10929757-C-A **
15401997-C-A 13290117-C-A **
3164573-C-A 3296532-C-A FT92691 **
14369751-G-T 12249047-G-T **
18185344-A-G 16073464-A-G **
13445553-C-A 11289877-C-A **
14589279-C-A 12477479-C-A **
10800547-T-C **
10800554-C-T **
11016224-T-C **
10947642-C-A **
28574954-C-A 26428807-C-A **
13493903-C-A 11338227-C-A **
10754985-T-A **
10814333-C-A **
23256489-C-A 21094603-C-A **
14880330-C-A 12768400-C-A **
9941120-G-A 10103511-G-A FT361945 **
8737704-C-A 8869663-C-A **
10684415-G-T **
14393412-C-T 12272708-C-T **
10753224-C-A **
22202587-GA-G 20040701-GA-G **
15881834-C-T 13769954-C-T BY205232 **
11647781-G-T **
10924372-C-T **
17675475-C-T 15563595-C-T **
8816471-C-A 8948430-C-A FTB51758 **
17177426-C-A 15065546-C-A **
7430428-C-A 7562387-C-A **
14032154-G-T 11911448-G-T **
22044210-C-A 19882324-C-A **
9865265-C-A 10027656-C-A **
23996894-C-A 21850747-C-A **
14388694-A-G 12267990-A-G **
25850845-G-T 23704698-G-T P1_Y1 **
10656043-C-A **
2724348-T-G 2856307-T-G **
2812945-T-G 2944904-T-G **
2902163-A-T 3034122-A-T **
3272833-G-A 3404792-G-A **
3533517-G-T 3665476-G-T **
3599125-C-A 3731084-C-A **
3662752-C-A 3794711-C-A **
4146978-G-A 4278937-G-A **
4282562-C-G 4414521-C-G **
4388124-C-T 4520083-C-T **
4769549-C-A 4901508-C-A **
5359038-G-T 5490997-G-T **
5657908-C-A 5789867-C-A **
6085832-C-A 6217791-C-A **
6421757-A-AT 6553716-A-AT 8×T**
6767876-A-T 6899835-A-T **
7053856-C-A 7185815-C-A **
7263702-T-C 7395661-T-C 6×TTA**
7664116-C-A 7796075-C-A **
7964589-T-C 8096548-T-C **
8020240-AAAAGAC-A 8152199-AAAAGAC-A **
8142837-G-T 8274796-G-T **
8677943-C-A 8809902-C-A **
8749153-T-G 8881112-T-G **
8761353-A-G 8893312-A-G **
9404409-A-T 9566800-A-T **
9420315-C-A 9582706-C-A **
9508008-TTTTTTTTTAG-T 9670399-TTTTTTTTTAG-T **
9601720-C-A 9764111-C-A IR3_Prx **
9826253-C-A 9988644-C-A **
9977896-C-G 10140287-C-G **
10029488-C-T 10191879-C-T **
10648093-A-AC **
10648095-TC-T **
10676814-TTCATA-T **
10754122-T-C **
10765866-A-C **
10798997-T-G **
10799560-C-A **
10800365-C-T FT431778 **
10804477-T-A **
10804488-C-G **
10804497-T-TA **
10829804-T-G **
10836588-C-A **
10857289-CTCCACTCCAT-C **
10859120-C-A **
10880565-A-T **
10885455-C-A **
10885887-C-A **
10902253-C-A **
10945039-T-C **
10949048-C-T **
10950315-C-T **
10960219-C-A **
10982984-T-G **
10984150-C-G **
10990468-C-T **
10993705-T-G **
11016195-T-A **
11016209-TTCCAG-T **
11027069-C-A **
13208192-C-A 11052516-C-A **
13305724-G-A 11150048-G-A **
13484563-A-C 11328887-A-C **
13587976-C-A 11432300-C-A **
11653370-A-G **
13946235-C-A 11825529-C-A **
13973342-C-A 11852636-C-A **
14167912-C-A 12047206-C-A **
14264410-C-A 12143704-C-A **
14267146-C-A 12146440-C-A **
14284221-C-A 12163515-C-A **
14388664-G-A 12267960-G-A FT296133 **
14388678-A-C 12267974-A-C **
14388684-C-T 12267980-C-T **
14388685-A-G 12267981-A-G **
14388689-G-A 12267985-G-A FGC67292 **
14388705-G-A 12268001-G-A **
14388713-A-T 12268009-A-T **
14388717-T-C 12268013-T-C **
14438016-G-A 12317289-G-A **
14440111-G-T 12319384-G-T **
14490952-C-T 12370221-C-T **
14538761-C-T 12426962-C-T **
14556946-T-TA 12445147-T-TA 8×A**
14561231-T-G 12449432-T-G **
14712516-C-A 12600583-C-A **
14743752-C-A 12631821-C-A **
14747512-C-T 12635581-C-T **
14893080-C-T 12781146-C-T **
14919347-G-A 12807412-G-A **
14981702-G-T 12869778-G-T **
14995639-C-A 12883724-C-A **
15145736-C-A 13033823-C-A **
15208106-C-A 13096192-C-A **
15358761-G-T 13246880-G-T 26×A**
15495060-C-T 13383180-C-T **
15556081-C-A 13444201-C-A **
15657959-C-A 13546079-C-A **
15689043-T-A 13577163-T-A **
15860744-G-T 13748864-G-T **
15862948-G-T 13751068-G-T **
15881840-G-A 13769960-G-A **
15912213-C-G 13800333-C-G **
15951253-TCTTATTTTCATTTCACA-T 13839373-TCTTATTTTCATTTCACA-T **
16181445-C-T 14069565-C-T **
16253943-A-T 14142063-A-T **
16259321-C-A 14147441-C-A **
16545448-A-C 14433568-A-C **
16545453-A-C 14433573-A-C **
16836681-A-G 14724801-A-G **
16836687-C-T 14724807-C-T **
16836692-A-G 14724812-A-G **
16836694-A-C 14724814-A-C **
16836695-T-C 14724815-T-C **
16836707-T-A 14724827-T-A **
16836708-C-G 14724828-C-G **
16897610-C-A 14785730-C-A **
16938242-C-T 14826362-C-T FGC78977 **
17317652-G-T 15205772-G-T **
17317708-C-T 15205828-C-T **
17333371-T-TAA 15221491-T-TAA 10×A**
17403729-C-A 15291849-C-A **
17420413-A-G 15308533-A-G **
17504831-G-A 15392951-G-A **
17650220-G-T 15538340-G-T **
17755956-C-A 15644076-C-A **
17924209-C-A 15812329-C-A **
17928046-G-T 15816166-G-T **
18185566-G-T 16073686-G-T **
18201576-T-C 16089696-T-C **
18222433-C-A 16110553-C-A **
18531061-C-A 16419181-C-A P6_Dst **
18570027-C-A 16458147-C-A **
18653204-C-T 16541324-C-T **
18692733-G-T 16580853-G-T **
18768644-C-A 16656764-C-A **
18782442-A-C 16670562-A-C **
19253278-G-T 17141398-G-T **
19377115-G-T 17265235-G-T **
19479793-T-G 17367913-T-G **
20712246-A-T 18550360-A-T P4_Prx **
20884005-C-A 18722119-C-A P4_Dst **
21190362-C-A 19028476-C-A **
21617628-A-G 19455742-A-G **
21617630-TA-T 19455744-TA-T **
21706112-C-CT 19544226-C-CT 8×T**
22080477-C-A 19918591-C-A **
22167267-T-A 20005381-T-A **
22190669-T-A 20028783-T-A **
22241615-T-C 20079729-T-C DYZ19 **
22241619-C-G 20079733-C-G DYZ19 **
22634833-TTC-T 20472947-TTC-T **
22749417-G-T 20587531-G-T FTB44276 **
22775518-C-A 20613632-C-A **
22874559-A-G 20712673-A-G **
23069035-C-A 20907149-C-A **
23158911-C-A 20997025-C-A **
23176925-C-A 21015039-C-A **
23187602-C-A 21025716-C-A **
23198021-TGG-T 21036135-TGG-T **
23376884-T-C 21214998-T-C **
23376890-T-A 21215004-T-A **
23821985-A-G 21660099-A-G **
24518575-C-T 22372428-C-T **
25356683-G-T 23210536-G-T P2_r2 **
28514498-A-C 26368351-A-C **
28559048-A-T 26412901-A-T **
28648634-C-A 26502487-C-A **
56825752-T-C **
56883703-A-G **
24960-G-C **
24979-G-T **
10972255-A-T ***
16046175-C-CT 13934295-C-CT 9×T***
7253998-C-A 7385957-C-A ***
10782399-C-A ***
22935440-C-A 20773554-C-A ***
11038162-C-G ***
8906894-T-C 9038853-T-C ***
13489041-G-T 11333365-G-T ***
21815962-ATT-A 19654076-ATT-A 11×T***
6780870-CAAAA-C 6912829-CAAAA-C 26×A***
16427383-C-A 14315503-C-A ***
10999881-T-TTTGAG ***
10817301-C-A ***
11038205-C-A ***
11025082-C-A ***
10946379-C-A ***
22335155-C-A 20173269-C-A DYZ19 ***
19338659-C-CAA 17226779-C-CAA 10×A***
7784370-C-A 7916329-C-A ***
6922841-C-A 7054800-C-A ***
17405773-C-A 15293893-C-A ***
10800515-C-A ***
2740501-G-A 2872460-G-A ***
6149773-G-A 6281732-G-A IR3_Dst ***
6356548-C-A 6488507-C-A ***
6878904-C-A 7010863-C-A ***
7195246-C-T 7327205-C-T ***
7240548-C-A 7372507-C-A ***
7628224-C-A 7760183-C-A ***
7768562-C-A 7900521-C-A ***
7870546-G-GAA 8002505-G-GAA 10×A***
8906896-T-C 9038855-T-C ***
9023150-AT-A 9185541-AT-A ***
10020368-C-A 10182759-C-A ***
10878340-A-ACTCTG,G ***
10965383-C-A ***
11038174-C-A ***
11038206-A-T ***
13453278-CAGTTT-ACCTTT,C 11297602-CAGTTT-ACCTTT,C ***
13460226-G-T 11304550-G-T ***
13642478-G-A 11486802-G-A BY31711 ***
13935501-T-A 11814795-T-A ***
14294347-A-AT 12173641-A-AT ***
14940330-C-A 12828404-C-A ***
15068784-C-A 12956875-C-A ***
15180707-T-C 13068793-T-C ***
15276882-GAAA-G,GAA 13164971-GAAA-G,GAA 18×A***
15476974-C-A 13365094-C-A FTA2526 ***
17077137-C-A 14965257-C-A ***
19415140-C-A 17303260-C-A ***
19422083-C-A 17310203-C-A ***
21404313-T-C 19242427-T-C ***
22063092-C-A 19901206-C-A ***
23468376-CT-C,CTT 21306490-CT-C,CTT 11×T***
23528608-C-T 21366722-C-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.