Blackford

BigY3: 399698
MDKA Birth: United States > Pennsylvania 1796

Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > FGC22501 > FGC22538 > 7063815-C-G > BY42672

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
399698
13842805-A-G 11722099-A-G A*
5298616-C-A 5430575-C-A A*
4104374-T-G 4236333-T-G FT165932 8×GA*
17078004-A-AT 14966124-A-AT 11×TA*
8272545-G-GT 8404504-G-GT 10×TA*
13842806-T-G 11722100-T-G A*
58977496-G-A 56831349-G-A A*
13489325-T-C 11333649-T-C A*
5552459-T-TA 5684418-T-TA 11×AA*
13449494-C-T 11293818-C-T A*
13478064-G-A 11322388-G-A A*
26417371-G-A 24271224-G-A P1_Y1 A*
13489893-A-T 11334217-A-T A*
3176953-G-GTA 3308912-G-GTA A*
6238753-T-C 6370712-T-C IR3_Dst A*
10627663-A-T A*
13687515-T-C 11531839-T-C A*
22231990-A-C 20070104-A-C DYZ19 A*
24343995-A-G 22197848-A-G P3_t1 A*
25506925-T-A 23360778-T-A P1_gr1 A*
25598881-A-T 23452734-A-T P1_gr1 A*
25900978-G-A 23754831-G-A P1_Y1 A*
26025324-C-A 23879177-C-A BY182446 P1_Y1 A*
26162275-G-T 24016128-G-T P1_Y1 A*
28817726-A-T 26671579-A-T A*
56830893-C-T A*
28804222-C-T 26658075-C-T FGC19647 +
18952224-G-C 16840344-G-C A8557 BY1476 YY+
18952225-A-T 16840345-A-T A8558 YY+
22298379-T-A 20136493-T-A BY39260 DYZ19 +
10998033-TCACTC-T +
13637404-C-A 11481728-C-A FT219821 +
2761231-G-T 2893190-G-T BY39251 YY+
3089491-T-C 3221450-T-C FT135377 +
3808959-C-T 3940918-C-T FT135722 +
3860262-T-C 3992221-T-C FT135751 +
4151861-C-A 4283820-C-A FTA47806 +
4493472-ATTTG-A 4625431-ATTTG-A +
5624284-T-C 5756243-T-C FTA48092 +
5768280-T-C 5900239-T-C FT136767 +
5934292-A-G 6066251-A-G FT136850 +
7809144-C-T 7941103-C-T BY39252 YY+
8527910-G-A 8659869-G-A BY39253 YY+
9758726-A-C 9921117-A-C FT328242 Y+
10744784-A-C FT219830 +
10857435-T-C FT219822 +
10905564-T-G FT219829 +
13556999-T-A 11401323-T-A FT219828 +
14505310-C-A 12393515-C-A FT138467 YY+
14627743-G-C 12515811-G-C BY96848 YY+
14911528-G-A 12799595-G-A BY39255 YY+
15584954-T-A 13473074-T-A FT216680 YY+
15752059-G-A 13640179-G-A BY39256 YY+
15994539-T-C 13882659-T-C BY39257 YY+
17213870-C-T 15101990-C-T FT139409 Y+
17388284-C-A 15276404-C-A FTA11853 YY+
17461587-AC-A 15349707-AC-A +
17587886-A-G 15476006-A-G FTA11936 YY+
17823333-C-A 15711453-C-A FT139637 Y+
22143454-T-G 19981568-T-G BY39259 YY+
28697630-T-C 26551483-T-C FT90730 +
28781670-A-G 26635523-A-G +
15558483-T-C 13446603-T-C BY160845 YY*
15558483-TAGATAGATAGATAGAT-T,TAGATAGATAGATAGAC 13446603-TAGATAGATAGATAGAT-T,TAGATAGATAGATAGAC *
13478065-C-T 11322389-C-T *
10753210-C-T *
5549241-T-A 5681200-T-A *
10625095-G-T *
13712845-A-T 11557169-A-T *
22316533-C-G 20154647-C-G DYZ19 *
22317084-G-A 20155198-G-A DYZ19 *
13286736-C-T 11131060-C-T **
13453408-C-CCATTG 11297732-C-CCATTG **
18299541-C-T 16187661-C-T P6_Prx **
2707975-G-GTT 2839934-G-GTT 18×T**
19477557-G-GA 17365677-G-GA 9×A**
15290954-ATT-A 13179053-ATT-A 17×T**
25934585-T-TG 23788438-T-TG P1_Y1 **
13466503-C-G 11310827-C-G **
8235523-G-C 8367482-G-C **
12371705-T-C **
13466532-A-C 11310856-A-C **
6684763-G-A 6816722-G-A **
2752465-C-T 2884424-C-T **
2752471-T-A 2884430-T-A **
4521259-A-T 4653218-A-T **
4705604-A-G 4837563-A-G FT90378 **
5695020-C-T 5826979-C-T **
6903491-G-A 7035450-G-A **
7774863-A-T 7906822-A-T **
7923539-T-TTTA 8055498-T-TTTA **
13615954-A-G 11460278-A-G FT219827 **
13715664-G-C 11559988-G-C **
14120583-A-G 11999877-A-G **
14167962-C-A 12047256-C-A **
14961252-T-C 12849327-T-C **
16055588-T-C 13943708-T-C **
16384287-A-G 14272407-A-G **
17337910-G-A 15226030-G-A **
17461584-C-CA 15349704-C-CA **
17735112-A-G 15623232-A-G **
18299531-T-C 16187651-T-C P6_Prx **
18299539-C-T 16187659-C-T P6_Prx **
18299546-A-ATGTG 16187666-A-ATGTG P6_Prx **
18690106-A-G 16578226-A-G **
18796580-C-G 16684700-C-G **
18974839-C-A 16862959-C-A **
19706404-C-A 17594524-C-A P5_Prx **
19829923-G-T 17718043-G-T P5_Prx **
20536818-C-CCAA 18374932-C-CCAA P5_Dst **
21631946-C-T 19470060-C-T **
21631960-A-G 19470074-A-G **
21968603-G-T 19806717-G-T **
22236864-T-C 20074978-T-C DYZ19 **
22973095-T-C 20811209-T-C BY142141 **
23438756-T-C 21276870-T-C **
23965373-G-A 21819226-G-A BY39261 **
24461788-C-T 22315641-C-T **
28528960-C-T 26382813-C-T FT141356 **
56882843-G-C **
13453385-G-A 11297709-G-A ***
17861960-CTT-C 15750080-CTT-C 14×T***
19163178-T-TA 17051298-T-TA 8×A***
3828580-CAT-C 3960539-CAT-C ***
15904149-C-CAAA 13792269-C-CAAA 20×A***
13478020-C-T 11322344-C-T ***
2774663-CTTT-C 2906622-CTTT-C 18×T***
21146425-ATTT-A 18984539-ATTT-A 16×T***
13453375-A-T 11297699-A-T ***
15909467-G-A 13797587-G-A ***
11009071-CTACAA-C ***
2763773-CAAA-C,CAA 2895732-CAAA-C,CAA 20×A***
14642454-GTTTT-G 12530523-GTTTT-G 17×T***
13478012-C-A 11322336-C-A ***
13466583-T-C 11310907-T-C ***
23543186-G-GT 21381300-G-GT 9×T***
13455776-G-A 11300100-G-A ***
5062473-CAAAAA-C 5194432-CAAAAA-C 21×A***
13489915-C-T 11334239-C-T ***
13844022-A-G 11723316-A-G ***
4678058-GTT-G 4810017-GTT-G 15×T***
13478081-T-A 11322405-T-A ***
7146301-CAA-C,CAAA 7278260-CAA-C,CAAA 17×A***
13478057-A-G 11322381-A-G ***
13489949-C-A 11334273-C-A ***
13488444-G-T 11332768-G-T ***
13478054-G-C 11322378-G-C ***
5260409-TC-T 5392368-TC-T ***
18255155-CA-C,CAA 16143275-CA-C,CAA 12×A***
4566487-G-GA 4698446-G-GA 9×A***
13474788-T-C 11319112-T-C ***
28802623-G-A 26656476-G-A ***
7148999-T-G 7280958-T-G ***
3755230-T-C 3887189-T-C ***
3845784-T-C 3977743-T-C ***
3967985-A-G 4099944-A-G ***
4331678-A-G 4463637-A-G ***
4419441-T-C 4551400-T-C ***
4608820-A-G 4740779-A-G ***
4778171-T-C 4910130-T-C ***
5647958-A-G 5779917-A-G ***
6622134-T-C 6754093-T-C ***
7325066-TAC-T 7457025-TAC-T ***
7646948-T-C 7778907-T-C ***
13364361-T-C 11208685-T-C ***
13441560-A-G 11285884-A-G ***
13487293-G-A 11331617-G-A ***
13505288-T-G 11349612-T-G ***
14176194-T-C 12055488-T-C ***
14488773-CAAAAA-C,CAAAA 12368042-CAAAAA-C,CAAAA 16×A***
12376222-T-C ***
16010665-T-A 13898785-T-A ***
16662721-A-C 14550841-A-C ***
17114927-A-C 15003047-A-C ***
17124525-T-C 15012645-T-C ***
18766878-C-G 16654998-C-G ***
21381387-T-C 19219501-T-C ***
22115503-G-C 19953617-G-C ***
22600127-T-G 20438241-T-G ***
22600130-C-A 20438244-C-A ***
23009899-T-G 20848013-T-G ***
23464827-C-T 21302941-C-T ***
23464839-C-T 21302953-C-T ***
27839143-C-T 25692996-C-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.