Andrews

BigY3: B318483
MDKA Birth: England

Tree Position

R-U106/S21 > Z2265 > Z18 > Z372/S375 > 22107634CGTGT-C > ZP91

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
B318483
24275264-G-A 22129117-G-A Y2278_1 Z18495 P3_b1 A*
19941525-C-G 17829645-C-G P5_Prx A*
20619550-A-G 18457664-A-G P4_Prx A*
20651171-G-C 18489285-G-C P4_Prx A*
20708517-A-C 18546631-A-C P4_Prx A*
24254879-T-A 22108732-T-A P3_b1 A*
24266792-C-T 22120645-C-T P3_b1 A*
24623821-A-T 22477674-A-T P3_t2 A*
15951998-G-A 13840118-G-A Z12456 YY+
7028490-C-A 7160449-C-A FT153075 Y+
14081054-G-A 11960348-G-A YY+
4193122-T-G 4325081-T-G FT152336 +
4760143-G-C 4892102-G-C FT152502 +
5013533-T-A 5145492-T-A FT152566 +
5935967-T-C 6067926-T-C FT152850 +
6704033-A-C 6835992-A-C FT153014 YY+
7272231-T-G 7404190-T-G FT153129 YY+
7598420-T-G 7730379-T-G FT153182 YY+
7749680-C-G 7881639-C-G FT153209 YY+
7921017-A-G 8052976-A-G FT153251 YY+
8393528-C-T 8525487-C-T YY+
9049124-C-T 9211515-C-T FT153492 Y+
13454760-T-C 11299084-T-C FT443797 +
13879107-G-A 11758401-G-A FT153618 Y+
14903923-C-T 12791990-C-T FT153846 YY+
14915907-C-T 12803974-C-T FT153851 YY+
15785617-A-T 13673737-A-T FT154023 YY+
15899526-G-A 13787646-G-A FT154038 YY+
16008288-C-G 13896408-C-G FT154058 Y+
16456465-C-G 14344585-C-G FT154133 YY+
16789019-A-G 14677139-A-G FT154206 YY+
17282604-T-G 15170724-T-G FT154304 YY+
18390546-C-T 16278666-C-T FT154577 P6_Gap +
19131553-G-A 17019673-G-A FT154753 YY+
19249685-C-T 17137805-C-T Y+
19456968-G-A 17345088-G-A FT154839 YY+
19492521-C-T 17380641-C-T FT154854 Y+
21116426-A-G 18954540-A-G FT154888 YY+
21229063-C-G 19067177-C-G FT154916 YY+
21231881-C-T 19069995-C-T FT154917 YY+
21233231-G-T 19071345-G-T FT154919 YY+
21906648-T-G 19744762-T-G FT155082 YY+
22907905-T-A 20746019-T-A FT155237 YY+
23522463-T-G 21360577-T-G FT155348 YY+
23544856-T-G 21382970-T-G FT155354 YY+
28472937-C-T 26326790-C-T FT155445 +
28504900-C-T 26358753-C-T BY150619 Y+
18141-T-C +
21451442-G-GTA 19289556-G-GTA 8×TA*
56839850-C-A *
7730475-C-CATAG 7862434-C-CATAG *
5278078-T-TTGTG 5410037-T-TTGTG 14×TG*
3411996-TTGTGTGTGTGTGTGTG-T 3543955-TTGTGTGTGTGTGTGTG-T 23×TG*
6293351-T-C 6425310-T-C IR3_Dst *
15307465-TTTCC-T 13195567-TTTCC-T 5×TTCC**
5815373-T-C 5947332-T-C Z22866 **
24388279-CTA-C 22242132-CTA-C **
16688264-C-T 14576384-C-T FT89422 **
13467699-C-T 11312023-C-T BY85779 **
10848046-GCATTC-G **
6720540-G-A 6852499-G-A FT215318 **
3290822-T-C 3422781-T-C **
4571041-A-G 4703000-A-G **
5883875-C-T 6015834-C-T **
10074734-T-G 10237125-T-G **
10473901-A-G **
10473923-CT-C **
13457868-T-A 11302192-T-A **
13981556-G-C 11860850-G-C **
14376675-C-G 12255971-C-G **
16994583-A-G 14882703-A-G **
18054872-T-A 15942992-T-A **
18153754-C-T 16041874-C-T FT337941 **
18848952-T-A 16737072-T-A **
22194830-A-T 20032944-A-T **
22436727-C-T 20274841-C-T DYZ19 **
22487658-A-G 20325772-A-G BY225014 DYZ19 **
22882845-T-C 20720959-T-C **
27272977-T-C 25126830-T-C P1_g3 **
28751950-A-G 26605803-A-G **
2888808-T-C 3020767-T-C CTS313 Z2681 ***
20842517-GGAAAGAAA-G,GGAAAGAAAGAAA 18680631-GGAAAGAAA-G,GGAAAGAAAGAAA P4_Dst 14×GAAA***
16783412-T-A 14671532-T-A 13×A***
17082977-CCTTTCTTT-C,CCTTT 14971097-CCTTTCTTT-C,CCTTT 15×CTTT***
22508526-C-T 20346640-C-T DYZ19 ***
13931739-C-CTT 11811033-C-CTT 22×T***
22871996-CAAA-C 20710110-CAAA-C 15×A***
18688500-C-CA,CAA 16576620-C-CA,CAA 20×A***
8016938-CTTT-C,CT 8148897-CTTT-C,CT 25×T***
8273711-T-C 8405670-T-C ***
13222409-AAGGGAGGCACTGAG-A,AAGGGAGGGAAGGAG 11066733-AAGGGAGGCACTGAG-A,AAGGGAGGGAAGGAG ***
14698477-AC-AA,C 12586543-AC-AA,C ***
16217957-T-C 14106077-T-C ***
17821825-GAAAA-G,GAAAAAAAA 15709945-GAAAA-G,GAAAAAAAA 17×A***
19505340-A-G 17393460-A-G ***
21042791-A-G 18880905-A-G ***
22281713-G-C 20119827-G-C DYZ19 ***
28796379-G-C 26650232-G-C ***

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.