Tree Position

R-P312/S116 > DF19/S232 > DF88 > FGC11833 > Z17110 > Z27749

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
672072
22289418-T-C 20127532-T-C DYZ19 A*
28817709-G-C 26671562-G-C A*
28817522-T-C 26671375-T-C A*
28816510-A-T 26670363-A-T A*
6262548-G-A 6394507-G-A IR3_Dst A*
22237511-C-A 20075625-C-A DYZ19 A*
22306127-G-T 20144241-G-T DYZ19 A*
22307857-G-C 20145971-G-C DYZ19 A*
24334294-T-C 22188147-T-C P3_t1 A*
25913632-G-A 23767485-G-A P1_Y1 A*
3865704-A-G 3997663-A-G BY157315 +
4841641-G-C 4973600-G-C BY157318 +
7103884-C-A 7235843-C-A BY157386 YY+
7684481-T-A 7816440-T-A BY157446 YY+
8803791-T-A 8935750-T-A BY157606 YY+
8803808-A-T 8935767-A-T BY157607 YY+
8867092-G-T 8999051-G-T FGC29958 Y+
8905490-A-C 9037449-A-C +
9835132-A-G 9997523-A-G FGC29959 YY+
14722426-T-C 12610494-T-C FGC29960 YY+
15046490-T-G 12934580-T-G FGC29961 YY+
15125093-T-A 13013180-T-A BY157816 YY+
15996417-G-A 13884537-G-A BY157889 YY+
16131618-G-A 14019738-G-A FGC29963 P8_Spc +
16202765-A-C 14090885-A-C FGC29964 YY+
17264493-C-T 15152613-C-T FGC29967 YY+
17495024-C-T 15383144-C-T FGC29968 YY+
21236766-A-G 19074880-A-G YY+
22271219-G-T 20109333-G-T FGC29973 DYZ19 +
22288736-G-A 20126850-G-A BY216267 DYZ19 +
22465610-G-A 20303724-G-A BY158457 DYZ19 +
22472770-C-A 20310884-C-A BY43957 DYZ19 +
22472770-CT-C 20310884-CT-C DYZ19 +
22796444-A-G 20634558-A-G BY140834 YY+
28784978-G-A 26638831-G-A FGC29975 +
23297-C-A +
22432855-T-C 20270969-T-C DYZ19 *
22430231-G-T 20268345-G-T DYZ19 *
13706710-C-A 11551034-C-A DYZ17 *
22279382-C-T 20117496-C-T DYZ19 *
22317265-C-T 20155379-C-T DYZ19 *
13809631-A-G 11688925-A-G DYZ17 **
22365871-G-T 20203985-G-T DYZ19 **
5743710-T-C 5875669-T-C **
28234398-T-TTATATA 26088251-T-TTATATA P1_b4 18×TA**
7532276-GTATATATATATATATATATATATATATATA-G 7664235-GTATATATATATATATATATATATATATATA-G 28×TA**
14184384-C-A 12063678-C-A **
11037193-C-T **
23111275-G-T 20949389-G-T **
19251442-C-A 17139562-C-A **
23522395-C-A 21360509-C-A **
7256228-G-T 7388187-G-T **
21996190-T-G 19834304-T-G **
10805488-C-A **
10772260-A-C **
10691052-CCAT-C **
10818309-A-T **
10818334-C-G **
14639191-C-A 12527260-C-A **
21677961-T-A 19516075-T-A **
10691027-C-A **
10691035-T-C **
10691047-C-A **
10691048-CAT-C **
11021555-TC-T **
10664707-T-C **
18329043-C-CTTTT 16217163-C-CTTTT P6_Prx 17×T**
19304658-C-A 17192778-C-A **
10826886-T-C **
10926692-C-CGTGTTGATTAA **
10926693-CA-C **
10926716-T-C **
10958546-C-A **
10764928-C-T **
19834221-G-A 17722341-G-A P5_Prx **
10050795-C-A 10213186-C-A **
17083084-C-A 14971204-C-A **
8379560-A-C 8511519-A-C **
10664699-T-TC **
3800142-C-A 3932101-C-A **
28577670-AT-A 26431523-AT-A 9×T**
10663210-G-A **
20311627-A-G 18149741-A-G P5_Dst **
10664694-C-CAATT **
10987559-C-A **
3754559-G-T 3886518-G-T **
7862030-G-T 7993989-G-T **
6375732-T-TA 6507691-T-TA 8×A**
24052542-G-T 21906395-G-T P3_b1 **
2708294-C-A 2840253-C-A **
2744699-G-C 2876658-G-C **
2932998-G-A 3064957-G-A **
3722678-A-G 3854637-A-G **
3730800-A-G 3862759-A-G **
4094082-A-T 4226041-A-T **
4295201-G-T 4427160-G-T **
4561881-AG-A 4693840-AG-A **
5011460-C-T 5143419-C-T **
5241035-C-A 5372994-C-A **
5666183-T-C 5798142-T-C **
5777517-C-A 5909476-C-A **
6045105-C-A 6177064-C-A **
6367455-A-G 6499414-A-G **
7150825-G-A 7282784-G-A FT206770 **
7724043-G-T 7856002-G-T **
8016932-T-TC 8148891-T-TC **
8172814-A-G 8304773-A-G **
9957000-AGAAC-A 10119391-AGAAC-A **
10661397-C-G **
10689809-C-T **
10791897-T-A **
10816337-C-T **
10833374-C-T FGC82649 **
10856138-C-CAT **
10863425-G-A **
10946876-C-A **
13523579-T-C 11367903-T-C **
13719314-C-G 11563638-C-G DYZ17 **
13719374-C-A 11563698-C-A DYZ17 **
11651441-A-G DYZ17 **
11664038-C-A DYZ17 **
13891628-G-T 11770922-G-T **
14065706-T-A 11945000-T-A **
14100897-G-A 11980191-G-A **
14160316-T-G 12039610-T-G **
14293771-T-A 12173065-T-A **
14302104-G-A 12181398-G-A **
14428116-G-C 12307391-G-C **
12375701-C-A **
14581130-C-A 12469330-C-A **
14689744-CTCTATA-C 12577810-CTCTATA-C **
14880334-G-T 12768404-G-T **
15061675-A-T 12949767-A-T **
15178915-C-A 13067001-C-A **
15431656-A-T 13319776-A-T **
15565954-A-T 13454074-A-T **
15773827-G-T 13661947-G-T **
15986664-T-C 13874784-T-C **
16049012-T-A 13937132-T-A **
16729281-C-A 14617401-C-A **
17083069-A-C 14971189-A-C **
17083075-T-C 14971195-T-C **
17538372-G-C 15426492-G-C **
17723327-C-A 15611447-C-A **
18202023-C-A 16090143-C-A **
18499940-A-C 16388060-A-C P6_Dst **
20079643-T-G 17967763-T-G P5_Dst 8×A**
20255089-ATC-A 18093203-ATC-A P5_Dst **
20440393-TTGTTGTTG-T 18278507-TTGTTGTTG-T P5_Dst **
20570267-A-G 18408381-A-G P5_Dst **
20789782-ACATGT-A 18627896-ACATGT-A P4_Prx **
21262839-C-T 19100953-C-T **
21791349-C-A 19629463-C-A **
21961533-T-C 19799647-T-C **
22097037-C-A 19935151-C-A **
22188930-T-C 20027044-T-C **
22365901-G-A 20204015-G-A DYZ19 **
22365923-C-T 20204037-C-T DYZ19 **
22530825-C-A 20368939-C-A **
23126718-C-A 20964832-C-A **
23311356-C-A 21149470-C-A **
23337767-T-C 21175881-T-C **
24404442-C-A 22258295-C-A **
26203874-TCAATCA-T 24057727-TCAATCA-T P1_Y1 **
26203884-ATT-A 24057737-ATT-A P1_Y1 **
27424014-C-A 25277867-C-A P1_g3 **
28468819-T-G 26322672-T-G **
28798554-G-A 26652407-G-A **
28801810-A-G 26655663-A-G **
56850402-T-G **
28031652-C-CTGAA 25885505-C-CTGAA P1_Y2 5×TGAA***
21827606-CAAAAAAA-C 19665720-CAAAAAAA-C 21×A***
10971972-C-T ***
11668793-C-A DYZ17 ***
15991806-GTTTTTT-G 13879926-GTTTTTT-G 24×T***
14819674-CTTT-C,CTT 12707741-CTTT-C,CTT 15×T***
10796682-CA-C ***
10940365-C-CCTGTT ***
15161128-C-A 13049214-C-A ***
6734680-CTTTT-C,CTT 6866639-CTTTT-C,CTT 21×T***
10779194-C-A ***
10935595-TCCA-T ***
2960173-A-G 3092132-A-G ***
3131249-AT-A 3263208-AT-A ***
9398041-GAA-G,GA 9560432-GAA-G,GA 15×A***
10655824-T-A,C ***
10800838-TC-T ***
13477773-C-A 11322097-C-A ***
14366621-CCACT-C 12245916-CCACT-C ***
15394926-TTGGAAC-T 13283046-TTGGAAC-T ***
18636612-CTTTTT-C,CTTT 16524732-CTTTTT-C,CTTT 17×T***
22164547-CAAAAAA-C,CAAAA 20002661-CAAAAAA-C,CAAAA 19×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.