Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > ZZ10 > Z253 > Z2534 > ZZ5 > Z2185 > BY44331 > Z2186 > L1066

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
13692057-G-C 11536381-G-C A*
6113748-G-C 6245707-G-C A*
18345377-G-T 16233497-G-T P6_Prx A*
19649035-G-C 17537155-G-C P5_Prx A*
22265464-A-G 20103578-A-G DYZ19 A*
25974915-G-A 23828768-G-A P1_Y1 A*
26047052-G-A 23900905-G-A P1_Y1 A*
26229031-A-G 24082884-A-G P1_Y1 A*
18083168-G-A 15971288-G-A FT148754Z28765 YY+
14834318-T-C 12722385-T-C F19293 YY+
15568486-C-T 13456606-C-T BY102589 YY+
8439074-C-T 8571033-C-T BY169013BY72766 YY+
8398772-C-T 8530731-C-T BY72333 YY+
6753633-T-A 6885592-T-A BY61097 YY+
6870039-A-C 7001998-A-C BY61866 YY+
6931122-T-G 7063081-T-G BY62254 YY+
7272589-A-T 7404548-A-T BY64303 YY+
7519651-C-A 7651610-C-A BY65590 YY+
7547253-C-A 7679212-C-A YY+
7914808-G-A 8046767-G-A BY68730 YY+
8204033-T-C 8335992-T-C YY+
8455228-G-A 8587187-G-A BY72925 YY+
9122106-G-A 9284497-G-A BY78299 Y+
9805653-T-G 9968044-T-G BY81098 YY+
9855343-T-C 10017734-T-C YY+
13224264-C-T 11068588-C-T BY84632 +
13653186-G-A 11497510-G-A BY87142 +
14995482-A-T 12883567-A-T BY98967 YY+
15359971-C-T 13248091-C-T BY101110 YY+
15526053-A-G 13414173-A-G BY102248 YY+
15966012-T-C 13854132-T-C BY105176 YY+
16764573-G-C 14652693-G-C BY109930 YY+
16793911-A-G 14682031-A-G BY110178 YY+
16854073-A-G 14742193-A-G BY110602 YY+
16854582-T-G 14742702-T-G BY110606 YY+
17613412-G-T 15501532-G-T BY116176 YY+
17792883-T-C 15681003-T-C BY117430 YY+
18077415-A-G 15965535-A-G BY119766 YY+
18095903-C-T 15984023-C-T BY14457 YY+
18414868-C-T 16302988-C-T BY121808 P6_Gap +
19050405-A-G 16938525-A-G BY125806 YY+
19060514-T-C 16948634-T-C BY125924 YY+
19117697-C-T 17005817-C-T BY126426 YY+
21689173-T-A 19527287-T-A BY134747 YY+
21811076-G-A 19649190-G-A BY135600 YY+
22228354-A-G 20066468-A-G BY213172 DYZ19 +
22467735-G-T 20305849-G-T BY221965 DYZ19 +
22476472-C-A 20314586-C-A BY223590 DYZ19 +
22509965-T-C 20348079-T-C BY186018 DYZ19 +
23394789-G-A 21232903-G-A BY145017 YY+
23435189-T-TG 21273303-T-TG +
28759102-C-T 26612955-C-T BY151041 Y+
28803036-T-C 26656889-T-C BY151667 +
17567-C-T +
22288538-C-T 20126652-C-T DYZ19 *
13461108-A-T 11305432-A-T **
11657191-AGGAAT-A **
20215964-AC-A 18054078-AC-A P5_Dst **
10909781-C-G **
10909782-G-A **
10909789-C-A **
10909790-A-T **
10658575-T-C **
11665837-A-C **
26199683-C-A 24053536-C-A P1_Y1 **
14608201-A-G 12496403-A-G **
8386124-T-G 8518083-T-G **
10658524-A-T **
10984938-C-A **
11013393-C-CTA **
11643742-T-A **
10756598-A-T **
7084562-C-A 7216521-C-A **
11643728-G-A **
10812216-C-A **
21566047-G-T 19404161-G-T **
10756636-C-T **
10749077-C-A **
7578864-C-A 7710823-C-A FT179040 **
10938340-CCCATT-C **
7200820-ATTT-A 7332779-ATTT-A 15×T**
16272233-C-A 14160353-C-A **
11643721-AT-A **
10997997-C-A **
10816141-C-G **
23291138-C-A 21129252-C-A **
5283471-C-A 5415430-C-A **
19299518-G-T 17187638-G-T **
11643726-T-TACAGAA **
10859317-C-T **
4334445-C-A 4466404-C-A **
5064305-C-A 5196264-C-A **
5918721-G-T 6050680-G-T **
6068798-A-G 6200757-A-G **
7583457-G-T 7715416-G-T **
8658595-T-C 8790554-T-C **
9126692-T-C **
9396437-A-T 9558828-A-T FT179641 **
10892781-A-T **
10892824-C-T **
10910808-C-A **
14384534-TG-T 12263830-TG-T **
16006011-T-C 13894131-T-C **
16275949-A-T 14164069-A-T **
16318448-C-A 14206568-C-A **
17206572-TG-T 15094692-TG-T **
19013710-G-T 16901830-G-T **
21109918-G-T 18948032-G-T **
21614838-G-A 19452952-G-A **
23038166-C-A 20876280-C-A **
23439131-C-T 21277245-C-T **
23881841-G-C 21719955-G-C **
27791795-T-C 25645648-T-C P1_Y2 **
56678058-G-T **
13468520-T-A 11312844-T-A ***
24355605-C-CAT 22209458-C-CAT BY18730 ***
13446999-T-G 11291323-T-G ***
13642607-T-C 11486931-T-C ***
19486859-CT-C,CTT 17374979-CT-C,CTT 16×T***
10657277-T-C ***
10808595-C-T ***
8468065-CAAA-C,CA 8600024-CAAA-C,CA 24×A***
14529234-CAA-C,CA 12417435-CAA-C,CA 15×A***
5829129-C-A 5961088-C-A ***
7014664-C-A 7146623-C-A ***
21104437-TA-T,TAA 18942551-TA-T,TAA 22×A***
10694062-C-A ***
10694064-C-T ***
10694068-A-T ***
19529116-C-T 17417236-C-T 14×T***
10694078-T-G ***
10694088-TCCATG-T ***
13483286-A-C 11327610-A-C ***
13856652-C-A 11735946-C-A ***
19517433-C-A 17405553-C-A ***
9941616-C-A 10104007-C-A ***
17960966-CTT-C,CTTT 15849086-CTT-C,CTTT 18×T***
10824114-C-A ***
13642602-A-T 11486926-A-T ***
7608436-CCTCT-C,CCT 7740395-CCTCT-C,CCT 15×CT***
13217606-G-GA 11061930-G-GA 8×A***
27808453-CT-C,CTT 25662306-CT-C,CTT P1_Y2 15×T***
15954162-C-A 13842282-C-A ***
8649759-C-A 8781718-C-A ***
9211537-C-A 9373928-C-A ***
9461784-G-T 9624175-G-T ***
13430062-G-T 11274386-G-T ***
13642600-T-A 11486924-T-A ***
17321943-AAC-A 15210063-AAC-A ***
18841156-C-T 16729276-C-T ***
23306153-C-A 21144267-C-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.