Labelle

BigY3: IN59820

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 STRBigY3
IN59820
22218275-T-G 20056389-T-G DYZ19 A+
24604719-C-G 22458572-C-G P3_t2 A+
20217960-T-TA 18056074-T-TA P5_Dst 13×AA*
5636740-C-G 5768699-C-G A*
6040154-T-C 6172113-T-C A*
6109897-C-T 6241856-C-T A*
6195129-C-T 6327088-C-T IR3_Dst A*
13448121-A-G 11292445-A-G A*
13844047-A-G 11723341-A-G A*
19704594-C-T 17592714-C-T P5_Prx A*
19790618-T-C 17678738-T-C P5_Prx A*
20740426-A-G 18578540-A-G P4_Prx A*
24348624-G-A 22202477-G-A P3_t1 A*
25598823-C-T 23452676-C-T P1_gr1 A*
25859215-A-C 23713068-A-C P1_Y1 A*
26126288-T-C 23980141-T-C P1_Y1 A*
26465445-A-G 24319298-A-G P1_Y1 A*
28817177-A-C 26671030-A-C A*
16940903-A-C 14829023-A-C CTS6498 YY+
28470598-C-A 26324451-C-A FT35979 +
23981780-G-A 21835633-G-A PF3247 Y+
16741571-G-A 14629691-G-A BY109715 YY+
19264337-C-T 17152457-C-T BY127772 YY+
18986577-G-A 16874697-G-A FT54468 YY+
3964704-G-A 4096663-G-A FT52108 +
4347013-A-G 4478972-A-G FT52215 +
5753961-G-A 5885920-G-A FT52635 +
6023444-C-T 6155403-C-T FT52707 +
6754372-G-A 6886331-G-A YY+
6935591-G-A 7067550-G-A FT52880 YY+
7908909-C-A 8040868-C-A FT53081 YY+
8069251-CGAG-C 8201210-CGAG-C +
10845966-C-T FT433852 +
10999489-C-T FT439838 +
13672024-G-A 11516348-G-A FT447867 +
14106810-C-T 11986104-C-T FT53491 YY+
14655495-G-A 12543560-G-A FT53638 YY+
16020113-A-T 13908233-A-T FT53896 YY+
16020827-G-C 13908947-G-C FT53898 YY+
16250710-T-A 14138830-T-A FT53936 YY+
16460508-C-A 14348628-C-A FT53979 YY+
16523610-T-C 14411730-T-C FT53986 YY+
16613246-T-C 14501366-T-C FT54008 YY+
16725653-C-G 14613773-C-G FT54040 Y+
16899116-C-G 14787236-C-G FT54064 YY+
17313476-C-T 15201596-C-T FT54136 YY+
17378382-C-A 15266502-C-A FT54153 Y+
17469471-G-A 15357591-G-A FT54177 YY+
18208461-T-C 16096581-T-C FT54359 YY+
18584236-T-C 16472356-T-C FT54398 YY+
18600591-G-A 16488711-G-A FT54402 YY+
21183625-A-C 19021739-A-C FT54633 YY+
21195015-G-T 19033129-G-T FT54636 YY+
21281918-G-T 19120032-G-T FT54662 YY+
21553070-C-T 19391184-C-T FT54733 Y+
22563169-T-C 20401283-T-C FT54900 YY+
22598529-CTT-C 20436643-CTT-C +
22792599-A-G 20630713-A-G FT54943 YY+
23023679-C-T 20861793-C-T FT54982 YY+
23024384-G-C 20862498-G-C FT54983 YY+
23270532-G-A 21108646-G-A FT55023 YY+
23323504-C-G 21161618-C-G FT55028 YY+
23328766-G-A 21166880-G-A FT55033 YY+
23403046-C-A 21241160-C-A FT55049 YY+
23630248-A-G 21468362-A-G FT55094 YY+
19014-T-C +
22300383-T-G 20138497-T-G BY184391 DYZ19 *
13816627-GGGAATGGAAT-G 11695921-GGGAATGGAAT-G 8×GGAAT*
13937638-AC-A 11816932-AC-A *
13937646-A-G 11816940-A-G YY*
13937649-A-C 11816943-A-C YY*
13937819-T-C 11817113-T-C BY91971 YY*
22300378-G-T 20138492-G-T DYZ19 *
13923177-C-A 11802471-C-A **
5491261-C-CA 5623220-C-CA 18×A**
21766566-A-G 19604680-A-G **
22440221-T-C 20278335-T-C BY51712 DYZ19 **
26199615-GT-G 24053468-GT-G P1_Y1 **
4555582-T-C 4687541-T-C **
5142539-A-G 5274498-A-G FTA52626 **
7499970-T-C 7631929-T-C FTA52624 IR1_L **
9678662-A-G 9841053-A-G IR3_Prx **
13239679-T-C 11084003-T-C **
13317485-A-G 11161809-A-G **
13459567-T-C 11303891-T-C **
14682846-C-T 12570912-C-T FTA52625 **
14990564-A-T 12878649-A-T **
15140898-T-A 13028985-T-A FTA52627 **
15396709-AT-A 13284829-AT-A **
15645561-T-A 13533681-T-A **
16684796-T-C 14572916-T-C **
18875066-G-A 16763186-G-A **
22027757-G-A 19865871-G-A **
22429204-C-A 20267318-C-A DYZ19 **
22440226-G-C 20278340-G-C DYZ19 **
26199631-G-C 24053484-G-C P1_Y1 **
26424314-C-A 24278167-C-A P1_Y1 23×A**
17446767-C-CT 15334887-C-CT 33×T***
5636687-C-T 5768646-C-T ***
18612757-GTGTA-G 16500877-GTGTA-G ***
14835133-A-T 12723200-A-T F4176 ***
13478033-G-T 11322357-G-T ***
21932130-AT-A 19770244-AT-A 9×T***
6928381-CT-C 7060340-CT-C 10×T***
2686629-AT-A 2818588-AT-A 10×T***
9063859-CTTT-C,CTT 9226250-CTTT-C,CTT 16×T***
13485623-T-A 11329947-T-A ***
4934027-G-GT 5065986-G-GT 10×T***
16478359-CAA-C,CA 14366479-CAA-C,CA 18×A***
8660550-CAAAA-C 8792509-CAAAA-C 18×A***
21435190-CT-C,CTT 19273304-CT-C,CTT 15×T***
14570756-ATT-A,ATTT 12458956-ATT-A,ATTT 22×T***
10625095-G-T ***
13476631-G-T 11320955-G-T ***
17385421-CAA-C,CA 15273541-CAA-C,CA 15×A***
13470699-C-G 11315023-C-G ***
3812718-CAA-C,CA 3944677-CAA-C,CA 17×A***
5812307-A-G 5944266-A-G ***
5885123-TAA-T,TA 6017082-TAA-T,TA 17×A***
6776497-CAAAAAAAAA-C 6908456-CAAAAAAAAA-C 28×A***
7217395-A-G 7349354-A-G ***
7461754-GT-G,GTT 7593713-GT-G,GTT IR1_L 23×T***
13361413-A-G 11205737-A-G ***
13494945-C-G 11339269-C-G ***
13616504-T-C 11460828-T-C ***
13919160-G-A 11798454-G-A ***
16063231-T-C 13951351-T-C ***
16063232-C-T 13951352-C-T ***
16305924-CAAA-C,CAA 14194044-CAAA-C,CAA 24×A***
17270518-T-C 15158638-T-C ***
17642906-T-A 15531026-T-A ***
19187385-ATTTTTTT-A,ATTTTTT 17075505-ATTTTTTT-A,ATTTTTT 28×T***
21141064-G-A 18979178-G-A ***
21141069-G-T 18979183-G-T ***
21141073-T-C 18979187-T-C ***
21756916-T-C 19595030-T-C ***
22300397-T-C 20138511-T-C BY216863 DYZ19 ***
22877176-A-G 20715290-A-G ***

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.