1k Genomes

1kG: HG01536
MDKA Birth: Spain

Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > Z49 > Z142/S211 > Z51 > Z50 > Z57 > Exact position not yet finalized.

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 STR1kG
HG01536		Manual
Edits
17683950-C-T 15572070-C-T CTS7817 M4248 Y+
14609822-AT-A +
22273145-A-C 20111259-A-C BY51669 DYZ19 +
8703020-T-TAC 8834979-T-TAC 11×AC+
16242618-C-T 14130738-C-T YY+
16242620-G-T 14130740-G-T YY+
13258662-G-T 11102986-G-T +
7925845-G-T 8057804-G-T S10848 YY+
21502782-C-T 19340896-C-T FT31228 Y16×T+
22929693-G-A 20767807-G-A A15888 YY14×A+
2702974-A-AGTTTTTTTTTTTT 2834933-A-AGTTTTTTTTTTTT +
14379586-G-C 12258882-G-C YY+
6728875-C-G 6860834-C-G FT299977 Y+
6887586-T-A 7019545-T-A YY+
7831537-C-T 7963496-C-T FT300255 YY+
8087765-C-T 8219724-C-T YY+
8300478-G-A 8432437-G-A FT300392 YY+
8700889-G-T 8832848-G-T FT300516 YY+
14104220-T-C 11983514-T-C FT300801 YY+
14129740-G-T 12009034-G-T FT300810 Y+
14255826-G-A 12135120-G-A FT300856 Y+
14503935-C-T 12392140-C-T FT300956 YY+
14515358-T-A 12403559-T-A YY+
15502060-T-C 13390180-T-C FT301178 YY+
16357070-A-C 14245190-A-C FT301375 YY+
16525989-A-G 14414109-A-G FT301416 YY+
16577596-T-C 14465716-T-C FT301423 YY+
16675214-T-C 14563334-T-C FT301450 Y+
16774271-T-G 14662391-T-G FT301477 YY+
17186823-T-G 15074943-T-G FT301575 YY+
17254265-G-A 15142385-G-A FT301590 YY+
17582209-G-A 15470329-G-A FT301672 YY+
17939714-G-C 15827834-G-C FT301780 YY+
18062029-T-G 15950149-T-G YY+
18135207-C-T 16023327-C-T FT301841 Y+
18653493-G-A 16541613-G-A FT301932 YY+
18715721-G-T 16603841-G-T FT301948 YY+
18791063-T-G 16679183-T-G FT301973 Y+
19205759-C-A 17093879-C-A FT302095 YY+
21301907-C-T 19140021-C-T FT68781 YY+
21445379-T-C 19283493-T-C FT302369 YY+
22594751-C-T 20432865-C-T Z11188 YY+
23272837-G-A 21110951-G-A BY144273 YY+
23275531-A-G 21113645-A-G FT302853 YY+
23478847-C-A 21316961-C-A FT302907 YY+
23539651-C-G 21377765-C-G FT302924 YY+
23590370-A-T 21428484-A-T FT302943 YY+
23753976-G-C 21592090-G-C FT284955 Y+
23981841-G-T 21835694-G-T FT303018 Y+
28488099-C-T 26341952-C-T +
4118702-T-A 4250661-T-A +
13634695-T-C 11479019-T-C +
13738359-C-T 11582683-C-T +
16059314-C-A 13947434-C-A Y+
3162937-T-C 3294896-T-C FT316279 +
3166725-G-A 3298684-G-A +
3764216-C-A 3896175-C-A FT318398 +
3826313-T-A 3958272-T-A +
3878643-G-GA 4010602-G-GA +
4276652-T-G 4408611-T-G FT320112 +
4381160-T-G 4513119-T-G Y21410FGC34853 6×TTG+
4477769-C-G 4609728-C-G +
4555311-T-C 4687270-T-C FT321016 +
4555316-T-G 4687275-T-G +
5022667-G-GGT 5154626-G-GGT 12×GT+
5081983-A-C 5213942-A-C +
5429035-A-C 5560994-A-C +
5701995-T-C 5833954-T-C +
5716172-C-T 5848131-C-T FT324857 +
6024566-GTA-G 6156525-GTA-G +
6024570-GCA-G 6156529-GCA-G +
6604083-TC-T 6736042-TC-T +
6756952-T-A 6888911-T-A YY9×A+
7336737-AG-A 7468696-AG-A +
7717676-CT-C 7849635-CT-C +
7774636-T-G 7906595-T-G Y+
9830994-C-CG 9993385-C-CG +
13140128-C-A 10629614-C-A +
13222611-G-A 11066935-G-A +
13222619-G-A 11066943-G-A +
13256126-G-GT 11100450-G-GT +
13399056-C-T 11243380-C-T +
13399062-A-T 11243386-A-T +
13399077-A-C 11243401-A-C +
13414092-G-C 11258416-G-C +
13448891-C-CTCCAG 11293215-C-CTCCAG +
13449759-CATTCTATTCCATTCT-C 11294083-CATTCTATTCCATTCT-C +
13486692-T-A 11331016-T-A +
13570023-A-G 11414347-A-G +
13571234-A-T 11415558-A-T +
13571292-T-G 11415616-T-G +
13579470-T-G 11423794-T-G +
13680834-C-A 11525158-C-A +
13700857-T-C 11545181-T-C A3816 +
14609799-C-CAAA 12498001-C-CAAA 23×A+
14910819-TG-T 12798886-TG-T +
15077503-T-G 12965593-T-G YY+
15255767-TGG-T 13143853-TGG-T +
15278766-A-T 13166855-A-T YY+
15321501-T-C 13209619-T-C FT301132 YY+
15411308-C-CAAA 13299428-C-CAAA 30×A+
15557122-ATAAT-A 13445242-ATAAT-A +
15557123-TAATATA-T 13445243-TAATATA-T +
15557157-ATATATT-A 13445277-ATATATT-A +
15768382-A-G 13656502-A-G YY+
16242608-A-G 14130728-A-G YY+
16292543-A-T 14180663-A-T YY+
16662393-T-G 14550513-T-G YY+
16729172-G-GTTTT 14617292-G-GTTTT 22×T+
17527350-ATATG-A 15415470-ATATG-A +
17527352-ATG-A 15415472-ATG-A +
17683951-C-G 15572071-C-G CTS7818 M4085 Y+
18239758-A-C 16127878-A-C Y+
18256603-CTG-C 16144723-CTG-C +
18398216-TATATATAC-T 16286336-TATATATAC-T P6_Gap +
19125718-A-AAT 17013838-A-AAT +
19387013-TATTA-T 17275133-TATTA-T +
20810715-C-T 18648829-C-T P4_Gap +
20821565-A-C 18659679-A-C FT302213 P4_Gap +
21276515-T-G 19114629-T-G Y+
21318504-T-A 19156618-T-A S22887 YY+
21715226-T-G 19553340-T-G FT302452 YY+
21906892-A-G 19745006-A-G YY+
22237477-T-G 20075591-T-G DYZ19 +
22262663-CA-C 20100777-CA-C DYZ19 +
22270303-T-G 20108417-T-G DYZ19 +
22437421-T-C 20275535-T-C DYZ19 +
22447775-T-C 20285889-T-C DYZ19 +
22461943-C-A 20300057-C-A BY33339BY220787 DYZ19 +
22473693-G-A 20311807-G-A DYZ19 +
22484419-G-T 20322533-G-T FT460446 DYZ19 +
22540565-TATATATAC-T 20378679-TATATATAC-T +
23640751-G-T 21478865-G-T Y+
23753974-CTG-C 21592088-CTG-C +
23792022-A-C 21630136-A-C Y+
24387126-CTA-C 22240979-CTA-C +
24388462-A-T 22242315-A-T +
24417012-AAG-A 22270865-AAG-A +
24886464-C-A 22740317-C-A PF4400 g1 13×A+
25250655-C-G 23104508-C-G P2_r1 +
27861667-T-G 25715520-T-G P1_Y2 +
58836233-G-T 56754638-C-A +
59025466-G-GAA 56879319-G-GAA +

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual21527519-T-TA19365633-T-TA3 positive reads, 1 negative.