1k Genomes

1kG: HG01392
MDKA Birth: Puerto Rico

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z272 > BY907 > S1322 > FGC14113 > 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
HG01392
13268904-T-C 11113228-T-C +
58890989-CCCACTCCATTCCATT-C 56699863-ATGGAATGGAATGGAG-A +
15477748-T-A 13365868-T-A L199 BY30489 Y139341L199 PF5371 L443 L675 YY+
27056034-T-C 24909887-T-C P1_r4 +
13877960-T-A 11757254-T-A A13700 Y+
59033984-G-A 56887837-G-A +
59033991-T-C 56887844-T-C +
18125754-AAGAAG-A 16013874-AAGAAG-A +
6905780-G-A 7037739-G-A K99 YY+
7366117-C-T 7498076-C-T FT223779 YY+
7928346-G-T 8060305-G-T FT223851 YY+
8238439-A-T 8370398-A-T FT223887 YY+
8428053-G-A 8560012-G-A FT223918 YY+
14000346-G-A 11879640-G-A Y138172 Y+
14131177-G-T 12010471-G-T Y+
14671063-G-T 12559129-G-T FT224208 Y+
14815241-G-A 12703312-G-A FT296300 YY+
15326928-A-G 13215046-A-G FT224290 YY+
15992514-C-T 13880634-C-T FGC36175 YY+
16047318-C-T 13935438-C-T FT224377 Y+
16228298-T-C 14116418-T-C FT224393 YY+
16484096-A-T 14372216-A-T YY12×T+
16551643-A-G 14439763-A-G FT30295 YY+
17128462-A-G 15016582-A-G FT224532 YY+
17341919-G-C 15230039-G-C FT224561 YY+
17417351-A-G 15305471-A-G FT224574 YY+
18125750-A-G 16013870-A-G YY+
18855294-G-A 16743414-G-A FT224729 YY+
21101352-G-C 18939466-G-C FT224833 YY+
21323556-G-A 19161670-G-A FT224871 Y+
21467464-C-A 19305578-C-A FT224893 YY+
21784341-A-T 19622455-A-T FT224937 YY+
22145411-TA-T 19983525-TA-T +
23048598-A-G 20886712-A-G FT299182 Y+
23068673-T-G 20906787-T-G FT225081 YY+
23114330-C-T 20952444-C-T FT225087 YY+
23302902-A-G 21141016-A-G FT225117 YY+
28603916-C-A 26457769-C-A +
28668994-A-G 26522847-A-G FT225245 +
9030495-G-A 9192886-G-A BY77520 Y+
23315713-C-CTTT 21153827-C-CTTT 20×T+
13568873-T-C 11413197-T-C +
13568858-T-C 11413182-T-C +
2763771-ACC-A 2895730-ACC-A +
2763772-CCA-C 2895731-CCA-C +
2995729-T-C 3127688-T-C FT223175 +
3089669-G-A 3221628-G-A +
3813458-G-T 3945417-G-T FT223295 +
3969049-T-C 4101008-T-C FT223317 +
4389612-TG-T 4521571-TG-T +
4543716-T-A 4675675-T-A FT223406 +
4698309-A-T 4830268-A-T FT223429 +
5017610-CACAA-C 5149569-CACAA-C +
5784062-C-CAA 5916021-C-CAA 21×A+
6090296-A-T 6222255-A-T FGC8025 Z7134 +
6120260-T-C 6252219-T-C BY22600 +
6734680-C-CTTTT 6866639-C-CTTTT 21×T+
7199178-CA-C 7331137-CA-C +
7282157-TTC-T 7414116-TTC-T +
8065917-T-A 8197876-T-A Y+
8065918-G-A 8197877-G-A Y+
8908905-G-A 9040864-G-A FT223974 +
9030498-A-G 9192889-A-G Y+
9378063-A-C 9540454-A-C Y+
10047859-C-A 10210250-C-A +
13329172-A-G 11173496-A-G +
13507675-G-A 11351999-G-A +
13565522-C-T 11409846-C-T +
13684429-G-A 11528753-G-A +
13713358-C-G 11557682-C-G +
13886423-T-TA 11765717-T-TA +
14937877-T-TC 12825952-T-TC +
15358761-G-GAAAAA 13246880-G-GAAAA 26×A+
16051054-C-CTTCT 13939174-C-CTTCT +
16242420-TG-T 14130540-TG-T +
16435990-T-G 14324110-T-G YY+
17323336-T-G 15211456-T-G YY+
18125764-G-GAAAA 16013884-G-GAAAA +
18608587-C-CA 16496707-C-CA +
20812496-C-G 18650610-C-G FT283684 P4_Gap +
21446213-A-C 19284327-A-C YY+
22048246-TC-T 19886360-TC-T +
22437455-G-A 20275569-G-A DYZ19 +
22462649-C-T 20300763-C-T FT458032 DYZ19 +
23191858-A-G 21029972-A-G FT225102 Y+
24007336-T-A 21861189-T-A FT225196 Y+
24148987-A-C 22002840-A-C P3_b1 +
25200987-G-A 23054840-G-A g1 14×AAGA+
28554579-T-C 26408432-T-C +
28812716-A-T 26666569-A-T +
58842471-C-T 56748400-G-A +
58890994-T-A 56699877-A-T +

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.