Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > Z195/S355 > Z198 > Z46513 > ZS312 > Z262 > M167 > Z264 > Z205 > CTS606

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
MI61459
22242028-C-G 20080142-C-G DYZ19 A+
28817832-G-T 26671685-G-T A*
28817825-G-T 26671678-G-T A*
3449150-A-G 3581109-A-G A*
13450562-T-G 11294886-T-G A*
13448329-C-A 11292653-C-A A*
6180483-T-C 6312442-T-C IR3_Dst A*
19788059-G-A 17676179-G-A P5_Prx A*
19924554-G-A 17812674-G-A P5_Prx A*
20493539-T-TAA 18331653-T-TAA P5_Dst 16×AA*
20642986-T-G 18481100-T-G P4_Prx A*
24253702-T-C 22107555-T-C P3_b1 A*
24271678-G-T 22125531-G-T P3_b1 A*
25862187-T-G 23716040-T-G P1_Y1 A*
26113213-A-G 23967066-A-G P1_Y1 A*
22272013-T-C 20110127-T-C Z14655 DYZ19 +
10831536-C-T +
6666377-C-T 6798336-C-T FTA35823 YY+
2925342-G-C 3057301-G-C FTA37259 +
3274473-A-G 3406432-A-G FTA37276 +
4020992-G-T 4152951-G-T FTA37323 +
4216156-C-T 4348115-C-T FTA37336 +
4706611-TATA-T 4838570-TATA-T +
5056261-C-A 5188220-C-A FTA37374 +
5076012-T-C 5207971-T-C FTA37377 +
5688906-G-GT 5820865-G-GT +
5756548-G-A 5888507-G-A FT100759 +
5969737-A-G 6101696-A-G FTA37418 +
6742756-T-C 6874715-T-C FTA35832 YY+
6978239-G-A 7110198-G-A FTA35860 YY+
8287814-T-C 8419773-T-C FTA36018 YY+
9450581-A-G 9612972-A-G FTA36135 YY+
13205769-G-A 11050093-G-A +
14068644-C-T 11947938-C-T FTA36177 YY+
14425769-A-G 12305044-A-G FTA36241 YY+
15775283-C-A 13663403-C-A Y+
16288826-G-A 14176946-G-A FTA36440 YY+
16538135-T-C 14426255-T-C FTA36475 YY+
16644324-T-C 14532444-T-C FTA36487 YY+
16851798-A-T 14739918-A-T FTA36509 YY+
16985346-C-T 14873466-C-T FTA36528 YY+
17275142-C-A 15163262-C-A YY+
19324701-A-T 17212821-A-T FTA36819 Y+
19355446-G-A 17243566-G-A FTA36823 Y+
21090704-T-A 18928818-T-A FTA36859 YY+
21375574-G-T 19213688-G-T FTA36908 YY+
21665002-C-T 19503116-C-T FTA36958 YY+
22123848-C-T 19961962-C-T FTA37016 YY+
22273369-T-G 20111483-T-G DYZ19 +
22612594-G-A 20450708-G-A FTA37044 YY+
23322450-G-A 21160564-G-A FTA37129 YY+
23979142-T-C 21832995-T-C FTA37182 Y+
24391447-C-T 22245300-C-T Y+
24474955-C-T 22328808-C-T Y+
24478214-G-A 22332067-G-A FTA37194 Y+
13458361-G-GATTCC 11302685-G-GATTCC 6×ATTCC*
22320049-G-C 20158163-G-C FT455806 DYZ19 *
5995350-C-T 6127309-C-T *
3388262-C-A 3520221-C-A *
10691020-CTCCCT-C,CTCCAT *
22289044-T-A 20127158-T-A DYZ19 *
22303970-C-T 20142084-C-T DYZ19 *
27849207-T-C 25703060-T-C P1_Y2 *
5275872-A-C 5407831-A-C A12311Y60647 **
6155120-A-G 6287079-A-G FGC7599 IR3_Dst **
22271929-G-T 20110043-G-T BY40016 DYZ19 **
8055279-TATA-T 8187238-TATA-T **
21575566-G-A 19413680-G-A **
15576475-G-A 13464595-G-A **
15576488-T-C 13464608-T-C **
5586641-T-C 5718600-T-C **
22271997-T-C 20110111-T-C BY24412 DYZ19 **
21651670-A-AC 19489784-A-AC **
18316594-A-T 16204714-A-T P6_Prx **
16117960-G-T 14006080-G-T P8_Prx 22×A**
10002915-T-C 10165306-T-C **
9120876-A-ATT **
22271912-T-A 20110026-T-A BY21445 DYZ19 **
3266426-A-G 3398385-A-G **
3612245-T-A 3744204-T-A **
4913693-T-A 5045652-T-A **
5979284-G-A 6111243-G-A FT114826 **
7073690-C-A 7205649-C-A **
7243391-C-T 7375350-C-T **
7277294-C-T 7409253-C-T **
7591204-ATTT-A 7723163-ATTT-A 11×T**
7965949-C-A 8097908-C-A **
7965961-G-T 8097920-G-T **
7966340-T-C 8098299-T-C **
10043002-C-T 10205393-C-T **
13329987-CTTTTT-C 11174311-CTTTTT-C 15×T**
13571103-C-T 11415427-C-T **
13583846-T-G 11428170-T-G **
13583871-A-AC 11428195-A-AC **
13583872-GATGA-G 11428196-GATGA-G **
14569950-A-G 12458150-A-G **
15687118-T-A 13575238-T-A **
16665224-T-C 14553344-T-C **
16938225-T-C 14826345-T-C **
16962966-C-T 14851086-C-T **
17903267-C-T 15791387-C-T **
18915122-A-G 16803242-A-G **
19518732-T-C 17406852-T-C **
19613223-C-A 17501343-C-A P5_Prx **
19922878-C-T 17810998-C-T P5_Prx **
21347349-AT-A 19185463-AT-A **
21498415-T-C 19336529-T-C **
22271973-C-G 20110087-C-G BY52293 DYZ19 **
22271998-C-A 20110112-C-A BY33842 DYZ19 **
22271999-T-A 20110113-T-A BY33843 DYZ19 **
28721388-T-C 26575241-T-C **
56852500-C-T **
15909754-C-CATAT 13797874-C-CATAT 18×AT***
13481937-C-A 11326261-C-A ***
17597154-CTTT-C,CTT 15485274-CTTT-C,CTT 20×T***
13453383-C-T 11297707-C-T ***
10987316-A-AC,C ***
8750886-C-A 8882845-C-A ***
13705496-G-T 11549820-G-T ***
13481957-A-T 11326281-A-T ***
28596399-GTTTT-G 26450252-GTTTT-G 16×T***
4364429-GT-G 4496388-GT-G 12×T***
13195468-T-C 11039792-T-C 4×CACTC***
5180568-T-A 5312527-T-A ***
4474281-A-AT 4606240-A-AT 9×T***
4076728-GTATA-G 4208687-GTATA-G 10×TA***
5593309-C-CAA 5725268-C-CAA 15×A***
6024536-TTG-T,TTGTG 6156495-TTG-T,TTGTG 15×TG***
5180561-T-A 5312520-T-A ***
8169250-T-C 8301209-T-C ***
23304435-C-CTT 21142549-C-CTT 11×T***
3634115-A-G 3766074-A-G ***
3920815-A-G 4052774-A-G ***
5065999-A-G 5197958-A-G ***
5559980-AC-A 5691939-AC-A ***
5591202-A-G 5723161-A-G ***
7094735-C-CA 7226694-C-CA ***
7094778-A-G 7226737-A-G ***
7094792-A-G 7226751-A-G ***
7094797-A-G 7226756-A-G ***
14416458-A-T 12295755-A-T ***
14956077-T-C 12844152-T-C ***
14990580-C-T 12878665-C-T ***
15186299-T-C 13074385-T-C ***
15301758-A-G 13189857-A-G ***
15658233-ATAT-A 13546353-ATAT-A ***
16738817-A-G 14626937-A-G ***
17272467-T-TA,TAA 15160587-T-TA,TAA 13×A***
17924517-T-C 15812637-T-C ***
18106575-C-T 15994695-C-T ***
18106578-A-G 15994698-A-G ***
18265980-T-C 16154100-T-C ***
18886059-A-G 16774179-A-G ***
18890491-A-G 16778611-A-G ***
21839943-T-TG 19678057-T-TG ***
22271903-C-CCAGA 20110017-C-CCAGA DYZ19 ***
23006912-A-G 20845026-A-G ***
26170530-A-G 24024383-A-G P1_Y1 ***
28652520-T-C 26506373-T-C ***

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.