Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z258 > Z367/S255 > L20/S144 > Z46420 > Z291 > BY3569

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 STRFTDNA
280359
25648085-A-AT 23501938-A-AT P1_b3 10×T+
22362322-T-A 20200436-T-A DYZ19 +
6635925-T-C 6767884-T-C BY60449 YY+
8148162-T-C 8280121-T-C BY70306 YY+
8237601-G-T 8369560-G-T BY70992 YY+
8572020-T-C 8703979-T-C BY74143 YY+
9836752-TG-T 9999143-TG-T +
14202420-C-G 12081714-C-G BY93811 YY+
14419879-C-A 12299154-C-A BY54641 YY+
17080617-A-G 14968737-A-G BY112178 YY+
17107305-A-C 14995425-A-C FT180930 YY+
18752662-AAGGGCTTTGTCAAAT-A 16640782-AAGGGCTTTGTCAAAT-A +
19342946-T-C 17231066-T-C BY128369 YY+
19417113-A-T 17305233-A-T BY128919 YY+
19436091-C-T 17324211-C-T BY129026 YY+
20841823-T-G 18679937-T-G BY212854 P4_Gap +
21143291-C-T 18981405-C-T BY130667 YY+
21455089-A-G 19293203-A-G BY133042 YY+
22270323-A-T 20108437-A-T BY214972 DYZ19 +
22362323-T-A 20200437-T-A DYZ19 +
22362324-T-G 20200438-T-G DYZ19 +
22445058-C-G 20283172-C-G BY157022 DYZ19 +
22523480-G-A 20361594-G-A FGC58418 BY2064 Y+
22806095-C-T 20644209-C-T S403 YY+
22862643-C-T 20700757-C-T BY141318 YY+
23755508-G-A 21593622-G-A BY147435 Y+
23835159-C-T 21673273-C-T BY148190 Y+
28756449-G-A 26610302-G-A Z32382 Y+
28759100-AC-A 26612953-AC-A +
26834853-AAAGGAAGG-A 24688706-AAAGGAAGG-A P1_g2 11×AAGG**
27990655-C-T 25844508-C-T P1_Y2 **
20231508-C-CAAGAAAGAAAGA 18069622-C-CAAGAAAGAAAGA P5_Dst 21×AAGA**
14484432-T-A 12363701-T-A PR1437 **
15587746-C-A 13475866-C-A PR1911 **
26995993-A-G 24849846-A-G P1_r4 **
15092314-C-T 12980403-C-T CTS3643 **
9810794-C-A 9973185-C-A **
17831354-G-T 15719474-G-T **
13451882-C-T 11296206-C-T ***
13451912-C-T 11296236-C-T ***
13450190-T-A 11294514-T-A ***
13838951-T-A 11718245-T-A ***
9937466-T-C 10099857-T-C ***
26153566-CT-C 24007419-CT-C P1_Y1 10×T***
13833826-A-G 11713120-A-G ***
58980974-T-C 56834827-T-C ***
13453026-A-T 11297350-A-T ***
13453028-T-C 11297352-T-C ***
13458606-A-C 11302930-A-C ***
13454293-A-G 11298617-A-G ***
13676608-A-G 11520932-A-G ***
13142926-T-C 10632412-T-C ***
13447070-C-T 11291394-C-T ***
13723344-C-A 11567668-C-A ***
28790608-GTGGAA-G 26644461-GTGGAA-G 4×TGGAA***
9996854-TGA-T 10159245-TGA-T ***
13680839-T-C 11525163-T-C ***
13680855-G-A 11525179-G-A ***
22506475-C-G 20344589-C-G DYZ19 ***
22508574-T-C 20346688-T-C DYZ19 ***
13455861-C-T 11300185-C-T ***
13693897-G-C 11538221-G-C ***
13693898-A-G 11538222-A-G ***
58974011-C-T 56827864-C-T ***
13447057-G-A 11291381-G-A ***
13447083-T-A 11291407-T-A ***
13815533-GAATGCAATGAAATGA-G 11694827-GAATGCAATGAAATGA-G ***
13856267-G-A 11735561-G-A ***
18003292-T-C 15891412-T-C P7_Gap ***
13141382-C-T 10630868-C-T ***
59004623-GGAAA-C,G 56858476-GGAAA-C,G 16×GAAA***
13454297-G-C 11298621-G-C ***
13680815-A-C 11525139-A-C ***
13833809-C-G 11713103-C-G ***
22475371-G-C 20313485-G-C BY61213BY16580 DYZ19 ***
27127501-GCTTC-G 24981354-GCTTC-G P1_g3 10×CTTC***
25412657-T-C 23266510-T-C P2_r2 ***
13833909-T-G 11713203-T-G ***
13839801-G-GAATGGAATGGAATGA 11719095-G-GAATGGAATGGAATGA ***
13447072-C-T 11291396-C-T ***
13452871-T-G 11297195-T-G ***
24861640-CTT-C 22715493-CTT-C IR1_R 27×T***
13839884-T-A 11719178-T-A ***
27791875-T-G 25645728-T-G P1_Y2 ***
13862188-G-C 11741482-G-C ***
13869209-G-C 11748503-G-C ***
13856283-G-A 11735577-G-A ***
27791947-T-G 25645800-T-G P1_Y2 ***
13680854-A-C,T 11525178-A-C,T ***
13723364-A-T 11567688-A-T ***
13680831-G-C 11525155-G-C ***
13717240-G-T 11561564-G-T ***
13734553-C-A 11578877-C-A ***
58820584-C-T 56770287-G-A ***
13812809-A-C 11692103-A-C ***
13447715-A-G 11292039-A-G ***
13723342-G-T 11567666-G-T ***
13869638-A-T 11748932-A-T ***
13717236-G-C 11561560-G-C ***
13717304-T-C 11561628-T-C ***
13833804-A-G 11713098-A-G ***
17662148-T-A 15550268-T-A ***
13717332-A-C 11561656-A-C ***
13860267-A-G 11739561-A-G ***
27791842-T-G 25645695-T-G P1_Y2 ***
58829467-C-T 56761404-G-A 4×CCATT***
13853085-A-G 11732379-A-G BY17773 ***
13141824-C-G 10631310-C-G ***
13451865-ACCCATTCCAG-A 11296189-ACCCATTCCAG-A ***
21323286-C-A 19161400-C-A FT298366 ***
27791890-T-G 25645743-T-G P1_Y2 ***
13850222-T-A,G 11729516-T-A,G ***
25677243-CTT-C 23531096-CTT-C P1_b3 18×T***
13493905-T-C 11338229-T-C ***
13810808-G-C 11690102-G-C ***
13857600-G-A 11736894-G-A ***
28785729-G-GTGGAATGGAA 26639582-G-GTGGAATGGAA 6×TGGAA***
7053358-AAAAG-A,AA 7185317-AAAAG-A,AA 17×AAAG***
13451188-C-CACTCCTTTCCATTCTATTCCACTCCATTCCA 11295512-C-CACTCCTTTCCATTCTATTCCACTCCATTCCA ***
13493903-C-T 11338227-C-T ***
13723370-T-A 11567694-T-A ***
13857993-A-C 11737287-A-C FT29544 ***
13868581-G-A 11747875-G-A FT101521 ***
13869204-G-C 11748498-G-C ***
15558495-T-TAGAC,TAGAT 13446615-T-TAGAC,TAGAT ***
17662167-G-A 15550287-G-A 16×TAGA***
18299274-C-T 16187394-C-T P6_Prx ***
18454843-T-TC 16342963-T-TC P6_Dst ***
19951313-T-A 17839433-T-A P5_Prx ***
20030581-C-T 17918701-C-T P5_Prx ***
20644306-A-T 18482420-A-T P4_Prx ***
20729680-G-A 18567794-G-A P4_Prx ***
22229999-G-T 20068113-G-T DYZ19 ***
22240422-T-C 20078536-T-C DYZ19 ***
22241638-G-A 20079752-G-A DYZ19 ***
22254050-TC-T 20092164-TC-T DYZ19 ***
22254052-T-A 20092166-T-A DYZ19 ***
22267041-T-C 20105155-T-C BY214818 DYZ19 ***
22291935-G-A 20130049-G-A DYZ19 ***
22299551-A-T 20137665-A-T DYZ19 ***
22302722-C-G 20140836-C-G Z35819 DYZ19 ***
22316128-G-T 20154242-G-T DYZ19 ***
22456199-T-C 20294313-T-C DYZ19 ***
22459097-C-T 20297211-C-T DYZ19 ***
24078239-C-T 21932092-C-T P3_b1 ***
24293372-G-A 22147225-G-A P3_t1 ***
24317594-G-A 22171447-G-A P3_t1 ***
24955647-G-A 22809500-G-A g1 ***
25049464-A-T 22903317-A-T g1 ***
26271041-C-G 24124894-C-G P1_Y1 ***
58834692-G-C 56756179-C-G ***
13447107-TATTCCATTCCATTCCATTCC-T 11291431-TATTCCATTCCATTCCATTCC-T 9×ATTCC***
13455863-GGGTTTGAGTCAATAC-G 11300187-GGGTTTGAGTCAATAC-G ***
18726670-CATAT-C 16614790-CATAT-C ***
13864550-T-C,G 11743844-T-C,G ***
13676648-G-A,GTGGAA 11520972-G-A,GTGGAA 11×TGGAA***

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.