Gata

BigY2: B215431
MDKA Birth: Spain

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z2552 > L617 > FGC31068

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 STRBigY2
B215431
28817210-G-A 26671063-G-A A*
19817936-T-C 17706056-T-C P5_Prx A*
22227199-C-T 20065313-C-T DYZ19 A*
22227200-T-A 20065314-T-A DYZ19 A*
22227210-A-C 20065324-A-C DYZ19 A*
22227213-T-G 20065327-T-G DYZ19 A*
22282086-T-A 20120200-T-A DYZ19 A*
22310332-A-T 20148446-A-T DYZ19 A*
24288739-T-C 22142592-T-C P3_t1 A*
26204084-C-T 24057937-C-T P1_Y1 A*
4326022-A-G 4457981-A-G BY58098 +
7038852-G-C 7170811-G-C BY62969 YY+
7743679-C-T 7875638-C-T BY67288 YY+
8248265-C-T 8380224-C-T BY71111 YY+
8759381-C-T 8891340-C-T BY75688 YY+
9507408-C-G 9669799-C-G BY80031 +
14145663-A-G 12024957-A-G BY93345 YY+
14830451-G-A 12718518-G-A BY97851 YY+
14854966-T-C 12743032-T-C BY98031 YY+
15241216-G-A 13129302-G-A BY100397 Y+
15896367-T-C 13784487-T-C BY104771 YY+
16228294-T-C 14116414-T-C BY106123 YY+
16375742-A-G 14263862-A-G BY107358 YY+
16862588-T-G 14750708-T-G BY110660 YY+
17135008-C-A 15023128-C-A BY112559 YY+
17234346-A-G 15122466-A-G BY113164 YY+
17289115-C-A 15177235-C-A BY113522 YY+
18078479-G-C 15966599-G-C BY119781 YY+
20827732-G-A 18665846-G-A P4_Gap +
21201023-C-T 19039137-C-T YY+
21620666-A-T 19458780-A-T YY+
21808399-C-T 19646513-C-T BY47238 YY+
21826035-T-C 19664149-T-C BY135750 YY+
22617652-T-C 20455766-T-C BY139563 YY+
23325822-CT-C 21163936-CT-C +
23461950-C-T 21300064-C-T BY145450 YY+
23816878-G-A 21654992-G-A BY147981 Y+
22233872-C-T 20071986-C-T DYZ19 *
22281445-A-T 20119559-A-T DYZ19 *
22303947-G-A 20142061-G-A DYZ19 *
22320303-T-A 20158417-T-A DYZ19 *
23234121-GTATAA-G 21072235-GTATAA-G *
28794675-G-T 26648528-G-T *
15622559-T-C 13510679-T-C **
13866030-GACCAAAACGT-G 11745324-GACCAAAACGT-G **
22505417-C-A 20343531-C-A DYZ19 **
22360876-G-C 20198990-G-C DYZ19 **
4063888-C-A 4195847-C-A **
10866099-C-A **
20593052-ATC-A 18431166-ATC-A P5_Dst **
3061173-C-A 3193132-C-A FT74344 **
4626349-C-A 4758308-C-A **
10869994-T-C **
16309169-CG-C 14197289-CG-C **
16309175-A-G 14197295-A-G **
16309200-T-C 14197320-T-C **
19992538-A-G 17880658-A-G P5_Prx **
13486731-C-T 11331055-C-T **
10994344-G-T **
28521922-G-T 26375775-G-T **
10997122-T-TCCC **
15533043-A-C 13421163-A-C **
7342101-C-A 7474060-C-A **
13707403-G-T 11551727-G-T **
16309162-G-T 14197282-G-T **
10664822-T-A **
17584300-G-A 15472420-G-A **
2970020-C-A 3101979-C-A **
10869948-A-G **
10869999-T-A **
11013788-C-A **
4388609-A-C 4520568-A-C **
10828460-C-A **
27647782-C-A 25501635-C-A P1_Y2 **
10870429-T-G **
22085835-C-A 19923949-C-A **
28688429-C-A 26542282-C-A **
18378985-T-A 16267105-T-A P6_Prx **
16048088-C-A 13936208-C-A **
20815587-C-A 18653701-C-A P4_Gap **
7704718-C-A 7836677-C-A **
14462487-C-A 12341760-C-A **
17589151-T-C 15477271-T-C **
10678521-C-A **
56848798-T-G **
4201740-C-A 4333699-C-A **
28513606-G-T 26367459-G-T **
10748669-TTCCAC-T **
10748754-C-T **
10758882-G-T **
11652638-C-A **
14994250-C-A 12882335-C-A **
4961516-T-G 5093475-T-G **
10795111-G-A **
15368719-C-A 13256839-C-A **
3051703-C-A 3183662-C-A **
22629723-C-A 20467837-C-A **
10748695-TCCG-T **
10748713-G-A **
56848822-C-A **
18625379-G-T 16513499-G-T **
2758249-C-A 2890208-C-A **
2774838-AT-A 2906797-AT-A **
2852665-A-G 2984624-A-G **
2907011-A-T 3038970-A-T **
3033092-C-A 3165051-C-A **
3604129-C-A 3736088-C-A **
3620793-C-A 3752752-C-A **
3639673-G-T 3771632-G-T **
3788530-A-G 3920489-A-G **
3795129-G-T 3927088-G-T **
3836916-C-A 3968875-C-A **
4067219-C-A 4199178-C-A **
4105725-G-T 4237684-G-T **
4240886-C-A 4372845-C-A **
4503207-G-T 4635166-G-T **
4630827-G-T 4762786-G-T **
4788822-C-A 4920781-C-A **
4980686-C-A 5112645-C-A **
5100938-C-T 5232897-C-T **
5186558-C-T 5318517-C-T FT57114 **
5323203-C-A 5455162-C-A **
5969776-C-A 6101735-C-A **
5997475-C-A 6129434-C-A **
6232977-G-A 6364936-G-A IR3_Dst **
6244453-G-T 6376412-G-T IR3_Dst **
6626807-C-A 6758766-C-A **
6654047-C-A 6786006-C-A **
6772324-T-G 6904283-T-G **
6978324-C-A 7110283-C-A **
7140946-C-A 7272905-C-A **
7241827-G-T 7373786-G-T **
7271251-T-C 7403210-T-C **
7380735-T-C 7512694-T-C **
7424735-C-A 7556694-C-A **
7621764-G-T 7753723-G-T **
9107617-G-T **
9107755-G-T **
9107766-G-T **
9231754-A-C 9394145-A-C **
9602902-A-T 9765293-A-T IR3_Prx **
9602957-G-T 9765348-G-T IR3_Prx **
9944069-G-T 10106460-G-T **
9971679-C-A 10134070-C-A **
9996405-C-G 10158796-C-G **
10652865-C-A **
10654252-A-G **
10654261-C-T **
10666533-C-T **
10666550-G-A **
10666554-A-C **
10666559-T-A **
10666563-C-T **
10666572-C-A **
10668634-T-A **
10668651-C-A **
10668653-T-C **
10668662-A-C **
10671649-C-A **
10678809-C-A **
10682843-C-A **
10684291-C-A FT428945 **
10744909-C-A **
10748723-A-T **
10757031-ACTCT-A **
10759820-C-G **
10778499-G-T **
10781091-A-G **
10804921-AATCCTTTC-A **
10804932-T-A **
10805004-T-A **
10810966-C-A **
10818146-C-A **
10826660-G-A **
10828412-C-A **
10834250-C-A **
10842061-A-T **
10844145-T-C FT433756 **
10845615-T-G **
10845621-C-G **
10865217-C-A **
10876915-C-A **
10882790-C-A **
10894740-CA-C **
10899075-C-A **
10900487-C-A **
10950545-T-G **
10950553-A-C **
10955411-C-T **
10955428-C-T **
10955436-C-G **
10970788-A-T **
10973609-T-C **
10984369-C-A **
10984370-C-T **
10989108-A-T **
10989113-ACT-A **
10989462-T-G **
10990127-A-T **
10994336-C-A FT439591 **
10994338-A-T **
10994343-A-T **
10995758-C-A **
11008010-C-A **
11023089-C-T **
11028097-G-C **
11031473-T-G **
11038146-A-T **
13214525-G-T 11058849-G-T **
13355069-A-C 11199393-A-C **
13384647-C-A 11228971-C-A **
13411022-C-A 11255346-C-A **
13565531-C-A 11409855-C-A **
13576789-A-G 11421113-A-G **
13706398-G-A 11550722-G-A BY186943 **
11648977-A-C **
11650513-A-G **
11651020-T-A **
11654843-G-T FT450471 **
11664352-C-A **
13854971-G-T 11734265-G-T **
13860602-C-A 11739896-C-A **
13895925-C-A 11775219-C-A **
14023154-G-A 11902448-G-A **
14149346-C-A 12028640-C-A **
14155093-G-T 12034387-G-T **
14179832-C-A 12059126-C-A FT190485 **
14224424-C-A 12103718-C-A **
14281010-T-C 12160304-T-C **
14305012-T-C 12184306-T-C **
14351263-A-G 12230558-A-G **
14422698-T-G 12301973-T-G **
14461192-A-C 12340465-A-C **
14461308-T-G 12340581-T-G **
14493564-T-G 12381761-T-G **
14795129-C-A 12683200-C-A **
14960194-G-T 12848269-G-T **
14992689-C-A 12880774-C-A **
15041021-A-C 12929111-A-C **
15395314-C-A 13283434-C-A **
15619153-C-A 13507273-C-A **
15622540-G-A 13510660-G-A **
15650568-C-A 13538688-C-A **
15769448-A-C 13657568-A-C **
15799243-C-A 13687363-C-A **
16007868-T-A 13895988-T-A **
16045361-C-A 13933481-C-A **
16220835-C-A 14108955-C-A **
16309087-T-A 14197207-T-A **
16309088-A-C 14197208-A-C **
16309102-G-C 14197222-G-C **
16309103-G-A 14197223-G-A **
16309108-G-A 14197228-G-A **
16309134-A-G 14197254-A-G **
16309144-C-T 14197264-C-T **
16309151-A-C 14197271-A-C **
16309152-G-A 14197272-G-A **
16309159-G-C 14197279-G-C **
16493231-G-A 14381351-G-A **
16673115-C-A 14561235-C-A **
16701871-G-T 14589991-G-T **
17135881-C-A 15024001-C-A **
17246138-G-T 15134258-G-T **
17367744-C-A 15255864-C-A **
17374349-A-G 15262469-A-G **
17466677-A-C 15354797-A-C **
17486208-C-A 15374328-C-A **
17492005-C-A 15380125-C-A **
17503238-G-A 15391358-G-A **
17584305-AT-A 15472425-AT-A **
17718454-T-A 15606574-T-A **
17735383-C-A 15623503-C-A **
17757616-T-A 15645736-T-A **
17782488-T-A 15670608-T-A **
18133250-T-A 16021370-T-A **
18747160-A-T 16635280-A-T **
18847609-A-G 16735729-A-G **
18874406-C-A 16762526-C-A **
19462763-G-A 17350883-G-A **
19496292-C-A 17384412-C-A **
19668855-T-A 17556975-T-A P5_Prx **
19749348-C-T 17637468-C-T P5_Prx **
19770261-G-A 17658381-G-A P5_Prx **
20045208-CAAAAAAAAAAAAAA-C 17933328-CAAAAAAAAAAAAAA-C P5_Prx 30×A**
20097880-G-T 17986000-G-T P5_Dst **
20252897-G-A 18091011-G-A P5_Dst **
20815589-C-A 18653703-C-A P4_Gap **
21394479-T-G 19232593-T-G **
22113510-C-A 19951624-C-A **
22134115-A-C 19972229-A-C **
22155459-C-A 19993573-C-A **
22234740-T-C 20072854-T-C DYZ19 **
22491068-A-C 20329182-A-C DYZ19 **
22712996-C-A 20551110-C-A **
22775340-T-A 20613454-T-A **
23825125-G-A 21663239-G-A **
24513584-C-A 22367437-C-A **
24602336-A-ATT 22456189-A-ATT P3_t2 **
25995054-T-A 23848907-T-A P1_Y1 **
26140011-G-T 23993864-G-T P1_Y1 **
26156790-A-T 24010643-A-T P1_Y1 **
27872520-G-A 25726373-G-A P1_Y2 **
28601739-A-G 26455592-A-G **
28627442-C-A 26481295-C-A **
28767139-C-A 26620992-C-A **
28771567-C-A 26625420-C-A **
56841878-A-G **
56851212-G-C **
56872227-C-A **
31116-C-G **
16704916-G-T 14593036-G-T ***
13869178-T-A 11748472-T-A ***
6444973-T-C 6576932-T-C FT100897 ***
3272888-C-A 3404847-C-A ***
3346275-C-A 3478234-C-A ***
24052433-C-A 21906286-C-A P3_b1 ***
13496345-T-C 11340669-T-C ***
15183006-C-A 13071092-C-A ***
15931505-C-A 13819625-C-A ***
15957663-C-A 13845783-C-A ***
21262318-C-A 19100432-C-A ***
21690256-C-A 19528370-C-A ***
22774799-G-T 20612913-G-T ***
24364034-C-T 22217887-C-T ***
27842263-G-T 25696116-G-T P1_Y2 ***
27860789-G-T 25714642-G-T P1_Y2 ***

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.