Alcalde

BigY2: 700731

Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12

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
700731
10819302-A-T A+
20964429-C-T 18802543-C-T P4_Dst A+
20679749-G-A 18517863-G-A FGC63891 P4_Prx A*
6320957-A-G 6452916-A-G IR3_Dst A*
13687880-A-T 11532204-A-T A*
18298605-C-T 16186725-C-T P6_Prx A*
24348945-G-A 22202798-G-A P3_t1 A*
25582246-A-G 23436099-A-G P1_gr1 A*
26066780-G-C 23920633-G-C P1_Y1 A*
9524124-CAT-C 9686515-CAT-C +
18589560-T-C 16477680-T-C CTS8975 YY+
22442125-G-A 20280239-G-A BY177552 DYZ19 +
2808372-C-G 2940331-C-G BY176366 YY+
5851757-CAT-C 5983716-CAT-C +
7585113-C-T 7717072-C-T BY176472 YY+
8124340-G-A 8256299-G-A BY176535 YY+
8482519-T-C 8614478-T-C BY176582 YY+
8705280-A-G 8837239-A-G BY176610 YY+
9151349-C-T 9313740-C-T BY176665 Y+
9798817-C-A 9961208-C-A BY176686 YY+
13813669-A-G 11692963-A-G BY176698 +
15037071-A-G 12925159-A-G BY176812 YY+
15737373-C-CT 13625493-C-CT +
15810891-C-A 13699011-C-A BY176864 YY+
17477165-T-C 15365285-T-C BY177008 YY+
18096559-C-T 15984679-C-T BY177073 YY+
18236566-AGT-A 16124686-AGT-A +
18614966-G-A 16503086-G-A BY177110 YY+
19368315-G-A 17256435-G-A BY177209 YY+
21158340-G-A 18996454-G-A BY177228 YY+
21590346-A-G 19428460-A-G BY177287 YY+
21846231-T-C 19684345-T-C BY177318 YY+
21923463-T-C 19761577-T-C BY177327 YY+
21945833-A-C 19783947-A-C BY177328 YY+
21971942-G-T 19810056-G-T BY177329 YY+
22270719-A-G 20108833-A-G BY215053 DYZ19 +
22461244-A-T 20299358-A-T BY220674 DYZ19 +
22461245-T-G 20299359-T-G BY220675 DYZ19 +
22461247-C-T 20299361-C-T BY220676 DYZ19 +
22512625-T-A 20350739-T-A DYZ19 +
23132835-C-T 20970949-C-T BY177415 YY+
23599071-C-T 21437185-C-T BY177456 YY+
22281045-G-T 20119159-G-T DYZ19 *
21076785-GTGTT-G,GTGTG 18914899-GTGTT-G,GTGTG *
22230306-G-C 20068420-G-C DYZ19 *
22487810-G-T 20325924-G-T DYZ19 **
15987249-G-A 13875369-G-A **
22564629-G-A 20402743-G-A F25242 **
28815184-G-C 26669037-G-C **
22564636-C-A 20402750-C-A **
13140410-G-T 10629896-G-T **
5240903-T-C 5372862-T-C **
7420498-C-A 7552457-C-A **
10788787-C-A **
23176860-T-G 21014974-T-G **
11026127-C-G **
9070119-C-A 9232510-C-A **
10989427-ACTTC-A **
13488816-G-T 11333140-G-T **
10691997-C-A **
11001556-C-T **
14768563-C-A 12656632-C-A **
17691986-C-A 15580106-C-A **
9936393-G-T 10098784-G-T **
10862989-C-T **
10927179-T-A **
10927189-A-C **
11003164-C-A **
26060206-A-G 23914059-A-G P1_Y1 **
3478355-C-CTT 3610314-C-CTT 14×T**
28549897-G-T 26403750-G-T **
23418981-C-A 21257095-C-A **
16926145-C-T 14814265-C-T **
10991165-T-C **
14298056-T-TA 12177350-T-TA **
10870009-C-T **
10815148-C-G **
10888655-C-T **
27847764-GT-G 25701617-GT-G P1_Y2 **
10832670-G-T **
19125532-A-G 17013652-A-G **
11019184-CACTCA-C **
10877747-G-C **
16275420-C-A 14163540-C-A **
17870813-C-A 15758933-C-A **
10849107-C-A **
21775086-A-G 19613200-A-G **
10997709-T-C **
5869517-C-A 6001476-C-A **
17318345-C-A 15206465-C-A **
7640986-C-A 7772945-C-A **
10879811-T-C **
16184347-A-G 14072467-A-G **
10837856-C-T **
2683347-C-A 2815306-C-A **
10862984-C-T **
10862994-C-T **
10991192-A-C **
10664423-CTACTG-C **
10764548-TTCACTC-T **
7172590-C-A 7304549-C-A Y31839 **
23393437-C-A 21231551-C-A **
14518494-C-A 12406695-C-A **
15338835-C-A 13226953-C-A **
56839731-T-A **
10888648-C-A **
14216233-C-A 12095527-C-A **
10796523-T-C **
21511125-C-A 19349239-C-A **
10963785-A-T **
10963793-C-T **
10963800-A-C **
21109936-G-T 18948050-G-T **
10894838-C-A **
14508709-C-A 12396914-C-A **
7306707-C-T 7438666-C-T **
10863067-C-A **
10863080-T-C **
13705120-A-T 11549444-A-T **
10839549-C-A FT433566 **
28483049-AAAT-A 26336902-AAAT-A **
56846819-G-T **
15107545-G-A 12995632-G-A **
17511680-C-A 15399800-C-A **
17545156-G-T 15433276-G-T **
28622281-C-A 26476134-C-A **
10921146-C-CATTAA **
10809344-A-G **
10664430-A-C **
10921154-T-G **
11034819-C-A **
13474650-C-A 11318974-C-A **
19039150-C-A 16927270-C-A **
10990804-C-T **
10990818-G-T **
10990820-T-C **
2685674-G-A 2817633-G-A **
10653155-T-C **
19125522-C-T 17013642-C-T **
11011569-C-A **
10863064-T-C **
10975937-C-A **
4070075-C-A 4202034-C-A **
18931860-C-A 16819980-C-A **
10951777-T-C **
15183690-G-T 13071776-G-T **
14293611-C-A 12172905-C-A **
10925257-C-A **
11677060-C-A **
14379155-G-A 12258451-G-A **
4271908-C-A 4403867-C-A **
56849940-A-T **
15114749-C-A 13002836-C-A **
17794222-C-A 15682342-C-A **
14280819-C-A 12160113-C-A **
13488929-C-G 11333253-C-G **
10809349-A-T **
10939919-C-A **
10795056-C-A **
10794043-C-T **
8077395-G-T 8209354-G-T **
2773921-C-A 2905880-C-A **
3033051-G-A 3165010-G-A **
3112152-T-C 3244111-T-C **
3275423-T-C 3407382-T-C **
3650860-G-T 3782819-G-T **
3696068-GA-G 3828027-GA-G **
3865955-C-A 3997914-C-A **
4960557-C-A 5092516-C-A **
4964649-C-T 5096608-C-T **
4989702-C-T 5121661-C-T **
5112368-G-T 5244327-G-T **
5198486-T-C 5330445-T-C **
5240884-CCCTT-C 5372843-CCCTT-C 5×CCTT**
5246681-A-G 5378640-A-G **
5855179-G-T 5987138-G-T **
5976911-T-C 6108870-T-C **
6252409-T-C 6384368-T-C IR3_Dst **
6359157-T-C 6491116-T-C **
6474580-C-A 6606539-C-A **
6892127-T-A 7024086-T-A **
7098646-C-T 7230605-C-T **
7102346-C-A 7234305-C-A **
7159230-G-A 7291189-G-A **
7717373-C-T 7849332-C-T **
8045398-T-C 8177357-T-C **
8669743-C-A 8801702-C-A **
8679152-G-T 8811111-G-T **
9120387-G-T **
9094364-A-TG 9256755-A-TG **
9371546-G-T 9533937-G-T **
9928293-C-A 10090684-C-A **
10665988-G-T **
10780514-A-G **
10784068-C-A **
10787088-C-A **
10794028-CT-C **
10807985-C-A **
10809309-A-T **
10809334-A-G **
10809363-C-T **
10813947-C-A **
10824905-C-T **
10827955-C-A **
10833553-C-A **
10841294-C-A **
10858799-C-T FT434344 **
10861994-C-A **
10862996-C-A **
10863078-T-A **
10863092-A-T **
10877729-A-G **
10877733-A-C **
10877741-A-T **
10877755-A-T **
10877758-T-C **
10877760-C-T **
10879743-A-C **
10879751-CCTATT-C **
10879759-A-C **
10885790-A-T **
10885797-C-A **
10885804-C-CTTTTA **
10885812-C-CTCTAT **
10885827-T-G **
10885842-T-C **
10885859-C-G **
10901492-C-A **
10935888-G-T **
10936119-C-A **
10936972-C-G **
10953147-T-C **
10955388-TTCCACTCCACTCCACTCCATTCCATTCCATTACTG-T **
10967884-AT-A **
10967911-T-A **
10969669-C-A **
10975891-C-A **
10991175-C-T **
10991176-A-G **
10991186-C-A **
10991191-G-A **
10996560-T-C **
10997722-TCC-T **
11008827-C-A **
11011528-C-T **
11011537-A-C **
11023220-C-CGATTT **
11023225-C-T **
11032651-C-G **
13466164-T-C 11310488-T-C **
13527049-C-A 11371373-C-A **
13566305-A-G 11410629-A-G **
13652130-GTGGAATGGAATGGAATGGAA-G 11496454-GTGGAATGGAATGGAATGGAA-G 11×TGGAA**
13719334-G-A 11563658-G-A **
13719354-G-T 11563678-G-T **
13719387-G-C 11563711-G-C **
11658053-G-T FT450615 **
11667497-G-A FT450999 **
13887487-C-A 11766781-C-A **
14035143-G-A 11914437-G-A **
14065434-G-C 11944728-G-C FT94591 **
14298063-C-G 12177357-C-G **
14356388-T-C 12235683-T-C **
14386837-C-A 12266133-C-A **
14461356-TTA-T 12340629-TTA-T **
14461365-C-T 12340638-C-T **
14461366-C-G 12340639-C-G **
14795082-T-TTC 12683153-T-TTC **
14888163-C-G 12776229-C-G **
14888177-G-A 12776243-G-A **
14888179-A-C 12776245-A-C **
15045597-C-A 12933687-C-A **
15179081-T-C 13067167-T-C **
15412772-T-C 13300892-T-C FT94624 **
15801588-C-A 13689708-C-A **
15823598-C-A 13711718-C-A **
15866157-C-T 13754277-C-T **
15921645-A-G 13809765-A-G **
15944276-C-A 13832396-C-A **
16029279-C-A 13917399-C-A **
16119959-T-G 14008079-T-G FT219257 P8_Prx 12×TTTC**
16181452-G-A 14069572-G-A **
16184346-C-T 14072466-C-T **
16279593-C-A 14167713-C-A **
16394283-C-A 14282403-C-A **
16399828-T-C 14287948-T-C **
16399830-C-T 14287950-C-T **
16399841-A-G 14287961-A-G **
16399850-T-C 14287970-T-C **
16399854-C-T 14287974-C-T **
16399883-G-A 14288003-G-A **
16399902-AACT-A 14288022-AACT-A **
16399931-A-T 14288051-A-T **
16399935-T-A 14288055-T-A **
16423075-G-T 14311195-G-T **
16828843-A-G 14716963-A-G **
16834746-CAAAAAAAAAAA-C 14722866-CAAAAAAAAAAA-C 45×A**
16933280-C-A 14821400-C-A **
17026528-G-T 14914648-G-T **
17038748-C-A 14926868-C-A **
17211221-A-T 15099341-A-T **
17467069-C-T 15355189-C-T **
17478966-C-A 15367086-C-A **
17648638-G-A 15536758-G-A **
17648646-T-A 15536766-T-A **
17854317-G-A 15742437-G-A **
17988514-G-T 15876634-G-T P7_Prx **
18185205-G-T 16073325-G-T **
19125513-G-A 17013633-G-A **
19125537-T-C 17013657-T-C **
19137490-G-T 17025610-G-T **
19228729-G-A 17116849-G-A **
19275290-CAT-C 17163410-CAT-C **
19356165-C-A 17244285-C-A **
21105513-TA-T 18943627-TA-T **
21296590-C-T 19134704-C-T FT124307 **
21922005-C-T 19760119-C-T **
22164275-G-A 20002389-G-A **
22564638-T-C 20402752-T-C **
22649464-C-T 20487578-C-T **
23126248-G-C 20964362-G-C FT288959 **
23134232-G-T 20972346-G-T **
23395808-C-A 21233922-C-A **
21754743-G-T **
24291044-A-T 22144897-A-T P3_t1 **
24291079-A-T 22144932-A-T P3_t1 **
24291095-A-T 22144948-A-T P3_t1 **
24421083-T-C 22274936-T-C **
24421099-G-A 22274952-G-A **
24604476-G-T 22458329-G-T P3_t2 **
26440567-T-C 24294420-T-C P1_Y1 **
27154983-C-A 25008836-C-A P1_g3 **
27665356-A-ATG 25519209-A-ATG P1_Y2 **
27757838-T-C 25611691-T-C P1_Y2 **
27791851-TCTTCTTC-T 25645704-TCTTCTTC-T P1_Y2 **
28727896-A-G 26581749-A-G FT94804 **
56727813-A-T **
56839752-GA-G **
56849955-G-A **
18627931-A-T 16516051-A-T CTS9035 ***
17056869-C-T 14944989-C-T ***
21650962-C-A 19489076-C-A ***
13446577-T-A 11290901-T-A ***
8658453-GATA-G 8790412-GATA-G 6×ATA***
10949033-T-C ***
2833178-C-T 2965137-C-T 19×T***
10930484-G-T ***
15252926-CA-C 13141012-CA-C 8×A***
15050080-C-A 12938171-C-A ***
10956540-ATTGCT-A,ATT ***
10880029-G-A FT435270 ***
14827255-GTTT-G,GTTTT 12715322-GTTT-G,GTTTT 14×T***
8468065-CAAAAAAAA-C,CAAAAAAA 8600024-CAAAAAAAA-C,CAAAAAAA 24×A***
10671976-C-A ***
13478371-G-T 11322695-G-T ***
10760704-A-AC ***
10924337-G-A,C ***
10929701-C-A ***
10782279-C-A ***
13456138-C-A 11300462-C-A ***
10770553-C-A,T ***
19322272-C-A 17210392-C-A BY154868 ***
10797719-A-C,T ***
2817920-T-C 2949879-T-C ***
3275910-T-C 3407869-T-C ***
5635203-G-T 5767162-G-T ***
9371457-CATATATAT-C,CATATATATAT 9533848-CATATATAT-C,CATATATATAT 22×AT***
9936044-C-T 10098435-C-T ***
10668863-T-C ***
10751749-TACTCC-T ***
10755393-TC-AC,T ***
10770545-A-AACAT,T ***
10770567-CCAGTCCAC-C,CCATTCCACT ***
10770578-CACTCCAC-C,CTACCACTCCAT ***
10770614-AATAC-A,AATAG ***
10842542-TTCCATTCCAT-T,TTCCATTCCAA ***
10952336-A-T ***
11002112-T-A,G ***
13485139-AT-A 11329463-AT-A ***
11652360-G-A ***
15538073-A-G 13426193-A-G ***
16171265-G-T 14059385-G-T ***
16275469-G-A 14163589-G-A ***
17576258-AATAC-A 15464378-AATAC-A ***
18959298-TAAA-T,TA 16847418-TAAA-T,TA 23×A***
19509463-C-A 17397583-C-A ***
21033579-AAC-A 18871693-AAC-A ***
22201016-C-A 20039130-C-A ***
22526460-A-G 20364574-A-G ***
22732878-G-A 20570992-G-A ***

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.