Big Tree: Person Data

Tree Position

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	STR	BigY2 139252
6240726-G-A	6372685-G-A			IR3_Dst				A*
20705429-T-C	18543543-T-C			P4_Prx				A*
15810964-T-G	13699084-T-G	FGC35903	L159 S169		Y	Y		+
7397243-G-C	7529202-G-C		BY176461		Y	Y		+
13481526-C-T	11325850-C-T		BY210374					+
13481564-T-C	11325888-T-C		BY210376					+
22019993-A-T	19858107-A-T		BY177334		Y	Y		+
22444450-G-T	20282564-G-T		BY219405	DYZ19				+
13450411-CTCCATTCCATTCCATTCTATTCCATTCCATTCCAT-C,CTCCATTCCATTCCATTCCAT	11294735-CTCCATTCCATTCCATTCTATTCCATTCCATTCCAT-C,CTCCATTCCATTCCATTCCAT							*
58974788-G-T	56828641-G-T							**
58981804-C-G	56835657-C-G							**
22425412-A-C	20263526-A-C			DYZ19				**
59004623-GGAAAGAAAGAAA-G	56858476-GGAAAGAAAGAAA-G						16×GAAA	**
13254417-G-GT	11098741-G-GT						8×T	**
28797868-A-G	26651721-A-G							**
20340135-C-CT	18178249-C-CT			P5_Dst			26×T	**
28797815-A-G	26651668-A-G							**
27868138-C-A	25721991-C-A			P1_Y2				**
	10776592-C-G							**
	10758035-C-T							**
	10760345-C-A							**
18564316-CTTTTT-C	16452436-CTTTTT-C						19×T	**
	10973608-G-T							**
4959430-C-A	5091389-C-A							**
	56826966-A-CCATTT							**
22996904-C-A	20835018-C-A							**
28622247-A-G	26476100-A-G							**
	10950887-A-C							**
18688529-T-A	16576649-T-A							**
19200940-C-A	17089060-C-A						10×AG	**
14440839-C-A	12320112-C-A							**
14283285-C-A	12162579-C-A							**
	10987771-C-T							**
27733787-G-T	25587640-G-T			P1_Y2				**
13856343-G-GA	11735637-G-GA							**
15364058-TCAAA-T	13252178-TCAAA-T							**
22696222-A-T	20534336-A-T							**
	10758004-C-CGATTA							**
	10758019-C-A							**
13461080-A-T	11305404-A-T							**
	10844864-A-G							**
	10885093-T-G							**
	11016293-T-A							**
14159713-G-T	12039007-G-T							**
13850301-G-T	11729595-G-T							**
	10821892-C-T							**
14224265-CT-C	12103559-CT-C						10×T	**
	10763108-T-A							**
	10763130-C-G							**
21000914-TA-T	18839028-TA-T			P4_Dst				**
24235445-T-A	22089298-T-A			P3_b1				**
28798623-G-C	26652476-G-C							**
22529878-A-AG	20367992-A-AG						9×G	**
23041198-GA-G	20879312-GA-G						34×A	**
13254546-C-A	11098870-C-A							**
	10682597-C-G							**
	11005500-T-C							**
	10971921-C-CTTTTG							**
26098023-AGAG-A	23951876-AGAG-A			P1_Y1				**
	10658623-C-T							**
5393338-C-A	5525297-C-A							**
	10987839-CATT-C							**
	10980733-C-T							**
13461056-C-A	11305380-C-A							**
	10980713-C-G							**
16829252-C-A	14717372-C-A							**
	10866097-C-A							**
	10844838-C-T							**
	10776544-T-A							**
	10987813-C-G							**
9724830-A-AG	9887221-A-AG			IR3_Prx				**
15132065-ATTT-A	13020152-ATTT-A						14×T	**
	10934853-C-T							**
28656128-C-A	26509981-C-A		Y80960					**
7095066-C-T	7227025-C-T							**
22540502-C-A	20378616-C-A							**
22425358-C-A	20263472-C-A			DYZ19				**
17090839-ATTTTTT-A	14978959-ATTTTTT-A						29×T	**
16102026-TTG-T	13990146-TTG-T			P8_Prx				**
28478288-C-A	26332141-C-A							**
	10821867-C-T							**
17584273-G-A	15472393-G-A							**
13939793-CA-C	11819087-CA-C							**
17302239-TAAAAA-T	15190359-TAAAAA-T						22×A	**
	10775402-T-A							**
14887925-A-T	12775991-A-T						10×T	**
2969997-C-A	3101956-C-A							**
	10844833-G-A							**
17144044-G-T	15032164-G-T							**
16062135-A-C	13950255-A-C							**
	10776553-A-T							**
19800615-T-C	17688735-T-C			P5_Prx				**
	11013198-T-C							**
28024142-G-T	25877995-G-T			P1_Y2				**
	56836794-C-A							**
3276141-C-A	3408100-C-A							**
13480433-C-A	11324757-C-A							**
13480434-T-A	11324758-T-A							**
	10865745-C-A							**
5215735-C-A	5347694-C-A							**
16148175-T-G	14036295-T-G			P8_Dst				**
14727319-ATTTTT-A	12615387-ATTTTT-A						23×T	**
14458228-C-A	12337501-C-A							**
9953288-C-A	10115679-C-A							**
7590660-T-G	7722619-T-G							**
19528524-C-CAA	17416644-C-CAA						18×A	**
4372030-C-A	4503989-C-A							**
15926832-C-A	13814952-C-A							**
4133323-C-A	4265282-C-A							**
27792039-G-T	25645892-G-T			P1_Y2				**
28561885-C-A	26415738-C-A							**
28798381-G-T	26652234-G-T							**
8735033-C-A	8866992-C-A							**
2785987-TC-T	2917946-TC-T							**
9402596-C-A	9564987-C-A							**
	10851041-A-G							**
23954218-C-A	21808071-C-A							**
13695554-C-G	11539878-C-G							**
9967263-C-A	10129654-C-A							**
	10821887-C-A							**
13621786-C-A	11466110-C-A							**
	11013207-C-G							**
13350602-C-A	11194926-C-A							**
	10776522-C-A							**
4088469-C-A	4220428-C-A							**
4133908-C-A	4265867-C-A							**
20197606-T-TG	18035720-T-TG			P5_Dst				**
6121045-C-T	6253004-C-T							**
28006377-C-CAA	25860230-C-CAA			P1_Y2				**
	10884782-C-A							**
13226749-A-C	11071073-A-C							**
16095356-C-A	13983476-C-A							**
6478545-G-A	6610504-G-A							**
16050125-C-A	13938245-C-A							**
2681112-C-A	2813071-C-A							**
13952542-C-A	11831836-C-A							**
4123692-C-A	4255651-C-A							**
3229199-C-A	3361158-C-A							**
13411336-C-A	11255660-C-A							**
13468968-C-A	11313292-C-A							**
6491384-C-A	6623343-C-A							**
15671095-G-T	13559215-G-T							**
19577010-A-T	17465130-A-T			P5_Prx				**
13195968-C-A	11040292-C-A		FT440508					**
7422269-C-A	7554228-C-A							**
	56826439-A-G							**
	11027800-T-G							**
13705525-C-T	11549849-C-T							**
	11013177-A-T							**
	10973060-C-T							**
9015383-C-A	9177774-C-A							**
17210937-C-A	15099057-C-A							**
6339132-C-CAA	6471091-C-CAA			IR3_Dst				**
24353156-T-TGA	22207009-T-TGA			P3_t1				**
	56826507-C-A							**
	10776525-T-TGCA							**
	10776527-CATT-C							**
17584299-C-T	15472419-C-T							**
24491668-C-A	22345521-C-A							**
	10807350-C-A							**
15623329-C-A	13511449-C-A							**
	10964798-A-G							**
14194880-G-T	12074174-G-T							**
14194892-G-T	12074186-G-T							**
14250590-G-T	12129884-G-T							**
24613958-G-T	22467811-G-T			P3_t2				**
14506820-C-A	12395025-C-A							**
13976095-AAAAG-A	11855389-AAAAG-A							**
28816021-G-T	26669874-G-T							**
	11651944-C-A							**
7775027-C-T	7906986-C-T							**
28742492-C-A	26596345-C-A							**
3347094-C-A	3479053-C-A							**
	10985121-C-T							**
19410120-C-A	17298240-C-A							**
	10682569-T-A							**
17584263-C-G	15472383-C-G							**
17551624-A-T	15439744-A-T							**
23137450-C-A	20975564-C-A							**
5829819-C-A	5961778-C-A							**
	10939486-G-C							**
	10986832-C-T							**
17144008-A-G	15032128-A-G							**
21836445-C-A	19674559-C-A							**
25963900-T-G	23817753-T-G			P1_Y1				**
	56733830-T-C							**
7180053-T-G	7312012-T-G							**
3285211-C-A	3417170-C-A							**
3734602-T-C	3866561-T-C							**
3848619-A-G	3980578-A-G							**
4006375-C-A	4138334-C-A							**
4172335-T-A	4304294-T-A							**
5011088-C-G	5143047-C-G							**
5251394-C-T	5383353-C-T		FGC15809					**
5620648-G-A	5752607-G-A							**
5644519-C-A	5776478-C-A							**
6509446-A-G	6641405-A-G							**
6798875-C-A	6930834-C-A							**
7039913-C-A	7171872-C-A							**
7076210-G-A	7208169-G-A		FTA27357					**
7095010-C-CTGGCCAAAG	7226969-C-CTGGCCAAAG							**
7095019-T-C	7226978-T-C							**
7095024-C-T	7226983-C-T							**
7095039-C-T	7226998-C-T							**
7095048-A-G	7227007-A-G							**
7095055-T-G	7227014-T-G							**
7095058-C-G	7227017-C-G							**
7095067-A-G	7227026-A-G							**
7095073-A-AAT	7227032-A-AAT							**
7095084-T-C	7227043-T-C							**
7095085-G-A	7227044-G-A							**
7142018-C-A	7273977-C-A							**
7255911-C-A	7387870-C-A							**
7307837-A-G	7439796-A-G							**
7363598-C-A	7495557-C-A							**
7390226-C-T	7522185-C-T							**
8674260-G-C	8806219-G-C		FT83446					**
9040749-G-T	9203140-G-T							**
9211362-C-CAGACAG	9373753-C-CAGACAG							**
9416658-C-A	9579049-C-A							**
9602561-GC-G	9764952-GC-G			IR3_Prx				**
9639084-G-T	9801475-G-T			IR3_Prx				**
10037830-G-C	10200221-G-C							**
	10658642-C-CCA							**
	10669521-T-G							**
	10682521-C-G							**
	10769579-C-T							**
	10778863-G-A							**
	10793768-C-A							**
	10802158-T-C		FT278658					**
	10802226-C-A							**
	10847501-C-A							**
	10849839-C-A							**
	10870856-C-A							**
	10875769-TC-T							**
	10934088-C-A							**
	10939453-GTTCAA-G							**
	10939499-T-C							**
	10939509-C-T							**
	10959361-C-T							**
	10986839-CT-C							**
	10987870-A-C							**
	11013190-TA-C							**
	11022914-C-CTGCAT							**
13268467-C-T	11112791-C-T							**
13349479-T-A	11193803-T-A							**
13490473-C-G	11334797-C-G							**
13501982-C-T	11346306-C-T		FT444438					**
13621743-C-A	11466067-C-A							**
13850307-G-C	11729601-G-C							**
13850334-A-T	11729628-A-T							**
13895950-C-A	11775244-C-A							**
13984400-G-T	11863694-G-T		FT20917					**
13997833-C-A	11877127-C-A							**
14089899-C-A	11969193-C-A							**
14159777-G-T	12039071-G-T							**
14224229-G-GAA	12103523-G-GAA						13×A	**
14444995-C-T	12324268-C-T							**
14456188-A-G	12335461-A-G							**
14456238-C-A	12335511-C-A							**
14468217-C-A	12347486-C-A							**
14695872-G-A	12583938-G-A							**
14695884-G-T	12583950-G-T							**
15735360-G-A	13623480-G-A							**
15785999-T-A	13674119-T-A							**
16032194-A-G	13920314-A-G							**
16119024-T-C	14007144-T-C			P8_Prx				**
16364055-AAACT-A	14252175-AAACT-A							**
16623987-A-G	14512107-A-G							**
16930827-G-T	14818947-G-T							**
17169849-G-A	15057969-G-A							**
17584282-G-T	15472402-G-T							**
17584284-G-T	15472404-G-T							**
17622694-C-A	15510814-C-A							**
18573693-A-G	16461813-A-G							**
19678670-G-T	17566790-G-T			P5_Prx				**
19678690-C-A	17566810-C-A			P5_Prx				**
19678738-A-C	17566858-A-C			P5_Prx				**
19914463-G-A	17802583-G-A			P5_Prx				**
20078683-G-T	17966803-G-T			P5_Dst				**
20625223-C-T	18463337-C-T			P4_Prx				**
21382051-C-A	19220165-C-A							**
22239947-G-T	20078061-G-T			DYZ19				**
22520721-G-A	20358835-G-A		FT339702					**
22713151-C-A	20551265-C-A							**
22854498-C-A	20692612-C-A							**
23202715-TA-T	21040829-TA-T							**
	21751261-A-C							**
24613958-G-GT	22467811-G-GT			P3_t2				**
25012704-A-T	22866557-A-T			g1				**
25012724-A-T	22866577-A-T			g1				**
25849236-G-T	23703089-G-T			P1_Y1				**
26391452-G-T	24245305-G-T			P1_Y1				**
27709151-G-GTGTC	25563004-G-GTGTC			P1_Y2				**
27862585-G-GGA	25716438-G-GGA			P1_Y2			9×GA	**
28462123-G-T	26315976-G-T							**
28485977-A-G	26339830-A-G							**
28498919-G-A	26352772-G-A							**
28574908-A-C	26428761-A-C							**
	56827557-C-A							**
16250624-G-GTTT	14138744-G-GTTT						28×T	***
13866483-G-C	11745777-G-C							***
7341988-C-T	7473947-C-T		M4073					***
7324992-TA-T	7456951-TA-T						9×A	***
	56834830-C-T							***
17946657-C-A	15834777-C-A							***
13254671-C-A	11098995-C-A							***
	11014471-C-A							***
13488598-A-T	11332922-A-T							***
13488625-T-C	11332949-T-C							***
28801455-T-A	26655308-T-A							***
58980918-T-G	56834771-T-G							***
6734680-CT-C,CTT	6866639-CT-C,CTT						21×T	***
13488595-T-TTA	11332919-T-TTA							***
13451170-CTGCAC-C,CTCCAT	11295494-CTGCAC-C,CTCCAT							***
8481504-C-A	8613463-C-A							***
13448060-C-T	11292384-C-T							***
13464462-C-A	11308786-C-A							***
6867680-GTTTTTT-G	6999639-GTTTTTT-G						18×T	***
7103974-C-CT,CTT	7235933-C-CT,CTT						11×T	***
8052134-C-T	8184093-C-T							***
13253396-G-GTTTT,GTTTTTT	11097720-G-GTTTT,GTTTTTT						12×T	***
13453981-C-G	11298305-C-G							***
13488599-CGA-C,CGC	11332923-CGA-C,CGC							***
13926802-T-C	11806096-T-C							***
14194921-G-T	12074215-G-T							***
14354749-C-A	12234044-C-A							***
14993397-TAAAA-T	12881482-TAAAA-T						15×A	***
15221544-AT-A	13109630-AT-A						9×T	***
15221590-C-T	13109676-C-T							***
15734028-C-A	13622148-C-A							***
16320281-G-T	14208401-G-T							***
19270537-CAAA-C,CAA	17158657-CAAA-C,CAA						21×A	***
22362347-G-T	20200461-G-T			DYZ19				***
28800263-A-G	26654116-A-G							***
	56849211-G-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.

Shinnick

Tree Position

Unique Mutations