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	STR	BigY3 248822	BigY2 248822
26029934-T-C	23883787-T-C			P1_Y1		A*	A*
13453907-C-G	11298231-C-G					A*
28786664-G-GAATAC	26640517-G-GAATAC					A*
5137338-T-A	5269297-T-A					+
6597340-TA-T	6729299-TA-T				28×A	*
7613833-G-GAA	7745792-G-GAA				31×A		**
13939214-C-T	11818508-C-T		Y1944 FGC7750				**
58848158-CCCATT-C	56742662-CAATGG-C				10×CCATT		**
21325838-C-A	19163952-C-A						**
7990458-TTC-T	8122417-TTC-T						**
14377079-A-C	12256375-A-C		PF1637 CTS2591 M5136				**
23418994-C-A	21257108-C-A		Y19581				**
24387414-CAT-C	22241267-CAT-C					**
28760214-C-A	26614067-C-A						**
26103008-A-T	23956861-A-T			P1_Y1		**
17193130-C-A	15081250-C-A						**
16042736-C-A	13930856-C-A						**
	10979542-C-G						**
6778931-C-A	6910890-C-A						**
	10989447-T-A						**
	10989450-C-G						**
	10989491-CTCCG-T						**
	56742676-G-C						**
	10660907-T-C						**
	10801948-A-T						**
	10761781-C-A						**
28624006-C-A	26477859-C-A						**
17462034-C-A	15350154-C-A						**
	10899085-C-A						**
	10950442-T-G						**
21092267-C-A	18930381-C-A						**
	10933009-A-C						**
	10933020-T-A						**
	10933027-C-T						**
	10933032-T-C						**
	10933040-T-C						**
	10933044-A-C						**
	10933058-C-T						**
	10933086-T-A						**
21551430-G-T	19389544-G-T						**
9559495-TG-T	9721886-TG-T			IR3_Prx			**
	10927259-A-T						**
	10836571-C-T						**
	10924383-A-T						**
14610714-C-A	12498916-C-A						**
14524690-G-T	12412891-G-T						**
7221628-C-A	7353587-C-A		FT145763				**
9602725-T-G	9765116-T-G			IR3_Prx			**
	10899134-C-A						**
17646654-C-A	15534774-C-A						**
17370883-C-A	15259003-C-A						**
	10899129-A-C						**
7155337-C-A	7287296-C-A						**
10006052-C-A	10168443-C-A						**
	10797966-ACTCCG-A						**
21446406-T-A	19284520-T-A						**
21446411-T-C	19284525-T-C						**
	10772690-C-G		FT205940				**
15124009-C-A	13012096-C-A						**
7028409-G-A	7160368-G-A						**
	10899144-C-CG						**
18812080-C-A	16700200-C-A						**
	10899127-T-C						**
	10836471-T-A						**
	10899131-T-A						**
	10899141-T-A						**
13478207-C-A	11322531-C-A						**
19950235-C-A	17838355-C-A			P5_Prx			**
24387460-A-G	22241313-A-G					**
	10793990-C-T						**
	10794010-C-G						**
23098816-CAAAAAA-C	20936930-CAAAAAA-C				25×A		**
	10982204-C-T						**
	10761738-A-C						**
	10761763-A-C						**
	10761767-T-C						**
25246516-G-T	23100369-G-T			P2_r1			**
14098694-C-A	11977988-C-A						**
	10756111-C-A						**
	11013908-T-TATTCC						**
17722910-C-A	15611030-C-A						**
22835395-C-A	20673509-C-A						**
	10783197-A-T						**
6384277-G-T	6516236-G-T						**
17175317-G-T	15063437-G-T						**
17605030-C-A	15493150-C-A						**
15911990-C-A	13800110-C-A						**
14607840-G-T	12496042-G-T						**
	10756064-T-C		FT429819				**
	10950456-C-A						**
18910999-C-A	16799119-C-A						**
	10982217-T-G						**
	10982224-C-T						**
	11019141-C-A						**
5322653-C-A	5454612-C-A						**
14297280-A-G	12176574-A-G						**
15701196-C-A	13589316-C-A						**
19567143-A-C	17455263-A-C						**
19567145-A-C	17455265-A-C						**
	10924391-T-ACATTATATTA						**
	10800712-C-T						**
8848139-C-A	8980098-C-A						**
22843844-C-A	20681958-C-A						**
28763472-C-A	26617325-C-A						**
14078831-C-A	11958125-C-A						**
	10982218-C-G						**
4900076-C-A	5032035-C-A						**
	10989435-C-A						**
	11035353-A-T						**
	10899500-G-T						**
9602737-GT-G	9765128-GT-G			IR3_Prx			**
	10899121-A-T						**
	10899147-T-C						**
	10899174-C-G						**
24874316-C-A	22728169-C-A			g1			**
18738202-C-A	16626322-C-A						**
	10756051-C-G						**
	10756056-GCA-G						**
	10756063-A-T						**
	10756093-A-T						**
	10756095-T-C						**
	10756130-T-A						**
16526582-C-A	14414702-C-A						**
	10761527-C-G						**
	10921168-T-A						**
	10921202-A-C						**
	10933064-G-C						**
14027162-C-A	11906456-C-A						**
15975715-C-A	13863835-C-A						**
	10801925-C-A						**
	11035359-C-A						**
	10894021-C-A						**
	10836528-C-G						**
7389248-C-A	7521207-C-A						**
7590860-C-A	7722819-C-A						**
	10783234-C-T						**
	10658655-T-G						**
	10761490-C-T		FT430048				**
18986466-C-A	16874586-C-A						**
	10783225-T-G						**
16800727-C-A	14688847-C-A						**
	11022030-C-G						**
	10761735-A-T						**
23367213-C-A	21205327-C-A						**
2740583-C-A	2872542-C-A						**
2814890-AAT-A	2946849-AAT-A						**
2839760-C-A	2971719-C-A						**
2852477-C-A	2984436-C-A						**
2859254-C-A	2991213-C-A						**
2980770-C-A	3112729-C-A						**
3078549-C-A	3210508-C-A						**
3659966-G-T	3791925-G-T						**
4241550-C-A	4373509-C-A						**
4505209-C-A	4637168-C-A						**
4969898-A-T	5101857-A-T						**
5191900-C-A	5323859-C-A						**
5358959-G-A	5490918-G-A						**
5546888-G-T	5678847-G-T						**
5761340-G-T	5893299-G-T						**
5874169-A-G	6006128-A-G						**
5948988-G-T	6080947-G-T						**
6350788-G-T	6482747-G-T						**
7106333-G-T	7238292-G-T						**
7115540-C-G	7247499-C-G						**
7115542-G-A	7247501-G-A						**
7115564-T-G	7247523-T-G						**
7115570-T-TC	7247529-T-TC						**
7142272-G-A	7274231-G-A	FT20439	FT18992				**
7167173-T-C	7299132-T-C						**
7174269-A-C	7306228-A-C		Z37979				**
7174272-T-C	7306231-T-C						**
7396364-G-A	7528323-G-A						**
7642936-C-A	7774895-C-A						**
7665370-GA-G	7797329-GA-G						**
8080185-C-T	8212144-C-T						**
8143506-C-A	8275465-C-A						**
8376357-C-A	8508316-C-A						**
8379380-T-G	8511339-T-G						**
8694254-C-A	8826213-C-A						**
	10658650-T-G						**
	10670990-CTTT-C						**
	10693693-C-A						**
	10756053-A-AAT						**
	10760262-C-T						**
	10760268-T-A						**
	10761675-T-C						**
	10761682-C-T						**
	10761687-G-C						**
	10761692-C-G						**
	10761694-A-T						**
	10761700-C-T						**
	10761702-C-A						**
	10761722-C-T						**
	10761724-A-C						**
	10761725-A-C						**
	10761755-C-A						**
	10761773-T-A						**
	10761775-T-G						**
	10761791-A-G						**
	10783131-C-CA						**
	10783135-C-CATTT						**
	10783158-ATTCATTCCCC-A						**
	10783182-G-A		FT56690				**
	10783187-T-A						**
	10783199-G-C						**
	10792756-TC-T						**
	10800700-C-T						**
	10824788-C-T						**
	10824789-A-G						**
	10834243-C-A						**
	10839736-C-A						**
	10873147-C-G						**
	10907921-C-A						**
	10920782-G-T						**
	10927234-A-G						**
	10945140-C-A		FTB50980				**
	10950458-A-T						**
	10964139-C-A						**
	11024983-T-C						**
	11030166-T-A						**
	11035304-CACCACTTCAT-G						**
13254402-T-G	11098726-T-G						**
13350950-C-A	11195274-C-A						**
13594451-A-C	11438775-A-C						**
13594459-T-G	11438783-T-G						**
13799538-C-A	11678832-C-A			DYZ17			**
13809369-G-A	11688663-G-A			DYZ17			**
13856358-G-T	11735652-G-T			DYZ17			**
13856370-A-G	11735664-A-G			DYZ17			**
13903214-C-A	11782508-C-A						**
13930211-G-T	11809505-G-T						**
14069051-C-A	11948345-C-A						**
14099746-C-A	11979040-C-A						**
14123875-C-T	12003169-C-T						**
14160462-G-T	12039756-G-T						**
14284938-C-A	12164232-C-A						**
14297279-C-T	12176573-C-T						**
14297291-T-C	12176585-T-C						**
14338887-C-A	12218182-C-A						**
14384844-A-G	12264140-A-G						**
14398327-C-A	12277623-C-A						**
14716776-C-A	12604844-C-A						**
14719386-C-A	12607454-C-A		FT335727				**
14762444-A-G	12650513-A-G						**
14834797-A-G	12722864-A-G						**
14848877-G-A	12736943-G-A						**
14965365-C-A	12853440-C-A						**
15150724-G-T	13038811-G-T						**
15412865-C-A	13300985-C-A						**
15439915-C-A	13328035-C-A						**
15442391-G-A	13330511-G-A						**
15650425-T-C	13538545-T-C						**
15659012-C-A	13547132-C-A						**
15717126-C-A	13605246-C-A						**
15863114-C-A	13751234-C-A						**
15909269-G-T	13797389-G-T						**
16085371-C-T	13973491-C-T						**
16085755-C-A	13973875-C-A						**
16506198-C-A	14394318-C-A						**
16581276-AAT-A	14469396-AAT-A						**
17181960-T-C	15070080-T-C						**
17431755-G-T	15319875-G-T						**
17625455-C-A	15513575-C-A						**
17713972-G-T	15602092-G-T						**
17914964-C-A	15803084-C-A						**
18019198-C-T	15907318-C-T						**
18220073-C-A	16108193-C-A						**
18400947-T-G	16289067-T-G			P6_Gap			**
18670218-C-T	16558338-C-T						**
18853692-A-G	16741812-A-G						**
18921555-C-A	16809675-C-A						**
18949908-C-A	16838028-C-A						**
19302516-G-T	17190636-G-T						**
19559139-G-T	17447259-G-T						**
20101771-T-A	17989891-T-A			P5_Dst			**
20672844-A-AT	18510958-A-AT			P4_Prx			**
21296523-C-A	19134637-C-A						**
21316778-G-T	19154892-G-T						**
21325818-A-G	19163932-A-G						**
21353361-A-C	19191475-A-C						**
21824828-A-C	19662942-A-C						**
21899403-C-A	19737517-C-A						**
21921883-C-A	19759997-C-A						**
22008340-G-A	19846454-G-A						**
22028738-C-A	19866852-C-A						**
22810006-C-T	20648120-C-T						**
23411395-T-G	21249509-T-G						**
23421177-A-C	21259291-A-C						**
23441719-G-T	21279833-G-T						**
23465759-C-A	21303873-C-A						**
23810520-G-T	21648634-G-T						**
23819107-T-A	21657221-T-A						**
23952634-A-G	21806487-A-G						**
25246524-G-T	23100377-G-T			P2_r1			**
26170556-A-AAGC	24024409-A-AAGC			P1_Y1			**
27958539-T-C	25812392-T-C			P1_Y2			**
28648564-C-A	26502417-C-A						**
28809331-G-A	26663184-G-A						**
24387369-A-T	22241222-A-T					**
24387369-A-ATATG	22241222-A-ATATG					**
26379409-AC-A	24233262-AC-A			P1_Y1		**
14128937-T-C	12008231-T-C					**
15628701-C-T	13516821-C-T					**
19585393-A-T	17473513-A-T			P5_Prx		**
19642011-C-A	17530131-C-A			P5_Prx		**
19689976-G-C	17578096-G-C			P5_Prx		**
20801788-G-T	18639902-G-T			P4_Prx		**
21579671-T-C	19417785-T-C					**
26244824-T-C	24098677-T-C			P1_Y1		**
8466149-T-TTGGCA	8598108-T-TTGGCA						***
18157115-C-T	16045235-C-T		Y22841			***
2768138-C-T	2900097-C-T		Z36299				***
15842561-T-C	13730681-T-C		FGC53783				***
22444825-T-C	20282939-T-C		BY36448	DYZ19		***
	11035337-A-C						***
2790303-CTTTT-C,CTTT	2922262-CTTTT-C,CTTT				15×T		***
22166189-C-A	20004303-C-A						***
21318477-CAA-C,CA	19156591-CAA-C,CA				19×A		***
	11035274-T-C						***
	11022958-A-G						***
4587293-AT-A	4719252-AT-A				10×T	***
21054193-C-A	18892307-C-A						***
	10918190-G-T						***
4561207-C-A	4693166-C-A						***
14529182-C-A	12417383-C-A		FT153782				***
16246052-A-G	14134172-A-G						***
7867879-GGAAAGAAAGAAA-G,GGAAAGAAAGAAAGAAAGAAA	7999838-GGAAAGAAAGAAA-G,GGAAAGAAAGAAAGAAAGAAA				16×GAAA		***
	10691374-TTCCA-T,TACCA						***
15635817-C-A	13523937-C-A						***
4889320-G-T	5021279-G-T						***
6427607-C-A	6559566-C-A						***
6676083-C-T	6808042-C-T						***
6693723-C-A	6825682-C-A						***
6918041-C-A	7050000-C-A						***
7165250-C-A	7297209-C-A						***
8399087-C-A	8531046-C-A						***
8546595-G-T	8678554-G-T						***
8704402-C-A	8836361-C-A						***
9385058-C-A	9547449-C-A						***
9516738-GTT-G	9679129-GTT-G				12×T		***
	10756895-C-A						***
	10845698-T-A,C						***
	10941996-G-T						***
	10942997-G-A						***
	11033158-C-CCCTGCACTCAGATTG						***
	11033174-A-T						***
	11035322-C-T						***
13273155-A-G	11117479-A-G						***
13600920-G-A	11445244-G-A		BY12539				***
13645556-G-A	11489880-G-A		BY86856				***
14784384-C-A	12672454-C-A						***
14885479-C-A	12773545-C-A						***
15175880-C-A	13063966-C-A						***
15258351-A-G	13146435-A-G						***
15280116-C-A	13168215-C-A		FT149264				***
15434583-C-A	13322703-C-A						***
15882429-GTT-G	13770549-GTT-G				13×T		***
16524096-C-A	14412216-C-A						***
16531083-CAAAA-C,CAAAAA	14419203-CAAAA-C,CAAAAA				24×A		***
16568253-G-T	14456373-G-T						***
16704279-G-T	14592399-G-T						***
16747264-GA-G	14635384-GA-G						***
17018822-C-T	14906942-C-T						***
17426011-CCTTTT-C,CCTTTTCTTTTCTTTT	15314131-CCTTTT-C,CCTTTTCTTTTCTTTT				11×CTTTT		***
17714395-G-T	15602515-G-T						***
17866687-C-A	15754807-C-A						***
18003890-C-G	15892010-C-G			P7_Gap			***
18412869-C-A	16300989-C-A			P6_Gap			***
18424942-G-A	16313062-G-A			P6_Gap			***
19043957-C-A	16932077-C-A						***
19300721-G-T	17188841-G-T						***
19558017-C-A	17446137-C-A						***
21219615-C-T	19057729-C-T		FGC63479				***
21306036-C-A	19144150-C-A		Y28211				***
21919302-G-T	19757416-G-T						***
21939477-C-A	19777591-C-A						***
22204494-C-A	20042608-C-A						***
22791777-C-A	20629891-C-A						***
24462552-C-A	22316405-C-A						***
	56826473-G-T						***
19187446-CTTTT-C,CTT	17075566-CTTTT-C,CTT				34×T	***
13459290-C-T	11303614-C-T					***
13482146-G-A	11326470-G-A					***
2824726-A-ACC	2956685-A-ACC				10×C	***
8296248-G-T	8428207-G-T					***
	10851768-C-T					***
13470206-C-A	11314530-C-A					***
13535651-ATATATATATATATATATATATATATATATA-A,ATATATATATATATATATATATATATATATATATG	11379975-ATATATATATATATATATATATATATATATA-A,ATATATATATATATATATATATATATATATATATG					***
16364058-CTATATATATATATATATA-C	14252178-CTATATATATATATATATA-C				27×TA	***
17527438-GTATATATATA-G,GTATATATATATA	15415558-GTATATATATA-G,GTATATATATATA				18×TA	***
18846011-CAAAAAAA-C,CAAAAA	16734131-CAAAAAAA-C,CAAAAA				25×A	***
22480373-G-A	20318487-G-A			DYZ19		***
	56828493-C-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.

O'Dochartaigh

Tree Position

Unique Mutations