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	FGC QC1R7
3512246-T-C	3644205-T-C		FGC5330					+
3982069-A-G	4114028-A-G		FGC5332					+
4024826-A-C	4156785-A-C		FGC5333					+
5315550-T-C	5447509-T-C		FGC5334					+
6401609-C-T	6533568-C-T		FGC5336					+
6696148-T-C	6828107-T-C		FGC5337		Y	Y		+
7501365-C-T	7633324-C-T		FGC5340	IR1_L				+
7773447-C-T	7905406-C-T		FGC5341		Y	Y		+
7917598-C-T	8049557-C-T		FGC5342		Y			+
8079769-C-T	8211728-C-T		FGC5343		Y	Y		+
8354795-T-C	8486754-T-C		FGC5344		Y	Y		+
8379057-C-A	8511016-C-A		FGC5345		Y	Y		+
8523475-C-T	8655434-C-T		FGC5346		Y	Y		+
8632571-C-G	8764530-C-G		PF7600		Y	Y		+
8698781-T-G	8830740-T-G		FGC5347		Y	Y		+
8744425-G-T	8876384-G-T		FGC5348		Y	Y		+
10062214-G-A	10224605-G-A		FGC5350					+
13136520-A-G	10626006-A-G		FGC5351					+
14113799-A-C	11993093-A-C		FGC5352		Y			+
14203180-A-T	12082474-A-T		FGC5353		Y	Y		+
14384421-C-T	12263717-C-T		FGC5354 Y36466		Y			+
14446883-C-A	12326156-C-A		FGC5355		Y			+
14915734-C-T	12803801-C-T		FGC5356 Y36467		Y	Y		+
14946001-T-C	12834075-T-C		FGC5357		Y	Y		+
15748930-G-C	13637050-G-C		FGC5358		Y			+
15911088-T-G	13799208-T-G		FGC5359		Y	Y		+
16821239-C-G	14709359-C-G		FGC5360		Y	Y		+
16911453-C-T	14799573-C-T		FGC5361		Y	Y		+
17000378-C-T	14888498-C-T		FGC5362		Y			+
17006871-G-C	14894991-G-C		FGC5363		Y	Y		+
17425034-T-C	15313154-T-C		FGC5365		Y	Y		+
17603265-A-G	15491385-A-G		FGC5366		Y	Y		+
17674043-C-T	15562163-C-T		FGC5367 Y36468		Y	Y		+
17740030-A-C	15628150-A-C		FGC5368		Y	Y		+
17936315-G-T	15824435-G-T		FGC5369		Y	Y		+
17979365-G-A	15867485-G-A		FGC5370		Y			+
18093388-A-T	15981508-A-T		FGC5371		Y	Y		+
22436950-C-T	20275064-C-T		FGC5373	DYZ19				+
22485853-G-T	20323967-G-T		FGC5375	DYZ19				+
23032505-T-C	20870619-T-C		FGC5376		Y	Y		+
23400221-T-C	21238335-T-C		FGC5377		Y			+
23869526-T-C	21707640-T-C		FGC5378			Y		+
21501940-GT-G	19340054-GT-G							+
22698749-AT-A	20536863-AT-A							+
21551714-CATAT-C	19389828-CATAT-C							*
3564824-G-C	3696783-G-C		FGC5331					*
5960316-A-G	6092275-A-G		FGC5335					*
6869468-G-C	7001427-G-C		FGC5338 Y36465		Y	Y		*
7086664-T-C	7218623-T-C		FGC5339		Y	Y		*
9708890-G-A	9871281-G-A		FGC5349	IR3_Prx				*
14737560-T-C	12625628-T-C		FGC7989		Y			*
18793255-G-A	16681375-G-A		FGC5372		Y	Y		*
22475690-G-T	20313804-G-T		FGC5374	DYZ19				*
22428338-G-C	20266452-G-C			DYZ19				**
6093471-G-A	6225430-G-A							**
13419135-A-G	11263459-A-G							**
58844010-G-C	56746861-C-G							**
13417550-T-C	11261874-T-C		Z12234					**
3374048-CATAAAATAAA-C	3506007-CATAAAATAAA-C						10×ATAAA	**
13419165-G-GA	11263489-G-GA						8×A	**
9700780-C-CAAAA	9863171-C-CAAAA			IR3_Prx			23×A	**
22428345-C-A	20266459-C-A			DYZ19				**
9735605-G-GTTTTT	9897996-G-GTTTTT			IR3_Prx			30×T	**
13717605-C-G	11561929-C-G		F18233					**
18643392-GACAC-G	16531512-GACAC-G						16×AC	**
13714756-C-CGAACG	11559080-C-CGAACG							**
9342865-T-TG	9505256-T-TG							**
5241238-CTTTT-C	5373197-CTTTT-C						15×T	**
3373983-T-C	3505942-T-C		FT341044					**
4283106-T-C	4415065-T-C		FGC78569					**
5260271-C-T	5392230-C-T							**
5260275-T-G	5392234-T-G							**
6214047-C-G	6346006-C-G			IR3_Dst				**
7023657-A-T	7155616-A-T							**
7297817-C-T	7429776-C-T		Y83837					**
8322030-A-G	8453989-A-G							**
9492500-A-G	9654891-A-G							**
13716719-A-C	11561043-A-C							**
13716746-G-C	11561070-G-C							**
13716751-C-G	11561075-C-G							**
14795508-G-C	12683579-G-C		Y92218					**
14795549-G-C	12683620-G-C		Y92219					**
16519280-A-G	14407400-A-G							**
17748826-A-G	15636946-A-G		FT337648					**
18129140-T-A	16017260-T-A		Y101413					**
22270461-G-C	20108575-G-C		BY214999	DYZ19				**
22438401-G-T	20276515-G-T			DYZ19				**
22488333-G-A	20326447-G-A			DYZ19				**
26123669-C-T	23977522-C-T			P1_Y1				**
27334917-C-T	25188770-C-T			P1_g3				**
15420132-C-CAAAAAAA	13308252-C-CAAAAAAA						18×A	**
20252796-C-CAAAAAAAAA	18090910-C-CAAAAAAAAA			P5_Dst			24×A	**
23036678-CAAAAAAAAA-C	20874792-CAAAAAAAAA-C						21×A	**
23317649-C-CTTTT	21155763-C-CTTTT						37×T	**
22503403-C-G	20341517-C-G			DYZ19				***
28586585-C-A	26440438-C-A							***
22326435-T-A	20164549-T-A			DYZ19				***
13717326-GAATGGAATTA-G	11561650-GAATGGAATTA-G							***
13716804-G-A	11561128-G-A	S5456 A10321	Z17571					***
13716806-T-G	11561130-T-G	S5456	Z17572					***
22326461-G-C	20164575-G-C			DYZ19				***
13124959-A-G	10614445-A-G							***
22491685-C-G	20329799-C-G			DYZ19				***
22231993-A-T	20070107-A-T			DYZ19				***
22252712-G-T	20090826-G-T			DYZ19				***
22252716-G-C	20090830-G-C			DYZ19				***
22268293-A-G	20106407-A-G			DYZ19				***
22326470-A-G	20164584-A-G			DYZ19				***
58820351-T-C	56770520-A-G							***
58885329-T-C	56705542-A-G							***
58885346-C-T	56705525-G-A							***
58885501-A-G	56705370-T-C							***
22361037-GT-AC	20199151-GT-AC			DYZ19				***
22495772-A-AC	20333886-A-AC			DYZ19				***
58885303-TT-CA	56705567-AA-TG							***
58987211-ATCAC-TTCAT	56841064-ATCAC-TTCAT							***
19646325-G-T	17534445-G-T			P5_Prx				***
22311188-T-C	20149302-T-C		FT90099	DYZ19				***
58848367-G-C	56742504-C-G							***
9953788-AT-GC	10116179-AT-GC							***
22113187-C-CAAAAA	19951301-C-CAAAAA						23×A	***
22341240-TAGAGTTTGTTCC-CATTGTGTCCTCG	20179354-TAGAGTTTGTTCC-CATTGTGTCCTCG			DYZ19				***
22341613-ACAGA-CCAGC	20179727-ACAGA-CCAGC			DYZ19				***
58836198-GTTCGATTCCCTTCCA-G	56754648-TGGAATCGAATGGAAG-T							***
22248431-C-T	20086545-C-T			DYZ19				***
22252800-C-G	20090914-C-G			DYZ19				***
22252803-T-C	20090917-T-C			DYZ19				***
22252915-T-A	20091029-T-A			DYZ19				***
22268297-G-T	20106411-G-T			DYZ19				***
22282202-C-T	20120316-C-T			DYZ19				***
58863395-T-C	56727476-A-G							***
58836697-AATTGCATTCCATTAG-A	56754155-GAATCTAATGGAATGC-G							***
22236443-C-G	20074557-C-G			DYZ19				***
22420975-C-G	20259089-C-G			DYZ19				***
22488459-T-C	20326573-T-C			DYZ19				***
18297876-C-CTTTTT	16185996-C-CTTTTT			P6_Prx			31×T	***
22367929-CATG-GATT	20206043-CATG-GATT			DYZ19				***
22420995-TG-AT	20259109-TG-AT			DYZ19				***
20541573-T-C	18379687-T-C			P5_Dst				***
22344756-C-T	20182870-C-T			DYZ19				***
58844807-A-T	56746064-T-A							***
13465743-TTCCT-GTCCC	11310067-TTCCT-GTCCC							***
22236528-TA-AT	20074642-TA-AT			DYZ19				***
22360164-C-CCTCG	20198278-C-CCTCG			DYZ19				***
20541578-T-C	18379692-T-C			P5_Dst				***
22268217-T-A	20106331-T-A			DYZ19				***
13414797-A-ATCTT	11259121-A-ATCTT						20×T	***
22249323-TC-AT	20087437-TC-AT			DYZ19				***
22495767-GC-A	20333881-GC-A			DYZ19				***
18403055-G-A	16291175-G-A			P6_Gap				***
22231844-A-C	20069958-A-C			DYZ19				***
22231847-T-G	20069961-T-G			DYZ19				***
22361637-T-G	20199751-T-G			DYZ19				***
22421324-T-C	20259438-T-C			DYZ19				***
58890426-G-C	56700445-C-G							***
22421286-GAAC-TTACA	20259400-GAAC-TTACA			DYZ19				***
22421293-AGAA-GGAG	20259407-AGAA-GGAG			DYZ19				***
22421312-TTAC-CAGT	20259426-TTAC-CAGT			DYZ19				***
22421360-CC-AT	20259474-CC-AT			DYZ19				***
58912945-GGC-TGT	56677924-GCC-ACA							***
13463425-T-C	11307749-T-C							***
22481323-A-T	20319437-A-T			DYZ19				***
8964954-N-T	9096913-N-T							***
22502594-T-C	20340708-T-C			DYZ19				***
26499948-G-T	24353801-G-T			P1_Y1				***
58837044-T-G	56753827-A-C							***
58843764-AGATTCCATTCCGTAC-A	56747080-AGGAATGGAATCGTAC-A							***
26508346-C-T	24362199-C-T			P1_Y1				***
27423537-A-T	25277390-A-T			P1_g3				***
22421463-AC-GG	20259577-AC-GG			DYZ19				***
22289787-T-G	20127901-T-G			DYZ19				***
22289732-GTC-ATA	20127846-GTC-ATA			DYZ19				***
19187385-A-ATTTTTT	17075505-A-ATTTTTT						28×T	***
13716904-T-A	11561228-T-A							***
22236494-G-T	20074608-G-T			DYZ19				***
22355186-G-A	20193300-G-A			DYZ19				***
10029163-A-G	10191554-A-G							***
19646345-G-A	17534465-G-A			P5_Prx				***
22293063-AC-CA	20131177-AC-CA			DYZ19				***
13714159-C-G	11558483-C-G							***
58909249-T-C	56681622-A-G							***
13716528-G-GA	11560852-G-GA							***
58909204-G-C	56681667-C-G							***
22293051-A-T	20131165-A-T			DYZ19				***
24386278-TTA-T	22240131-TTA-T							***
13734057-G-C	11578381-G-C							***
22249416-T-C	20087530-T-C			DYZ19				***
22504798-A-C	20342912-A-C			DYZ19				***
22337744-TTGA-CTGG	20175858-TTGA-CTGG			DYZ19				***
19646334-T-C	17534454-T-C			P5_Prx				***
19646363-C-G	17534483-C-G			P5_Prx				***
19646367-G-T	17534487-G-T			P5_Prx				***
8160178-C-CAAAAAAA	8292137-C-CAAAAAAA						20×A	***
58868394-TTCCATTCCGTGGCTG-T	56722453-TGGAATGGACAGCCAC-T							***
27462492-C-A	25316345-C-A			P1_Y2				***
20420960-TAA-T	18259074-TAA-T			P5_Dst			17×A	***
58850963-T-G	56739908-A-C							***
16641870-TAC-T	14529990-TAC-T							***
6003909-A-C	6135868-A-C							***
13713149-AAGTGGAATGGCATCG-A	11557473-AAGTGGAATGGCATCG-A							***
13715245-T-C	11559569-T-C		FT449495					***
18454876-TTTCC-T	16342996-TTTCC-T			P6_Dst				***
19073865-TATATAC-T	16961985-TATATAC-T							***
13716502-A-G	11560826-A-G							***
13716519-C-A	11560843-C-A							***
22481563-GCAGT-ACAGC	20319677-GCAGT-ACAGC			DYZ19				***
22481617-T-A	20319731-T-A			DYZ19				***
20025431-TC-CT	17913551-TC-CT			P5_Prx				***
13717777-GTCA-CTCG	11562101-GTCA-CTCG							***
4021912-C-T	4153871-C-T							***
13428089-C-T	11272413-C-T							***
13485386-G-T	11329710-G-T							***
13716895-C-T	11561219-C-T		BY211325 FGC47175					***
22358647-TT-CG	20196761-TT-CG			DYZ19				***
13470216-G-A	11314540-G-A		FGC79869					***
22341174-AC-A	20179288-AC-A			DYZ19				***
22341181-CG-TT	20179295-CG-TT			DYZ19				***
22352624-G-T	20190738-G-T			DYZ19				***
22341164-G-T	20179278-G-T			DYZ19				***
22505136-G-A	20343250-G-A			DYZ19				***
3570948-G-A	3702907-G-A							***
13469493-C-A	11313817-C-A							***
6113960-T-C	6245919-T-C							***
2791494-A-T	2923453-A-T							***
3570956-G-A	3702915-G-A							***
4089459-T-C	4221418-T-C							***
4138829-A-T	4270788-A-T							***
6130584-A-G	6262543-A-G							***
6164520-A-G	6296479-A-G			IR3_Dst				***
6204461-T-A	6336420-T-A			IR3_Dst				***
9349981-G-C	9512372-G-C							***
13481147-C-A	11325471-C-A							***
13488965-G-A	11333289-G-A							***
13715539-G-T	11559863-G-T							***
13715540-T-G	11559864-T-G							***
13715546-A-T	11559870-A-T							***
13715547-G-C	11559871-G-C							***
13715687-A-T	11560011-A-T							***
13716706-G-C	11561030-G-C							***
13716764-G-C	11561088-G-C							***
13716946-T-G	11561270-T-G							***
13717210-T-G	11561534-T-G							***
13717611-A-C	11561935-A-C							***
13728337-A-G	11572661-A-G							***
13732476-T-G	11576800-T-G							***
14184472-G-A	12063766-G-A							***
17542260-T-C	15430380-T-C							***
17998844-G-A	15886964-G-A			P7_Gap				***
19270559-T-A	17158679-T-A							***
19646313-A-C	17534433-A-C			P5_Prx				***
19646319-T-C	17534439-T-C			P5_Prx				***
19953484-A-T	17841604-A-T			P5_Prx				***
20409798-C-A	18247912-C-A			P5_Dst				***
21199959-G-A	19038073-G-A							***
22235010-C-T	20073124-C-T			DYZ19				***
22297278-C-A	20135392-C-A			DYZ19				***
22361072-T-G	20199186-T-G			DYZ19				***
22364716-T-A	20202830-T-A			DYZ19				***
22436439-A-C	20274553-A-C		FT456060	DYZ19				***
22443683-C-T	20281797-C-T			DYZ19				***
22481820-G-A	20319934-G-A			DYZ19				***
22481825-G-A	20319939-G-A			DYZ19				***
22496065-A-C	20334179-A-C			DYZ19				***
22505207-G-A	20343321-G-A			DYZ19				***
25026065-G-T	22879918-G-T			g1				***
27123992-C-T	24977845-C-T			P1_g3				***
27651757-C-T	25505610-C-T			P1_Y2				***
27701895-C-A	25555748-C-A			P1_Y2				***
28117299-G-T	25971152-G-T			P1_b4				***
58857616-A-T	56733255-T-A							***
58863167-T-C	56727704-A-G							***
58885407-C-A	56705464-G-T							***
58885412-A-T	56705459-T-A							***
58885417-A-C	56705454-T-G							***
58895364-G-C	56695507-C-G							***
58908615-A-T	56682256-T-A							***
58909071-A-T	56681800-T-A							***
58916547-C-A	56674324-G-T							***
17054866-A-AATAT	14942986-A-AATAT						13×AT	***
2888870-C-CGAAAAAAA	3020829-C-CGAAAAAAA						32×A	***
3570953-TAAGTAAAC-AAAAAAAAA	3702912-TAAGTAAAC-AAAAAAAAA							***
5260271-CGTGT-TGTGG	5392230-CGTGT-TGTGG							***
5493431-C-CTTTTT	5625390-C-CTTTTT						24×T	***
6089764-G-GTTTT	6221723-G-GTTTT						31×T	***
6521551-G-GTTTT	6653510-G-GTTTT						17×T	***
7280952-C-CTTTT	7412911-C-CTTTT						26×T	***
8467821-T-TTGTG	8599780-T-TTGTG						11×TG	***
8568465-G-GTTTT	8700424-G-GTTTT						22×T	***
8575956-A-ATT	8707915-A-ATT						28×T	***
10006420-GGCAG-AGCAT	10168811-GGCAG-AGCAT							***
13470229-TGG-AGA	11314553-TGG-AGA							***
13480805-CT-GG	11325129-CT-GG							***
13484100-TGCAGAC-GGAAGAG	11328424-TGCAGAC-GGAAGAG							***
13488929-CGTGT-TGTGG	11333253-CGTGT-TGTGG							***
13535639-G-GTATA	11379963-G-GTATA						21×TA	***
13712902-AGGAA-CGGAC	11557226-AGGAA-CGGAC							***
13713471-GTG-CTC	11557795-GTG-CTC							***
13715557-AAATAATCG-A	11559881-AAATAATCG-A							***
13716587-TCCTCA-GACTGG	11560911-TCCTCA-GACTGG							***
13716751-CGA-GGAACAAT	11561075-CGA-GGAACAAT							***
13716763-AG-TAC	11561087-AG-TAC							***
13716768-AT-A	11561092-AT-A							***
13716777-TAATTG-GAATGT	11561101-TAATTG-GAATGT							***
13717595-CCAA-GCAT	11561919-CCAA-GCAT							***
15260684-C-CTTTTTTTTTT	13148768-C-CTTTTTTTTTT						25×T	***
16641872-CATATAT-C	14529992-CATATAT-C						12×AT	***
17130400-C-CTTTTTT	15018520-C-CTTTTTT						21×T	***
17275766-G-GGGAAT	15163886-G-GGGAAT							***
17317720-TCACA-T	15205840-TCACA-T						23×CA	***
18804474-A-AAGAGAACGAGGAAAG	16692594-A-AAGAGAACGAGGAAAG						26×AG	***
19437426-G-GGGGGA	17325546-G-GGGGGA							***
22234387-AGAAAGAAGA-GGAAGGTAGT	20072501-AGAAAGAAGA-GGAAGGTAGT			DYZ19				***
22252916-GGT-TGA	20091030-GGT-TGA			DYZ19				***
22341205-GTT-CTG	20179319-GTT-CTG			DYZ19				***
22358631-TTTG-CTTT	20196745-TTTG-CTTT			DYZ19				***
22361551-GTA-ATT	20199665-GTA-ATT			DYZ19				***
22361610-TACT-CACA	20199724-TACT-CACA			DYZ19				***
24614178-C-CAAAAAA	22468031-C-CAAAAAA			P3_t2			19×A	***
58840442-CTTC-GTTG	56750426-GAAG-CAAC							***
58885397-ACTCC-TATAG	56705470-GGAGT-CTATA							***
58885424-ACTAT-TCTAG	56705443-ATAGT-CTAGA							***

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.

Mutation Notes:

Kit	POSITION-REF-ALT (hg19)	POSITION-REF-ALT (hg38)	Note
Manual	18316065-A-G	16204185-A-G	Information from Richard Rocca.
Manual	18493038-T-C	16381158-T-C	Information from Richard Rocca.

Montaguti

Tree Position

Unique Mutations

Mutation Notes: