Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > Z39589

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 STRFTDNA
38226
BigY2
38226
Manual
Edits
19793454-G-C 17681574-G-C P5_Prx ***A*
22274651-A-T 20112765-A-T DYZ19 A*
22282470-A-C 20120584-A-C DYZ19 A*
26083913-A-G 23937766-A-G P1_Y1 ***A*
20717299-G-A 18555413-G-A P4_Prx ***A*
6150345-T-G 6282304-T-G IR3_Dst ***A*
22232140-G-T 20070254-G-T DYZ19 ***A*
19577740-T-C 17465860-T-C P5_Prx Y***A*
19628404-C-G 17516524-C-G P5_Prx ***A*
19238917-CTTA-C 17127037-CTTA-C ++
23784952-T-C 21623066-T-C Y++
19036897-A-AT 16925017-A-AT ++
18088889-A-T 15977009-A-T Y73030 Y**+
16479509-T-C 14367629-T-C Y69980 YY++
15577285-T-C 13465405-T-C Y68490 YY++
15518329-C-G 13406449-C-G Y68383 YY++
15446567-T-A 13334687-T-A Y68250 YY++
17094181-T-C 14982301-T-C Y71058 YY++
21443832-T-G 19281946-T-G Y76492 YY++
14139996-A-G 12019290-A-G Y66023 YY++
22239185-C-G 20077299-C-G DYZ19 ++
22519392-TTAATC-T 20357506-TTAATC-T ++
22552843-C-G 20390957-C-G Y78196 YY++
22759856-G-A 20597970-G-A Y78613 YY++
23562768-C-A 21400882-C-A Y80088 YY++
23881226-G-C 21719340-G-C Y+
13412191-T-C 11256515-T-C +
13459366-C-T 11303690-C-T Z46036 +
13481521-T-A 11325845-T-A +
14309159-A-G 12188453-A-G Y66438 YY++
19032553-T-C 16920673-T-C Y74466 YY++
13677624-G-A 11521948-G-A ++
7750374-C-T 7882333-C-T Y62501 YY++
18395723-T-A 16283843-T-A BY31276 P6_Gap 27×TA**+
15915870-C-T 13803990-C-T Y69107 YY++
6962541-C-T 7094500-C-T Y61309 YY++
7581286-T-C 7713245-T-C Y62189 YY++
7623137-C-G 7755096-C-G Y62261 YY++
18959330-G-A 16847450-G-A Y74344 YY++
7927844-G-A 8059803-G-A Y62830 YY++
8360681-G-C 8492640-G-C Y63582 YY++
8482913-C-T 8614872-C-T Y63878 YY++
8617881-T-G 8749840-T-G Y64211 YY++
8224155-A-AAAATAAAT 8356114-A-AAAATAAAT 11×AAAT****
16270327-C-A 14158447-C-A **
14711935-C-A 12600002-C-A **
17218157-C-A 15106277-C-A **
15047860-C-A 12935951-C-A **
14965405-C-A 12853480-C-A **
14784899-G-T 12672969-G-T **
17222638-C-A 15110758-C-A **
14757908-C-A 12645977-C-A **
14506731-C-A 12394936-C-A **
14589036-G-T 12477236-G-T **
14539211-A-G 12427412-A-G **
17048091-T-A 14936211-T-A **
14482189-G-T 12361458-G-T **
14470752-C-A 12350021-C-A **
16228097-G-A 14116217-G-A **
14430280-T-C 12309553-T-C **
14384962-T-C 12264258-T-C **
17104126-T-C 14992246-T-C **
15193551-C-T 13081637-C-T **
15142065-C-A 13030152-C-A **
15777015-C-A 13665135-C-A **
14295650-C-A 12174944-C-A **
16272164-C-T 14160284-C-T **
16297241-T-A 14185361-T-A **
16422535-A-G 14310655-A-G **
16466823-A-G 14354943-A-G **
16702903-A-G 14591023-A-G **
15792962-C-T 13681082-C-T **
16703999-GA-G 14592119-GA-G **
15833987-C-A 13722107-C-A **
15732667-A-T 13620787-A-T **
15712385-T-C 13600505-T-C **
15248239-C-A 13136325-C-A **
15239609-C-A 13127695-C-A **
16044307-C-A 13932427-C-A **
16847559-G-A 14735679-G-A **
16859346-C-A 14747466-C-A **
16987774-T-C 14875894-T-C **
14379089-C-A 12258385-C-A **
56851886-G-T **
14251091-A-T 12130385-A-T **
9094569-T-C 9256960-T-C **
10769841-C-T **
10654590-A-C **
10652382-A-T **
10647870-C-A **
9979223-C-A 10141614-C-A **
9427634-G-T 9590025-G-T **
9424530-C-T 9586921-C-T **
9015253-C-T 9177644-C-T **
10881007-C-A **
9108558-G-T **
8878977-A-G 9010936-A-G **
8822607-T-C 8954566-T-C **
8817019-G-A 8948978-G-A **
8092692-T-C 8224651-T-C **
7969732-G-T 8101691-G-T **
7752974-C-A 7884933-C-A **
10873786-C-A **
10920950-C-A **
14204974-C-A 12084268-C-A **
13878533-A-G 11757827-A-G **
14168204-T-C 12047498-T-C **
14097954-T-TC 11977248-T-TC **
14077916-G-A 11957210-G-A **
14065553-C-A 11944847-C-A **
14042593-C-A 11921887-C-A **
13994980-A-G 11874274-A-G **
13961624-C-T 11840918-C-T **
13855537-AATG-A 11734831-AATG-A **
10943882-C-A **
11655346-G-A **
13671416-G-C 11515740-G-C **
13543187-C-A 11387511-C-A **
17366805-G-A 15254925-G-A **
13350653-A-G 11194977-A-G **
13224490-A-G 11068814-A-G **
11020276-C-A **
10950684-C-A **
17346414-C-A 15234534-C-A **
19056352-CA-C 16944472-CA-C **
17450084-G-A 15338204-G-A **
23459684-T-A 21297798-T-A **
24885744-C-G 22739597-C-G g1 **
24001289-G-T 21855142-G-T **
23965799-C-A 21819652-C-A **
23789346-T-C 21627460-T-C **
23512311-TA-T 21350425-TA-T **
23512309-C-T 21350423-C-T **
23512305-G-T 21350419-G-T **
23176860-T-C 21014974-T-C **
26236006-T-C 24089859-T-C P1_Y1 **
23111797-C-A 20949911-C-A **
23065255-G-T 20903369-G-T **
23005287-G-A 20843401-G-A **
22983798-C-A 20821912-C-A **
22851379-T-A 20689493-T-A **
22798723-C-A 20636837-C-A **
22629682-C-A 20467796-C-A **
22624429-C-A 20462543-C-A **
26089983-G-A 23943836-G-A P1_Y1 **
26242483-C-A 24096336-C-A P1_Y1 **
22146383-C-A 19984497-C-A **
28720813-T-C 26574666-T-C **
28803683-A-T 26657536-A-T **
28803660-GGAA-G 26657513-GGAA-G **
28803657-A-ATTC 26657510-A-ATTC **
28800241-G-A 26654094-G-A **
28782996-C-A 26636849-C-A **
28776340-G-A 26630193-G-A **
28776237-C-A 26630090-C-A **
28611596-C-A 26465449-C-A **
27727508-T-TTCC 25581361-T-TTCC P1_Y2 **
28608276-C-A 26462129-C-A **
28555759-C-A 26409612-C-A **
28547462-G-A 26401315-G-A **
28542423-A-T 26396276-A-T **
28532620-C-A 26386473-C-A **
28499947-C-T 26353800-C-T **
28464581-C-A 26318434-C-A **
27889300-T-TAC 25743153-T-TAC P1_Y2 **
22252123-T-C 20090237-T-C DYZ19 **
22088663-G-A 19926777-G-A **
17489788-C-T 15377908-C-T **
18462539-A-G 16350659-A-G P6_Dst **
18966121-C-T 16854241-C-T 4×TCCT**
18931726-C-T 16819846-C-T **
18838849-A-G 16726969-A-G **
18753022-C-A 16641142-C-A **
18660098-TATATAA-T 16548218-TATATAA-T **
18631049-T-C 16519169-T-C **
18531000-C-A 16419120-C-A P6_Dst **
18454964-T-C 16343084-T-C P6_Dst **
7613865-G-A 7745824-G-A **
18317409-T-C 16205529-T-C P6_Prx **
18256164-A-G 16144284-A-G **
18224009-C-T 16112129-C-T **
18190195-C-A 16078315-C-A **
18035865-A-G 15923985-A-G **
17951521-C-A 15839641-C-A **
17884730-G-A 15772850-G-A **
17638300-C-A 15526420-C-A **
18983983-C-A 16872103-C-A **
19104582-T-C 16992702-T-C **
21806923-G-C 19645037-G-C **
21202554-C-A 19040668-C-A **
21444605-C-T 19282719-C-T **
21438246-C-A 19276360-C-A **
21435363-T-C 19273477-T-C **
21368749-C-T 19206863-C-T **
21353216-C-A 19191330-C-A **
21328754-CG-C 19166868-CG-C **
21299338-G-A 19137452-G-A **
21234867-T-C 19072981-T-C **
21141157-CA-C 18979271-CA-C **
19213906-C-A 17102026-C-A **
21093495-C-A 18931609-C-A **
21014328-A-AC 18852442-A-AC P4_Dst **
20774920-CTG-C 18613034-CTG-C P4_Prx **
19709709-CAAAA-C 17597829-CAAAA-C P5_Prx 29×A**
19532515-T-C 17420635-T-C **
19416477-GA-G 17304597-GA-G **
19377226-G-C 17265346-G-C **
19329298-C-A 17217418-C-A **
7717538-A-G 7849497-A-G Y62438 **
7235229-C-A 7367188-C-A **
7433476-C-A 7565435-C-A **
6384506-G-T 6516465-G-T **
10770657-G-C **
23522582-C-A 21360696-C-A **
5824139-C-A 5956098-C-A **
14115019-C-A 11994313-C-A Y90349 **
18174519-C-A 16062639-C-A **
28553985-T-C 26407838-T-C **
19218086-C-A 17106206-C-A **
24124353-C-A 21978206-C-A P3_b1 **
56833149-T-C **
19449141-C-A 17337261-C-A **
13466263-C-T 11310587-C-T **
25899939-C-A 23753792-C-A P1_Y1 **
3093690-A-G 3225649-A-G **
21141225-C-A 18979339-C-A **
16964080-C-A 14852200-C-A **
10770622-C-CCAATCCATTT **
9440291-C-A 9602682-C-A **
21895578-T-G 19733692-T-G **
7204898-AT-A 7336857-AT-A **
7374509-C-A 7506468-C-A **
16032262-A-T 13920382-A-T **
6028305-C-A 6160264-C-A **
10654575-A-T **
10654598-C-G **
14143428-C-A 12022722-C-A **
10770635-T-G **
20793458-A-AT 18631572-A-AT P4_Prx **
10958350-A-ATGTCG **
16723585-C-A 14611705-C-A **
7281720-C-A 7413679-C-A **
10693341-C-A **
7308412-C-A 7440371-C-A **
15648042-C-A 13536162-C-A **
10935529-C-T **
2855467-ATTT-A 2987426-ATTT-A 16×T**
7989269-C-A 8121228-C-A **
7832075-T-G 7964034-T-G *****
13317280-C-A 11161604-C-A **
15059749-C-T 12947841-C-T **
13200379-C-A 11044703-C-A **
10912530-C-A **
5313473-TTCTTCC-T 5445432-TTCTTCC-T **
18261875-AATTAT-A 16149995-AATTAT-A ****
27733707-T-A 25587560-T-A P1_Y2 **
15177843-C-A 13065929-C-A **
14295275-C-A 12174569-C-A **
13900182-C-A 11779476-C-A **
6698831-TG-T 6830790-TG-T **
16533515-CAT-C 14421635-CAT-C **
5522180-A-C 5654139-A-C **
16533538-CAT-C 14421658-CAT-C **
7464034-T-A 7595993-T-A IR1_L **
16720030-C-A 14608150-C-A **
10765679-C-T **
9997869-C-A 10160260-C-A **
20700680-CA-C 18538794-CA-C P4_Prx **
14351151-C-A 12230446-C-A **
16522346-C-A 14410466-C-A **
10873650-C-A **
2969326-C-A 3101285-C-A **
17074637-GTT-G 14962757-GTT-G 34×T**
10654586-T-A **
7134211-C-A 7266170-C-A **
14295163-C-T 12174457-C-T 13×T**
10651642-G-T **
21435297-C-A 19273411-C-A **
10821963-A-T **
16297356-TA-T 14185476-TA-T **
11647111-C-A **
56838636-C-A **
21195822-C-A 19033936-C-A **
10657410-C-A **
5780056-T-A 5912015-T-A **
5216260-C-A 5348219-C-A **
4064342-GT-G 4196301-GT-G **
4229175-C-A 4361134-C-A **
4244460-CTCTTTGAAAATACCTCATACA-C 4376419-CTCTTTGAAAATACCTCATACA-C **
4309847-A-G 4441806-A-G **
4443359-G-A 4575318-G-A **
4488327-G-GA 4620286-G-GA 10×A**
7169816-C-A 7301775-C-A **
4616170-A-G 4748129-A-G **
7154679-C-A 7286638-C-A **
4897462-G-T 5029421-G-T **
7127230-C-A 7259189-C-A **
4951456-C-A 5083415-C-A **
5190298-C-A 5322257-C-A **
5294496-C-T 5426455-C-T **
3818196-C-A 3950155-C-A **
5461176-A-G 5593135-A-G **
5512616-T-G 5644575-T-G **
5709943-A-T 5841902-A-T **
6080345-T-C 6212304-T-C **
6464885-A-G 6596844-A-G **
6475538-T-C 6607497-T-C **
6646076-A-G 6778035-A-G **
6709036-C-A 6840995-C-A **
6926297-G-A 7058256-G-A **
6952892-G-A 7084851-G-A **
6954862-A-G 7086821-A-G **
6955084-T-TTA 7087043-T-TTA **
6955099-A-TATATT 7087058-A-TATATT **
7044498-A-G 7176457-A-G **
3975457-C-A 4107416-C-A **
4584118-C-A 4716077-C-A **
3058505-C-A 3190464-C-A **
7235920-C-A 7367879-C-A **
2885663-C-A 3017622-C-A **
3045404-C-T 3177363-C-T **
3550645-C-T 3682604-C-T **
3674809-C-A 3806768-C-A **
3093153-G-GT 3225112-G-GT **
3116013-A-T 3247972-A-T **
3241618-G-T 3373577-G-T **
3286375-T-C 3418334-T-C **
3345577-C-A 3477536-C-A **
27562189-C-A 25416042-C-A P1_Y2 **
3436371-C-A 3568330-C-A **
19109975-C-A 16998095-C-A Y74661 **
7215219-A-G 7347178-A-G **
3626950-G-T 3758909-G-T **
3603351-A-C 3735310-A-C **
3506740-G-T 3638699-G-T **
3413943-C-A 3545902-C-A **
14363474-C-A 12242769-C-A **
13226392-C-A 11070716-C-A **
2688735-C-A 2820694-C-A **
56828927-TC-T ***
23745589-A-T 21583703-A-T ***
23630205-G-T 21468319-G-T ***
24076028-T-C 21929881-T-C P3_b1 ***
23482894-CAAA-C,CAAAAA 21321008-CAAA-C,CAAAAA 15×A***
56828734-C-A,G ***
22310789-C-T 20148903-C-T DYZ19 ***
24968134-C-T 22821987-C-T g1 ***
56828931-TTCCATTCCATTCCATTCCA-T ***
23702617-G-A 21540731-G-A ***
22344261-G-T 20182375-G-T DYZ19 ***
24112502-T-A 21966355-T-A P3_b1 ***
13808755-G-C 11688049-G-C BY30153 ***
22286112-G-T 20124226-G-T DYZ19 ***
22233399-T-A 20071513-T-A DYZ19 ***
22258873-G-A 20096987-G-A DYZ19 ***
10024312-CCTGT-C 10186703-CCTGT-C 4×CTGT***
8555772-C-A 8687731-C-A ***
7228789-C-A 7360748-C-A ***
25154523-G-T 23008376-G-T g1 ***
28550044-G-T 26403897-G-T ***
7426194-TAC-T 7558153-TAC-T ***
26146310-C-T 24000163-C-T P1_Y1 ***
25803033-C-A 23656886-C-A P1_b3 ***
8840734-ACAATCTG-A 8972693-ACAATCTG-A ***
4129645-CAT-C 4261604-CAT-C ***
9373366-G-T 9535757-G-T ***
13496566-C-T 11340890-C-T ***
22233382-C-A 20071496-C-A DYZ19 ***
7411520-C-A 7543479-C-A ***
22233398-A-T 20071512-A-T DYZ19 ***
22259411-G-T 20097525-G-T DYZ19 ***
25016774-C-A 22870627-C-A g1 ***
15200183-T-A 13088269-T-A ***
25824897-G-A 23678750-G-A P1_b3 ***
14301862-A-G 12181156-A-G ***
13489829-G-C 11334153-G-C ***
13584363-C-A 11428687-C-A ***
13489811-A-G 11334135-A-G ***
56833132-A-G ***
5022195-C-A 5154154-C-A ***
17637672-CA-C 15525792-CA-C ***
7426208-C-A 7558167-C-A ***
56858375-AG-A,AGAAAGAAAGAAAG ***
10999854-C-A ***
17046317-C-A 14934437-C-A ***
13503515-A-G 11347839-A-G FGC33904 ***
14368544-A-G 12247840-A-G ***
16290775-GTATATA-G,GTA 14178895-GTATATA-G,GTA 19×TA***
10748329-TTCCAC-T ***
15424313-GA-G,GAA 13312433-GA-G,GAA 14×A***
15200182-T-G 13088268-T-G ***
13489827-A-T 11334151-A-T ***
13487559-C-A 11331883-C-A ***
26235176-A-C 24089029-A-C P1_Y1 ***
10746973-C-CATTCT ***
23343498-C-CT 21181612-C-CT 10×T***
14771126-CTTTTT-C 12659195-CTTTTT-C 16×T***
13489630-CACCCAC-C,CACCCCA 11333954-CACCCAC-C,CACCCCA ***
5191228-CTTT-C 5323187-CTTT-C 27×T***
21912017-A-G 19750131-A-G ***
11020249-A-T ***
10673905-T-C,G ***
9811215-G-T 9973606-G-T ***
13477511-A-G 11321835-A-G ***
14735172-C-A 12623240-C-A ***
10791206-C-A ***
15200199-C-T 13088285-C-T ***
21138628-G-T 18976742-G-T ***
20640260-C-T 18478374-C-T P4_Prx ***
4951359-C-A 5083318-C-A ***
13470103-G-T 11314427-G-T ***
13823214-A-G 11702508-A-G ***

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.

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