Amsden

BigY2: 684036
MDKA Birth: England

Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > Z39589 > DF41/S524

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
684036
6238085-G-C 6370044-G-C IR3_Dst A*
19851798-G-A 17739918-G-A P5_Prx A*
26075876-G-A 23929729-G-A P1_Y1 A*
19617770-C-T 17505890-C-T P5_Prx YA*
19619736-G-T 17507856-G-T P5_Prx YA*
28817814-G-C 26671667-G-C A*
19819966-G-A 17708086-G-A P5_Prx A*
19670168-G-T 17558288-G-T P5_Prx A*
19934070-C-T 17822190-C-T P5_Prx A*
25935515-C-T 23789368-C-T P1_Y1 A*
26164936-G-T 24018789-G-T P1_Y1 A*
14007857-A-G 11887151-A-G BY92286 YY+
21881415-A-AAT 19719529-A-AAT +
2874115-T-C 3006074-T-C BY56982 YY+
22239378-G-A 20077492-G-A BY39041 DYZ19 +
22443854-A-C 20281968-A-C BY6140 DYZ19 +
22474765-T-A 20312879-T-A BY39042 DYZ19 +
9741745-G-A 9904136-G-A BY39036 IR3_Prx +
19168089-C-T 17056209-C-T BY39040 Y+
9074262-C-T 9236653-C-T BY77905 Y+
8690054-A-G 8822013-A-G BY39035 YY+
18907241-TG-T 16795361-TG-T +
8552033-C-T 8683992-C-T BY73947 YY+
8663429-C-T 8795388-C-T BY39034 YY+
14777500-C-T 12665569-C-T BY97535 YY+
15810111-T-C 13698231-T-C F1993 YY+
15422630-A-G 13310750-A-G BY101490 YY+
15206531-G-A 13094617-G-A BY39037 YY+
6893143-C-T 7025102-C-T PR667 YY+
6970515-C-G 7102474-C-G BY62620 YY+
17178742-G-A 15066862-G-A FGC35429 YY+
7065551-C-T 7197510-C-T BY39032 YY+
17876668-G-A 15764788-G-A BY39038 YY+
13486226-C-G 11330550-C-G BY86165 +
17877010-A-T 15765130-A-T BY118025 YY+
14747751-C-T 12635820-C-T BY97368 YY+
17971959-G-A 15860079-G-A BY118824 YY+
7310779-G-C 7442738-G-C BY39033 Y+
18616844-C-T 16504964-C-T BY39039 YY+
8016576-T-C 8148535-T-C BY69381 YY+
8517669-G-A 8649628-G-A BY73604 YY+
13486237-T-A 11330561-T-A BY86166 +
17916703-C-A 15804823-C-A BY118409 YY+
13486219-G-A 11330543-G-A BY86164 +
22812091-T-A 20650205-T-A BY140935 YY+
23132605-A-G 20970719-A-G BY39043 YY+
13273678-C-A 11118002-C-A BY84956 +
23025732-G-C 20863846-G-C FGC72556 Y133340 YY+
23737560-A-G 21575674-A-G BY39044 +
13486249-A-C 11330573-A-C BY86168 +
8465693-C-G 8597652-C-G Z22468 YY+
22909078-T-C 20747192-T-C BY141619 YY+
28090334-T-C 25944187-T-C P1_Y2 +
22903281-G-A 20741395-G-A A18428 YY+
22319396-A-C 20157510-A-C DYZ19 *
22302002-A-C 20140116-A-C DYZ19 *
22225564-A-G 20063678-A-G DYZ19 *
13486234-C-CT 11330558-C-CT *
14712293-C-A 12600360-C-A **
10991722-T-G **
14735299-G-A 12623367-G-A **
10992588-A-C **
10992992-T-A **
11026037-C-A **
11024739-G-T **
11007519-A-T **
14627123-C-A 12515191-C-A **
11013446-C-A **
10990399-A-T **
11021847-A-T **
10976710-C-A **
10986837-CGCTCC-T **
15276683-C-A 13164772-C-A **
16181223-T-C 14069343-T-C PR2027 **
16147414-G-T 14035534-G-T P8_Dst **
16053510-C-A 13941630-C-A **
16017046-C-A 13905166-C-A **
15649955-C-A 13538075-C-A **
15576656-G-T 13464776-G-T **
10965473-T-C **
10965486-T-C **
14785007-C-T 12673077-C-T **
10965489-C-T **
10968687-C-A **
15171005-C-A 13059091-C-A **
10976657-T-TAGA **
11036200-C-A **
14986564-A-T 12874632-A-T **
14931727-C-A 12819792-C-A **
11026055-C-A **
14491376-C-A 12379573-C-A **
14563495-A-C 12451695-A-C **
11671328-A-C **
13907784-T-G 11787078-T-G **
13891491-A-T 11770785-A-T **
16245393-G-A 14133513-G-A **
13859904-CGAATGGAATG-C 11739198-CGAATGGAATG-C 4×GAATG**
13857551-G-C 11736845-G-C **
11675383-A-G **
13722779-A-G 11567103-A-G **
13938069-T-G 11817363-T-G **
13718501-G-T 11562825-G-T **
13311005-C-A 11155329-C-A **
13700732-A-C 11545056-A-C **
13623473-C-A 11467797-C-A **
13597449-T-G 11441773-T-G **
13328269-C-A 11172593-C-A **
13919685-A-G 11798979-A-G **
13941707-T-G 11821001-T-G **
14502344-C-A 12390549-C-A **
13273042-C-A 11117366-C-A **
13209428-A-C 11053752-A-C **
13217248-T-A 11061572-T-A **
13233274-G-T 11077598-G-T **
14441991-T-A 12321264-T-A **
14432130-C-A 12311403-C-A **
13258357-G-T 11102681-G-T **
14385582-G-T 12264878-G-T **
13981748-C-A 11861042-C-A **
14324441-G-A 12203735-G-A **
14245220-G-T 12124514-G-T **
14245176-G-A 12124470-G-A **
14187279-C-A 12066573-C-A **
14086309-C-A 11965603-C-A **
14055405-A-C 11934699-A-C **
13303400-T-G 11147724-T-G **
58890988-T-C 56699883-A-G **
17521370-A-C 15409490-A-C **
16322129-C-A 14210249-C-A **
22479386-TG-T 20317500-TG-T DYZ19 **
23468529-C-T 21306643-C-T **
23126635-C-A 20964749-C-A **
22988599-C-T 20826713-C-T **
22855533-C-T 20693647-C-T **
22782120-C-A 20620234-C-A **
22662463-C-A 20500577-C-A **
22650976-C-A 20489090-C-A **
22483314-C-A 20321428-C-A DYZ19 **
22425907-A-T 20264021-A-T DYZ19 **
24291343-A-C 22145196-A-C P3_t1 **
22315340-C-A 20153454-C-A DYZ19 **
22176154-G-T 20014268-G-T **
22172087-A-C 20010201-A-C **
22040912-C-A 19879026-C-A **
21990360-C-A 19828474-C-A **
21959163-A-C 19797277-A-C **
21890909-C-A 19729023-C-A **
21565819-A-G 19403933-A-G **
21556945-C-TA 19395059-C-TA **
23793306-A-C 21631420-A-C **
24407189-G-T 22261042-G-T **
21381948-C-A 19220062-C-A **
28806396-A-G 26660249-A-G **
16749-TCTTC-T **
56842259-T-C **
56842256-G-T **
56842232-G-A **
56838801-A-T **
56835935-A-C **
56756841-G-C **
28818495-C-G 26672348-C-G **
28791406-T-A 26645259-T-A **
24729738-A-C 22583591-A-C P3_b2 **
28587190-A-G 26441043-A-G **
28550810-T-G 26404663-T-G **
28484375-C-A 26338228-C-A **
28462286-C-A 26316139-C-A **
27952091-GTATATATATATATATATA-G 25805944-GTATATATATATATATATA-G P1_Y2 19×TA**
26427378-A-C 24281231-A-C P1_Y1 **
26114502-C-A 23968355-C-A P1_Y1 **
25587242-C-CTT 23441095-C-CTT P1_gr1 14×T**
24872049-T-G 22725902-T-G P3_b2 **
21409491-G-A 19247605-G-A **
21367316-C-A 19205430-C-A **
16410188-C-A 14298308-C-A **
17056528-A-C 14944648-A-C **
17923516-G-T 15811636-G-T **
17898016-C-A 15786136-C-A **
17741402-G-T 15629522-G-T **
17568361-A-C 15456481-A-C **
10951325-C-T **
17492062-C-A 15380182-C-A **
17475252-T-G 15363372-T-G **
17085721-C-CTT 14973841-C-CTT 20×T**
16931518-G-T 14819638-G-T **
18253208-C-A 16141328-C-A **
16848296-C-A 14736416-C-A **
16760159-T-G 14648279-T-G **
16738851-G-T 14626971-G-T **
16738340-T-C 14626460-T-C **
16624032-C-T 14512152-C-T **
16621467-A-C 14509587-A-C **
16463490-GA-G 14351610-GA-G **
16462775-C-A 14350895-C-A **
16421323-G-T 14309443-G-T **
18190680-T-C 16078800-T-C **
18630925-C-A 16519045-C-A **
21201788-C-A 19039902-C-A **
19537919-G-T 17426039-G-T **
20884102-A-AG 18722216-A-AG P4_Dst **
20655066-G-A 18493180-G-A P4_Prx **
20386237-GA-G 18224351-GA-G P5_Dst **
20386215-G-T 18224329-G-T P5_Dst **
20352398-T-G 18190512-T-G P5_Dst **
19948094-C-A 17836214-C-A P5_Prx **
19926941-A-T 17815061-A-T P5_Prx **
19744988-C-A 17633108-C-A P5_Prx **
19464239-T-C 17352359-T-C **
18794040-C-A 16682160-C-A **
19444865-T-C 17332985-T-C **
19299548-G-T 17187668-G-T **
19137784-C-A 17025904-C-A **
19122005-C-A 17010125-C-A **
19112373-T-A 17000493-T-A **
19001208-C-A 16889328-C-A **
18864659-C-A 16752779-C-A **
18864150-G-T 16752270-G-T **
18848061-C-T 16736181-C-T **
10958338-CCAT-C **
10949335-C-G **
10951323-C-A **
10782211-C-A **
10827530-C-A **
10851805-C-A **
21862966-C-A 19701080-C-A **
13237518-C-A 11081842-C-A **
10924360-T-A **
19122112-C-A 17010232-C-A **
20711548-G-GTT 18549662-G-GTT P4_Prx 17×T**
28520551-C-A 26374404-C-A **
6593456-C-A 6725415-C-A **
10946188-C-T **
13487606-T-C 11331930-T-C **
13597436-T-G 11441760-T-G **
7029824-C-A 7161783-C-A **
13857565-G-T 11736859-G-T **
17916541-C-A 15804661-C-A **
20778663-G-T 18616777-G-T P4_Prx **
10937536-G-T **
22068805-C-A 19906919-C-A **
11019046-C-A **
26204646-AC-A 24058499-AC-A P1_Y1 **
19071797-C-A 16959917-C-A **
10825201-G-T **
10972298-G-C **
10973247-T-G **
3814822-A-C 3946781-A-C **
4703156-G-T 4835115-G-T **
4626908-C-A 4758867-C-A **
4558113-C-A 4690072-C-A **
13486262-G-A 11330586-G-A **
4463442-C-T 4595401-C-T **
4408888-T-A 4540847-T-A **
4282064-T-C 4414023-T-C **
4214783-T-C 4346742-T-C **
4123950-G-A 4255909-G-A **
3953768-T-G 4085727-T-G **
3357983-G-T 3489942-G-T **
2683325-A-C 2815284-A-C **
3352438-A-C 3484397-A-C **
3347043-C-A 3479002-C-A **
3334329-A-C 3466288-A-C **
3284972-T-G 3416931-T-G **
3126330-G-T 3258289-G-T **
3011501-C-A 3143460-C-A **
2982983-T-A 3114942-T-A **
2982911-A-C 3114870-A-C **
2813786-G-C 2945745-G-C **
2688859-C-A 2820818-C-A **
16147491-A-AAG 14035611-A-AAG P8_Dst **
10983202-C-A **
4891770-G-T 5023729-G-T **
21624817-TG-T 19462931-TG-T **
10977054-A-T **
20622559-G-T 18460673-G-T P4_Prx **
14507768-C-A 12395973-C-A **
28791365-G-T 26645218-G-T **
17527444-ATATATATATATATATATATATATAT-A 15415564-ATATATATATATATATATATATATAT-A **
17211579-C-A 15099699-C-A **
3158901-C-A 3290860-C-A **
11024716-T-G **
11669538-C-A **
17082977-C-CCTTTCTTT 14971097-C-CCTTTCTTT 15×CTTT**
10766485-C-T **
13485422-C-G 11329746-C-G **
16665446-C-CTG 14553566-C-CTG 17×TG**
58989407-C-A 56843260-C-A **
58989375-G-T 56843228-G-T **
58989353-T-A 56843206-T-A **
58989416-G-A 56843269-G-A **
58989425-G-C 56843278-G-C **
58989402-C-A 56843255-C-A **
58989357-G-C 56843210-G-C **
5270737-G-A 5402696-G-A **
10925533-C-CTACTCCATAT **
13511659-G-T 11355983-G-T **
16662623-C-A 14550743-C-A **
15412464-C-CA 13300584-C-CA 10×A**
23773846-C-A 21611960-C-A **
13860997-G-A 11740291-G-A **
10866279-T-C **
16682697-T-G 14570817-T-G **
7200611-C-T 7332570-C-T **
10976647-T-A **
10961443-C-T **
24270935-T-G 22124788-T-G P3_b1 **
6244235-T-G 6376194-T-G IR3_Dst **
11648538-C-A **
10971052-T-C **
22040918-C-A 19879032-C-A **
10750003-A-C **
9623306-CA-C 9785697-CA-C IR3_Prx **
10866023-A-T **
10004896-A-T 10167287-A-T **
10801721-C-A **
10760284-G-C **
10925531-T-A **
10976674-C-T **
10976671-T-C **
4002301-C-A 4134260-C-A **
4734054-C-A 4866013-C-A **
4558039-C-A 4689998-C-A **
4963351-C-A 5095310-C-A **
10759038-C-T **
10785049-G-T **
10778045-C-A **
10772468-T-G **
10767720-C-T **
10767651-T-G **
10767643-C-T **
10767639-A-C **
10764124-C-A **
10761600-T-A **
10759029-TTCCGG-T **
10808419-C-A **
10753568-C-T **
10753562-T-A **
10753225-C-G **
5003590-G-T 5135549-G-T **
10693294-C-G **
10693289-A-G **
10693243-C-A **
10692152-A-C **
10682873-C-A **
10787927-C-A **
10808515-C-A **
10669453-CCAT-C **
10880468-A-C **
10939669-T-A **
10939636-C-CCATCT **
10938778-C-A **
10932271-T-A **
10930274-C-T **
10927118-C-A **
10918152-A-C **
10916544-C-A **
10889700-C-A **
10858457-CCATTT-C **
10809002-C-T **
10844588-C-A **
10842062-T-G **
10837909-AC-A **
10830884-C-A **
10827272-C-A **
10823762-C-A **
10819191-C-A **
10812277-A-C **
10810571-C-A **
10669478-CCAT-C **
10751911-T-G **
10661233-A-C **
6402578-T-C 6534537-T-C **
7172537-G-A 7304496-G-A **
7132249-G-T 7264208-G-T **
6799079-C-A 6931038-C-A **
6795353-C-T 6927312-C-T **
6765636-GTC-G 6897595-GTC-G **
6729564-C-A 6861523-C-A **
6605083-C-A 6737042-C-A **
6593454-C-A 6725413-C-A **
6358328-C-A 6490287-C-A **
7200630-G-T 7332589-G-T **
6233728-A-ACG 6365687-A-ACG IR3_Dst **
6083997-C-A 6215956-C-A **
5895312-C-A 6027271-C-A **
5558041-T-G 5690000-T-G **
5542513-C-A 5674472-C-A **
5449429-A-T 5581388-A-T **
5358950-A-C 5490909-A-C **
5021909-TCCTAAG-T 5153868-TCCTAAG-T **
7200626-A-T 7332585-A-T **
6799183-C-A 6931142-C-A **
26917-G-T **
10073230-T-A 10235621-T-A **
8988138-T-G 9150529-T-G **
9965417-G-T 10127808-G-T **
8741812-G-T 8873771-G-T **
9965808-G-A 10128199-G-A **
7704843-C-A 7836802-C-A **
10073229-A-T 10235620-A-T **
10073241-C-T 10235632-C-T **
7248409-T-G 7380368-T-G **
10654171-C-T **
7200640-A-T 7332599-A-T **
10658890-T-A **
28481206-C-A 26335059-C-A ***
24196-T-C ***
11014469-T-A ***
10899055-C-A ***
10888005-C-CTAGT ***
28791340-G-T 26645193-G-T ***
28791337-G-A 26645190-G-A F26828 ***
13862333-G-T 11741627-G-T ***
17158443-C-A 15046563-C-A ***
11014456-C-T ***
13486261-T-C 11330585-T-C ***
17637638-A-AACAC 15525758-A-AACAC 21×AC***
10669473-CCA-C ***
14735279-C-A 12623347-C-A A12788 ***
12826705-GAA-G,GAAA ***
14825824-CTTTTT-C,CTTT 12713891-CTTTTT-C,CTTT 18×T***
7299625-G-T 7431584-G-T ***
14986679-G-GCT 12874747-G-GCT ***
18993498-C-A 16881618-C-A ***
7043532-C-T 7175491-C-T ***
13721004-A-G 11565328-A-G ***
11017603-C-A ***
6795129-C-A 6927088-C-A ***
6790366-G-A 6922325-G-A ***
24432904-G-T 22286757-G-T ***
10673850-T-G ***
14529234-CAAAA-C,CAAA 12417435-CAAAA-C,CAAA 15×A***
6671087-A-T 6803046-A-T ***
13801090-A-C 11680384-A-C ***
14753223-C-A 12641292-C-A ***
13801094-G-C 11680388-G-C ***

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.

Age Analysis Information (work in progress)

AllMcDonaldYFull
Kit: 684036981592780183307897775
Used in age calculations981592780183307897775
Counts of SNPs3128
Variant counts last updated 2018-06-18 20:55:42.


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