unknown

BigY3: MI47362

Tree Position

A0-T-YP2191 > P305[A1] > A1b > BT/A1b2 > M168/PF1416[CT] > M145/P205/PF144 > M96/PF1823 > P147 > P177 > M215 > M35 > Z827 > PF1957 > PF1962

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 STRBigY3
MI47362
27878644-G-C 25732497-G-C P1_Y2 A+
6271369-G-A 6403328-G-A IR3_Dst A*
16115193-G-GTATT 14003313-G-GTATT P8_Prx 7×TATTA*
13470228-G-A 11314552-G-A A*
6249146-T-C 6381105-T-C IR3_Dst A*
9736317-T-C 9898708-T-C IR3_Prx A*
13449443-C-A 11293767-C-A A*
19781312-G-GT 17669432-G-GT P5_Prx 8×TA*
19783089-C-T 17671209-C-T P5_Prx A*
19817026-A-G 17705146-A-G P5_Prx A*
20045282-G-GGA 17933402-G-GGA P5_Prx A*
20413950-A-G 18252064-A-G P5_Dst A*
20660284-T-C 18498398-T-C P4_Prx A*
20674509-G-A 18512623-G-A P4_Prx A*
20995112-C-T 18833226-C-T P4_Dst A*
24266402-C-T 22120255-C-T BY10912 P3_b1 A*
24306407-T-C 22160260-T-C P3_t1 A*
26252458-T-C 24106311-T-C P1_Y1 A*
26421754-G-T 24275607-G-T P1_Y1 A*
26492732-T-A 24346585-T-A P1_Y1 A*
15203861-AAACAAC-A 13091947-AAACAAC-A 12×AAC+
13596353-G-A 11440677-G-A FT446208 +
4201548-T-C 4333507-T-C FT172838 +
22237837-A-G 20075951-A-G BY213733 DYZ19 +
2932595-A-G 3064554-A-G FT172249 +
3016695-T-C 3148654-T-C FT172285 +
3138881-C-A 3270840-C-A FT172346 +
4167835-A-G 4299794-A-G FT172816 +
4311508-T-G 4443467-T-G FT172892 +
4396902-A-G 4528861-A-G FT172931 +
4397417-GTATGT-G 4529376-GTATGT-G +
4889572-A-C 5021531-A-C FT173157 +
6113459-A-C 6245418-A-C FT173687 +
6135261-G-A 6267220-G-A BY59157 +
6433392-G-C 6565351-G-C FT173734 +
7031410-C-T 7163369-C-T Y+
7436919-G-A 7568878-G-A FT174108 Y+
7927098-G-C 8059057-G-C BY68810 YY+
9113599-C-T FT174652 +
9076665-C-A 9239056-C-A FT174685 +
9500537-T-G 9662928-T-G BY79961 +
9773382-C-A 9935773-C-A FT174796 Y+
10760867-C-T FT262962 +
10760868-C-T FT262961 +
10771174-A-G FT262960 +
10774474-C-A FT430636 +
13226420-A-G 11070744-A-G FT262959 +
13842142-C-T 11721436-C-T +
14010926-C-T 11890220-C-T FT175020 YY+
14197675-T-G 12076969-T-G FT175092 YY+
14481395-T-C 12360664-T-C FT175235 YY+
14723461-A-G 12611529-A-G BY97281 YY+
15694916-A-T 13583036-A-T FT175632 YY+
15707952-T-G 13596072-T-G FT175635 YY+
15798048-C-T 13686168-C-T FT175668 YY+
15798155-A-T 13686275-A-T FT175669 YY+
16040293-A-G 13928413-A-G FT175745 YY+
16291954-A-G 14180074-A-G FT175808 YY+
16331079-A-C 14219199-A-C BY106977 YY+
16526609-C-T 14414729-C-T FT175898 YY+
16644975-C-G 14533095-C-G FT175952 YY+
16858167-AT-A 14746287-AT-A +
17793775-C-G 15681895-C-G BY117437 YY+
17793819-C-T 15681939-C-T BY211712 YY+
18112398-C-T 16000518-C-T FT181360 YY+
19206108-G-T 17094228-G-T BY127229 YY+
19343045-T-C 17231165-T-C FT176920 YY+
20825684-A-G 18663798-A-G FT197409 P4_Gap +
21114243-T-A 18952357-T-A BY130499 YY+
21222410-TCCACTCTCA-T 19060524-TCCACTCTCA-T +
21491501-C-T 19329615-C-T FT177183 YY+
21859908-C-T 19698022-C-T FT177320 YY+
22475188-C-T 20313302-C-T BY53110 DYZ19 +
22812995-G-T 20651109-G-T BY140944 YY+
22915328-C-G 20753442-C-G BY141686 YY+
22924032-C-A 20762146-C-A FT177626 YY+
22931184-T-G 20769298-T-G BY141832 YY+
23189291-G-A 21027405-G-A FT177743 Y+
23590459-C-G 21428573-C-G FT177868 YY+
23744912-G-C 21583026-G-C BY147316 +
23832072-A-G 21670186-A-G BY148148 Y+
21750611-C-A FT177940 +
23957321-T-C 21811174-T-C FT177948 +
28575489-A-C 26429342-A-C FT178064 +
28596866-C-T 26450719-C-T FT178073 +
28611572-G-A 26465425-G-A FT178082 +
17441783-GTATCTATC-G 15329903-GTATCTATC-G 12×TATC*
26079101-C-T 23932954-C-T BY31009BY177545 P1_Y1 *
11666541-C-CGAATG *
10684802-C-T *
13576547-G-GA 11420871-G-GA *
56863095-CA-C 9×A*
27883308-G-A 25737161-G-A P1_Y2 **
22462178-T-C 20300292-T-C BY52846 DYZ19 **
16308966-C-A 14197086-C-A **
28791305-G-T 26645158-G-T **
4763468-CAA-C 4895427-CAA-C 25×A**
28791351-T-G 26645204-T-G **
14396431-C-A 12275727-C-A FGC65253M6630 **
27618033-C-A 25471886-C-A P1_Y2 **
2956230-G-A 3088189-G-A **
4366529-T-C 4498488-T-C **
6380452-G-T 6512411-G-T **
6380481-G-T 6512440-G-T **
10745938-C-T **
10780581-G-C **
13222635-G-A 11066959-G-A **
13329381-C-T 11173705-C-T FT350957 **
13588606-G-T 11432930-G-T **
16170445-C-G 14058565-C-G **
17308014-C-T 15196134-C-T BY113685 **
18139466-C-T 16027586-C-T **
18465542-A-C 16353662-A-C P6_Dst **
22302611-G-A 20140725-G-A BY52437 DYZ19 **
22437628-T-A 20275742-T-A DYZ19 **
22591530-G-A 20429644-G-A **
27618040-G-T 25471893-G-T P1_Y2 **
28791336-T-C 26645189-T-C **
12716-G-A **
19382304-GATT-G 17270424-GATT-G 7×ATT***
13810902-T-A 11690196-T-A ***
6226044-CTTCT-C,CTTCTTTCT 6358003-CTTCT-C,CTTCTTTCT IR3_Dst 13×TTCT***
15260684-CTTTTT-C 13148768-CTTTTT-C 25×T***
3512038-GT-G 3643997-GT-G 8×T***
13475213-A-G 11319537-A-G ***
10678994-TTCCACTCCAG-T ***
13475195-T-A 11319519-T-A ***
9825002-C-CAT 9987393-C-CAT ***
28500806-CTTT-C,CTT 26354659-CTTT-C,CTT 18×T***
5453891-CTTT-C 5585850-CTTT-C 19×T***
13540253-A-AACACAC 11384577-A-AACACAC 23×AC***
13936200-A-AAG 11815494-A-AAG ***
10884837-CTTTCC-T ***
5572692-G-T 5704651-G-T ***
3604671-T-C 3736630-T-C ***
4031496-C-A 4163455-C-A ***
4389404-CAAAAAAAAAA-C 4521363-CAAAAAAAAAA-C 21×A***
17307842-TATATAG-T 15195962-TATATAG-T ***
18462580-TACACACAC-T,TACACAC 16350700-TACACACAC-T,TACACAC P6_Dst 20×AC***
18914181-C-CAT 16802301-C-CAT ***
21406053-A-AGAAGGAAGGAAG 19244167-A-AGAAGGAAGGAAG 8×GAAG***
22438304-G-A 20276418-G-A DYZ19 ***
22477820-A-T 20315934-A-T DYZ19 ***
22890055-A-AT,ATT 20728169-A-AT,ATT 12×T***
28502035-G-T 26355888-G-T ***
28724174-A-ATGT,ATGTT 26578027-A-ATGT,ATGTT 20×T***
28792560-A-T 26646413-A-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.