Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > ZZ48

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 STRFGC
QC1R7
Manual
Edits
15748930-G-C 13637050-G-C FGC5358 Y+
3982069-A-G 4114028-A-G FGC5332 +
17000378-C-T 14888498-C-T FGC5362 Y+
16911453-C-T 14799573-C-T FGC5361 YY+
16821239-C-G 14709359-C-G FGC5360 YY+
8354795-T-C 8486754-T-C FGC5344 YY+
15911088-T-G 13799208-T-G FGC5359 YY+
14946001-T-C 12834075-T-C FGC5357 YY+
14915734-C-T 12803801-C-T FGC5356 YY+
14446883-C-A 12326156-C-A FGC5355 Y+
14384421-C-T 12263717-C-T FGC5354 Y+
14203180-A-T 12082474-A-T FGC5353 YY+
14113799-A-C 11993093-A-C FGC5352 Y+
3512246-T-C 3644205-T-C FGC5330 +
4024826-A-C 4156785-A-C FGC5333 +
17425034-T-C 15313154-T-C FGC5365 YY+
13136520-A-G 10626006-A-G FGC5351 +
10062214-G-A 10224605-G-A FGC5350 +
5315550-T-C 5447509-T-C FGC5334 +
8744425-G-T 8876384-G-T FGC5348 YY+
8698781-T-G 8830740-T-G FGC5347 YY+
8632571-C-G 8764530-C-G PF7600 YY+
6401609-C-T 6533568-C-T FGC5336 +
6696148-T-C 6828107-T-C FGC5337 YY+
8523475-C-T 8655434-C-T FGC5346 YY+
8379057-C-A 8511016-C-A FGC5345 YY+
7501365-C-T 7633324-C-T FGC5340 IR1_L +
7773447-C-T 7905406-C-T FGC5341 YY+
7917598-C-T 8049557-C-T FGC5342 Y+
17006871-G-C 14894991-G-C FGC5363 YY+
8079769-C-T 8211728-C-T FGC5343 YY+
17603265-A-G 15491385-A-G FGC5366 YY+
22436950-C-T 20275064-C-T FGC5373 DYZ19 +
22698749-AT-A 20536863-AT-A +
21501940-GT-G 19340054-GT-G +
23869526-T-C 21707640-T-C FGC5378 Y+
23400221-T-C 21238335-T-C FGC5377 Y+
17674043-C-T 15562163-C-T FGC5367 YY+
22485853-G-T 20323967-G-T FGC5375 DYZ19 +
23032505-T-C 20870619-T-C FGC5376 YY+
18093388-A-T 15981508-A-T FGC5371 YY+
17936315-G-T 15824435-G-T FGC5369 YY+
17740030-A-C 15628150-A-C FGC5368 YY+
17979365-G-A 15867485-G-A FGC5370 Y+
18793255-G-A 16681375-G-A FGC5372 YY*
9708890-G-A 9871281-G-A FGC5349 IR3_Prx *
6869468-G-C 7001427-G-C FGC5338 YY*
21551714-CATAT-C 19389828-CATAT-C *
7086664-T-C 7218623-T-C FGC5339 YY*
3564824-G-C 3696783-G-C FGC5331 *
22475690-G-T 20313804-G-T FGC5374 DYZ19 *
14737560-T-C 12625628-T-C FGC7989 Y*
18493038-T-C 16381158-T-C ZZ48_2 P6_Dst *
5960316-A-G 6092275-A-G FGC5335 *
4240360-A-AT 4372319-A-AT 9×T**
20252796-C-CAAAAAAAAA 18090910-C-CAAAAAAAAA P5_Dst 24×A**
17748826-A-G 15636946-A-G **
15969956-T-TAA 13858076-T-TAA 20×A**
23036678-CAAAAAAAAA-C 20874792-CAAAAAAAAA-C 21×A**
15420132-C-CAAAAAAA 13308252-C-CAAAAAAA 18×A**
23317649-C-CTTTT 21155763-C-CTTTT 37×T**
7106982-GCTCT-G 7238941-GCTCT-G 15×CT**
26123669-C-T 23977522-C-T P1_Y1 **
22989652-C-CT 20827766-C-CT 14×T**
9492500-A-G 9654891-A-G **
27334917-C-T 25188770-C-T P1_g3 **
22270461-G-C 20108575-G-C DYZ19 **
13716719-A-C 11561043-A-C **
13716746-G-C 11561070-G-C **
13716751-C-G 11561075-C-G **
22488333-G-A 20326447-G-A DYZ19 **
22438401-G-T 20276515-G-T DYZ19 **
18129140-T-A 16017260-T-A **
14795508-G-C 12683579-G-C **
14795549-G-C 12683620-G-C **
16519280-A-G 14407400-A-G **
8377909-TAC-T 8509868-TAC-T 16×AC**
8322030-A-G 8453989-A-G **
4283106-T-C 4415065-T-C **
9342865-T-TG 9505256-T-TG **
5241238-CTTTT-C 5373197-CTTTT-C 15×T**
13716757-T-G 11561081-T-G **
13714756-C-CGAACG 11559080-C-CGAACG **
6719441-T-TA 6851400-T-TA 14×A**
3373983-T-C 3505942-T-C **
7297817-C-T 7429776-C-T **
3374048-CATAAAATAAA-C 3506007-CATAAAATAAA-C 10×ATAAA**
5260271-C-T 5392230-C-T **
6214047-C-G 6346006-C-G IR3_Dst **
7023657-A-T 7155616-A-T **
5260275-T-G 5392234-T-G **
5493431-C-CTTTTT 5625390-C-CTTTTT 24×T***
5710709-T-TA 5842668-T-TA 11×A***
6089764-G-GTTTT 6221723-G-GTTTT 31×T***
27701895-C-A 25555748-C-A P1_Y2 ***
27651757-C-T 25505610-C-T P1_Y2 ***
6521551-G-GTTTT 6653510-G-GTTTT 17×T***
58912945-GGC-TGT 56677924-GCC-ACA ***
22360164-C-CCTCG 20198278-C-CCTCG DYZ19 ***
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***
28117299-G-T 25971152-G-T P1_b4 ***
5260271-CGTGT-TGTGG 5392230-CGTGT-TGTGG ***
18403055-G-A 16291175-G-A P6_Gap ***
3570953-TAAGTAAAC-AAAAAAAAA 3702912-TAAGTAAAC-AAAAAAAAA ***
2888870-C-CGAAAAAAA 3020829-C-CGAAAAAAA 32×A***
15865549-CTT-C 13753669-CTT-C 22×T***
13470229-TGG-AGA 11314553-TGG-AGA ***
15491865-G-GTA 13379985-G-GTA 8×TA***
17054866-A-AATAT 14942986-A-AATAT 13×AT***
58916547-C-A 56674324-G-T ***
58909071-A-T 56681800-T-A ***
58908615-A-T 56682256-T-A ***
58895364-G-C 56695507-C-G ***
58885417-A-C 56705454-T-G ***
58885412-A-T 56705459-T-A ***
58885407-C-A 56705464-G-T ***
58857616-A-T 56733255-T-A ***
10006420-GGCAG-AGCAT 10168811-GGCAG-AGCAT ***
13715557-AAATAATCG-A 11559881-AAATAATCG-A ***
13480805-CT-GG 11325129-CT-GG ***
22358631-TTTG-CTTT 20196745-TTTG-CTTT DYZ19 ***
19437426-G-GGGGGA 17325546-G-GGGGGA ***
22488459-T-C 20326573-T-C DYZ19 ***
22236443-C-G 20074557-C-G DYZ19 ***
22234387-AGAAAGAAGA-GGAAGGTAGT 20072501-AGAAAGAAGA-GGAAGGTAGT DYZ19 ***
22252916-GGT-TGA 20091030-GGT-TGA DYZ19 ***
22341205-GTT-CTG 20179319-GTT-CTG DYZ19 ***
22361551-GTA-ATT 20199665-GTA-ATT DYZ19 ***
17317720-TCA-T 15205840-TCA-T 23×CA***
22361610-TACT-CACA 20199724-TACT-CACA DYZ19 ***
22341240-TAGAGTTTGTTCC-CATTGTGTCCTCG 20179354-TAGAGTTTGTTCC-CATTGTGTCCTCG DYZ19 ***
13716806-T-G 11561130-T-G S5456Z17572 ***
13716804-G-A 11561128-G-A S5456 A10321Z17571 ***
24614178-C-CAAAAAA 22468031-C-CAAAAAA P3_t2 19×A***
58840442-CTTC-GTTG 56750426-GAAG-CAAC ***
58885397-ACTCC-TATAG 56705470-GGAGT-CTATA ***
18804474-A-AAGAGAACGAGGAAAG 16692594-A-AAGAGAACGAGGAAAG 26×AG***
17317720-TCACA-T 15205840-TCACA-T 23×CA***
13484100-TGCAGAC-GGAAGAG 11328424-TGCAGAC-GGAAGAG ***
13716768-AT-A 11561092-AT-A ***
13488929-CGTGT-TGTGG 11333253-CGTGT-TGTGG ***
13712902-AGGAA-CGGAC 11557226-AGGAA-CGGAC ***
22481323-A-T 20319437-A-T DYZ19 ***
13716587-TCCTCA-GACTGG 11560911-TCCTCA-GACTGG ***
13716751-CGA-GGAACAAT 11561075-CGA-GGAACAAT ***
13716763-AG-TAC 11561087-AG-TAC ***
13716777-TAATTG-GAATGT 11561101-TAATTG-GAATGT ***
17275766-G-GGGAAT 15163886-G-GGGAAT ***
13717595-CCAA-GCAT 11561919-CCAA-GCAT ***
15260684-C-CTTTTTTTTTT 13148768-C-CTTTTTTTTTT 25×T***
20541573-T-C 18379687-T-C P5_Dst ***
22420995-TG-AT 20259109-TG-AT DYZ19 ***
16641872-CATATAT-C 14529992-CATATAT-C 12×AT***
17096012-GA-G 14984132-GA-G 14×A***
17130400-C-CTTTTTT 15018520-C-CTTTTTT 21×T***
27123992-C-T 24977845-C-T P1_g3 ***
22236494-G-T 20074608-G-T DYZ19 ***
25026065-G-T 22879918-G-T g1 ***
13716946-T-G 11561270-T-G ***
22352624-G-T 20190738-G-T DYZ19 ***
13717326-GAATGGAATTA-G 11561650-GAATGGAATTA-G ***
14061366-AT-A 11940660-AT-A 17×T***
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 ***
14184472-G-A 12063766-G-A ***
13732476-T-G 11576800-T-G ***
13728337-A-G 11572661-A-G ***
13717611-A-C 11561935-A-C ***
13717210-T-G 11561534-T-G ***
13716764-G-C 11561088-G-C ***
17527327-CAT-C 15415447-CAT-C 8×AT***
13715539-G-T 11559863-G-T ***
6204461-T-A 6336420-T-A IR3_Dst ***
6164520-A-G 6296479-A-G IR3_Dst ***
9349981-G-C 9512372-G-C ***
6130584-A-G 6262543-A-G ***
13481147-C-A 11325471-C-A ***
13488965-G-A 11333289-G-A ***
13715540-T-G 11559864-T-G ***
3570956-G-A 3702915-G-A ***
13715546-A-T 11559870-A-T ***
13715547-G-C 11559871-G-C ***
13715687-A-T 11560011-A-T ***
13716706-G-C 11561030-G-C ***
4138829-A-T 4270788-A-T ***
4089459-T-C 4221418-T-C ***
24614198-G-A 22468051-G-A P3_t2 ***
13716895-C-T 11561219-C-T ***
58837044-T-G 56753827-A-C ***
8160178-C-CAAAAAAA 8292137-C-CAAAAAAA 20×A***
22361072-T-G 20199186-T-G DYZ19 ***
22364716-T-A 20202830-T-A DYZ19 ***
22436439-A-C 20274553-A-C DYZ19 ***
27462492-C-A 25316345-C-A P1_Y2 ***
58868394-TTCCATTCCGTGGCTG-T 56722453-TGGAATGGACAGCCAC-T ***
22443683-C-T 20281797-C-T DYZ19 ***
22481820-G-A 20319934-G-A DYZ19 ***
20420960-TAA-T 18259074-TAA-T P5_Dst 17×A***
22481825-G-A 20319939-G-A DYZ19 ***
22355186-G-A 20193300-G-A DYZ19 ***
22496065-A-C 20334179-A-C DYZ19 ***
22505207-G-A 20343321-G-A DYZ19 ***
19187385-A-ATTTTTT 17075505-A-ATTTTTT 28×T***
3534526-CA-C 3666485-CA-C 15×A***
22297278-C-A 20135392-C-A DYZ19 ***
22235010-C-T 20073124-C-T DYZ19 ***
13716822-A-G 11561146-A-G Z17164 ***
13463631-A-T 11307955-A-T ***
13485386-G-T 11329710-G-T ***
17542260-T-C 15430380-T-C ***
13428089-C-T 11272413-C-T ***
4021912-C-T 4153871-C-T ***
13717777-GTCA-CTCG 11562101-GTCA-CTCG ***
20025431-TC-CT 17913551-TC-CT P5_Prx ***
10006453-A-G 10168844-A-G ***
21199959-G-A 19038073-G-A ***
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 ***
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. 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
Manual18316065-A-GInformation from Richard Rocca.
Manual18493038-T-CInformation from Richard Rocca.

Haplotype Progression

The data below reveals the progression of changes in the haplotype. The bottom row is the haplotype for this man and above him are the inferred ancestral haplotypes for various upstream blocks. These inferred haplotypes are very much a work in progress, and any suggested modifications are appreciated. I think we can use our vast collection of haplotype data to refine these haplotypes. Mutations made from each upstream block are shown in sequence. The cell color is determined by the block in which the mutation took place.

DYS393
DYS390
DYS19
DYS391
DYS385
DYS426
DYS388
DYS439
DYS389i
DYS392
DYS389ii
DYS458
DYS459
DYS455
DYS454
DYS447
DYS437
DYS448
DYS449
DYS464
DYS460
Y-GATA-H4
YCAII
DYS456
DYS607
DYS576
DYS570
CDY
DYS442
DYS438
DYS531
DYS578
DYF395S1
DYS590
DYS537
DYS641
DYS472
DYF406S1
DYS511
DYS425
DYS413
DYS557
DYS594
DYS436
DYS490
DYS534
DYS450
DYS444
DYS481
DYS520
DYS446
DYS617
DYS568
DYS487
DYS572
DYS640
DYS492
DYS565
DYS710
DYS485
DYS632
DYS495
DYS540
DYS714
DYS716
DYS717
DYS505
DYS556
DYS549
DYS589
DYS522
DYS494
DYS533
DYS636
DYS575
DYS638
DYS462
DYS452
DYS445
Y-GATA-A10
DYS463
DYS441
Y-GGAAT-1B07
DYS525
DYS712
DYS593
DYS650
DYS532
DYS715
DYS504
DYS513
DYS561
DYS552
DYS726
DYS635
DYS587
DYS643
DYS497
DYS510
DYS434
DYS461
DYS435
P312/S1161324141111-14121212131329179-1011112515192915-15-17-17111119-231615181736-38121211915-1681010810101223-231610121215812222013121113111112123315916122626191211131210912121011113012132413101020151913241712152412231810141791211
Montaguti1324141111-14121211151331159-1011112515193114-14-16-17111019-231715161736-40121311915-1681110810101222-231610121214810222013121113111112123514916122826191211131210912121011113112132413101021151913241512152412241810141891211

Age Analysis Information (work in progress)

AllMcDonaldYFull
Kit: QC1R7*16000000100000008300000
Used in age calculations16000000100000008300000
Counts of SNPs3527
Variant counts last updated 2017-12-13 11:41:15.

* BED data not available. Using default values.


Big Tree Main Page