Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > ZZ10 > Z253 > Z2534 > ZZ5 > Z2185 > BY44331 > Z2186 > L1066

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
19699704-A-G 17587824-A-G P5_Prx 4×AATGA*
4749989-T-C 4881948-T-C A*
22304983-G-T 20143097-G-T DYZ19 A*
19879019-C-T 17767139-C-T P5_Prx A*
28817533-G-T 26671386-G-T A*
56831918-C-G A*
26424314-C-CA 24278167-C-CA P1_Y1 23×AA*
56830900-C-CT A*
6221927-C-T 6353886-C-T IR3_Dst A*
13451504-C-T 11295828-C-T A*
20775148-A-C 18613262-A-C P4_Prx A*
22310215-A-T 20148329-A-T DYZ19 A*
22456208-C-A 20294322-C-A DYZ19 A*
24308646-C-T 22162499-C-T P3_t1 A*
25615640-T-C 23469493-T-C P1_gr1 A*
26071034-C-A 23924887-C-A P1_Y1 A*
26071131-G-C 23924984-G-C P1_Y1 A*
26188264-A-G 24042117-A-G P1_Y1 A*
26337700-G-A 24191553-G-A P1_Y1 A*
26407761-T-G 24261614-T-G P1_Y1 A*
7589937-G-A 7721896-G-A FT374073 YY+
21500089-C-T 19338203-C-T A21146 YY+
3319786-A-C 3451745-A-C FT82460 8×TC+
14592787-C-A 12480987-C-A FT372083 YY+
18720228-C-T 16608348-C-T FT297762 YY+
9932101-C-A 10094492-C-A FT373327 Y+
22476559-G-T 20314673-G-T BY48641 DYZ19 +
23073111-T-TA 20911225-T-TA 8×A+
10932164-C-A FT437061 +
2910696-G-A 3042655-G-A FT371390 YY+
4354689-C-A 4486648-C-A FT371541 +
5074080-C-T 5206039-C-T FT371619 +
6467279-A-C 6599238-A-C FT371739 +
9513243-A-T 9675634-A-T FT371952 +
10745693-C-T FT429356 +
10826328-G-T FT432924 +
10834461-C-A FT433327 +
10871951-C-G FT434908 +
13597736-C-G 11442060-C-G FT446271 +
14232205-C-A 12111499-C-A FT372043 YY+
15384553-A-G 13272673-A-G BY172590 YY+
15388232-A-C 13276352-A-C BY172582 YY+
15601717-G-C 13489837-G-C FT372186 YY+
15772098-G-T 13660218-G-T BY172583 YY+
16470911-A-T 14359031-A-T FT372266 Y+
16703092-T-C 14591212-T-C FT372278 Y+
16859002-G-T 14747122-G-T FT372295 YY+
17315355-TTAAAAA-T 15203475-TTAAAAA-T +
17355687-A-G 15243807-A-G FT372357 YY+
17418251-A-C 15306371-A-C FT372369 YY+
17721903-C-T 15610023-C-T FT372416 YY+
17894130-C-A 15782250-C-A FT372433 YY+
18090981-T-C 15979101-T-C FT372451 YY+
18780986-C-G 16669106-C-G FT374200 YY+
18821990-C-T 16710110-C-T BY172589 YY+
18915667-G-A 16803787-G-A FT372507 YY+
19465023-G-A 17353143-G-A FT372563 YY+
19533755-C-T 17421875-C-T FT372566 YY+
21502646-T-C 19340760-T-C FT372626 Y+
21560865-A-G 19398979-A-G FT372633 YY+
21649763-G-T 19487877-G-T BY172584 YY+
22127376-A-T 19965490-A-T FT372676 YY+
22437840-G-A 20275954-G-A FT456222 DYZ19 +
22932565-G-A 20770679-G-A FT372727 YY+
20352297-T-TAC 18190411-T-TAC P5_Dst 12×AC*
5246329-T-TAC 5378288-T-TAC 16×AC*
22254081-C-T 20092195-C-T DYZ19 *
3663144-C-T 3795103-C-T *
3663122-C-T 3795081-C-T *
10787798-G-T *
10893502-C-T *
13459077-A-G 11303401-A-G **
2888689-A-G 3020648-A-G FGC12729 Z17920 **
3340115-T-C 3472074-T-C **
22244966-A-C 20083080-A-C BY43685 DYZ19 **
13705489-T-A 11549813-T-A **
18767186-CTTT-C 16655306-CTTT-C 16×T**
14418203-GTATA-G 12297478-GTATA-G 8×TA**
13459090-G-T 11303414-G-T **
13459091-C-A 11303415-C-A **
16051032-T-C 13939152-T-C **
16051052-T-C 13939172-T-C **
6961503-TTA-T 7093462-TTA-T **
10073910-T-A 10236301-T-A **
10871194-C-G **
13479939-T-A 11324263-T-A BY210369 **
13518755-A-G 11363079-A-G **
13546500-G-A 11390824-G-A **
14135731-T-C 12015025-T-C **
17475212-G-A 15363332-G-A **
17475214-G-A 15363334-G-A **
19100144-C-T 16988264-C-T **
19378078-G-A 17266198-G-A **
22422431-C-G 20260545-C-G DYZ19 **
22512537-C-A 20350651-C-A DYZ19 **
26120150-TTTCCTTCC-T 23974003-TTTCCTTCC-T P1_Y1 12×TTCC***
15047477-T-C 12935568-T-C ***
18864946-G-GAA 16753066-G-GAA 19×A***
24508205-CTTT-C,CTT 22362058-CTTT-C,CTT 22×T***
18035695-TGA-T 15923815-TGA-T ***
8907707-G-A 9039666-G-A ***
5125653-T-C 5257612-T-C ***
13608647-C-CAA 11452971-C-CAA 27×A***
14464165-A-T 12343438-A-T 18×T***
13692849-C-A 11537173-C-A ***
3466432-AT-A 3598391-AT-A 10×T***
3963833-CAA-C 4095792-CAA-C 22×A***
4393795-C-T 4525754-C-T ***
16051036-T-C 13939156-T-C ***
13951501-G-GTA 11830795-G-GTA 9×TA***
13384222-C-A 11228546-C-A ***
28518497-A-T 26372350-A-T ***
3641159-T-C 3773118-T-C ***
7576644-AT-A 7708603-AT-A ***
8030052-AAAAAG-A 8162011-AAAAAG-A ***
8093595-A-G 8225554-A-G ***
8158180-G-A 8290139-G-A ***
8690206-C-A 8822165-C-A ***
13340790-G-A 11185114-G-A ***
13616889-T-C 11461213-T-C ***
14764914-ATTT-A,ATTTTT 12652983-ATTT-A,ATTTTT 23×T***
21182397-CTT-C,CTTT 19020511-CTT-C,CTTT 20×T***
22245502-T-C 20083616-T-C DYZ19 ***
22278363-T-C 20116477-T-C DYZ19 ***
22279337-G-C 20117451-G-C DYZ19 ***
28533700-GTT-G,GT 26387553-GTT-G,GT 15×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.