Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > ZZ45 > Z36/S206 > V2488

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
16951281-T-G 14839401-T-G YY+
14276928-T-C 12156222-T-C BY39612 YY+
7750465-C-G 7882424-C-G YY+
8115827-G-T 8247786-G-T BY39610 YY+
25890672-G-GC 23744525-G-GC P1_Y1 +
8429555-A-G 8561514-A-G V1951 YY+
8737530-T-A 8869489-T-A YY+
9790061-C-G 9952452-C-G Y+
13543417-G-A 11387741-G-A +
13671856-G-A 11516180-G-A +
23809077-CTGT-C 21647191-CTGT-C +
22944917-A-G 20783031-A-G BY39622 YY+
22737756-C-A 20575870-C-A BY39621 YY+
14045054-G-T 11924348-G-T YY+
14836773-A-G 12724840-A-G YY+
6933055-T-C 7065014-T-C BY39608 YY+
15479815-A-G 13367935-A-G YY+
22458581-G-C 20296695-G-C BY39619 DYZ19 +
17148522-G-A 15036642-G-A BY39613 YY+
17602158-A-G 15490278-A-G BY39614 YY+
18067446-A-G 15955566-A-G YY+
18563155-A-G 16451275-A-G V3280 YY+
19208384-C-A 17096504-C-A YY+
19229967-T-C 17118087-T-C V3933 YY+
19308554-G-C 17196674-G-C YY+
19392477-C-T 17280597-C-T BY39615 YY+
21291714-G-A 19129828-G-A BY39617 YY+
21464750-G-C 19302864-G-C YY+
7548184-G-C 7680143-G-C V1192 YY+
9838716-T-C 10001107-T-C YY+
6105401-G-A 6237360-G-A +
22156426-A-AT 19994540-A-AT +
2688071-G-GTAAA 2820030-G-GTAAA 5×TAAA+
14619072-C-T 12507270-C-T CTS3030 **
28050211-T-TTTC 25904064-T-TTTC P1_Y2 **
9979289-A-T 10141680-A-T **
28579624-A-G 26433477-A-G CTS12338 **
6645868-G-A 6777827-G-A **
7363498-A-G 7495457-A-G BY39609 **
5968033-T-C 6099992-T-C **
13680871-G-GA 11525195-G-GA ***
22430452-T-C 20268566-T-C DYZ19 ***
27319441-T-A 25173294-T-A P1_g3 ***
27336163-C-T 25190016-C-T P1_g3 ***
27356026-G-T 25209879-G-T P1_g3 ***
27357581-G-A 25211434-G-A P1_g3 ***
27383748-G-A 25237601-G-A FGC59466 P1_g3 ***
27414820-C-T 25268673-C-T P1_g3 ***
27421392-C-T 25275245-C-T P1_g3 ***
22455817-C-T 20293931-C-T DYZ19 ***
27784484-C-A 25638337-C-A P1_Y2 ***
27567867-T-A 25421720-T-A P1_Y2 ***
22286329-G-T 20124443-G-T DYZ19 ***
28067689-G-GT 25921542-G-GT P1_Y2 8×T***
24027588-G-A 21881441-G-A ***
28785925-G-A 26639778-G-A ***
28785934-T-A 26639787-T-A ***
28790771-A-G 26644624-A-G ***
22424284-A-C 20262398-A-C DYZ19 ***
22308260-T-G 20146374-T-G A17920 DYZ19 ***
22293172-A-G 20131286-A-G DYZ19 ***
27298371-G-A 25152224-G-A P1_g3 ***
24648519-A-G 22502372-A-G P3_b2 ***
24212897-G-A 22066750-G-A P3_b1 ***
25347791-TA-T 23201644-TA-T P2_r1 ***
26189837-T-C 24043690-T-C P1_Y1 ***
26589777-T-C 24443630-T-C P1_g2 ***
26177944-G-T 24031797-G-T P1_Y1 ***
27134074-AAGAT-A 24987927-AAGAT-A P1_g3 ***
27158584-C-G 25012437-C-G P1_g3 ***
27165197-AT-A 25019050-AT-A P1_g3 11×T***
25404230-C-CT 23258083-C-CT P2_r2 12×T***
25375020-G-A 23228873-G-A P2_r2 ***
27214639-G-A 25068492-G-A P1_g3 ***
22260057-T-A 20098171-T-A DYZ19 ***
25363037-AT-A 23216890-AT-A P2_r2 ***
27275864-T-C 25129717-T-C P1_g3 ***
24296881-C-G 22150734-C-G P3_t1 ***
25170073-G-C 23023926-G-C g1 ***
27297665-C-G 25151518-C-G P1_g3 ***
25091955-G-C 22945808-G-C g1 ***
25009208-A-T 22863061-A-T g1 ***
24773154-T-A 22627007-T-A P3_b2 ***
24765226-G-T 22619079-G-T P3_b2 ***
24765065-T-A 22618918-T-A P3_b2 ***
24764977-C-A 22618830-C-A P3_b2 ***
24750897-C-T 22604750-C-T P3_b2 ***
24665790-C-T 22519643-C-T FGC71847 P3_b2 ***
26394570-A-T 24248423-A-T P1_Y1 ***
24342347-A-G 22196200-A-G P3_t1 ***
22282430-C-A 20120544-C-A DYZ19 ***
22256837-A-C 20094951-A-C DYZ19 ***
24768408-G-C 22622261-G-C P3_b2 ***
6209904-C-T 6341863-C-T IR3_Dst ***
27233151-G-A 25087004-G-A P1_g3 ***
13701288-A-C 11545612-A-C ***
13826140-TGGAAA-T 11705434-TGGAAA-T ***
8218120-C-T 8350079-C-T 15×TTCT***
13676726-G-A 11521050-G-A ***
17781573-TA-T 15669693-TA-T ***
28785931-A-AAGTGG 26639784-A-AAGTGG ***
27246926-T-G 25100779-T-G P1_g3 ***
27237174-G-T 25091027-G-T P1_g3 ***
24850712-T-A 22704565-T-A P3_b2 ***
13826094-G-A 11705388-G-A ***
8218018-T-A 8349977-T-A ***
10019651-C-T 10182042-C-T ***
13676616-G-C 11520940-G-C ***
24866990-AT-A 22720843-AT-A P3_b2 11×T***
13826089-C-A 11705383-C-A ***
15260684-C-CTT 13148768-C-CTT 25×T***
9186918-G-GA 9349309-G-GA 13×A***
13676711-G-C 11521035-G-C ***
13694211-T-G 11538535-T-G ***
13867630-C-T 11746924-C-T ***
22491061-T-C 20329175-T-C DYZ19 ***
13701313-GATATC-G 11545637-GATATC-G ***
28785990-G-A 26639843-G-A ***
7457304-A-C 7589263-A-C CTS1513 IR1_L ***
8218097-T-C 8350056-T-C ***
22237229-A-T 20075343-A-T DYZ19 ***
13801807-C-A 11681101-C-A ***
22226174-AC-A 20064288-AC-A DYZ19 ***
20662535-T-C 18500649-T-C P4_Prx ***
20034841-C-T 17922961-C-T P5_Prx ***
19959057-G-GA 17847177-G-GA P5_Prx 9×A***
13676730-G-T 11521054-G-T ***
16157842-C-T 14045962-C-T P8_Dst ***
16157841-T-C 14045961-T-C P8_Dst ***
13868365-G-A 11747659-G-A ***
13868360-T-TAACCC 11747654-T-TAACCC ***
13867604-A-T 11746898-A-T ***
13853056-TGTAAG-T 11732350-TGTAAG-T ***
13810806-A-C 11690100-A-C ***
13744261-A-G 11588585-A-G ***
9304947-T-A 9467338-T-A ***
13697832-G-A 11542156-G-A ***
13694322-G-A 11538646-G-A ***
13694319-A-C 11538643-A-C ***
13694315-T-A 11538639-T-A ***
13694312-A-G 11538636-A-G ***
13694295-T-G 11538619-T-G ***
13694236-T-G 11538560-T-G ***
13694235-T-A 11538559-T-A ***
13680872-A-G 11525196-A-G ***
13662090-G-A 11506414-G-A ***
13455660-A-T 11299984-A-T ***
9318140-T-A 9480531-T-A ***
8218013-TTTTC-A,T 8349972-TTTTC-A,T 15×TTTC***

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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