Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z193 > Z40483 > FGC5033

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
6109180-T-C 6241139-T-C A*
6112819-C-G 6244778-C-G A*
6150071-C-T 6282030-C-T IR3_Dst A*
13698596-T-A 11542920-T-A A*
19950628-T-C 17838748-T-C P5_Prx A*
20721878-A-G 18559992-A-G P4_Prx A*
25934681-G-C 23788534-G-C P1_Y1 A*
26184055-C-T 24037908-C-T P1_Y1 A*
28817243-G-A 26671096-G-A A*
28795070-G-A 26648923-G-A PF4085 +
17413048-C-T 15301168-C-T BY114577 YY+
6946307-T-C 7078266-T-C BY166012 YY+
7551855-C-A 7683814-C-A BY166134 YY+
8162806-G-A 8294765-G-A BY166308 YY+
8541825-A-G 8673784-A-G BY166454 YY+
8609850-C-A 8741809-C-A BY166479 YY+
8677704-A-G 8809663-A-G BY166506 YY+
9107421-G-A 9269812-G-A BY166622 Y+
9730322-G-A 9892713-G-A BY166695 IR3_Prx +
9742925-A-C 9905316-A-C BY166701 +
15473026-CA-C 13361146-CA-C +
16799173-C-T 14687293-C-T BY167395 YY+
17339972-A-G 15228092-A-G BY167543 YY+
17404664-T-C 15292784-T-C BY167572 YY+
17490877-T-C 15378997-T-C BY167596 YY+
17763617-C-T 15651737-C-T BY167681 YY+
18096895-T-A 15985015-T-A BY167800 YY+
18401388-G-T 16289508-G-T BY167857 P6_Gap +
19545924-G-T 17434044-G-T BY168168 YY+
21222420-T-C 19060534-T-C BY168229 YY+
21291856-G-T 19129970-G-T BY168255 YY+
21825498-A-G 19663612-A-G BY168418 YY+
22188591-G-A 20026705-G-A BY138321 YY+
22213027-T-C 20051141-T-C BY168523 Y+
22262874-CA-C 20100988-CA-C DYZ19 +
22424319-A-G 20262433-A-G BY217880 DYZ19 +
22462643-A-T 20300757-A-T BY220949 DYZ19 +
22468210-C-A 20306324-C-A FT458888 DYZ19 +
23070182-T-A 20908296-T-A BY168661 YY+
23510096-A-G 21348210-A-G BY168755 YY+
23870356-T-C 21708470-T-C BY168836 Y+
28813445-C-G 26667298-C-G BY30906 +
22288914-G-T 20127028-G-T DYZ19 *
17275004-A-AGAT 15163124-A-AGAT *
22299190-A-T 20137304-A-T DYZ19 *
25447308-TGTA-T 23301161-TGTA-T P2_r2 5×GTA**
6753384-T-C 6885343-T-C L1064 **
6953311-A-T 7085270-A-T PF4503 CTS687 **
13718511-A-G 11562835-A-G **
18534059-C-T 16422179-C-T P6_Dst **
9330917-C-T 9493308-C-T **
25447266-G-A 23301119-G-A P2_r2 **
10763059-T-A **
7828882-C-A 7960841-C-A **
28496905-C-A 26350758-C-A **
10845686-C-T **
13891010-C-A 11770304-C-A **
17289731-C-A 15177851-C-A **
28479748-C-A 26333601-C-A **
24381346-C-A 22235199-C-A **
7338182-C-A 7470141-C-A **
15336507-A-G 13224625-A-G **
15336545-T-C 13224663-T-C **
7021727-G-T 7153686-G-T **
9508018-G-T 9670409-G-T **
23552763-G-A 21390877-G-A **
10646010-T-G **
10646011-C-T **
19266745-C-A 17154865-C-A **
10978966-T-G **
8046456-C-A 8178415-C-A **
9075445-C-A 9237836-C-A **
10961411-C-A **
7321465-CAAA-C 7453424-CAAA-C 13×A**
10782288-C-A **
6085938-C-A 6217897-C-A **
14049926-C-A 11929220-C-A **
10773575-C-A **
16867576-C-A 14755696-C-A **
7261176-C-A 7393135-C-A **
15366459-C-A 13254579-C-A **
16631462-ATTT-A 14519582-ATTT-A 14×T**
14227523-C-A 12106817-C-A **
14238498-A-G 12117792-A-G **
22800633-T-C 20638747-T-C FT161574 **
10840999-C-A **
7281135-G-T 7413094-G-T **
17760384-C-A 15648504-C-A **
18994399-C-A 16882519-C-A **
16441086-C-A 14329206-C-A **
9026053-G-T 9188444-G-T **
10843979-G-T FT433747 **
23380343-C-A 21218457-C-A **
10776082-C-A **
14488551-C-A 12367820-C-A **
2663684-GTTTA-G 2795643-GTTTA-G 6×TTTA**
14700238-A-G 12588304-A-G **
15336568-A-G 13224686-A-G **
15011870-C-A 12899958-C-A **
13454436-C-A 11298760-C-A **
17832458-C-A 15720578-C-A **
7411538-C-A 7543497-C-A **
22067585-C-A 19905699-C-A **
21531387-C-A 19369501-C-A **
7963073-G-T 8095032-G-T **
15279043-G-A 13167142-G-A **
8398839-GCA-G 8530798-GCA-G **
6981416-T-A 7113375-T-A **
14720912-C-A 12608980-C-A **
15336581-T-C 13224699-T-C **
15336585-A-T 13224703-A-T **
16506353-C-A 14394473-C-A **
21146374-G-A 18984488-G-A **
16342114-C-A 14230234-C-A **
2682712-A-C 2814671-A-C **
2945395-G-T 3077354-G-T **
3079401-CAAAA-C 3211360-CAAAA-C **
3374100-T-A 3506059-T-A **
4074016-C-T 4205975-C-T **
4075979-T-C 4207938-T-C **
4197830-G-T 4329789-G-T **
4197916-G-T 4329875-G-T **
4887476-G-T 5019435-G-T **
5761518-A-G 5893477-A-G **
6225974-T-C 6357933-T-C IR3_Dst **
6335338-T-A 6467297-T-A IR3_Dst **
6335374-T-A 6467333-T-A IR3_Dst **
6335392-T-A 6467351-T-A IR3_Dst **
6335397-G-C 6467356-G-C IR3_Dst **
6753373-G-T 6885332-G-T **
6861604-C-A 6993563-C-A **
7111134-C-G 7243093-C-G **
7187687-G-A 7319646-G-A **
7197188-G-A 7329147-G-A **
7281113-T-A 7413072-T-A **
7412866-G-T 7544825-G-T **
7498507-A-G 7630466-A-G IR1_L **
7537184-T-C 7669143-T-C FT159576 **
7615141-C-A 7747100-C-A **
8677019-C-A 8808978-C-A **
8748606-C-T 8880565-C-T FT159842 **
9564414-T-A 9726805-T-A IR3_Prx **
9564425-A-T 9726816-A-T IR3_Prx **
9564436-G-C 9726827-G-C IR3_Prx **
9917247-G-T 10079638-G-T **
10625016-T-C **
10687895-C-A **
10776099-C-CCACT **
10806145-C-A **
10879719-C-T **
10927608-C-G **
10946216-C-A **
10961418-T-TCTTAC **
10978961-T-C **
10991655-C-A FT439479 **
10999184-T-C **
11030783-A-T **
11030799-TTCCAC-T **
13198599-C-A 11042923-C-A **
13208675-C-A 11052999-C-A **
13215396-C-T 11059720-C-T **
13556301-C-A 11400625-C-A **
11643522-T-C **
13854823-A-G 11734117-A-G **
13854828-A-G 11734122-A-G **
14105372-C-A 11984666-C-A **
14330931-C-A 12210225-C-A BY94941 **
14368067-G-A 12247363-G-A **
14392850-C-A 12272146-C-A **
14413771-C-A 12293068-C-A **
14527116-G-A 12415317-G-A **
14700237-C-T 12588303-C-T **
14700244-T-C 12588310-T-C **
14700245-G-A 12588311-G-A **
14746141-C-A 12634210-C-A **
14750070-G-T 12638139-G-T **
14807223-CG-C 12695294-CG-C **
14823753-T-C 12711820-T-C **
14825979-C-A 12714046-C-A **
14845529-G-A 12733595-G-A **
14985020-C-A 12873088-C-A **
15161481-A-G 13049567-A-G **
15258482-T-A 13146566-T-A **
15279011-G-A 13167110-G-A **
15336479-A-G 13224597-A-G **
15336486-G-A 13224604-G-A **
15336524-G-T 13224642-G-T **
15336529-T-A 13224647-T-A **
15336560-T-AA 13224678-T-AA **
15336569-T-C 13224687-T-C **
15359443-C-A 13247563-C-A **
15365462-CT-C 13253582-CT-C **
15406950-A-G 13295070-A-G **
15743298-C-A 13631418-C-A **
15743607-T-C 13631727-T-C **
15770275-TG-T 13658395-TG-T **
16050971-T-A 13939091-T-A **
16276003-C-T 14164123-C-T **
16329044-G-C 14217164-G-C FT160524 **
16485844-G-A 14373964-G-A **
16539500-C-T 14427620-C-T **
16577055-C-A 14465175-C-A **
16783300-A-G 14671420-A-G FT160635 **
17275628-C-A 15163748-C-A **
17467073-A-C 15355193-A-C **
17478807-C-A 15366927-C-A **
17591689-C-A 15479809-C-A **
17703356-A-G 15591476-A-G **
17874146-T-C 15762266-T-C **
18706986-CT-C 16595106-CT-C **
18837557-C-A 16725677-C-A **
18908126-T-A 16796246-T-A **
18978665-A-G 16866785-A-G **
19001228-T-C 16889348-T-C **
19023391-T-A 16911511-T-A **
19462832-C-A 17350952-C-A **
19508207-C-A 17396327-C-A **
19932528-C-A 17820648-C-A P5_Prx **
20659830-G-T 18497944-G-T P4_Prx **
20712287-T-TAA 18550401-T-TAA P4_Prx 16×AC**
21093500-C-A 18931614-C-A **
21132739-T-G 18970853-T-G **
21411719-A-AC 19249833-A-AC **
21522050-C-A 19360164-C-A **
21863936-C-A 19702050-C-A **
21920433-T-C 19758547-T-C **
21988164-G-A 19826278-G-A **
22199294-A-G 20037408-A-G **
22283269-T-A 20121383-T-A DYZ19 **
22283279-T-A 20121393-T-A DYZ19 **
22564577-A-C 20402691-A-C **
22578248-A-G 20416362-A-G **
22808816-C-G 20646930-C-G **
22981575-G-T 20819689-G-T **
23648272-T-A 21486386-T-A **
23869788-C-A 21707902-C-A **
24249259-G-T 22103112-G-T P3_b1 **
24249264-C-A 22103117-C-A P3_b1 **
24249283-C-A 22103136-C-A P3_b1 **
24249298-C-A 22103151-C-A P3_b1 **
24249329-C-A 22103182-C-A P3_b1 **
24290707-G-A 22144560-G-A BY226037 P3_t1 **
24336433-G-T 22190286-G-T P3_t1 **
24336440-G-T 22190293-G-T P3_t1 **
24336457-G-T 22190310-G-T P3_t1 **
24336478-A-T 22190331-A-T P3_t1 **
24415913-A-G 22269766-A-G **
24485408-C-A 22339261-C-A **
25394372-G-T 23248225-G-T P2_r2 **
25394383-G-T 23248236-G-T P2_r2 **
25394392-C-A 23248245-C-A P2_r2 **
25394398-G-T 23248251-G-T P2_r2 **
25447272-A-G 23301125-A-G P2_r2 **
26121130-A-T 23974983-A-T P1_Y1 **
26121176-A-T 23975029-A-T P1_Y1 **
26229959-ACTG-A 24083812-ACTG-A P1_Y1 **
26248103-A-AT 24101956-A-AT P1_Y1 **
27499310-CAAAAAAAA-C 25353163-CAAAAAAAA-C P1_Y2 30×A**
28508801-G-T 26362654-G-T **
28607953-C-A 26461806-C-A **
28716295-C-T 26570148-C-T **
28744103-C-A 26597956-C-A **
28756997-C-A 26610850-C-A **
56848595-C-A **
18144129-C-A 16032249-C-A ***
16245925-G-T 14134045-G-T ***
5957030-C-A 6088989-C-A ***
17515838-GA-G 15403958-GA-G 9×A***
7579152-C-A 7711111-C-A ***
17533824-G-GAA 15421944-G-GAA 21×A***
21490937-C-A 19329051-C-A ***
9520033-C-A 9682424-C-A ***
14840252-GT-G,GTT 12728319-GT-G,GTT 12×T***
10671094-C-T ***
10864601-C-A ***
21682327-C-A 19520441-C-A ***
3681208-G-T 3813167-G-T ***
4243118-A-G 4375077-A-G ***
4433743-C-A 4565702-C-A ***
4444552-T-C 4576511-T-C ***
6385730-G-T 6517689-G-T ***
6662977-C-A 6794936-C-A ***
6953521-C-A 7085480-C-A ***
7324992-T-TA 7456951-T-TA 9×A***
7783914-A-G 7915873-A-G ***
8840425-T-C 8972384-T-C ***
9231731-A-G 9394122-A-G ***
10038011-C-A 10200402-C-A ***
10978923-G-T ***
13676098-C-A 11520422-C-A ***
14036795-T-C 11916089-T-C ***
14232284-C-A 12111578-C-A ***
14972657-C-G 12860732-C-G ***
15985392-C-A 13873512-C-A ***
16416866-C-A 14304986-C-A ***
16420689-C-A 14308809-C-A ***
16679099-ATTTTT-A,ATT 14567219-ATTTTT-A,ATT 25×T***
17028659-C-A 14916779-C-A ***
17186726-TAAAAA-T,TAA 15074846-TAAAAA-T,TAA 19×A***
17313982-A-G 15202102-A-G ***
19361041-G-A 17249161-G-A ***
19430067-C-A 17318187-C-A ***
20379917-T-C 18218031-T-C P5_Dst ***
21695930-C-A 19534044-C-A ***
22103623-A-T 19941737-A-T ***
22581171-A-G 20419285-A-G ***
23207640-C-A 21045754-C-A ***
23544836-T-C 21382950-T-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.