Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > DF49/S474 > FGC11210 > FGC11163 > ZZ33 > FGC11203 > A12271 > BY41377

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
15874245-T-G 13762365-T-G YY+
8272480-TGGTGTTCA-T 8404439-TGGTGTTCA-T +
13669940-C-T 11514264-C-T BY87763 +
16342256-A-AGAAG 14230376-A-AGAAG 7×GAAG+
16524258-A-C 14412378-A-C BY108370 YY+
16903925-A-C 14792045-A-C BY110987 YY+
17974824-C-T 15862944-C-T BY118853 Y+
22087970-G-A 19926084-G-A BY137543 YY+
16305913-A-C 14194033-A-C YY*
7927218-C-T 8059177-C-T M3473 PF2868 YY*
24399592-C-A 22253445-C-A Y*
19562651-G-A 17450771-G-A CTS10607 **
14886357-C-T 12774423-C-T A20860P98 **
3436218-G-A 3568177-G-A L705L706 **
18717812-A-G 16605932-A-G **
3436225-T-A 3568184-T-A **
7589937-G-A 7721896-G-A FT374073 **
8395781-T-C 8527740-T-C F130 M1561 **
8417425-T-C 8549384-T-C **
8566930-A-T 8698889-A-T **
9925961-G-C 10088352-G-C **
9982529-T-C 10144920-T-C **
13858249-C-A 11737543-C-A **
14352921-G-T 12232216-G-T FTB75943 **
14398383-C-A 12277679-C-A CTS2635 **
14515173-T-G 12403378-T-G PR1484 FT451935 **
14529518-G-T 12417719-G-T CTS2861 M1594 **
15718964-G-C 13607084-G-C **
15718966-C-G 13607086-C-G **
15894763-G-T 13782883-G-T **
15921724-C-A 13809844-C-A **
16019278-G-T 13907398-G-T **
16698481-G-A 14586601-G-A CTS6146 M9181 **
17387296-A-C 15275416-A-C **
18098825-T-C 15986945-T-C **
18098885-G-C 15987005-G-C PR6147 **
21528350-T-A 19366464-T-A PR6610 **
22722477-A-G 20560591-A-G S1565CTS10717 **
28464214-C-A 26318067-C-A **
10024558-G-C 10186949-G-C ***
13648936-C-CACGAA 11493260-C-CACGAA ***
13648954-G-A 11493278-G-A ***
13668024-T-A 11512348-T-A ***
13668069-A-G 11512393-A-G F18213 ***
13833909-T-A 11713203-T-A BY25814 ***
13846535-G-A 11725829-G-A ***
13846539-A-C 11725833-A-C ***
28802877-T-A 26656730-T-A ***
13446602-T-C 11290926-T-C ***
10031992-C-T 10194383-C-T ***
13801236-G-A,C 11680530-G-A,C ***
13745339-GGAACGGAATT-G 11589663-GGAACGGAATT-G ***
13816828-C-G 11696122-C-G ***
13453978-C-A 11298302-C-A ***
13659435-C-T 11503759-C-T ***
58908830-C-T 56682041-G-A ***
58982882-A-T 56836735-A-T ***
58982938-T-C 56836791-T-C ***
13450129-T-C 11294453-T-C ***
13813564-C-A 11692858-C-A ***
13458496-C-T 11302820-C-T BY49932 ***
13717222-G-A 11561546-G-A Z18386 BY7896 ***
13839625-G-T 11718919-G-T ***
28799802-G-T 26653655-G-T ***
13649008-T-C 11493332-T-C ***
13817920-C-A 11697214-C-A ***
13856667-G-C 11735961-G-C ***
28799726-T-A 26653579-T-A ***
28799797-G-T 26653650-G-T ***
13143897-A-C 10633383-A-C ***
28802892-TG-T 26656745-TG-T ***
58973941-CATTCT-C 56827794-CATTCT-C ***
5471896-A-AAAAGAAAG 5603855-A-AAAAGAAAG 17×AAAG***
8426377-GCTT-G,GC 8558336-GCTT-G,GC 22×CTT***
13447057-G-A 11291381-G-A ***
13668091-G-A 11512415-G-A ***
13668101-C-G 11512425-C-G ***
13668111-T-G 11512435-T-G ***
13835255-T-A,G 11714549-T-A,G ***
13805415-T-A 11684709-T-A ***
13805416-G-T 11684710-G-T ***
22244924-G-A 20083038-G-A DYZ19 ***
22483469-G-T 20321583-G-T DYZ19 ***
13453942-T-G 11298266-T-G ***
13855635-C-G 11734929-C-G ***
13459627-G-C,T 11303951-G-C,T ***
24417154-G-A 22271007-G-A ***
13841245-G-T 11720539-G-T ***
13454851-C-T 11299175-C-T ***
13648974-G-A 11493298-G-A ***
13839918-A-G 11719212-A-G ***
13691193-C-A 11535517-C-A FT448646 ***
20288983-A-AG 18127097-A-AG P5_Dst ***
20602012-G-A 18440126-G-A P5_Dst ***
24198919-CTG-C 22052772-CTG-C P3_b1 ***
13449321-C-A 11293645-C-A ***
13863759-GAACTGTGTAC-G 11743053-GAACTGTGTAC-G ***
13545303-G-GAA 11389627-G-GAA ***
9750099-AT-A 9912490-AT-A 10×T***
13660513-A-G 11504837-A-G ***
14612234-G-T 12500440-G-T ***
13833892-C-G 11713186-C-G FGC71501 ***
13447072-C-T 11291396-C-T ***
13447331-C-A 11291655-C-A ***
13676263-G-A 11520587-G-A ***
13676270-T-A 11520594-T-A ***
10019452-GA-G 10181843-GA-G ***
13740761-G-C,T 11585085-G-C,T ***
13830092-C-A 11709386-C-A ***
28808563-T-A 26662416-T-A ***
8333590-T-C 8465549-T-C ***
13676620-G-A 11520944-G-A ***
17794253-G-GTTCT,T 15682373-G-GTTCT,T 10×TTCT***
13686865-A-T 11531189-A-T ***
13817935-C-A 11697229-C-A ***
13195064-G-T 11039388-G-T ***
28802895-A-C 26656748-A-C ***
13648876-A-C 11493200-A-C ***
13648877-T-A 11493201-T-A ***
13142250-C-T 10631736-C-T ***
26204094-AT-A 24057947-AT-A P1_Y1 10×T***
13453318-G-C,T 11297642-G-C,T 12×CATTC***
13830194-T-G 11709488-T-G FT236402 ***
25953249-C-A 23807102-C-A P1_Y1 ***
10007100-C-T 10169491-C-T ***
13715544-G-T 11559868-G-T ***
13744060-G-T 11588384-G-T ***
15426311-A-G 13314431-A-G PR1805 FT76418 ***
15426341-A-G 13314461-A-G ***
15426344-C-A 13314464-C-A ***
22491094-G-C 20329208-G-C DYZ19 ***
24749662-A-G 22603515-A-G FGC61358 P3_b2 ***
13648987-T-A 11493311-T-A ***
22506768-T-G 20344882-T-G DYZ19 ***
18479588-GA-G 16367708-GA-G P6_Dst 11×A***
8979107-T-C 9141498-T-C ***
13648993-G-A 11493317-G-A BY86988 ***
24773510-GGT-G 22627363-GGT-G P3_b2 8×GT***
58908927-C-G 56681944-G-C ***
58830453-G-C 56760418-C-G 4×CATTC***
13803234-T-A 11682528-T-A ***
13698958-G-A 11543282-G-A ***
13865860-G-T 11745154-G-T ***
13865861-A-C 11745155-A-C ***
28143480-CT-C 25997333-CT-C P1_b4 10×T***
13936147-G-C 11815441-G-C ***
13936159-A-G 11815453-A-G ***
6225989-C-CTTCTTTCT 6357948-C-CTTCTTTCT IR3_Dst 13×TTCT***
13862058-T-A,G 11741352-T-A,G ***
5471900-G-A 5603859-G-A ***
6182796-TGATTA-G 6314755-TGATTA-G IR3_Dst ***
6837868-A-C 6969827-A-C ***
6943717-ACTCTGT-G 7075676-ACTCTGT-G ***
6961447-T-C 7093406-T-C ***
7105709-CGT-C 7237668-CGT-C ***
7251313-C-T 7383272-C-T CTS1173 ***
8530893-AT-A 8662852-AT-A 9×T***
8703052-T-G 8835011-T-G M5422 PF1561 V2471 ***
8794264-G-T 8926223-G-T ***
9189278-TCAAAA-T 9351669-TCAAAA-T 6×CAAAA***
9232404-CGGGAGT-G 9394795-CGGGAGT-G ***
9964881-T-A 10127272-T-A ***
9966443-T-A 10128834-T-A ***
9986423-A-G,T 10148814-A-G,T ***
10020842-T-A 10183233-T-A ***
10032083-C-T 10194474-C-T BY83188 ***
13139207-C-T 10628693-C-T ***
13139319-C-T 10628805-C-T ***
13139320-C-G 10628806-C-G ***
13299065-C-T 11143389-C-T ***
13452618-T-C 11296942-T-C ***
13453263-C-T 11297587-C-T ***
13458782-A-T 11303106-A-T ***
13462731-C-T 11307055-C-T BY47068 ***
13482679-C-T 11327003-C-T BY86102 FT30067 ***
13660507-T-A 11504831-T-A ***
13660508-C-G 11504832-C-G ***
13664417-TGGAATGAAAC-T 11508741-TGGAATGAAAC-T ***
13668017-AATGGT-A 11512341-AATGGT-A ***
13687406-C-T 11531730-C-T ***
13703520-C-G 11547844-C-G ***
13748477-A-G 11592801-A-G 6×GAATG***
13808053-A-T 11687347-A-T ***
13815557-G-T 11694851-G-T ***
13841891-G-T 11721185-G-T ***
13842203-G-A 11721497-G-A ***
13852741-C-A 11732035-C-A Z1141 ***
13861716-T-G 11741010-T-G ***
13861737-C-G 11741031-C-G ***
13861746-T-C 11741040-T-C ***
13861775-C-T 11741069-C-T BY91560 ***
13862658-T-A 11741952-T-A ***
13868775-T-G 11748069-T-G ***
14263487-AAAACTGC-A 12142781-AAAACTGC-A ***
14407169-CT-G 12286467-CT-G 16×T***
14492224-A-T 12380421-A-T ***
14492241-C-T 12380438-C-T PR5137 ***
14624294-C-G,T 12512494-C-G,T ***
14886386-C-T 12774452-C-T P99 ***
15092687-G-C 12980776-G-C ***
15496707-AGTAATAC-A 13384827-AGTAATAC-A ***
15981818-C-T 13869938-C-T ***
16249163-A-G 14137283-A-G YSC0000779 ***
16405118-A-T 14293238-A-T ***
16903748-T-A 14791868-T-A ***
17383844-AGATGT-A 15271964-AGATGT-A ***
17599184-G-T 15487304-G-T BY57095 ***
18008645-C-CTT 15896765-C-CTT P7_Dst 30×T***
18365052-CATAAGTTAAAA-C 16253172-CATAAGTTAAAA-C P6_Prx ***
18639018-A-C,T 16527138-A-C,T 26×GT***
19445251-CCGCA-C 17333371-CCGCA-C ***
19575893-TTCTC-T 17464013-TTCTC-T P5_Prx 19×TC***
22099633-TTTA-T,TT 19937747-TTTA-T,TT 16×TTA***
22147834-C-A 19985948-C-A ***
22147849-C-A 19985963-C-A ***
22226170-TA-T 20064284-TA-T DYZ19 ***
22243418-T-A 20081532-T-A DYZ19 ***
22261983-G-T 20100097-G-T DYZ19 ***
22272502-T-C 20110616-T-C FGC27622 DYZ19 ***
22306090-A-C 20144204-A-C DYZ19 ***
22337073-GT-G 20175187-GT-G DYZ19 ***
22340942-A-T 20179056-A-T DYZ19 ***
22340946-C-T 20179060-C-T PF1153 DYZ19 ***
22437770-T-A 20275884-T-A FT456217 DYZ19 ***
22438479-G-A 20276593-G-A DYZ19 ***
22452015-G-T 20290129-G-T DYZ19 ***
22459814-T-G 20297928-T-G A8220 DYZ19 ***
22489983-G-T 20328097-G-T DYZ19 ***
23662619-AGT-A 21500733-AGT-A ***
23988000-G-GCA 21841853-G-GCA 11×CA***
24004092-GACAGA-G 21857945-GACAGA-G 4×ACAGA***
24105838-GGAAAAATAACC-G 21959691-GGAAAAATAACC-G P3_b1 ***
24202215-T-C 22056068-T-C P3_b1 ***
24217239-TTAGAAA-T 22071092-TTAGAAA-T P3_b1 ***
24560976-A-T 22414829-A-T P3_t2 ***
25055933-C-G 22909786-C-G g1 ***
25199104-AGGCTGTATCT-A 23052957-AGGCTGTATCT-A g1 ***
25212145-CT-C 23065998-CT-C P2_r1 10×T***
25347033-A-T 23200886-A-T P2_r1 ***
25363802-T-A 23217655-T-A P2_r2 ***
25657077-A-AT 23510930-A-AT P1_b3 12×T***
26015325-CAT-C 23869178-CAT-C P1_Y1 ***
27372787-A-C 25226640-A-C P1_g3 ***
27732475-G-GA 25586328-G-GA P1_Y2 11×A***
27791818-T-A 25645671-T-A P1_Y2 ***
28802898-A-AG 26656751-A-AG ***
58823383-C-T 56767488-G-A ***
58824970-G-C 56765901-C-G ***
58829467-C-T 56761404-G-A 4×CCATT***
58908836-A-G 56682035-T-C ***
58980502-C-T 56834355-C-T ***
13716711-G-GGATTC 11561035-G-GGATTC ***
7204312-CA-C 7336271-CA-C ***
10019471-A-AAGAGAG 10181862-A-AAGAGAG ***
25200792-AGAAG-A 23054645-AGAAG-A g1 9×GAAG***
13458776-CTGTTG-A,C 11303100-CTGTTG-A,C ***
58908843-C-CGCACT,T 56682028-G-A,AGTGCG 12×CCATT***
13451234-CTCCAT-C,CTCCAC 11295558-CTCCAT-C,CTCCAC ***
13680949-T-A,TGGAATTGAAA 11525273-T-A,TGGAATTGAAA ***
28787069-GC-AG,G 26640922-GC-AG,G ***

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.