Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > FGC3213 > ZZ1 > S3058 > S424 > S426 > S190 > FGC3215 > FGC3216 > FGC3197 > FGC3198 > FGC7854

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 STRFB38
251118-A
BigY2
251118
BigY3
251118
Manual
Edits
3927225-A-G 4059184-A-G A*
28808211-C-A 26662064-C-A A*
10794313-C-T A*
20346308-G-T 18184422-G-T P5_Dst A*
20866734-G-A 18704848-G-A P4_Dst A*
22587865-A-T 20425979-A-T FT82211 YY++
10944666-ATCCACTCCATTCCATTCCACTTCA-CTCCACTCCATTCCATTCCACTTCACC +
6483040-G-T 6614999-G-T *
10882078-C-CCCATT,CCCATTCCACCCCATT *
13448640-ATTCCATTCCATTCCAT-A,ATTCCATTCCAT 11292964-ATTCCATTCCATTCCAT-A,ATTCCATTCCAT *
13449764-TATTCCATTCT-CATTCCATTCC 11294088-TATTCCATTCT-CATTCCATTCC *
13693545-TA-AG 11537869-TA-AG *
16340147-G-GA,TA 14228267-G-GA,TA 22×A*
56831760-CAT-CAA,GAC *
56832038-CGT-AGC *
56832494-CCGCACTC-CTG,GTGCGCTC *
56833862-CTCCAA-A,CTCCAC *
56873406-A-C,CAA *
22441951-TAA-CCA,TCT 20280065-TAA-CCA,TCT DYZ19 *
24798508-GT-G 22652361-GT-G P3_b2 13×T*
25174765-G-A 23028618-G-A g1 *
22487858-T-A 20325972-T-A DYZ19 **
6328305-GCA-G 6460264-GCA-G IR3_Dst **
18011005-CTT-C 15899125-CTT-C P7_Dst 20×T**
22230319-T-C 20068433-T-C DYZ19 **
58854604-A-T 56736267-T-A **
22230394-C-G 20068508-C-G BY6856 DYZ19 **
27443549-G-GC 25297402-G-GC FGCLR204 P1_Y2 **
5650593-AACAC-A 5782552-AACAC-A 18×AC**
22483940-AA-GG 20322054-AA-GG DYZ19 **
22235847-G-T 20073961-G-T FT453482 DYZ19 **
3627671-GAA-G 3759630-GAA-G **
19839616-G-T 17727736-G-T P5_Prx 26×A**
9732923-C-A 9895314-C-A IR3_Prx **
15365115-C-A 13253235-C-A **
13460513-G-T 11304837-G-T **
16539804-G-T 14427924-G-T A19119 **
3606193-C-A 3738152-C-A **
22240726-G-T 20078840-G-T DYZ19 **
56763541-G-T **
21753978-G-T **
11005134-C-A FT263024 **
22008569-C-A 19846683-C-A **
8333707-C-A 8465666-C-A **
11029410-C-A **
28816028-A-T 26669881-A-T **
20045208-CAAA-C 17933328-CAAA-C P5_Prx 30×A**
10894100-C-A **
13460462-G-T 11304786-G-T **
6977131-C-A 7109090-C-A **
10754973-A-C **
15320753-C-A 13208871-C-A **
3028920-G-A 3160879-G-A **
4749622-G-T 4881581-G-T **
8636013-C-A 8767972-C-A **
10754063-T-C **
11001920-T-C **
11001921-T-G **
13460434-T-C 11304758-T-C **
13460456-C-G 11304780-C-G **
13460464-A-T 11304788-A-T **
13536314-G-T 11380638-G-T **
14358055-C-T 12237350-C-T **
15163422-C-T 13051508-C-T **
16354860-T-C 14242980-T-C **
17616634-T-C 15504754-T-C **
20850538-C-A 18688652-C-A P4_Dst **
24439610-C-A 22293463-C-A **
56840644-T-C **
19949692-G-T 17837812-G-T P5_Prx **
20301084-T-C 18139198-T-C P5_Dst **
6233655-C-A 6365614-C-A IR3_Dst **
6240927-G-T 6372886-G-T IR3_Dst **
19579437-G-T 17467557-G-T P5_Prx **
25991259-T-C 23845112-T-C P1_Y1 **
27838034-G-T 25691887-G-T P1_Y2 **
27963610-C-G 25817463-C-G P1_Y2 **
6113024-A-T 6244983-A-T **
6121949-G-T 6253908-G-T **
6124846-C-A 6256805-C-A **
6133283-G-C 6265242-G-C **
18039363-GTAAT-TTAA 15927483-GTAAT-TTAA **
23488835-AAAAA-T 21326949-AAAAA-T **
21753345-TACC-CACT **
56763557-G-T **
9709797-T-C 9872188-T-C IR3_Prx **
16146474-AAAAGA-GAAAAG 14034594-AAAAGA-GAAAAG P8_Dst **
19803096-T-A 17691216-T-A P5_Prx **
20084056-CTA-C 17972176-CTA-C P5_Dst **
20115567-C-A 18003687-C-A P5_Dst **
20218986-C-G 18057100-C-G P5_Dst **
20227107-C-T 18065221-C-T P5_Dst **
20377933-T-C 18216047-T-C P5_Dst **
22235836-CTAACCT-AGCACCA 20073950-CTAACCT-AGCACCA DYZ19 **
22270391-AT-GC 20108505-AT-GC DYZ19 **
22270448-A-G 20108562-A-G DYZ19 **
22289232-TATCC-AGTCA 20127346-TATCC-AGTCA DYZ19 **
22358241-G-A 20196355-G-A DYZ19 **
22359123-G-C 20197237-G-C DYZ19 **
22359140-TCAG-ACAC 20197254-TCAG-ACAC DYZ19 **
22459722-C-T 20297836-C-T DYZ19 **
22475213-A-C 20313327-A-C DYZ19 **
22490572-TAAG-AAAC 20328686-TAAG-AAAC DYZ19 **
21776881-G-GA **
24575424-C-T 22429277-C-T P3_t2 **
25658011-GTTTTT-G 23511864-GTTTTT-G P1_b3 24×T**
26275051-GA-G 24128904-GA-G P1_Y1 12×A**
26303567-CAA-C 24157420-CAA-C P1_Y1 30×A**
27151774-C-CAA 25005627-C-CAA P1_g3 30×A**
27380585-TC-T 25234438-TC-T P1_g3 **
27442782-G-GTT 25296635-G-GTT P1_Y2 11×T**
27545870-G-A 25399723-G-A P1_Y2 **
27864385-T-C 25718238-T-C P1_Y2 **
26880149-TCTC-T 24734002-TCTC-T P1_r3 6×CTC**
22487833-G-A 20325947-G-A DYZ19 ***
26025621-CTT-C 23879474-CTT-C P1_Y1 15×T***
28132475-C-CT 25986328-C-CT P1_b4 15×T***
22487828-G-T 20325942-G-T DYZ19 ***
27760106-CA-C 25613959-CA-C P1_Y2 16×A***
28225582-G-GT 26079435-G-GT P1_b4 14×T***
20508989-TAG-T 18347103-TAG-T P5_Dst 8×AG***
22171305-G-T 20009419-G-T ***
26508060-C-T 24361913-C-T P1_Y1 ***
9354929-G-A 9517320-G-A ***
9199163-T-C 9361554-T-C FT390291 ***
24648519-A-G 22502372-A-G P3_b2 ***
21561310-C-A 19399424-C-A ***
22484000-T-A 20322114-T-A F25203 DYZ19 ***
22447615-G-T 20285729-G-T DYZ19 ***
9671339-C-CT 9833730-C-CT IR3_Prx 14×T***
9345834-G-A 9508225-G-A ***
15163398-C-A 13051484-C-A ***
15163399-A-G 13051485-A-G ***
20211758-AT-A,ATT 18049872-AT-A,ATT P5_Dst 14×T***
22509231-G-C 20347345-G-C DYZ19 ***
24573423-CT-C 22427276-CT-C P3_t2 21×T***
22230405-A-G 20068519-A-G BY6909 DYZ19 ***
22279732-A-T 20117846-A-T BY25044 DYZ19 ***
22508049-C-G 20346163-C-G DYZ19 ***
18933532-C-A 16821652-C-A ***
15281075-C-A 13169174-C-A ***
22359187-T-A 20197301-T-A DYZ19 ***
21235227-CAAA-C,CAA 19073341-CAAA-C,CAA 19×A***
13463949-T-TC 11308273-T-TC 8×C******
18547340-TAA-T 16435460-TAA-T 12×A***
16768601-CTTTT-C,CTTT 14656721-CTTTT-C,CTTT 17×T***
5235405-CTTTT-C 5367364-CTTTT-C 31×T***
18195154-ATTTTTT-A 16083274-ATTTTTT-A 29×T***
15481864-C-A 13369984-C-A ***
23194817-CTTTTTTT-C 21032931-CTTTTTTT-C 24×T***
10690831-C-A ***
18717876-TAA-T,TA 16605996-TAA-T,TA 16×A***
22209024-G-T 20047138-G-T ***
19463639-C-A 17351759-C-A ***
15041597-TA-T 12929687-TA-T ***
15001743-C-A 12889828-C-A ***
10764575-C-A,T ***
10779281-C-A ***
15281077-C-A 13169176-C-A ***
10988574-CCATTCCACTC-C,CCACTCCACAG ***
17359309-C-A 15247429-C-A ***
2707975-GTTT-G,GTT 2839934-GTTT-G,GTT 18×T***
13489568-C-T 11333892-C-T ***
2805529-CAAAAA-C,CAA 2937488-CAAAAA-C,CAA 22×A***
8399388-A-G 8531347-A-G ***
9328988-G-A 9491379-G-A ***
10051247-T-C 10213638-T-C ***
13278611-T-C 11122935-T-C ***
14530881-C-T 12419082-C-T FT138476 ***
14731376-T-C 12619444-T-C ***
15001763-G-T 12889848-G-T ***
16623701-G-T 14511821-G-T ***
17648009-CAAAA-C,CAAAAA 15536129-CAAAA-C,CAAAAA 17×A***
23096773-C-A 20934887-C-A ***
23498080-ATTT-A,ATT 21336194-ATTT-A,ATT 19×T***
24509498-T-A 22363351-T-A ***
27647643-G-A 25501496-G-A P1_Y2 ***
22359529-T-G 20197643-T-G BY51691 DYZ19 ***
28343506-G-A 26197359-G-A P1_gr2 ***
19922815-GT-G 17810935-GT-G P5_Prx 12×T***
23098816-CAAA-C,CA 20936930-CAAA-C,CA 25×A***
22510927-T-G 20349041-T-G DYZ19 ***
27202351-G-T 25056204-G-T P1_g3 ***
27772643-TAA-T 25626496-TAA-T P1_Y2 21×A***
25166712-ATTTT-A 23020565-ATTTT-A g1 30×T***
20470034-ATTTT-A 18308148-ATTTT-A P5_Dst 29×T***
22450159-C-G 20288273-C-G DYZ19 ***
22358343-G-A 20196457-G-A DYZ19 ***
27724383-C-CT 25578236-C-CT P1_Y2 12×T***
7149640-TT-T,TA 7281599-TT-T,TA ***
13246600-T-C 11090924-T-C ***
13448620-A-T 11292944-A-T ***
18438210-CA-C 16326330-CA-C P6_Dst 25×A***
7414277-CA-C,CAA 7546236-CA-C,CAA 27×A***
10087536-C-A 10249927-C-A ***
10678015-AGGATTGCTTTCCATTGCAT-TGGACTGCGTTCCAC ***
14071348-ACCCGACTTT-TCCTGAC,TCCTGACTT 11950642-ACCCGACTTT-TCCTGAC,TCCTGACTT ***
12555882-CAAA-C,CAAAA 24×A***
15683628-CAA-C,CA 13571748-CAA-C,CA 24×A***
15733879-CA-C,CAA 13621999-CA-C,CAA 25×A***
17569226-GA-G,GAA 15457346-GA-G,GAA 25×A***
19409391-CA-C,CAA 17297511-CA-C,CAA 22×A***
21175749-CA-C,CAA 19013863-CA-C,CAA 27×A***
23505518-AC-AAAAA,C 21343632-AC-AAAAA,C ***
56851226-TG-GA,GG ***
16118279-CA-C 14006399-CA-C P8_Prx 27×A***
16160111-A-G 14048231-A-G P8_Dst ***
18514180-G-T 16402300-G-T P6_Dst ***
20116210-A-T 18004330-A-T P5_Dst ***
20206746-C-G 18044860-C-G P5_Dst ***
20287308-G-A 18125422-G-A P5_Dst ***
20381020-C-A 18219134-C-A P5_Dst ***
21922080-CAAA-C,CAAAA 19760194-CAAA-C,CAAAA 23×A***
22230379-T-C 20068493-T-C BY51316 DYZ19 ***
22230389-A-C 20068503-A-C DYZ19 ***
22266014-A-C 20104128-A-C DYZ19 ***
22294568-TCA-CCT 20132682-TCA-CCT DYZ19 ***
22298393-ACTTC-TCTTT 20136507-ACTTC-TCTTT DYZ19 ***
22315932-GTTAAAGG-CTTATAGT 20154046-GTTAAAGG-CTTATAGT DYZ19 ***
22358280-GTG-ATT 20196394-GTG-ATT DYZ19 ***
22358375-C-A 20196489-C-A DYZ19 ***
22359198-A-T 20197312-A-T DYZ19 ***
22359544-G-T 20197658-G-T DYZ19 ***
22361571-C-T 20199685-C-T DYZ19 ***
22361933-G-A 20200047-G-A DYZ19 ***
22459686-C-T 20297800-C-T DYZ19 ***
22466440-C-A 20304554-C-A DYZ19 ***
22483967-TTTT-CTTC 20322081-TTTT-CTTC DYZ19 ***
22486908-AT-GC 20325022-AT-GC DYZ19 ***
22508009-GATT-CATG,TATG 20346123-GATT-CATG,TATG DYZ19 ***
21755924-A-C ***
24581221-T-A 22435074-T-A P3_t2 ***
25280364-CTACT-ATAC,CTAC 23134217-CTACT-ATAC,CTAC P2_r1 ***
25378478-A-T 23232331-A-T P2_r2 ***
25410424-A-G 23264277-A-G P2_r2 ***
25667964-G-C 23521817-G-C P1_b3 ***
27153890-C-T 25007743-C-T P1_g3 ***
27415944-G-A 25269797-G-A P1_g3 ***
27493035-TGCCAA-CGCCCG 25346888-TGCCAA-CGCCCG P1_Y2 ***
27493053-T-C 25346906-T-C P1_Y2 ***
27493134-G-A 25346987-G-A P1_Y2 ***
27542427-A-C 25396280-A-C P1_Y2 ***
27542530-T-C 25396383-T-C P1_Y2 ***
27609587-CA-C 25463440-CA-C P1_Y2 10×A***
27630540-T-G 25484393-T-G P1_Y2 ***
27652361-T-C 25506214-T-C P1_Y2 ***
27807386-C-A 25661239-C-A P1_Y2 ***
28000577-A-G 25854430-A-G P1_Y2 ***
28157262-AT-A,ATT 26011115-AT-A,ATT P1_b4 16×T***
28245422-CTT-C 26099275-CTT-C P1_b4 15×T***
28343459-CC-GG 26197312-CC-GG P1_gr2 ***
28348163-A-T 26202016-A-T P1_gr2 ***
28350995-G-A 26204848-G-A P1_gr2 ***
28354032-G-A 26207885-G-A P1_gr2 ***
28362961-C-A 26216814-C-A P1_gr2 ***
28378262-CAAGC-TAAGG 26232115-CAAGC-TAAGG P1_gr2 ***
28387885-G-A 26241738-G-A P1_gr2 ***
28387892-C-T 26241745-C-T P1_gr2 ***
28392496-G-T 26246349-G-T P1_gr2 ***
28392537-G-A 26246390-G-A P1_gr2 ***
28405052-G-C 26258905-G-C P1_gr2 ***
28415802-A-C 26269655-A-C P1_gr2 ***

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual19675596-G-C17563716-G-C3A 409C 432G
Manual23761608-A-AAAG21599722-A-AAAGAbout 10 reads cover this insertion and all 10 look positive.
Manual20007955-A-G17896075-A-G2G