Tree Position

R-P312/S116 > Z290 > L21/S145 > DF13 > DF21/S192 > Z30233 > FGC3903/S5201 > S5199 > Z246 > DF25 > DF5 > FGC15498 > CTS50

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 STR1kG
HG00242
7717787-T-C 7849746-T-C FGC31171 ZS5528 YY5×CTTC+
13616462-A-T 11460786-A-T +
13888692-T-TTG 11767986-T-TTG 9×TG+
13869149-AGAATGGAATG-A 11748443-AGAATGGAATG-A 12×GAATG+
13747192-T-C 11591516-T-C +
13686909-ACACG-A 11531233-ACACG-A +
13624344-A-ATG 11468668-A-ATG +
13620868-T-A 11465192-T-A +
13611492-C-T 11455816-C-T +
13906194-A-C 11785488-A-C Y+
13611436-C-T 11455760-C-T +
13611422-G-GA 11455746-G-GA +
13608745-C-A 11453069-C-A FGC23625 Z18683 +
13588222-ATAT-A 11432546-ATAT-A +
13570213-T-G 11414537-T-G +
13566972-TAC-T 11411296-TAC-T +
13902906-T-C 11782200-T-C M4509 YY+
13908787-T-G 11788081-T-G Y+
13529500-A-G 11373824-A-G +
15279220-G-T 13167319-G-T YY9×T+
15557159-ATATT-A 13445279-ATATT-A +
15557158-TATA-T 13445278-TATA-T +
15557157-ATATATT-A 13445277-ATATATT-A +
15557123-TAATATA-T 13445243-TAATATA-T +
15491941-G-GTA 13380061-G-GTA 19×TA+
15491909-ATG-A 13380029-ATG-A 16×TG+
15234909-T-C 13122995-T-C Y+
13950945-TTC-T 11830239-TTC-T +
15200250-A-C 13088336-A-C M5673 YY+
15035409-G-T 12923497-G-T YY+
14930890-G-A 12818955-G-A Z12623 YY+
14842406-ATTT-A 12730473-ATT-A 22×T+
14680809-AG-A 12568875-AG-A +
13951501-GTA-G 11830795-GTA-G 9×TA+
13545334-AGG-A 11389658-AGG-A +
13509296-G-C 11353620-G-C +
15557161-ATT-A 13445281-ATT-A +
13308969-T-C 11153293-T-C +
13374622-C-G 11218946-C-G +
13368271-C-T 11212595-C-T +
13367918-A-G 11212242-A-G +
13329873-G-A 11174197-G-A +
13323852-C-CTA 11168176-C-CTA +
13322455-C-CCA 11166779-C-CCA +
13289048-C-T 11133372-C-T +
13379781-G-A 11224105-G-A +
13289035-G-A 11133359-G-A +
13279940-G-A 11124264-G-A +
13276019-G-A 11120343-G-A +
13269484-A-G 11113808-A-G +
13264002-T-A 11108326-T-A +
13262792-C-T 11107116-C-T +
13379763-G-C 11224087-G-C +
13390795-C-A 11235119-C-A +
13509295-A-G 11353619-A-G +
13433194-A-AGGGAGGCCAAGAC 11277518-A-AGGGAGGCCAAGAC +
13507074-T-G 11351398-T-G +
13503429-T-C 11347753-T-C +
13501206-AGGCGTACACTACCACACCT-A 11345530-AGGCGTACACTACCACACCT-A +
13500604-A-T 11344928-A-T +
13433866-C-T 11278190-C-T +
13433195-G-GGGAGGCCGAGGCA 11277519-G-GGGAGGCCGAGGCA +
13413035-C-A 11257359-C-A +
13390797-G-A 11235121-G-A +
13403436-G-A 11247760-G-A +
13399342-C-T 11243666-C-T +
13399334-C-T 11243658-C-T +
13392517-T-A 11236841-T-A +
13392504-T-A 11236828-T-A +
13392439-A-C 11236763-A-C +
13392384-T-G 11236708-T-G +
15557160-TATTC-T 13445280-TATTC-T +
15780341-A-G 13668461-A-G S264/Z156S264 Z156 YY+
13252190-A-G 11096514-A-G +
23899726-C-A 21737840-C-A +
26120198-C-T 23974051-C-T P1_Y1 +
25173629-T-C 23027482-T-C g1 +
25173627-C-T 23027480-C-T g1 +
25173622-G-A 23027475-G-A g1 +
24841406-C-CTG 22695259-C-CTG P3_b2 23×TG+
24782770-T-G 22636623-T-G ZS5698 P3_b2 +
23899718-G-A 21737832-G-A +
28545696-C-CAAA 26399549-C-CAAA 26×A+
23316060-A-ATTTT 21154174-A-ATTTT +
23311196-T-C 21149310-T-C M9384 YY+
23293521-C-T 21131635-C-T YY+
23274739-CTT-C 21112853-CTT-C 18×T+
23098852-G-A 20936966-G-A YY+
22996966-TGG-T 20835080-TGG-T +
28534999-C-T 26388852-C-T +
58887928-C-A 56702943-G-T +
22476643-T-G 20314757-T-G DYZ19 +
59019546-ACACACAAG-A 56873399-ACACACAAG-A +
59030171-A-G 56884024-A-G +
59030170-A-G 56884023-A-G +
59028509-T-G 56882362-T-G +
59021932-T-TTC 56875785-T-TTC +
59019551-CAA-C 56873404-CAA-C +
59019547-CACACAA-C 56873400-CACACAA-C +
59019545-CACACACAA-C 56873398-CACACACAA-C +
58971884-GTACATATA-G 56825737-GTACATATA-G +
59019544-ACACACACAAG-A 56873397-ACACACACAAG-A +
59019543-CACACACACAA-C 56873396-CACACACACAA-C +
59019541-CACACACACACAA-C 56873394-CACACACACACAA-C +
59019536-ACACACACACACACACAAG-A 56873389-ACACACACACACACACAAG-A +
59008768-CTT-C 56862621-CTT-C 14×T+
59002264-A-AG 56856117-A-AG +
58971885-T-TAC 56825738-T-TAC +
22962008-G-GTTT 20800122-G-GTTT 27×T+
22476631-T-A 20314745-T-A DYZ19 +
16063227-C-T 13951347-C-T Y+
17203327-C-T 15091447-C-T YY21×T+
17770024-T-G 15658144-T-G S20182 YY+
17662049-TGTG-T 15550169-TGTG-T +
17662047-TGTGTG-T 15550167-TGTGTG-T +
17616966-C-CAAAA 15505086-C-CAAAA 35×A+
17383033-CAT-C 15271153-CAT-C +
17301261-AG-A 15189381-AG-A +
17203293-A-C 15091413-A-C YY+
18263883-G-A 16152003-G-A +
16868437-G-A 14756557-G-A YY+
16828625-C-A 14716745-C-A YY+
16572312-A-T 14460432-A-T YY+
16410142-G-T 14298262-G-T YY+
16340147-G-A 14228267-G-A YY22×A+
16237238-G-T 14125358-G-T YY+
18109406-A-T 15997526-A-T YY+
18296619-T-A 16184739-T-A P6_Prx +
22319024-TAAGA-T 20157138-TAAGA-T DYZ19 +
21227374-TC-T 19065488-TC-T +
22167919-T-C 20006033-T-C YY+
21720375-T-G 19558489-T-G YY+
21700595-G-A 19538709-G-A YY17×A+
21477809-GAAAA-G 19315923-GAAAA-G +
21464179-A-AGAAGGAAG 19302293-A-AGAAGGAAG +
21251812-CA-C 19089926-CA-C +
19293851-C-T 17181971-C-T YY+
18565278-TTTA-T 16453398-TTTA-T +
19210905-C-A 17099025-C-A Y+
19189430-C-CTTTT 17077550-C-CTTTT 35×T+
19183842-TG-T 17071962-TG-T +
18830304-TAC-T 16718424-TAC-T +
18718724-T-TATCC 16606844-T-TATCC +
18588201-G-A 16476321-G-A Z25333 YY+
18565281-A-AT 16453401-A-AT +
13259555-C-T 11103879-C-T +
13243393-G-T 11087717-G-T +
24551718-C-CGT 22405571-C-CGT P3_t2 20×GT+
22995376-G-T 20833490-G-T YY21×T+
6676646-T-C 6808605-T-C YY+
2703900-T-C 2835859-T-C YY+
18157115-C-T 16045235-C-T Y22841 Y+
7622025-T-C 7753984-T-C YY+
7622068-T-G 7754027-T-G YY+
22185899-A-C 20024013-A-C S24093 YY+
21620499-A-G 19458613-A-G YY+
7206681-A-C 7338640-A-C YY+
7361449-C-A 7493408-C-A YY17×A+
14866140-C-T 12754206-C-T YY11×GT+
14866163-A-G 12754233-A-G YY+
13367942-C-T 11212266-C-T +
13273005-G-A 11117329-G-A +
6598674-G-T 6730633-G-T +
6969012-G-GA 7100971-G-GA 10×A+
8093722-T-C 8225681-T-C YY+
5941845-T-C 6073804-T-C +
18157127-T-C 16045247-T-C Z4044 Y+
6816736-C-T 6948695-C-T YY+
28798958-TGCAG-T 26652811-TGCAG-T +
23313658-A-G 21151772-A-G S25454 YY+
22193802-C-T 20031916-C-T S3790 Y+
22125321-A-G 19963435-A-G YY+
19016939-C-T 16905059-C-T Y+
17664472-C-T 15552592-C-T CTS7787 S3794 YY+
8107520-T-C 8239479-T-C Z36912 YY+
17245186-C-T 15133306-C-T CTS7024 S3795 Y+
16766659-T-C 14654779-T-C CTS6247 YY+
16059914-C-G 13948034-C-G Y+
15150678-A-G 13038765-A-G S3798 CTS3747 Y+
14987820-C-G 12875886-C-G YY+
14151567-T-C 12030861-T-C S3800 CTS2005 YY+
8810261-G-A 8942220-G-A Y7348 YY+
13279932-A-T 11124256-A-T +
13279902-G-T 11124226-G-T +
59002387-C-CTTA 56856240-C-CTTA +
19436728-GAAAGAAAGAA-G 17324848-GAAAGAAAGAA-G +
13507416-C-A 11351740-C-A +
13323478-T-A 11167802-T-A +
17319880-GAAGAAAGAAAGA-G 15208000-GAAGAAAGAAAGA-G 16×AAGA+
22461631-G-A 20299745-G-A DYZ19 +
17663110-G-A 15551230-G-A YY+
14624249-G-GAA 12512450-T-A +
17663116-G-A 15551236-G-A YY+
23951427-N-NT 21805280-N-NT +
22240696-T-C 20078810-T-C DYZ19 +
17663118-C-A 15551238-C-A YY26×A+
13743926-G-A 11588250-G-A +
13317481-T-C 11161805-T-C +
59004463-AAAAGAAAG-A 56858316-AAAAGAAAG-A 15×AAAG+
9941538-T-G 10103929-T-G Y+
13143253-T-C 10632739-T-C +
6861230-TTTTCTTTCTTTC-T 6993189-TTTTCTTTCTTTC-T 17×TTTC+
13269449-G-A 11113773-G-A +
13570240-G-A 11414564-G-A +
13279938-T-C 11124262-T-C +
13717605-C-G 11561929-C-G +
9403521-G-GTTT 9565912-G-GTTT 21×T+
3256138-ATTT-A 3388097-ATTT-A 15×T+
58830844-A-C 56760027-T-G +
3428653-T-C 3560612-T-C +
13139011-C-G 10628497-C-G +
13545333-AAG-A 11389657-AAG-A +
28791753-C-T 26645606-C-T +
24388090-A-ATG 22241943-A-ATG +
5633469-G-T 5765428-G-T +
58836907-C-T 56753964-G-A +
58845157-C-T 56745714-G-A +
58904251-G-C 56686620-C-G +
13569904-C-T 11414228-C-T +
6580103-A-C 6712062-A-C +
13433889-T-G 11278213-T-G +
13213819-GCGGA-G 11058143-GCGGA-G +
6413802-G-A 6545761-G-A +
7223229-C-T 7355188-C-T Y+
7160076-T-C 7292035-T-C YY+
6980106-AT-A 7112065-AT-A +
6580116-T-C 6712075-T-C +
6517830-C-T 6649789-C-T +
6434962-C-T 6566921-C-T +
6069884-C-T 6201843-C-T +
7258781-G-A 7390740-G-A Y+
6007430-T-C 6139389-T-C +
6007384-T-C 6139343-T-C +
5971660-C-T 6103619-C-T +
5941749-A-T 6073708-A-T ZS49 +
5832693-C-A 5964652-C-A +
5785716-C-A 5917675-C-A +
7252603-A-C 7384562-A-C M1945 YY+
7258783-C-A 7390742-C-A Y+
5421472-A-C 5553431-A-C 4×TCCC+
9931513-CTT-C 10093904-CTT-C +
13206798-A-AAG 11051122-A-AAG +
13143393-G-C 10632879-G-C +
13143331-AT-A 10632817-AT-A +
13140304-C-G 10629790-C-G +
9955981-T-G 10118372-T-G Y+
9955964-A-C 10118355-A-C Y+
9931499-G-T 10093890-G-T Y+
7309271-AAAAG-A 7441230-AAAAG-A 5×AAAG+
9930079-C-A 10092470-C-A Y+
9429709-C-A 9592100-C-A Y+
9429693-G-A 9592084-G-A Y+
9310573-TAC-T 9472964-TAC-T +
8555575-G-GTTTTTT 8687534-G-GTTTTTT +
8296263-G-A 8428222-G-A Y17×A+
7832071-GTCTTTCTTTCTT-G 7964030-GTCTTTCTTTCTT-G 18×TCTT+
5633332-A-G 5765291-A-G +
5270693-C-T 5402652-C-T 22×T+
13746532-A-C 11590856-A-C +
3146672-A-AGT 3278631-A-AGT 21×GT+
3306217-GTA-G 3438176-GTA-G 10×TA+
3256136-CTAT-C 3388095-CTAT-C +
3253205-C-T 3385164-C-T +
3253200-G-A 3385159-G-A +
3249547-G-T 3381506-G-T +
3215068-T-A 3347027-T-A +
2903232-CTCCTTCCTTCCTTCCTTCCTTCCT-C 3035191-CTCCTTCCTTCCTTCCTTCCTTCCT-C 18×TCCT+
3844796-G-A 3976755-G-A +
2806181-A-C 2938140-A-C YY+
18872246-TTCTC-T 16760366-TTCTC-T +
13264012-A-G 11108336-A-G +
4997440-C-T 5129399-C-T +
13504519-G-A 11348843-G-A +
13272385-A-G 11116709-A-G +
3653598-T-C 3785557-T-C ZS346 +
3845140-T-TGC 3977099-T-TGC 11×G+
5270689-A-T 5402648-A-T +
4997166-C-A 5129125-C-A +
5264527-C-G 5396486-C-G +
5082304-C-T 5214263-C-T +
5081887-T-G 5213846-T-G +
5023055-A-G 5155014-A-G +
5023001-G-A 5154960-G-A +
5013450-G-T 5145409-G-T +
4894699-C-T 5026658-C-T +
3861406-C-A 3993365-C-A +
4894693-G-T 5026652-G-T +
4740627-AG-A 4872586-AG-A +
4740620-C-A 4872579-C-A +
4726459-T-C 4858418-T-C +
4583052-T-A 4715011-T-A +
4510382-A-T 4642341-A-T +
4419616-G-A 4551575-G-A +
59030171-A-AG 56884024-A-AG +

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. 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.




Big Tree Main Page