Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > FGC5494 > FGC5561 > FGC19329 > FGC19319

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
7785880-A-C 7917839-A-C FGC19333 YY++
7815479-G-T 7947438-G-T FGC19334 YY++
8845674-T-C 8977633-T-C FGC19338 YY++
13684327-T-A 11528651-T-A BY48785 +**
13684328-A-C 11528652-A-C BY45723 +**
16564109-C-T 14452229-C-T FGC19347 YY++
17982608-GATA-G 15870728-GATA-G +*
21864467-T-C 19702581-T-C FGC19357 YY++
23069454-G-A 20907568-G-A M3846 YY++
2665405-T-A 2797364-T-A FGC19319FGC19319 YY+
3597703-G-A 3729662-G-A FGC19320 +
3973346-C-A 4105305-C-A FGC19323 +
4048880-C-T 4180839-C-T FGC19324 +
4633454-T-C 4765413-T-C FGC19325 +
4745943-T-C 4877902-T-C FGC19326 +
5543292-G-T 5675251-G-T FGC19327 +
6925626-T-C 7057585-T-C FGC19330 YY+
7127407-G-C 7259366-G-C FGC19319FGC19331 YY+
7254938-G-A 7386897-G-A FGC19332 Y+
13548820-T-C 11393144-T-C FGC19341 +
15770696-C-A 13658816-C-A FGC19345 YY+
17683213-G-A 15571333-G-A FGC19351 Y+
17850025-G-A 15738145-G-A FGC19353 YY+
19081224-G-A 16969344-G-A FGC19355 YY+
23103087-G-T 20941201-G-T FGC19360 Y+
28578158-C-T 26432011-C-T FGC19363 +
28709762-T-C 26563615-T-C FGC19364 +
14489855-C-A 12369124-C-A CTS2796 YY*
3619084-A-G 3751043-A-G FGC19321 *
3881489-C-T 4013448-C-T FGC19322 *
5828807-A-G 5960766-A-G FGC19328 *
22341153-T-A 20179267-T-A DYZ19 **
20569614-C-CAAAAAAA 18407728-C-CAAAAAAA P5_Dst 33×A**
23315961-C-A 21154075-C-A **
20582532-A-AAAT 18420646-A-AAAT P5_Dst 12×AAT**
18994824-GGGAA-G 16882944-GGGAA-G 6×GGAA*****
22311315-C-T 20149429-C-T DYZ19 **
25201042-G-T 23054895-G-T g1 **
2940686-G-C 3072645-G-C FT340877 **
5096104-T-G 5228063-T-G FT341767 **
13129227-C-T 10618713-C-T **
18780233-T-A 16668353-T-A FT45261 **
18780234-C-T 16668354-C-T FT45262 **
22236571-T-A 20074685-T-A DYZ19 **
22258242-C-T 20096356-C-T DYZ19 **
3374847-C-CAAAAAAA 3506806-C-CAAAAAAA 23×A**
16052579-GATAAATAA-G 13940699-GATAAATAA-G 8×ATAA**
18804474-A-AAGAG 16692594-A-AAGAG 26×AG**
19510264-C-CTTT 17398384-C-CTTT 27×T**
13478482-G-T 11322806-G-T ***
25709386-G-GTTTT 23563239-G-GTTTT P1_b3 31×T***
22293077-T-G 20131191-T-G DYZ19 ***
22344868-T-C 20182982-T-C DYZ19 ***
22268353-T-C 20106467-T-C DYZ19 ***
22234913-C-G 20073027-C-G DYZ19 ***
22268350-A-T 20106464-A-T DYZ19 ***
22342822-T-G 20180936-T-G DYZ19 ***
22504768-G-T 20342882-G-T DYZ19 ***
58831551-T-C 56759320-A-G ***
58861589-G-T 56729282-C-A ***
13268618-GT-AC 11112942-GT-AC ***
13469931-TGAC-CGCA 11314255-TGAC-CGCA ***
21824255-C-CAAAAA 19662369-C-CAAAAA 30×A***
22268350-ATCT-TTCC 20106464-ATCT-TTCC DYZ19 ***
22268371-GC-G 20106485-GC-G DYZ19 ***
22496169-TTTTG-CTTAC 20334283-TTTTG-CTTAC DYZ19 ***
22421969-G-T 20260083-G-T DYZ19 ***
13487105-G-C 11331429-G-C ***
19646223-A-T 17534343-A-T P5_Prx ***
19646228-G-C 17534348-G-C P5_Prx ***
22252888-C-T 20091002-C-T DYZ19 ***
22337292-C-G 20175406-C-G DYZ19 ***
22481779-A-T 20319893-A-T DYZ19 ***
27499513-T-A 25353366-T-A P1_Y2 ***
58826723-T-A 56764148-A-T ***
58867471-G-A 56723400-C-T ***
13489635-ACCA-CCCT 11333959-ACCA-CCCT ***
22480992-GTCTTC-TTCTGT 20319106-GTCTTC-TTCTGT DYZ19 ***
58991215-T-C 56845068-T-C S3139 ***
22430155-T-C 20268269-T-C DYZ19 ***
20025431-T-C 17913551-T-C P5_Prx ***
13110082-G-A 10599568-G-A ***
14491315-A-C ***
14491316-G-A ***
14491318-G-C ***
22421857-G-T 20259971-G-T DYZ19 ***
22481801-G-C 20319915-G-C DYZ19 ***
58877045-G-C 56713826-C-G ***
58877047-A-T 56713824-T-A ***
13203958-C-A 11048282-C-A ***
13721616-C-A 11565940-C-A 4×ATGGA***
13721624-G-T 11565948-G-T ***
13721630-G-A 11565954-G-A ***
22488436-T-A 20326550-T-A DYZ19 ***
22501967-G-T 20340081-G-T DYZ19 ***
58910311-G-T 56680560-C-A ***
22281896-TC-GT 20120010-TC-GT DYZ19 ***
13467498-T-TC 11311822-T-TC ***
22266206-C-G 20104320-C-G DYZ19 ***
22357694-C-A 20195808-C-A DYZ19 ***
22495980-G-T 20334094-G-T DYZ19 ***
58844918-A-T 56745953-T-A ***
58909130-T-C 56681741-A-G ***
13467493-GT-G 11311817-GT-G ***
19735972-T-C 17624092-T-C P5_Prx ***
22306375-A-G 20144489-A-G DYZ19 ***
23199656-C-G 21037770-C-G ***
24348659-G-C 22202512-G-C P3_t1 ***
26113823-T-TA 23967676-T-TA P1_Y1 ***
22419676-N-T 20257790-N-T DYZ19 ***
22289674-C-A 20127788-C-A DYZ19 ***
22502074-G-A 20340188-G-A DYZ19 ***
58840380-G-C 56750491-C-G ***
58844939-A-T 56745932-T-A ***
58844940-G-C 56745931-C-G ***
58908532-A-T 56682339-T-A ***
13488510-AG-CA 11332834-AG-CA ***
22332925-A-C 20171039-A-C DYZ19 ***
2860458-G-GTTTTT 2992417-G-GTTTTT 18×T***
13110116-C-A 10599602-C-A ***
58882623-C-T 56708248-G-A ***
58910244-T-A 56680627-A-T ***
22252653-TTGGC-CTGGG 20090767-TTGGC-CTGGG DYZ19 ***
22234400-T-G 20072514-T-G DYZ19 ***
22293088-T-G 20131202-T-G DYZ19 ***
22332548-A-T 20170662-A-T DYZ19 ***
22234424-CTCT-GTCA 20072538-CTCT-GTCA DYZ19 ***
22268178-T-G 20106292-T-G DYZ19 ***
22268172-G-T 20106286-G-T DYZ19 ***
22337305-G-T 20175419-G-T DYZ19 ***
58845140-T-G 56745731-A-C ***
58890647-C-A 56700224-G-T ***
22337261-TCTT-ACTA 20175375-TCTT-ACTA DYZ19 ***
17474945-C-T 15363065-C-T 15×T***
18271891-C-A 16160011-C-A P6_Prx ***
22365859-G-T 20203973-G-T DYZ19 ***
22365860-C-A 20203974-C-A DYZ19 ***
22420477-G-A 20258591-G-A DYZ19 ***
13728174-CGG-TGA 11572498-CGG-TGA ***
22421471-G-T 20259585-G-T DYZ19 ***
22252887-C-T 20091001-C-T DYZ19 ***
58913232-TGATG-GAATT 56677635-CATCA-AATTC ***
22273629-C-G 20111743-C-G DYZ19 ***
13110115-T-A 10599601-T-A ***
13110088-C-G 10599574-C-G ***
13616457-G-T 11460781-G-T ***
6162285-C-T 6294244-C-T IR3_Dst ***
22342796-A-T 20180910-A-T DYZ19 ***
22342808-A-C 20180922-A-C DYZ19 ***
2903298-C-T 3035257-C-T ***
4150894-T-G 4282853-T-G ***
6133856-C-G 6265815-C-G ***
6162299-A-C 6294258-A-C IR3_Dst ***
6358141-C-T 6490100-C-T ***
9032382-G-C 9194773-G-C ***
9536340-C-A 9698731-C-A IR3_Prx ***
9720740-A-G 9883131-A-G IR3_Prx ***
9720743-C-G 9883134-C-G IR3_Prx ***
9720752-T-A 9883143-T-A IR3_Prx ***
9720801-T-A 9883192-T-A IR3_Prx ***
13109955-A-C 10599441-A-C ***
13109969-C-T 10599455-C-T ***
13110043-G-C 10599529-G-C ***
13110089-A-G 10599575-A-G ***
13110127-T-A 10599613-T-A ***
13110570-C-A 10600056-C-A ***
13110584-C-A 10600070-C-A ***
13253924-T-C 11098248-T-C ***
13332909-G-A 11177233-G-A ***
13464190-T-G 11308514-T-G ***
13470298-T-C 11314622-T-C Y61515BY85834 ***
13479734-G-A 11324058-G-A ***
13479781-T-C 11324105-T-C ***
13479794-T-G 11324118-T-G ***
13479802-G-C 11324126-G-C ***
13479802-G-A 11324126-G-A ***
13487115-A-C 11331439-A-C ***
13697720-C-A 11542044-C-A ***
13710303-T-A 11554627-T-A ***
13710347-G-T 11554671-G-T ***
16138803-G-A 14026923-G-A P8_Dst ***
16138811-T-A 14026931-T-A P8_Dst ***
18333573-G-T 16221693-G-T P6_Prx ***
18438178-A-G 16326298-A-G P6_Dst ***
18450112-C-T 16338232-C-T P6_Dst ***
18483886-C-T 16372006-C-T P6_Dst ***
19512530-T-A 17400650-T-A ***
19646199-T-C 17534319-T-C P5_Prx ***
19763210-A-C 17651330-A-C P5_Prx ***
19936314-A-T 17824434-A-T P5_Prx ***
19936315-A-T 17824435-A-T P5_Prx ***
19939023-C-T 17827143-C-T P5_Prx ***
19939036-C-A 17827156-C-A P5_Prx ***
20118040-C-T 18006160-C-T P5_Dst ***
20118103-A-T 18006223-A-T P5_Dst ***
20246019-G-A 18084133-G-A P5_Dst ***
20326219-A-G 18164333-A-G P5_Dst ***
20338825-T-A 18176939-T-A P5_Dst ***
20338826-C-A 18176940-C-A P5_Dst ***
20452727-A-T 18290841-A-T P5_Dst ***
20452779-G-C 18290893-G-C P5_Dst ***
22234917-G-A 20073031-G-A DYZ19 ***
22234964-C-T 20073078-C-T DYZ19 ***
22236797-C-G 20074911-C-G DYZ19 ***
22236803-C-A 20074917-C-A DYZ19 ***
22252892-G-T 20091006-G-T DYZ19 ***
22252894-T-G 20091008-T-G DYZ19 ***
22257309-G-C 20095423-G-C DYZ19 ***
22273644-C-G 20111758-C-G DYZ19 ***
22273708-C-T 20111822-C-T DYZ19 ***
22292646-T-C 20130760-T-C DYZ19 ***
22293093-G-A 20131207-G-A DYZ19 ***
22309418-T-C 20147532-T-C DYZ19 ***
22328421-T-G 20166535-T-G DYZ19 ***
22329991-T-G 20168105-T-G DYZ19 ***
22335749-G-T 20173863-G-T DYZ19 ***
22336046-A-T 20174160-A-T DYZ19 ***
22337385-T-A 20175499-T-A DYZ19 ***
22337415-C-A 20175529-C-A DYZ19 ***
22337416-C-G 20175530-C-G DYZ19 ***
22337438-C-T 20175552-C-T DYZ19 ***
22342626-A-G 20180740-A-G DYZ19 ***
22342731-G-T 20180845-G-T DYZ19 ***
22342754-T-G 20180868-T-G DYZ19 ***
22344447-T-C 20182561-T-C DYZ19 ***
22365130-A-T 20203244-A-T DYZ19 ***
22365221-G-A 20203335-G-A DYZ19 ***
22365576-G-A 20203690-G-A DYZ19 ***
22366637-G-T 20204751-G-T DYZ19 ***
22420643-G-T 20258757-G-T DYZ19 ***
22420655-T-G 20258769-T-G DYZ19 ***
22420672-G-C 20258786-G-C DYZ19 ***
22420691-G-C 20258805-G-C DYZ19 ***
22420710-G-C 20258824-G-C DYZ19 ***
22420942-C-T 20259056-C-T DYZ19 ***
22421675-A-T 20259789-A-T DYZ19 ***
22456919-C-A 20295033-C-A DYZ19 ***
22456963-A-G 20295077-A-G DYZ19 ***
22457115-C-G 20295229-C-G DYZ19 ***
22457124-C-T 20295238-C-T DYZ19 ***
22480658-A-G 20318772-A-G DYZ19 ***
22480659-T-C 20318773-T-C DYZ19 ***
22481930-G-T 20320044-G-T DYZ19 ***
22488419-G-A 20326533-G-A DYZ19 ***
25200789-G-A 23054642-G-A g1 ***
25289852-C-A 23143705-C-A P2_r1 ***
25430633-G-A 23284486-G-A P2_r2 ***
25805091-C-A 23658944-C-A P1_b3 16×A***
25854790-T-G 23708643-T-G P1_Y1 ***
25854896-A-C 23708749-A-C P1_Y1 ***
25854912-C-A 23708765-C-A P1_Y1 ***
25854917-A-T 23708770-A-T P1_Y1 ***
25854921-C-A 23708774-C-A P1_Y1 ***
25876953-A-G 23730806-A-G P1_Y1 ***
25876995-G-A 23730848-G-A P1_Y1 ***
25876998-T-A 23730851-T-A P1_Y1 ***
25946360-T-A 23800213-T-A P1_Y1 ***
25946363-G-A 23800216-G-A P1_Y1 ***
25946396-C-A 23800249-C-A P1_Y1 ***
25946401-T-A 23800254-T-A P1_Y1 ***
26247791-G-T 24101644-G-T P1_Y1 ***
26318315-C-T 24172168-C-T P1_Y1 ***
26345344-G-A 24199197-G-A P1_Y1 ***
26345378-C-A 24199231-C-A P1_Y1 ***
26379404-A-G 24233257-A-G P1_Y1 ***
27305889-C-T 25159742-C-T P1_g3 ***
27305895-T-A 25159748-T-A P1_g3 ***
27305898-A-T 25159751-A-T P1_g3 ***
27327894-A-T 25181747-A-T P1_g3 ***
28103733-C-T 25957586-C-T P1_Y2 ***
28103736-G-T 25957589-G-T P1_Y2 ***
28103740-A-T 25957593-A-T P1_Y2 ***
28103742-C-T 25957595-C-T P1_Y2 ***
28103768-C-T 25957621-C-T P1_Y2 ***
58820181-T-C 56770690-A-G ***
58820192-T-G 56770679-A-C ***
58820205-A-T 56770666-T-A ***
58823199-G-A 56767672-C-T ***
58823471-C-T 56767400-G-A ***
58823532-A-T 56767339-T-A ***
58826861-A-T 56764010-T-A ***
58835838-A-G 56755033-T-C ***
58843750-A-C 56747121-T-G ***
58844912-A-T 56745959-T-A ***
58845683-C-T 56745188-G-A ***
58846168-C-T 56744703-G-A ***
58847906-T-A 56742965-A-T ***
58847928-T-C 56742943-A-G ***
58848010-G-A 56742861-C-T ***
58848304-G-A 56742567-C-T ***
58854222-C-G 56736649-G-C ***
58854392-C-G 56736479-G-C ***
58854782-C-T 56736089-G-A ***
58857766-C-T 56733105-G-A ***
58857772-C-G 56733099-G-C ***
58857777-A-C 56733094-T-G ***
58857789-C-T 56733082-G-A ***
58859250-G-T 56731621-C-A ***
58863232-T-A 56727639-A-T ***
58865807-C-T 56725064-G-A ***
58867425-C-T 56723446-G-A ***
58869052-G-C 56721819-C-G ***
58877015-G-C 56713856-C-G ***
58877017-C-T 56713854-G-A ***
58880709-C-G 56710162-G-C ***
58880717-G-T 56710154-C-A ***
58890013-T-G 56700858-A-C ***
58890635-A-C 56700236-T-G ***
58890650-C-T 56700221-G-A ***
58894609-C-G 56696262-G-C ***
58908541-T-A 56682330-A-T ***
58909129-A-G 56681742-T-C ***
58909151-A-G 56681720-T-C ***
58909280-G-C 56681591-C-G ***
58913269-A-G 56677602-T-C ***
13203843-ACC-GTG 11048167-ACC-GTG ***
17047682-GC-G 14935802-GC-G ***
58823339-TC-T 56767528-TG-T ***
13474008-CGTA-GGTT 11318332-CGTA-GGTT ***
3550569-C-AA 3682528-C-AA ***
13684327-TA-AC 11528651-TA-AC ***
8660569-G-AA 8792528-G-AA ***
2888870-C-CAAAAAAAA 3020829-C-CAAAAAAAA 32×A***
5235405-C-CTTTTT 5367364-C-CTTTTT 31×T***
5778393-TGA-T 5910352-TGA-T ***
8575956-A-ATTTT 8707915-A-ATTTT 28×T***
13140110-CAATCCATTAA-C 10629596-CAATCCATTAA-C ***
13445373-AAA-G 11289697-AAA-G ***
13453308-CCTTTCCATTG-C 11297632-CCTTTCCATTG-C ***
13465631-AGC-TGA 11309955-AGC-TGA ***
13470727-CGGA-TGGG 11315051-CGGA-TGGG ***
13487111-C-GCCT 11331435-C-GCCT ***
13962042-C-CTTTTT 11841336-C-CTTTTT 28×T***
18565061-C-CAAAA 16453181-C-CAAAA 27×A***
18780233-TC-AT 16668353-TC-AT ***
20252796-C-CAAAA 18090910-C-CAAAA P5_Dst 24×A***
20333835-C-CCGCAAAAAAAA 18171949-C-CCGCAAAAAAAA P5_Dst 24×A***
21853677-C-CAAAAAAA 19691791-C-CAAAAAAA 43×A***
22234462-GTA-ACT 20072576-GTA-ACT DYZ19 ***
22234486-AAAGTC-GAAATG 20072600-AAAGTC-GAAATG DYZ19 ***
22268151-ATGG-GTGA 20106265-ATGG-GTGA DYZ19 ***
22365618-GC-TG 20203732-GC-TG DYZ19 ***
22420627-CAGA-TAGG 20258741-CAGA-TAGG DYZ19 ***
22421683-TCC-AAG 20259797-TCC-AAG DYZ19 ***
23041233-G-AA 20879347-G-AA ***
23084704-G-GTTTTTTT 20922818-G-GTTTTTTT 19×T***
24686428-C-CTTTTT 22540281-C-CTTTTT P3_b2 23×T***
26508369-GA-G 24362222-GA-G P1_Y1 ***
58831552-CATTC-GATGA 56759315-GAATG-TCATC ***
58870564-T-TG 56720306-T-TC ***
58877042-CTCGAA-TTCCAT 56713824-TTCGAG-ATGGAA ***
59007959-C-CAAAAAAAAA 56861812-C-CAAAAAAAAA 26×A***

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.