Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > Z39589 > CTS1751 > BY3923 > BY30561

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
9737442-G-A 9899833-G-A IR3_Prx A+
7508385-T-C 7640344-T-C YA*
9602753-C-A 9765144-C-A IR3_Prx A*
22232847-A-T 20070961-A-T DYZ19 A*
26272286-G-A 24126139-G-A P1_Y1 A*
28817270-G-C 26671123-G-C A*
22468748-G-A 20306862-G-A Z17112Y6237 Z17112 DYZ19 +
18181558-T-A 16069678-T-A M10947 YY9×A+
14435965-C-T 12315238-C-T BY95742 Y+
9129113-G-A 9291504-G-A BY78360 Y+
2844555-CTA-C 2976514-CTA-C +
2887256-T-A 3019215-T-A FT178638 YY+
8108147-G-A 8240106-G-A BY178231 YY+
8145338-G-T 8277297-G-T BY178238 YY+
8461072-G-A 8593031-G-A BY178301 YY+
8695063-A-G 8827022-A-G BY178371 YY+
9394888-C-A 9557279-C-A BY178474 YY+
13229214-G-A 11073538-G-A +
13706074-G-A 11550398-G-A BY211192 DYZ17 +
14237802-G-T 12117096-G-T YY+
14285532-G-A 12164826-G-A YY+
15211854-G-A 13099940-G-A BY178797 YY+
15519035-C-CT 13407155-C-CT +
16191145-C-G 14079265-C-G BY178922 YY+
16824672-G-T 14712792-G-T BY179070 YY+
16935954-A-G 14824074-A-G BY179098 YY+
17414303-C-T 15302423-C-T BY211695 YY+
17480823-GACAC-G 15368943-GACAC-G +
18566840-T-C 16454960-T-C BY179388 YY+
18703436-T-C 16591556-T-C BY179419 YY+
19008068-C-T 16896188-C-T BY179475 YY+
19333913-G-T 17222033-G-T BY179562 YY+
21267022-G-A 19105136-G-A BY179638 YY+
21590553-C-G 19428667-C-G BY179701 YY+
21818317-A-C 19656431-A-C BY179746 YY+
22121285-A-G 19959399-A-G BY179822 YY+
22272025-C-A 20110139-C-A BY215308 DYZ19 +
22465294-C-A 20303408-C-A BY221503 DYZ19 +
7508381-T-TCCTC 7640340-T-TCCTC *
22230939-C-A 20069053-C-A DYZ19 *
22279073-C-A 20117187-C-A DYZ19 *
13857510-C-T 11736804-C-T FT86667 DYZ17 **
23060232-C-A 20898346-C-A CTS11296 **
10986903-A-T **
18853401-TTTTA-T 16741521-TTTTA-T 4×TTTA**
10980754-C-A **
56836822-CCCATT-C **
10991219-C-A **
16629353-AAG-A 14517473-AAG-A **
3374008-G-T 3505967-G-T **
21476420-C-A 19314534-C-A **
19168646-C-A 17056766-C-A **
10764545-A-G **
20315656-T-TG 18153770-T-TG P5_Dst **
17346138-C-A 15234258-C-A **
13984133-C-A 11863427-C-A **
8694153-C-A 8826112-C-A **
10673918-C-T **
20473628-TGA-T 18311742-TGA-T P5_Dst **
10040062-C-A 10202453-C-A **
26089867-A-T 23943720-A-T P1_Y1 **
28513867-C-A 26367720-C-A **
13453146-T-C 11297470-T-C **
13489494-C-T 11333818-C-T **
10764529-C-G **
24885603-A-C 22739456-A-C g1 **
10934853-C-T **
13809997-C-A 11689291-C-A DYZ17 **
17876473-T-G 15764593-T-G **
19670770-G-GTA 17558890-G-GTA P5_Prx 8×TC**
23056304-C-A 20894418-C-A **
2753947-C-A 2885906-C-A **
13857514-C-A 11736808-C-A Y19160 FGC40426 DYZ17 **
7033404-ACAT-A 7165363-ACAT-A 5×CAT**
28505290-C-A 26359143-C-A **
19053296-C-A 16941416-C-A **
19135162-C-A 17023282-C-A **
19318309-C-A 17206429-C-A **
15622446-A-C 13510566-A-C **
8379318-C-A 8511277-C-A **
15766996-C-A 13655116-C-A **
13857564-T-G 11736858-T-G DYZ17 **
11035638-A-C **
11035645-A-T **
14106969-T-G 11986263-T-G **
15648763-C-A 13536883-C-A **
4213034-C-T 4344993-C-T **
11003702-C-G **
28483625-C-A 26337478-C-A **
7759288-C-A 7891247-C-A **
22520816-G-T 20358930-G-T **
8481856-C-A 8613815-C-A **
13488215-C-T 11332539-C-T **
13441613-CCACA-C 11285937-CCACA-C **
7018052-AG-T 7150011-AG-T **
7043530-C-A 7175489-C-A **
24112759-G-T 21966612-G-T FGC67066 P3_b1 **
13677727-C-A 11522051-C-A DYZ17 **
21459921-C-A 19298035-C-A **
19920222-C-A 17808342-C-A P5_Prx **
28761329-G-T 26615182-G-T **
11003760-C-A **
8290877-C-A 8422836-C-A **
23142158-C-A 20980272-C-A **
21834184-T-G 19672298-T-G **
10935607-C-A **
14462495-C-A 12341768-C-A **
22659637-C-A 20497751-C-A **
22128743-C-A 19966857-C-A **
4133335-C-A 4265294-C-A **
4444733-G-T 4576692-G-T **
8282302-C-A 8414261-C-A **
21477081-C-A 19315195-C-A **
14387735-C-A 12267031-C-A **
17246530-C-A 15134650-C-A **
6830599-C-A 6962558-C-A **
4996111-C-A 5128070-C-A **
28728362-C-A 26582215-C-A **
7167143-C-A 7299102-C-A **
19429740-C-A 17317860-C-A **
7208150-C-A 7340109-C-A **
10807242-C-T **
7081333-G-T 7213292-G-T **
16968349-C-A 14856469-C-A **
17646736-C-A 15534856-C-A **
11035628-C-G **
11003699-G-T **
15730474-C-A 13618594-C-A **
23120057-C-A 20958171-C-A **
13287376-T-G 11131700-T-G **
28560662-C-A 26414515-C-A **
15262458-CAAAAAA-C 13150542-CAAAAAA-C 30×A**
10807238-C-A **
16052137-C-A 13940257-C-A **
10807230-C-G **
21135033-C-A 18973147-C-A **
10060691-C-A 10223082-C-A **
11003746-T-C **
13489515-G-C 11333839-G-C **
6808038-C-A 6939997-C-A **
6759329-C-A 6891288-C-A **
16704441-C-T 14592561-C-T FTB7251 **
20825034-C-A 18663148-C-A P4_Gap **
7487257-C-A 7619216-C-A IR1_L **
7301595-G-A 7433554-G-A **
13453159-C-T 11297483-C-T **
6516878-C-A 6648837-C-A **
24450403-C-A 22304256-C-A **
2803619-C-A 2935578-C-A FGC50107 **
2817134-C-A 2949093-C-A **
3078477-T-C 3210436-T-C **
3158730-G-A 3290689-G-A **
3177092-C-A 3309051-C-A **
3229046-C-A 3361005-C-A **
3414009-G-T 3545968-G-T **
3628043-C-A 3760002-C-A **
4271113-TCATCTAC-T 4403072-TCATCTAC-T **
4617422-C-A 4749381-C-A **
4841514-T-A 4973473-T-A **
4936807-G-A 5068766-G-A **
5911852-G-C 6043811-G-C **
6440970-C-A 6572929-C-A **
6832044-T-A 6964003-T-A **
6967794-A-G 7099753-A-G **
7054152-A-G 7186111-A-G **
7162160-T-C 7294119-T-C **
7182230-C-A 7314189-C-A **
7200545-C-A 7332504-C-A **
7362633-C-A 7494592-C-A **
7717715-T-C 7849674-T-C **
7862103-C-A 7994062-C-A **
8067279-A-C 8199238-A-C **
8171935-A-G 8303894-A-G **
8214357-G-T 8346316-G-T **
8849872-G-T 8981831-G-T **
9013078-A-C 9175469-A-C **
9047771-T-C 9210162-T-C **
9444866-C-A 9607257-C-A **
9925124-C-A 10087515-C-A **
10035496-C-A 10197887-C-A **
10673878-C-T **
10764547-T-TCGG **
10793304-C-A **
10874135-C-A **
10935557-CAGT-C **
10935562-CAT-C **
10952949-C-A **
10956594-C-CTTTACGA **
10956596-T-TGAG **
11003730-C-CTAGAG **
11003738-C-G **
13235417-C-A 11079741-C-A **
13326216-TCG-T 11170540-TCG-T **
13453143-C-CGGGTT 11297467-C-CGGGTT **
13453208-C-T 11297532-C-T **
13455716-C-CTCTAT 11300040-C-CTCTAT **
13474371-C-A 11318695-C-A **
13484182-C-A 11328506-C-A **
13510681-C-A 11355005-C-A **
13575565-C-A 11419889-C-A **
13584622-C-A 11428946-C-A **
13599433-GAGAT-G 11443757-GAGAT-G **
13604732-CTAGAAA-C 11449056-CTAGAAA-C **
13811172-TGC-T 11690466-TGC-T DYZ17 **
13811176-ATGG-A 11690470-ATGG-A DYZ17 **
13833507-TAATTGA-T 11712801-TAATTGA-T DYZ17 **
13857453-A-T 11736747-A-T DYZ17 **
13857474-T-C 11736768-T-C DYZ17 **
13857535-GGAA-G 11736829-GGAA-G DYZ17 **
13857540-CAG-C 11736834-CAG-C DYZ17 **
13937260-A-T 11816554-A-T **
14247586-T-A 12126880-T-A **
14395233-A-G 12274529-A-G **
14530674-C-A 12418875-C-A **
14577188-C-A 12465388-C-A **
14845511-GCGT-G 12733577-GCGT-G **
14993003-A-G 12881088-A-G **
14994320-A-C 12882405-A-C **
15093585-T-G 12981673-T-G **
15657968-C-G 13546088-C-G **
15657969-A-T 13546089-A-T **
15690197-C-A 13578317-C-A **
15739944-C-A 13628064-C-A **
15761745-A-T 13649865-A-T **
15803425-A-C 13691545-A-C **
16487940-G-T 14376060-G-T **
16498073-G-T 14386193-G-T **
16552752-C-A 14440872-C-A **
16706171-G-A 14594291-G-A **
16811186-G-A 14699306-G-A **
17013129-A-C 14901249-A-C **
17104110-C-A 14992230-C-A **
17217118-AAACAT-A 15105238-AAACAT-A **
18247175-C-A 16135295-C-A **
18346571-T-C 16234691-T-C P6_Prx **
18986939-A-AATT 16875059-A-AATT **
19246825-C-T 17134945-C-T **
20084408-C-CTTTA 17972528-C-CTTTA P5_Dst **
20404371-G-T 18242485-G-T P5_Dst **
20478998-A-G 18317112-A-G P5_Dst **
20582542-AAT-A 18420656-AAT-A P5_Dst **
20582624-C-A 18420738-C-A P5_Dst **
20770440-G-T 18608554-G-T P4_Prx **
22176754-T-C 20014868-T-C **
23111696-C-T 20949810-C-T **
23272525-C-A 21110639-C-A **
23791195-T-C 21629309-T-C **
24363901-G-T 22217754-G-T **
25173900-C-A 23027753-C-A g1 **
26391560-A-G 24245413-A-G P1_Y1 **
26991376-A-T 24845229-A-T P1_r4 **
28544863-C-T 26398716-C-T **
28609474-C-A 26463327-C-A **
28624016-T-A 26477869-T-A **
28732917-G-T 26586770-G-T **
56831660-C-CCGCTCCAGTA **
56833558-C-A **
18398222-T-C 16286342-T-C A3434 P6_Gap ***
7195227-CAAAA-C,CAA 7327186-CAAAA-C,CAA 17×A***
15230842-C-CTT 13118928-C-CTT 13×T***
12786501-CT-C,CTT 16×T***
13845334-C-G 11724628-C-G FT360337 DYZ17 ***
15001609-C-A 12889694-C-A ***
15786395-C-A 13674515-C-A ***
2689375-C-A 2821334-C-A ***
5214320-G-A 5346279-G-A ***
6935247-C-A 7067206-C-A ***
7318829-C-A 7450788-C-A ***
10035444-C-A 10197835-C-A ***
10627566-C-A ***
13452923-C-G 11297247-C-G ***
14097945-ATTTT-A,ATTTTT 11977239-ATTTT-A,ATTTTT 23×T***
14509597-C-A 12397802-C-A ***
14701074-T-C 12589140-T-C ***
15619688-A-G 13507808-A-G ***
16514304-A-ATGTG 14402424-A-ATGTG 18×TG***
16602638-CT-C,CTT 14490758-CT-C,CTT 15×T***
17859511-C-A 15747631-C-A ***
21703287-C-A 19541401-C-A ***
22028909-A-G 19867023-A-G ***
23185767-C-A 21023881-C-A ***
56831283-C-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.