Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > FGC22538

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
28692596-A-G 26546449-A-G FGC66891 +
18903082-T-G 16791202-T-G YY+
15073992-C-G 12962082-C-G FGC66870 YY++
15589924-T-C 13478044-T-C FGC66871 YY++
2929364-C-T 3061323-C-T FGC58506 +
16634566-C-T 14522686-C-T FGC66873 YY++
16860340-G-A 14748460-G-A FGC66874 YY++
16951852-C-A 14839972-C-A FGC66875 YY++
17190675-T-C 15078795-T-C FGC66876 YY++
17681064-A-G 15569184-A-G FGC66877 YY++
18903073-AT-A 16791193-AT-A +
18903075-GT-G 16791195-GT-G +
18903098-T-C 16791218-T-C YY+***
27964857-G-A 25818710-G-A FGC66890 P1_Y2 **+
19009875-C-T 16897995-C-T FGC66878 YY++
19118165-T-G 17006285-T-G FGC66879 YY++
7480490-A-G 7612449-A-G FGC66858 IR1_L +
21673678-A-C 19511792-A-C FGC66881 YY++
21751355-G-C 19589469-G-C FGC66882 YY++
21863994-G-A 19702108-G-A FGC66883 YY++
21901162-C-G 19739276-C-G FGC66884 YY++
3383628-T-C 3515587-T-C FGC66851 +
4223325-T-C 4355284-T-C FGC66853 +
22461681-T-C 20299795-T-C FGC66885 DYZ19 ++
22803328-C-T 20641442-C-T FGC66849 YY++
3995472-C-T 4127431-C-T FGC66852 +
14856542-G-T 12744608-G-T FGC66869 YY++
13846010-G-C 11725304-G-C FGC66866 +*
16074920-A-G 13963040-A-G FGC66848 Y+
7664691-T-G 7796650-T-G FGC66859 YY+
8151610-C-G 8283569-C-G FGC66860 YY+
5695164-C-G 5827123-C-G FGC66855 +
23186117-G-T 21024231-G-T FGC66887 Y+
14425272-G-C 12304547-G-C FGC66868 Y+
9972420-A-G 10134811-A-G FGC66864 Y++
13996361-C-T 11875655-C-T FGC66867 Y+
24400234-C-T 22254087-C-T FGC66888 Y++
9475056-C-G 9637447-C-G FGC66863 ++
8670012-A-G 8801971-A-G FGC66862 YY++
8386584-A-T 8518543-A-T FGC66861 YY++
2844282-C-G 2976241-C-G FGC66850 YY++
6645485-G-A 6777444-G-A FGC66856 YY++
6650249-T-C 6782208-T-C FGC66857 YY++
16205844-G-T 14093964-G-T FGC66872 YY*
22511586-G-T 20349700-G-T FGC66886 DYZ19 ****
19424535-C-T 17312655-C-T FGC66880 Y*
2813153-TTGAG-T 2945112-TTGAG-T *
4744585-A-G 4876544-A-G FGC66854 *
10003309-C-A 10165700-C-A FGC66865 Y*
27527014-C-T 25380867-C-T FGC66889 P1_Y2 *
19183499-C-T 17071619-C-T **
6099384-CAAAA-C 6231343-CAAAA-C 17×A**
3634008-G-T 3765967-G-T **
17262371-C-A 15150491-C-A **
3302904-TTTTATTTA-T 3434863-TTTTATTTA-T 11×TTTA**
3867995-T-C 3999954-T-C **
59019223-C-A 56873076-C-A **
18903074-T-G 16791194-T-G **
7490199-G-T 7622158-G-T IR1_L **
22537555-A-G 20375669-A-G **
16976070-A-G 14864190-A-G **
22988753-G-A 20826867-G-A **
6953234-C-G 7085193-C-G **
16976061-A-G 14864181-A-G **
16352456-CAAAA-C 14240576-CAAAA-C 21×A**
6538270-G-A 6670229-G-A **
4841699-A-G 4973658-A-G **
4437526-C-A 4569485-C-A **
6395035-T-C 6526994-T-C **
6012695-C-A 6144654-C-A **
13519087-G-A 11363411-G-A **
21600668-A-C 19438782-A-C **
22155377-C-T 19993491-C-T ***
21322281-G-T 19160395-G-T ***
22245259-C-A 20083373-C-A DYZ19 ***
21042474-C-A 18880588-C-A ***
21435226-C-T 19273340-C-T ***
22051463-C-T 19889577-C-T ***
21435224-T-G 19273338-T-G ***
22051445-A-C 19889559-A-C ***
21910041-G-A 19748155-G-A ***
21435227-G-T 19273341-G-T ***
21910032-T-C 19748146-T-C ***
21435235-C-T 19273349-C-T ***
21658644-G-C 19496758-G-C ***
21435236-A-G 19273350-A-G ***
21910025-A-G 19748139-A-G ***
28800091-GGAATT-G 26653944-GGAATT-G ***
19787631-C-A 17675751-C-A P5_Prx ***
15803368-G-C 13691488-G-C ***
16342596-G-T 14230716-G-T ***
16241149-G-A 14129269-G-A ***
16035367-C-G 13923487-C-G ***
15897590-C-A 13785710-C-A ***
15897586-C-T 13785706-C-T ***
15893473-A-G 13781593-A-G ***
15676968-G-T 13565088-G-T FGC54289 ***
16607954-A-T 14496074-A-T ***
14740211-C-T 12628279-C-T ***
14740206-A-G 12628274-A-G ***
14740191-C-T 12628259-C-T ***
14740189-T-A 12628257-T-A ***
14740188-T-A 12628256-T-A ***
14683526-A-G 12571592-A-G ***
16498152-T-G 14386272-T-G ***
16701796-T-A 14589916-T-A ***
19487062-G-T 17375182-G-T ***
17898262-C-A 15786382-C-A ***
19187499-G-A 17075619-G-A ***
19048054-T-A 16936174-T-A ***
19007811-G-A 16895931-G-A ***
18903094-T-G 16791214-T-G ***
18847046-T-G 16735166-T-G ***
18157901-A-G 16046021-A-G ***
17731784-G-T 15619904-G-T ***
16882745-C-A 14770865-C-A ***
17277342-G-A 15165462-G-A ***
22274680-G-A 20112794-G-A DYZ19 ***
17026666-T-C 14914786-T-C ***
16998431-G-A 14886551-G-A ***
16972511-T-C 14860631-T-C ***
16897592-T-C 14785712-T-C ***
17062086-T-A 14950206-T-A ***
26422227-T-G 24276080-T-G P1_Y1 ***
22293252-C-T 20131366-C-T DYZ19 ***
13898754-GTTTTTTTTT-G 11778048-GTTTTTTTTT-G 26×T***
13142030-CCTCTC-TCACTG 10631516-CCTCTC-TCACTG ***
13194842-ATCCAC-GTCCTT 11039166-ATCCAC-GTCCTT ***
13194853-TCA-CCC 11039177-TCA-CCC ***
13194882-CTT-TTC 11039206-CTT-TTC ***
13205579-C-CAA 11049903-C-CAA 17×A***
13257268-GATATAT-G 11101592-GATATAT-G 11×AT***
13455431-TTCCA-CCCCC 11299755-TTCCA-CCCCC ***
13459141-C-CGGATG 11303465-C-CGGATG ***
13519083-TAATG-CAATA 11363407-TAATG-CAATA ***
13842702-GG-TT 11721996-GG-TT ***
13842726-TGGAG-CGGAA 11722020-TGGAG-CGGAA ***
13843994-AGAC-GGAA 11723288-AGAC-GGAA ***
14331131-CTTTTTT-C 12210425-CTTTTTT-C 25×T***
8723746-GAAA-G 8855705-GAAA-G 14×A***
22512549-GTG-CTA 20350663-GTG-CTA DYZ19 ***
58883884-A-ATTCCT 56706984-C-CAAAGG ***
58883883-C-CATTCA 56706984-C-CAATTG ***
28787294-CAG-GGA 26641147-CAG-GGA ***
28628480-ATATT-A 26482333-ATATT-A ***
14530894-ACG-A 12419095-ACG-A ***
17713850-CTTTTTTTTTTT-C 15601970-CTTTTTTTTTTT-C 23×T***
17678621-CTTTTTTTTTT-C 15566741-CTTTTTTTTTT-C 26×T***
16976073-A-AAC 14864193-A-AAC ***
16976070-ACAA-GCAAAC 14864190-ACAA-GCAAAC ***
16972480-CA-C 14860600-CA-C 8×A***
13142014-CCCAC-TCCAT 10631500-CCCAC-TCCAT ***
5571890-CTTT-C 5703849-CTTT-C 16×T***
22540538-G-A 20378652-G-A 17×TA***
25086363-G-A 22940216-G-A g1 ***
26439414-A-C 24293267-A-C P1_Y1 ***
14683516-C-T 12571582-C-T ***
25931026-C-A 23784879-C-A P1_Y1 ***
25497493-G-C 23351346-G-C P2_r2 ***
25317056-C-A 23170909-C-A P2_r1 ***
25296740-A-C 23150593-A-C P2_r1 ***
25026571-C-T 22880424-C-T g1 ***
27010810-G-T 24864663-G-T P1_r4 ***
24972368-C-T 22826221-C-T g1 ***
24220438-A-G 22074291-A-G P3_b1 ***
23838662-G-A 21676776-G-A ***
23357418-G-A 21195532-G-A ***
23137147-A-C 20975261-A-C ***
22755332-A-C 20593446-A-C ***
26645750-G-A 24499603-G-A FGC37450 P1_g2 ***
27617431-G-T 25471284-G-T P1_Y2 ***
3956691-AACAC-A 4088650-AACAC-A 12×AC***
58855247-T-C 56735624-A-G ***
14795080-CTTTTTTTTT-C 12683151-CTTTTTTTTT-C 24×T***
28496016-T-TA 26349869-T-TA 17×A***
59006501-A-G 56860354-A-G ***
58975440-G-T 56829293-G-T ***
58906894-C-G 56683977-G-C ***
58883513-C-T 56707358-G-A ***
58847575-G-T 56743296-C-A ***
27686374-G-T 25540227-G-T P1_Y2 ***
58831104-A-G 56759767-T-C ***
58827488-T-A 56763383-A-T ***
58820003-C-T 56770868-G-A ***
28800059-G-C 26653912-G-C ***
28785953-G-A 26639806-G-A ***
28183181-C-T 26037034-C-T P1_b4 ***
14683518-G-A 12571584-G-A ***
13459659-C-G 11303983-C-G ***
14683515-T-C 12571581-T-C ***
13194869-C-T 11039193-C-T ***
25150397-C-A 23004250-C-A g1 ***
25807002-G-A 23660855-G-A P1_b3 ***
28794770-G-T 26648623-G-T ***
22490685-G-T 20328799-G-T DYZ19 ***
18395723-T-TTATA 16283843-T-TTATA P6_Gap 27×TA***
13466264-C-G 11310588-C-G ***
13468095-GTA-TTG 11312419-GTA-TTG ***
15557122-ATAATAT-A 13445242-ATAATAT-A ***
22051508-G-A 19889622-G-A ***
22051459-T-C 19889573-T-C ***
22051464-C-T 19889578-C-T ***
22051465-A-G 19889579-A-G ***
22051478-G-A 19889592-G-A ***
22051479-A-C 19889593-A-C ***
7015324-C-CT 7147283-C-CT 23×T***
25108041-G-A 22961894-G-A g1 ***
22512551-G-A 20350665-G-A DYZ19 ***
4498257-C-T 4630216-C-T ***
4236102-A-T 4368061-A-T ***
4236090-C-A 4368049-C-A ***
3787308-T-C 3919267-T-C ***
3150848-C-A 3282807-C-A ***
2915786-C-G 3047745-C-G ***
13843989-G-A 11723283-G-A ***
58979420-TTCC-CTCT 56833273-TTCC-CTCT ***
14341954-C-T 12221249-C-T Y15064 Z35945 ***
28800117-G-C 26653970-G-C ***
28800100-T-G 26653953-T-G ***
13141212-C-T 10630698-C-T ***
58979456-GCC-TCT 56833309-GCC-TCT ***
28800071-G-A 26653924-G-A ***
25113656-T-C 22967509-T-C g1 ***
25064315-C-T 22918168-C-T g1 ***
4498286-A-G 4630245-A-G ***
58985061-T-C 56838914-T-C ***
25100628-G-GT 22954481-G-GT g1 9×T***
3522968-TAAAAAA-T 3654927-TAAAAAA-T 24×A***
22251401-A-G 20089515-A-G DYZ19 ***
22312062-G-C 20150176-G-C DYZ19 ***
13453231-T-A 11297555-T-A ***
13453845-T-C 11298169-T-C A11605 ***
13711500-A-C 11555824-A-C ***
13842736-T-C 11722030-T-C ***
14123572-G-A 12002866-G-A Z26053 F14421 ***
58883861-C-CCCATT 56706984-C-CAATGG 5×CCATT***
19187501-C-T 17075621-C-T ***
9241230-T-C 9403621-T-C ***
24895661-GA-G 22749514-GA-G g1 10×A***
24388082-A-ATC 22241935-A-ATC ***
58856299-C-A 56734572-G-T ***
25007913-G-T 22861766-G-T g1 ***
22312063-G-T 20150177-G-T DYZ19 ***
24998749-T-C 22852602-T-C g1 ***
24913470-C-T 22767323-C-T g1 ***
24837106-C-T 22690959-C-T P3_b2 ***
24249157-A-C 22103010-A-C P3_b1 ***
22312073-C-T 20150187-C-T DYZ19 ***
22288784-T-C 20126898-T-C DYZ19 ***
22277791-T-C 20115905-T-C A17946 DYZ19 ***
22275939-A-T 20114053-A-T DYZ19 ***
22258301-T-C 20096415-T-C DYZ19 ***
19575240-T-C 17463360-T-C P5_Prx ***
16122417-A-T 14010537-A-T P8_Prx ***
14243719-TTGTG-T 12123013-TTGTG-T 15×TG***
4498285-C-A 4630244-C-A ***
4498288-C-G 4630247-C-G ***
14683513-T-A 12571579-T-A ***
13842703-G-T 11721997-G-T ***
13379227-A-C 11223551-A-C ***
13389798-C-A 11234122-C-A ***
13423830-C-A 11268154-C-A ***
13424188-C-T 11268512-C-T ***
13431338-T-A 11275662-T-A ***
13450109-C-A 11294433-C-A ***
13455406-T-C 11299730-T-C ***
13455424-C-A 11299748-C-A ***
20084475-C-T 17972595-C-T P5_Dst ***
13460939-G-T 11305263-G-T ***
13489060-G-T 11333384-G-T ***
13489071-G-A 11333395-G-A ***
13656358-G-A 11500682-G-A ***
13835294-G-C 11714588-G-C ***
13842726-T-C 11722020-T-C ***
13142035-C-G 10631521-C-G ***
14530854-A-C 12419055-A-C ***
14683510-C-T 12571576-C-T ***
14683509-T-C 12571575-T-C ***
14683497-G-A 12571563-G-A ***
14683494-C-T 12571560-C-T ***
14683478-T-C 12571544-T-C ***
14631771-G-T 12519840-G-T ***
14473454-G-T 12352723-G-T ***
13842737-G-T 11722031-G-T ***
13878461-G-T 11757755-G-T ***
13868200-G-T 11747494-G-T ***
13868199-T-C 11747493-T-C ***
13868198-A-C 11747492-A-C ***
13842743-G-A 11722037-G-A ***
13842741-T-A 11722035-T-A ***
13354495-A-G 11198819-A-G ***
13142030-C-T 10631516-C-T ***
4550598-C-A 4682557-C-A ***
6309848-C-T 6441807-C-T IR3_Dst ***
7076752-A-G 7208711-A-G ***
6691238-T-G 6823197-T-G ***
6607134-G-A 6739093-G-A ***
6384768-T-C 6516727-T-C ***
6384758-G-T 6516717-G-T ***
6384756-C-T 6516715-C-T ***
6113763-T-C 6245722-T-C ***
7098666-A-C 7230625-A-C ***
5990689-C-A 6122648-C-A ***
5825592-A-G 5957551-A-G ***
5236069-T-C 5368028-T-C ***
4751684-C-G 4883643-C-G ***
4686467-G-A 4818426-G-A ***
4653578-C-T 4785537-C-T ***
7098665-G-A 7230624-G-A ***
7098668-C-T 7230627-C-T ***
10092623-C-G 10255014-C-G ***
7360409-G-A 7492368-G-A ***
10044260-G-T 10206651-G-T ***
9801532-C-T 9963923-C-T ***
9528820-C-T 9691211-C-T ***
9493035-T-A 9655426-T-A ***
9471731-T-G 9634122-T-G ***
9342738-A-G 9505129-A-G ***
7345300-T-C 7477259-T-C ***
7098672-C-T 7230631-C-T ***
7345297-A-G 7477256-A-G ***
7345294-G-T 7477253-G-T ***
7345290-G-A 7477249-G-A ***
7309641-A-C 7441600-A-C ***
7098679-A-T 7230638-A-T ***
7098676-G-C 7230635-G-C ***

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.

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