Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z2552 > YP4295 > A6458 > A6457 > BY3232

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
222095
8546458-G-A 8678417-G-A Z13357 YY+
19273263-C-A 17161383-C-A Y55642 YY+
2888532-C-G 3020491-C-G Y44975 YY+
6653638-C-T 6785597-C-T Y45158 YY+
7270806-T-A 7402765-T-A Y45850 YY+
7826640-A-C 7958599-A-C Y46469 YY+
8426880-A-T 8558839-A-T Y47282 YY+
8471430-G-C 8603389-G-C FGC23992 YY+
9852914-A-AAAGGAAGGAAGGAAGG 10015305-A-AAAGGAAGGAAGGAAGG 17×AAGG+
9870440-G-A 10032831-G-A Y48580 YY+
9876460-C-A 10038851-C-A Y48598 YY+
13135652-C-G 10625138-C-G Y48658 +
13861362-A-G 11740656-A-G Y48766 +
14722261-A-G 12610329-A-G Y49814 YY+
14990040-C-G 12878125-C-G Y50143 YY+
16196692-A-G 14084812-A-G Y51503 YY+
16227643-C-A 14115763-C-A Y51537 YY+
16413050-T-TTG 14301170-T-TTG +
16455673-G-A 14343793-G-A Y51884 YY+
17411205-A-G 15299325-A-G Y53233 YY+
17615869-A-G 15503989-A-G Y53496 YY+
17909624-G-T 15797744-G-T Y53909 YY+
18109184-C-A 15997304-C-A Y54253 YY+
18206088-G-T 16094208-G-T Y54402 YY+
18708280-T-C 16596400-T-C Y54791 YY+
18856841-TTTTG-T 16744961-TTTTG-T 5×TTTG+
18888005-T-C 16776125-T-C Y55013 YY+
19057846-C-T 16945966-C-T Y55290 YY+
19226713-C-T 17114833-C-T Y55560 YY+
19549960-T-C 17438080-T-C Y56061 YY+
19549962-T-TAC 17438082-T-TAC +
21256376-A-C 19094490-A-C Y56410 YY+
21711357-T-C 19549471-T-C Y57110 YY+
22560447-G-T 20398561-G-T Y57945 YY+
13856627-T-G 11735921-T-G **
13856628-A-G 11735922-A-G **
13858135-A-C 11737429-A-C **
13858155-T-G 11737449-T-G **
13858144-C-T 11737438-C-T **
13859334-C-G 11738628-C-G **
27902197-C-CT 25756050-C-CT P1_Y2 34×T**
13620825-G-A 11465149-G-A PF4903 **
17244458-T-A 15132578-T-A **
21139776-TA-T 18977890-TA-T 9×A**
22420524-A-T 20258638-A-T DYZ19 **
13813392-C-G 11692686-C-G ***
13818160-T-A,C 11697454-T-A,C ***
13662094-G-A 11506418-G-A ***
13454838-A-T 11299162-A-T ***
13142018-C-T 10631504-C-T ***
13662088-T-A 11506412-T-A ***
13809608-T-C 11688902-T-C ***
13824952-A-T 11704246-A-T ***
13856642-A-G 11735936-A-G ***
22271855-T-G 20109969-T-G FT454368 DYZ19 ***
28785684-ATTTAT-A,G 26639537-ATTTAT-A,G ***
58908804-T-C 56682067-A-G ***
58908945-T-C 56681926-A-G ***
13139296-A-G 10628782-A-G ***
13865704-A-G 11744998-A-G ***
13857970-C-T 11737264-C-T ***
9966417-G-T 10128808-G-T ***
13455854-CATTCCACTGGGTTTG-C 11300178-CATTCCACTGGGTTTG-C ***
13458551-G-C 11302875-G-C ***
13653021-C-T 11497345-C-T BY54268 ***
13824967-T-A 11704261-T-A ***
13866080-A-G 11745374-A-G ***
13818051-T-A 11697345-T-A ***
13818096-A-T 11697390-A-T ***
13452683-T-C 11297007-T-C ***
13818660-C-A 11697954-C-A ***
13835244-C-G 11714538-C-G ***
13854431-C-T 11733725-C-T ***
13854408-G-A 11733702-G-A FT83510 ***
10020983-A-C 10183374-A-C ***
13809644-G-T 11688938-G-T ***
28784727-G-C 26638580-G-C ***
28801719-A-G 26655572-A-G ***
9320580-C-A 9482971-C-A ***
13682043-G-A 11526367-G-A ***
13802806-T-C 11682100-T-C ***
13802836-T-A 11682130-T-A BY48805 ***
13802837-G-T 11682131-G-T BY90020 ***
13804442-G-T 11683736-G-T ***
13838735-T-G 11718029-T-G ***
13865605-T-G 11744899-T-G ***
13824886-A-G 11704180-A-G ***
13459211-CAACTG-C 11303535-CAACTG-C ***
13846223-A-C 11725517-A-C ***
13853016-A-T 11732310-A-T ***
13857380-A-G 11736674-A-G ***
13701158-A-G 11545482-A-G ***
13802975-A-G 11682269-A-G ***
13809627-T-A 11688921-T-A ***
13677729-T-G 11522053-T-G ***
13702818-C-A 11547142-C-A ***
13702819-G-A 11547143-G-A ***
13865715-C-G 11745009-C-G ***
58972475-G-C 56826328-G-C ***
13141230-T-C 10630716-T-C ***
13447736-T-A 11292060-T-A ***
13447753-C-A 11292077-C-A ***
58978901-C-T 56832754-C-T ***
9980919-A-G 10143310-A-G ***
13142013-C-T 10631499-C-T ***
13454192-C-T 11298516-C-T ***
13855130-T-C 11734424-T-C ***
13855135-T-A 11734429-T-A ***
13856643-A-G 11735937-A-G ***
13803101-T-G 11682395-T-G ***
13137439-C-T 10626925-C-T ***
13137444-C-T 10626930-C-T ***
13452773-C-T 11297097-C-T ***
13674737-A-G 11519061-A-G ***
13855471-T-G 11734765-T-G BY33739 ***
13857387-A-C 11736681-A-C ***
13867731-T-G 11747025-T-G ***
13809601-A-T 11688895-A-T ***
13857595-C-G 11736889-C-G ***
24844563-T-C 22698416-T-C IR1_R ***
13680859-T-C 11525183-T-C ***
13811026-A-G 11690320-A-G ***
58855282-C-T 56735589-G-A ***
13805039-A-T 11684333-A-T ***
13824917-T-C 11704211-T-C ***
13853646-C-T 11732940-C-T ***
13857378-C-A 11736672-C-A ***
13857383-A-C 11736677-A-C ***
13653047-C-G 11497371-C-G ***
13702822-T-G 11547146-T-G ***
13809643-G-A 11688937-G-A ***
13818018-G-A 11697312-G-A FT365250 ***
14612234-G-T 12500440-G-T ***
9981025-A-C 10143416-A-C ***
9981026-C-G 10143417-C-G ***
13801478-G-A 11680772-G-A ***
13801509-G-C 11680803-G-C ***
13801518-A-T 11680812-A-T ***
13839929-T-C 11719223-T-C ***
13839930-G-A 11719224-G-A ***
13853626-T-C 11732920-T-C ***
13866294-G-C 11745588-G-C ***
18008675-TG-T,TT 15896795-TG-T,TT P7_Dst ***
27375800-AT-A 25229653-AT-A P1_g3 19×T***
28103949-CT-C 25957802-CT-C P1_Y2 22×T***
28802842-T-C 26656695-T-C ***
58975536-G-C,T 56829389-G-C,T ***
13735029-CT-AC,C 11579353-CT-AC,C ***
58975527-C-G 56829380-C-G ***
13658690-G-T 11503014-G-T ***
13661952-A-G 11506276-A-G ***
13799180-A-G 11678474-A-G ***
13799184-T-A 11678478-T-A ***
13843373-A-T 11722667-A-T ***
13843374-G-A 11722668-G-A ***
13857853-A-T 11737147-A-T ***
13862039-T-A 11741333-T-A ***
13867741-G-A 11747035-G-A BY91694 ***
25465346-A-AT 23319199-A-AT P2_r2 15×T***
13802024-T-G 11681318-T-G ***
13802025-T-G 11681319-T-G ***
13815050-G-A 11694344-G-A ***
13824935-A-C 11704229-A-C ***
13848137-A-T 11727431-A-T ***
13848139-C-G 11727433-C-G ***
13855127-G-A 11734421-G-A ***
13867746-G-A 11747040-G-A ***
13828566-A-T 11707860-A-T ***
13841298-T-A 11720592-T-A ***
13862169-C-A 11741463-C-A ***
13862040-G-C 11741334-G-C ***
13804293-A-G 11683587-A-G F11051 ***
13804296-T-G 11683590-T-G ***
13804297-T-A 11683591-T-A ***
13828505-C-T 11707799-C-T ***
13828506-C-G 11707800-C-G ***
13828509-G-A 11707803-G-A ***
13479365-GATTTAC-G 11323689-GATTTAC-G ***
10013265-A-T 10175656-A-T ***
13865964-G-C 11745258-G-C ***
13866280-G-A 11745574-G-A ***
13845626-G-A 11724920-G-A ***
13680756-G-C 11525080-G-C ***
13680734-C-T 11525058-C-T ***
9980932-A-C 10143323-A-C ***
9980958-G-T 10143349-G-T ***
13813412-C-G 11692706-C-G ***
13866279-G-C 11745573-G-C ***
13865745-G-A 11745039-G-A ***
58980969-T-C 56834822-T-C ***
13802872-G-C 11682166-G-C ***
13866939-G-C 11746233-G-C ***
8218119-C-T 8350078-C-T ***
8218131-C-T 8350090-C-T ***
13662097-A-T 11506421-A-T ***
13856608-G-A 11735902-G-A ***
13867910-T-A 11747204-T-A ***
28786671-G-GTGGAATGGAA 26640524-G-GTGGAATGGAA 5×TGGAA***
13839181-A-G 11718475-A-G ***
13857994-TGAAATCAAATGGAAC-T,TTGACTCGAAAGGACT 11737288-TGAAATCAAATGGAAC-T,TTGACTCGAAAGGACT ***
13459467-T-A 11303791-T-A ***
13851550-TGGAAG-T 11730844-TGGAAG-T ***
22249807-A-T 20087921-A-T DYZ19 ***
13445360-GACAAAAAA-G,GACA 11289684-GACAAAAAA-G,GACA ***
13865713-T-A 11745007-T-A ***
13865447-A-C 11744741-A-C ***
13455121-T-A,TTTCCA 11299445-T-A,TTTCCA 8×TTCCA***
16150095-CT-C 14038215-CT-C P8_Dst 22×T***
13818163-G-A 11697457-G-A ***
22459653-G-C 20297767-G-C BY31423 DYZ19 ***
13858642-G-T 11737936-G-T ***
13711106-A-C 11555430-A-C ***
7289752-A-AAG 7421711-A-AAG 10×AG***
8218120-CTTCT-C,T 8350079-CTTCT-C,T 15×TTCT***
8218130-T-G 8350089-T-G ***
8218135-C-T 8350094-C-T ***
8218137-T-G 8350096-T-G ***
9980986-G-A 10143377-G-A ***
9981056-T-G 10143447-T-G ***
9981064-C-T 10143455-C-T ***
10006145-T-G 10168536-T-G ***
13674723-G-A 11519047-G-A ***
13680832-A-T 11525156-A-T ***
13682033-C-CAGTGGACTCA 11526357-C-CAGTGGACTCA ***
13682035-G-A 11526359-G-A 4×TGGAA***
13802023-T-A 11681317-T-A ***
13802883-G-GAATGC 11682177-G-GAATGC ***
13812840-TGCAAC-T 11692134-TGCAAC-T ***
13813986-C-G 11693280-C-G ***
13815022-G-A 11694316-G-A ***
13821306-A-G 11700600-A-G ***
13828186-A-G 11707480-A-G ***
13832596-TGGACC-T 11711890-TGGACC-T ***
13832602-T-G 11711896-T-G ***
13839936-G-A 11719230-G-A ***
13839959-T-G 11719253-T-G ***
13839991-G-A 11719285-G-A ***
13842595-A-G 11721889-A-G ***
13847153-G-T 11726447-G-T ***
13848128-C-T 11727422-C-T ***
13848129-A-G 11727423-A-G ***
13850656-A-G 11729950-A-G ***
13853702-C-T 11732996-C-T ***
13856622-G-A 11735916-G-A ***
13857368-A-C 11736662-A-C ***
13857580-G-A 11736874-G-A BY91531 ***
13862026-A-G 11741320-A-G ***
13862036-C-T 11741330-C-T ***
13862162-G-GTTGGAGTAGAATGGAATGGA 11741456-G-GTTGGAGTAGAATGGAATGGA ***
13865894-C-G,T 11745188-C-G,T ***
13867747-G-T 11747041-G-T ***
15558448-A-AGATAGAT 13446568-A-AGATAGAT ***
18325701-ATTT-A 16213821-ATTT-A P6_Prx 27×T***
19549950-AGTAGTT-A 17438070-AGTAGTT-A ***
19633672-C-T 17521792-C-T P5_Prx ***
19948181-C-CCTTTCTTT,CCTTTCTTTCTTT 17836301-C-CCTTTCTTT,CCTTTCTTTCTTT P5_Prx 21×CTTT***
20046777-A-T 17934897-A-T P5_Prx ***
20642654-T-G 18480768-T-G P4_Prx ***
22232873-T-A 20070987-T-A DYZ19 ***
22267113-T-C 20105227-T-C DYZ19 ***
22270383-T-A 20108497-T-A BY30630 DYZ19 ***
22280329-G-A 20118443-G-A DYZ19 ***
22304234-A-T 20142348-A-T DYZ19 ***
22422422-G-C 20260536-G-C DYZ19 ***
23311269-T-C 21149383-T-C ***
24210638-G-C 22064491-G-C P3_b1 ***
24744465-A-T 22598318-A-T P3_b2 ***
24956158-T-C 22810011-T-C g1 ***
24970454-A-G 22824307-A-G g1 ***
25065291-T-C 22919144-T-C g1 ***
25146301-G-A 23000154-G-A g1 ***
25812157-T-C 23666010-T-C P1_b3 ***
28076480-T-C 25930333-T-C P1_Y2 ***
28076583-G-C 25930436-G-C P1_Y2 ***
28076587-CA-C 25930440-CA-C P1_Y2 ***
58975531-C-A 56829384-C-A ***
58975542-C-G 56829395-C-G ***
58976214-CCACTG-C 56830067-CCACTG-C ***
13674700-ATGGACTCGAGTGGAAAAAAG-A 11519024-ATGGACTCGAGTGGAAAAAAG-A ***
28076484-CT-C 25930337-CT-C P1_Y2 ***
58976242-G-C,T 56830095-G-C,T ***
13856303-A-AAATGGAATGGAATGGAATGGAATGGAATGG,G 11735597-A-AAATGGAATGGAATGGAATGGAATGGAATGG,G 15×AATGG***
13476410-C-A,G 11320734-C-A,G ***
13821177-A-AGGAATGGAATGGAATGGAAT,T 11700471-A-AGGAATGGAATGGAATGGAAT,T 10×GGAAT***

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.