Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z2552 > L617 > FGC14951 > BY31995 > BY61065

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
497000
22483130-G-T 20321244-G-T DYZ19 A+
19683934-G-C 17572054-G-C BY28325 P5_Prx A*
7716918-T-G 7848877-T-G BY181170 YY+
7878140-CA-C 8010099-CA-C +
13195176-C-T 11039500-C-T BY209876 +
14583897-G-C 12472097-G-C BY181515 YY+
19069074-A-C 16957194-A-C BY181969 YY+
19279604-AT-A 17167724-AT-A +
20142745-A-C 18030865-A-C BY182412 P5_Dst +
22233844-G-A 20071958-G-A DYZ19 *
22237761-C-T 20075875-C-T DYZ19 *
58858855-A-C 56732016-T-G **
9769080-G-T 9931471-G-T FGC5629FGC5629 **
25200987-GAAGAAAGAAAGAAAGA-G 23054840-GAAGAAAGAAAGAAAGA-G g1 14×AAGA**
13710347-G-T 11554671-G-T **
22341098-T-G 20179212-T-G DYZ19 **
15815264-G-A 13703384-G-A **
22235181-C-T 20073295-C-T DYZ19 **
4960394-C-A 5092353-C-A **
14526995-C-A 12415196-C-A **
22341105-C-G 20179219-C-G DYZ19 **
22341106-A-T 20179220-A-T DYZ19 **
5708410-C-A 5840369-C-A **
10767693-T-C **
13710343-G-T 11554667-G-T **
10971108-T-C **
13717503-T-A 11561827-T-A **
10767679-T-A **
21885921-C-A 19724035-C-A **
16874817-C-A 14762937-C-A **
18087002-C-A 15975122-C-A **
10958782-A-C **
10971090-C-CTTTCA **
10971120-C-T **
19052408-C-A 16940528-C-A **
21464575-G-T 19302689-G-T **
18434873-GAA-G 16322993-GAA-G P6_Dst **
11034854-C-T **
10846795-G-T **
17993897-C-A 15882017-C-A P7_Prx **
10956433-CCAATG-C **
10978918-C-A **
15735407-C-A 13623527-C-A **
10682502-C-CATTTCA **
10682506-C-CATTGCATTG **
13710338-G-T 11554662-G-T **
13952732-C-A 11832026-C-A **
15815285-C-A 13703405-C-A **
15815292-C-G 13703412-C-G Y41188 **
17499070-C-A 15387190-C-A **
28633207-A-G 26487060-A-G **
10986174-C-A **
9925305-C-A 10087696-C-A **
21922101-AAAG-A 19760215-AAAG-A **
22189234-CAAAAAA-C 20027348-CAAAAAA-C 17×A**
13937040-C-A 11816334-C-A **
21220260-G-TT 19058374-G-TT **
15442283-C-A 13330403-C-A **
13996092-C-A 11875386-C-A **
10989817-A-ACTC **
10989819-A-AGT **
13898740-G-T 11778034-G-T FGC42237 **
4388469-CAAA-C 4520428-CAAA-C 14×A**
15815254-G-A 13703374-G-A **
10885144-C-A **
10767643-C-A **
7362658-C-A 7494617-C-A **
10924360-T-A **
17716853-C-A 15604973-C-A **
4585436-C-A 4717395-C-A **
10658295-C-A **
10995873-C-CCATAA **
10995853-T-A **
10995807-T-C **
10746718-T-C **
6029106-C-A 6161065-C-A **
3127616-C-A 3259575-C-A **
10887951-C-G **
6784594-C-A 6916553-C-A **
13712613-G-A 11556937-G-A **
13961386-C-A 11840680-C-A **
22089987-C-A 19928101-C-A **
9832626-C-T 9995017-C-T **
11029336-C-T **
9962271-C-A 10124662-C-A **
11001528-T-G **
6930543-C-A 7062502-C-A **
10682581-C-T **
21201835-C-A 19039949-C-A **
20770483-CT-C 18608597-CT-C P4_Prx **
10989146-C-A **
6787133-T-C 6919092-T-C **
22429817-G-A 20267931-G-A BY217974 DYZ19 **
10992832-C-A **
3688501-C-A 3820460-C-A **
56846233-G-T **
10791018-C-CTATTG **
56846937-G-T **
10924415-T-A **
19304181-C-A 17192301-C-A **
11644063-G-T **
9939984-C-A 10102375-C-A **
26366411-T-G 24220264-T-G P1_Y1 **
15815268-C-T 13703388-C-T **
4533694-C-A 4665653-C-A **
10748061-C-G **
18873845-C-A 16761965-C-A **
6755990-C-A 6887949-C-A **
17562008-G-GTT 15450128-G-GTT **
6426915-C-A 6558874-C-A **
10772437-A-C **
10747993-T-A **
3821664-C-A 3953623-C-A **
21518306-C-A 19356420-C-A **
11643909-G-T **
11029353-T-G **
6228257-C-CTGCTT 6360216-C-CTGCTT IR3_Dst **
10880359-C-A **
13487740-C-CCT 11332064-C-CCT **
17481300-C-A 15369420-C-A **
13697140-C-G 11541464-C-G **
7864234-C-A 7996193-C-A **
10682589-T-G **
21353330-C-A 19191444-C-A **
5200072-C-T 5332031-C-T **
20946311-A-AC 18784425-A-AC P4_Dst **
10658276-C-A **
10995878-C-A **
5904691-C-A 6036650-C-A **
6298482-A-C 6430441-A-C IR3_Dst **
3732548-C-A 3864507-C-A **
10772441-C-A **
13453268-C-G 11297592-C-G **
2693412-G-A 2825371-G-A **
2790541-C-A 2922500-C-A **
3174672-G-T 3306631-G-T **
3272753-C-A 3404712-C-A **
3381347-G-A 3513306-G-A **
4261930-T-G 4393889-T-G **
4898367-G-T 5030326-G-T **
5125577-C-A 5257536-C-A **
5159181-C-A 5291140-C-A **
5200081-T-C 5332040-T-C **
5239144-A-C 5371103-A-C **
5309518-G-T 5441477-G-T **
5612156-G-T 5744115-G-T **
5750458-G-T 5882417-G-T **
6124559-A-G 6256518-A-G **
6298490-A-T 6430449-A-T IR3_Dst 10×AC**
6298492-C-CAT 6430451-C-CAT IR3_Dst **
6298496-C-CAT 6430455-C-CAT IR3_Dst **
6355823-G-T 6487782-G-T **
6593614-T-C 6725573-T-C **
6699018-CTA-C 6830977-CTA-C **
7196312-A-C 7328271-A-C **
7201479-A-C 7333438-A-C **
7343526-T-C 7475485-T-C **
7414218-C-T 7546177-C-T **
7970450-C-A 8102409-C-A **
9492132-G-A 9654523-G-A **
9564510-T-TGG 9726901-T-TGG IR3_Prx **
9769078-C-A 9931469-C-A **
10024367-CTCTCTCTTTCTGTCTGTT-C 10186758-CTCTCTCTTTCTGTCTGTT-C **
10065283-C-A 10227674-C-A **
10653902-C-A **
10656849-A-G **
10656860-C-A **
10656887-CCACTT-C **
10668933-A-C **
10746685-C-A **
10746695-T-C **
10748016-C-G **
10748033-T-TTCGAATTCAA **
10748067-A-G **
10767652-A-G **
10767681-C-T **
10767703-T-A **
10772432-A-G **
10772484-T-C **
10805742-C-A **
10856163-T-G **
10872284-T-C **
10872320-C-A **
10874268-C-A **
10956443-C-A **
10956529-C-T **
10964585-T-C **
10964608-A-T **
10964614-T-C **
10964631-ACTCTC-A **
10977579-C-A **
10978842-C-A **
10981671-C-A **
10981708-C-A **
10987538-C-T **
10995828-C-CCAATG **
10995893-C-A **
11002158-G-T **
11003707-C-G **
11014686-T-G **
11016495-G-T **
11029348-T-G **
11037126-T-G **
13295076-C-A 11139400-C-A **
13310850-G-A 11155174-G-A **
13488123-G-A 11332447-G-A **
13488152-G-C 11332476-G-C **
11644188-G-T **
11657450-A-G **
11668361-G-A **
13847055-G-A 11726349-G-A **
13885512-C-A 11764806-C-A **
13993626-G-A 11872920-G-A **
14195109-G-A 12074403-G-A **
14490375-C-A 12369644-C-A **
14668979-G-C 12557045-G-C **
14715537-T-C 12603604-T-C **
15215513-T-G 13103599-T-G **
15698945-G-T 13587065-G-T **
15815265-A-G 13703385-A-G **
15815273-C-T 13703393-C-T **
15815288-A-C 13703408-A-C **
15931461-G-A 13819581-G-A **
16118602-G-GTT 14006722-G-GTT P8_Prx **
16323891-C-A 14212011-C-A **
16968427-T-C 14856547-T-C **
17092679-T-C 14980799-T-C **
17367774-C-A 15255894-C-A **
17379524-C-A 15267644-C-A **
17478881-C-T 15367001-C-T **
17540364-C-T 15428484-C-T **
17869642-C-A 15757762-C-A **
18008645-C-A 15896765-C-A P7_Dst 30×T**
18490364-C-A 16378484-C-A P6_Dst **
18627903-CT-C 16516023-CT-C **
18930176-G-T 16818296-G-T **
19041276-A-G 16929396-A-G **
19072833-C-A 16960953-C-A **
19429540-C-T 17317660-C-T **
19528727-C-T 17416847-C-T **
19763366-A-AC 17651486-A-AC P5_Prx **
19937297-C-G 17825417-C-G P5_Prx **
20231598-G-T 18069712-G-T P5_Dst **
20574777-G-A 18412891-G-A P5_Dst **
20774940-A-C 18613054-A-C P4_Prx **
21069921-T-C 18908035-T-C **
21118569-A-C 18956683-A-C **
21283381-T-G 19121495-T-G **
21438041-A-C 19276155-A-C **
21438053-A-C 19276167-A-C **
21464277-T-C 19302391-T-C **
21984111-A-T 19822225-A-T **
21984113-C-T 19822227-C-T **
22010243-A-ACC 19848357-A-ACC **
22287094-G-T 20125208-G-T DYZ19 **
22340068-A-C 20178182-A-C DYZ19 **
22916779-A-C 20754893-A-C **
22916788-G-A 20754902-G-A **
22916798-A-T 20754912-A-T **
22916799-C-T 20754913-C-T **
24607776-A-C 22461629-A-C P3_t2 **
25157450-C-T 23011303-C-T g1 **
25201140-A-T 23054993-A-T g1 **
27039103-G-T 24892956-G-T P1_r4 **
27847752-A-C 25701605-A-C P1_Y2 **
27859450-AAG-A 25713303-AAG-A P1_Y2 **
27864493-C-A 25718346-C-A P1_Y2 **
27967392-T-A 25821245-T-A P1_Y2 **
28610256-T-G 26464109-T-G **
28648566-C-A 26502419-C-A **
28784600-A-T 26638453-A-T **
56732004-G-A **
56742765-T-C **
56833240-C-G **
56848351-G-T **
56877940-G-T **
3992049-C-A 4124008-C-A ***
18567572-C-A 16455692-C-A ***
21200894-CAA-C,CAAA 19039008-CAA-C,CAAA 14×A***
56833273-T-A ***
10790993-T-A ***
16506042-C-A 14394162-C-A ***
9371410-C-A 9533801-C-A ***
56834326-TCCATTTCATTCCACC-T ***
2803948-G-A 2935907-G-A ***
2818093-C-T 2950052-C-T ***
9868814-A-AAT,ATCTTAAT 10031205-A-AAT,ATCTTAAT ***
10012609-G-A 10175000-G-A ***
10020817-C-A 10183208-C-A ***
13805003-A-G 11684297-A-G ***
13983546-AGAAGGAAG-A,AGAAG 11862840-AGAAGGAAG-A,AGAAG 11×GAAG***
14831720-GTTTTT-G 12719787-GTTTTT-G 17×T***
17246706-C-A 15134826-C-A ***
19059747-CTTTTTT-C,CTTTTT 16947867-CTTTTTT-C,CTTTTT 25×T***
19461348-C-A 17349468-C-A ***
21614833-C-A 19452947-C-A FTA46769 ***
22020516-C-A 19858630-C-A ***
22077474-C-A 19915588-C-A ***
22188682-AACACACAC-A,AACACAC 20026796-AACACACAC-A,AACACAC 23×AC***

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.