Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z193 > Z40483 > BY42688 > Y12178

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
5206777-G-A 5338736-G-A A+
20856248-G-T 18694362-G-T P4_Dst A+
21021212-T-TC 18859326-T-TC P4_Dst A+
18359850-T-C 16247970-T-C P6_Prx ***A*
19698959-G-C 17587079-G-C P5_Prx ***A*
20054253-T-C 17942373-T-C P5_Prx ***A*
20770560-C-A 18608674-C-A P4_Prx ***A*
20787924-C-A 18626038-C-A P4_Prx ***A*
22232561-A-T 20070675-A-T DYZ19 ***A*
22265939-A-G 20104053-A-G DYZ19 ***A*
25974546-G-T 23828399-G-T P1_Y1 ***A*
25992415-G-A 23846268-G-A P1_Y1 ***A*
6258586-C-T 6390545-C-T IR3_Dst A*
6307308-A-C 6439267-A-C IR3_Dst A*
18311813-C-T 16199933-C-T P6_Prx A*
18497290-G-A 16385410-G-A P6_Dst A*
19661501-A-G 17549621-A-G P5_Prx A*
20075485-A-G 17963605-A-G P5_Dst A*
56836802-T-G A*
6847490-G-A 6979449-G-A Z41348 YY++
3374150-C-T 3506109-C-T BY57585 **+
7317482-G-C 7449441-G-C BY64528 YY++
7356415-T-C 7488374-T-C BY64740 YY++
8047619-G-T 8179578-G-T BY69594 YY++
8779660-A-G 8911619-A-G BY75840 YY++
8805350-C-T 8937309-C-T BY76036 YY++
14003863-C-T 11883157-C-T BY47133 YY++
14574231-A-T 12462431-A-T BY96539 Y**+
15191680-C-CT 13079766-C-CT 9×T+*
15791747-C-T 13679867-C-T BY104163 YY++
15791800-G-T 13679920-G-T BY104164 YY++
16198799-G-A 14086919-G-A BY105943 YY++
16219229-A-C 14107349-A-C BY106051 YY++
16446252-CA-C 14334372-CA-C ++
16871728-C-CT 14759848-C-CT 8×T++
17063967-C-T 14952087-C-T BY112093 YY++
18836326-A-C 16724446-A-C FT181541 YY++
19218504-G-A 17106624-G-A BY127351 YY++
19235133-A-G 17123253-A-G BY127542 YY++
20614078-C-T 18452192-C-T BY212233 P4_Prx ++
21103088-C-T 18941202-C-T BY130436 YY++
21288604-C-T 19126718-C-T BY131699 YY++
21288605-C-T 19126719-C-T BY131700 YY++
21657765-A-AC 19495879-A-AC ++
22035854-G-A 19873968-G-A BY137235 YY++
22288122-C-A 20126236-C-A FT455032 DYZ19 ***+
22441068-C-T 20279182-C-T BY52591 DYZ19 ++
22628862-T-C 20466976-T-C BY139627 Y++
23330759-G-A 21168873-G-A BY144639 YY++
23386981-A-G 21225095-A-G BY144974 YY++
23873130-G-A 21711244-G-A BY55524 Y++
23993157-T-C 21847010-T-C BY149121 ++
25088370-C-T 22942223-C-T g1 +
13966625-C-T 11845919-C-T FT83560 Y+
13228148-C-A 11072472-C-A FT441370 +
4137775-A-G 4269734-A-G FT16122 +
3011045-T-C 3143004-T-C FT82384 +
3336950-T-G 3468909-T-G FT82466 +
3777808-G-A 3909767-G-A FT82611 +
4093132-A-G 4225091-A-G FT82708 +
4103819-C-T 4235778-C-T FT82713 +
4255952-C-A 4387911-C-A FT82760 +
5849553-C-T 5981512-C-T FT83193 +
9958010-C-T 10120401-C-T FT91409 Y+
10042673-A-T 10205064-A-T FT87500 +
15232673-A-G 13120759-A-G FT83687 Y+
16889705-G-A 14777825-G-A FT83816 YY+
17589052-T-C 15477172-T-C FT83865 YY+
18183620-T-C 16071740-T-C FT83906 Y+
18867068-G-A 16755188-G-A FT83940 YY+
22172675-G-C 20010789-G-C FT84077 Y+
27916368-A-T 25770221-A-T P1_Y2 +
28474585-A-G 26328438-A-G FT84179 +
18323-C-T +
28812890-A-T 26666743-A-T ****
5827333-C-T 5959292-C-T *
13329212-T-A 11173536-T-A **
13194802-G-T 11039126-G-T **
14555305-C-T 12443506-C-T FGC7861 Z467 **
59031959-T-A 56885812-T-A **
22436706-G-T 20274820-G-T BY218200 DYZ19 *****
5703680-C-T 5835639-C-T **
9950999-A-C 10113390-A-C **
22468157-G-T 20306271-G-T DYZ19 **
22732676-G-T 20570790-G-T **
19412618-AAAAT-A 17300738-AAAAT-A 8×AAAT**
13469354-A-G 11313678-A-G **
13469304-G-A 11313628-G-A **
13469355-A-G 11313679-A-G **
3490468-T-TA 3622427-T-TA **
4336840-T-C 4468799-T-C **
5963979-G-A 6095938-G-A **
7101437-C-T 7233396-C-T **
8057242-T-A 8189201-T-A **
9629450-G-A 9791841-G-A IR3_Prx **
9924396-C-T 10086787-C-T **
9997767-G-T 10160158-G-T **
13473191-G-A 11317515-G-A **
13589017-A-T 11433341-A-T **
14766734-G-C 12654803-G-C **
16022603-G-A 13910723-G-A **
16395603-C-T 14283723-C-T **
16625598-T-C 14513718-T-C **
17991668-G-T 15879788-G-T P7_Prx **
18275105-A-G 16163225-A-G P6_Prx **
19063251-A-G 16951371-A-G FT140056 **
24023649-C-CAT 21877502-C-CAT **
26477905-A-G 24331758-A-G P1_Y1 **
28101349-TG-T 25955202-TG-T P1_Y2 **
28803959-G-T 26657812-G-T **
13815413-A-G 11694707-A-G ***
24600442-C-CTCTTTCTT 22454295-C-CTCTTTCTT P3_t2 18×TCTT***
13455365-T-A 11299689-T-A ***
13647990-T-G 11492314-T-G ***
13801233-G-C 11680527-G-C ***
13454040-G-C 11298364-G-C ***
13652075-A-G 11496399-A-G ***
13833425-T-A 11712719-T-A FTB1978 ***
28789226-A-G 26643079-A-G BY151340 ***
7453565-C-T 7585524-C-T IR1_L ***
13488064-C-T 11332388-C-T ***
28789205-A-T 26643058-A-T ***
13813091-T-C 11692385-T-C Z17432 ***
13452432-G-C 11296756-G-C ***
13850495-C-G 11729789-C-G FGC58341 ***
13680843-A-G 11525167-A-G ***
13195097-T-C 11039421-T-C ***
13815426-T-C 11694720-T-C ***
13805412-G-A 11684706-G-A ***
13805425-T-A 11684719-T-A BY90084 ***
13805426-G-T 11684720-G-T ***
13830317-G-A 11709611-G-A ***
22269590-C-G 20107704-C-G DYZ19 ***
27232111-T-C,TTTTCTTTCTTTC 25085964-T-C,TTTTCTTTCTTTC P1_g3 18×TTTC***
13865488-C-T 11744782-C-T BY47126 ***
58981298-T-C 56835151-T-C ***
13457306-T-C 11301630-T-C ***
13452776-A-C 11297100-A-C ***
13805376-G-T 11684670-G-T ***
16547894-C-CA 14436014-C-CA 11×A***
13478505-T-A,C 11322829-T-A,C ***
13823274-A-G 11702568-A-G ***
13138024-C-T 10627510-C-T ***
13138093-C-T 10627579-C-T ***
13647977-A-T 11492301-A-T ***
13447049-G-A 11291373-G-A ***
5471884-G-A 5603843-G-A ***
13842542-A-G 11721836-A-G ***
13465278-G-A 11309602-G-A ***
5471894-GAA-G 5603853-GAA-G ***
13140124-C-A 10629610-C-A ***
18639018-A-C 16527138-A-C 26×GT***
13859962-A-G 11739256-A-G ***
13647985-G-T 11492309-G-T ***
13320815-AG-A 11165139-AG-A ***
19979864-CTTT-C 17867984-CTTT-C P5_Prx 28×T***
25461470-A-T 23315323-A-T P2_r2 ***
25931592-GAAGA-AAAGA,G 23785445-GAAGA-AAAGA,G P1_Y1 14×AAGA***
22293411-TC-T,TG 20131525-TC-T,TG DYZ19 ***
13680826-G-C 11525150-G-C ***
13830330-C-G 11709624-C-G ***
5471851-A-G 5603810-A-G ***
9173501-T-A 9335892-T-A ***
13142025-C-T 10631511-C-T ***
13457683-TTCCAA-T,TTCCAT 11302007-TTCCAA-T,TTCCAT ***
13676250-ATGTAC-A 11520574-ATGTAC-A ***
13809836-AT-A 11689130-AT-A ***
13809838-G-A 11689132-G-A ***
13813076-G-T 11692370-G-T ***
13815104-T-A 11694398-T-A ***
13853046-C-A,T 11732340-C-A,T ***
14440628-A-G 12319901-A-G BY95785 ***
20622955-A-AG 18461069-A-AG P4_Prx ******
22224316-C-A 20062430-C-A DYZ19 ***
22241951-G-A 20080065-G-A DYZ19 ***
22300471-T-C 20138585-T-C DYZ19 ******
22348216-A-G 20186330-A-G DYZ19 ***
22439637-C-T 20277751-C-T DYZ19 ***
22456124-C-T 20294238-C-T DYZ19 ***
24079824-A-G 21933677-A-G P3_b1 ***
28789197-A-G 26643050-A-G ***
22723386-CAAAA-C 20561500-CAAAA-C 17×A***
23304548-C-A 21142662-C-A ***
13808748-T-TCTTCC 11688042-T-TCTTCC ***
21155235-G-A 18993349-G-A ***
5986669-T-G 6118628-T-G ***
17191308-T-C 15079428-T-C ***
18465408-A-AT,ATT 16353528-A-AT,ATT P6_Dst 15×T***
56857060-TAAAA-T,TAA 13×A***
3037717-G-C 3169676-G-C ***
3633955-C-A 3765914-C-A ***
4123389-G-T 4255348-G-T ***
4123455-C-G 4255414-C-G ***
5534993-AT-A 5666952-AT-A ***
8276162-C-A 8408121-C-A ***
10002474-A-G 10164865-A-G ***
13588126-G-T 11432450-G-T ***
13950947-CTT-C,CTTTT 11830241-CTT-C,CTTTT 23×T***
14178750-C-T 12058044-C-T ***
12374493-C-G ***
17187566-CAA-C,CA 15075686-CAA-C,CA 28×A***
17191309-G-A 15079429-G-A ***
17191311-A-G 15079431-A-G ***
17455285-T-C 15343405-T-C ***
17484740-A-G 15372860-A-G ***
18138619-TA-T 16026739-TA-T ***
19206794-A-G 17094914-A-G ***
21511576-A-G 19349690-A-G ***
21580368-C-T 19418482-C-T ***
22622571-G-A 20460685-G-A ***
28618434-TA-T 26472287-TA-T ***
56877703-A-G ***

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.