Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z193 > Z192 > BY10448 > PF6652

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
194748
BigY2
194748
Manual
Edits
20695728-C-T 18533842-C-T P4_Prx ***A*
22313784-C-A 20151898-C-A DYZ19 ***A*
13450827-A-T 11295151-A-T A*
28817175-G-T 26671028-G-T A*
28817176-G-T 26671029-G-T A*
6797061-T-C 6929020-T-C BY45143 YY++
6906911-G-T 7038870-G-T BY45144 YY++
7567470-A-C 7699429-A-C BY45145 YY++
7673203-G-C 7805162-G-C BY66734 YY++
7683151-G-A 7815110-G-A ZS8958 YY++
7689723-C-T 7821682-C-T BY45146 YY++
8704102-G-A 8836061-G-A BY75309 YY++
14378273-G-T 12257569-G-T BY45147 YY++
14842989-C-T 12731055-C-T BY45148 YY++
15900496-C-G 13788616-C-G BY104797 YY++
15925051-G-A 13813171-G-A BY104920 YY++
16634541-T-C 14522661-T-C BY45149 YY++
17058197-T-A 14946317-T-A BY45150 YY++
17136859-A-C 15024979-A-C BY112573 YY++
17441227-T-C 15329347-T-C BY45151 YY++
17594604-C-T 15482724-C-T BY115997 YY++
17984708-G-A 15872828-G-A BY45152 Y++
18038149-G-C 15926269-G-C BY45153 YY++
18074051-G-A 15962171-G-A BY45154 YY++
19040591-C-T 16928711-C-T BY45155 YY++
19449612-A-T 17337732-A-T BY45156 YY++
20807383-C-G 18645497-C-G BY45157 P4_Gap ++
20815349-A-C 18653463-A-C BY45158 P4_Gap **+
21160784-T-C 18998898-T-C BY45159 YY++
21414176-G-C 19252290-G-C BY45160 YY++
21606680-G-A 19444794-G-A BY45161 YY++
21985271-G-A 19823385-G-A BY45162 YY++
22356640-T-C 20194754-T-C BY217649 DYZ19 **+
22423666-G-T 20261780-G-T DYZ19 +
22467580-T-C 20305694-T-C BY45163 DYZ19 ++
22470838-G-C 20308952-G-C BY45164 DYZ19 ++
22487639-G-T 20325753-G-T BY225011 FGC64790 DYZ19 ++
22579444-G-T 20417558-G-T BY139243 YY++
22961600-T-C 20799714-T-C S24932 YY++
23068557-A-G 20906671-A-G BY45165 YY++
23964005-A-G 21817858-A-G BY45166 Y++
28794991-C-T 26648844-C-T FT461980 **+
8226367-CA-C 8358326-CA-C ++
22277254-T-C 20115368-T-C DYZ19 ****
22281027-G-A 20119141-G-A DYZ19 ****
22317520-C-A 20155634-C-A DYZ19 ****
14242365-C-CATATG 12121659-C-CATATG 10×ATATG****
9654413-G-A 9816804-G-A BY209362 IR3_Prx **
9654417-A-G 9816808-A-G IR3_Prx **
13489557-T-A 11333881-T-A **
23321854-T-G 21159968-T-G M4934 **
59017434-C-T 56871287-C-T **
22425828-T-A 20263942-T-A DYZ19 *****
22438888-G-A 20277002-G-A FT456314 DYZ19 *****
22438898-G-A 20277012-G-A DYZ19 *****
22438899-T-C 20277013-T-C BY24457 DYZ19 *****
22438907-C-A 20277021-C-A DYZ19 *****
27029314-T-G 24883167-T-G P1_r4 **
27270187-G-T 25124040-G-T P1_g3 **
4928833-G-A 5060792-G-A **
27971686-T-A 25825539-T-A P1_Y2 **
13488585-C-A 11332909-C-A **
7312632-A-G 7444591-A-G **
4889301-C-A 5021260-C-A **
15430713-C-A 13318833-C-A **
16516444-C-A 14404564-C-A **
15922522-G-T 13810642-G-T **
23311248-CT-C 21149362-CT-C **
18950653-C-A 16838773-C-A **
14564038-T-C 12452238-T-C **
5888145-C-A 6020104-C-A **
56838101-G-T **
7414256-C-G 7546215-C-G **
15403574-C-A 13291694-C-A **
56829260-A-C **
56828884-C-CGTTCAAATCT **
7104997-C-A 7236956-C-A **
14589835-C-A 12478035-C-A **
13936454-C-A 11815748-C-A **
13478244-C-T 11322568-C-T **
21211740-C-A 19049854-C-A **
11017723-C-A **
21042164-C-A 18880278-C-A **
6929402-C-A 7061361-C-A **
14510027-C-A 12398232-C-A **
7309203-C-A 7441162-C-A **
16881510-C-A 14769630-C-A **
56837481-G-T **
7019099-C-A 7151058-C-A **
21042067-C-T 18880181-C-T FT87190 **
10767893-A-C **
7197570-A-ATT 7329529-A-ATT 19×T**
14232799-C-A 12112093-C-A **
5872056-A-C 6004015-A-C **
17362675-C-A 15250795-C-A **
16046884-A-AT 13935004-A-AT 9×T**
16211122-C-A 14099242-C-A **
18547018-C-A 16435138-C-A **
13485203-C-A 11329527-C-A **
15440020-T-A 13328140-T-A **
22124010-C-A 19962124-C-A **
14274099-C-A 12153393-C-A **
6983647-A-C 7115606-A-C **
3854106-C-A 3986065-C-A **
8723671-C-A 8855630-C-A **
4930584-C-A 5062543-C-A **
7640774-C-A 7772733-C-A **
14845539-C-A 12733605-C-A **
10892589-A-C **
24673068-G-T 22526921-G-T P3_b2 **
4757270-C-A 4889229-C-A **
21614694-C-A 19452808-C-A **
21584206-G-T 19422320-G-T **
19874216-T-TA 17762336-T-TA P5_Prx **
14076170-T-C 11955464-T-C **
24405878-C-A 22259731-C-A **
22730405-C-A 20568519-C-A **
14483531-T-C 12362800-T-C **
19509829-C-A 17397949-C-A **
14295631-C-A 12174925-C-A **
13216441-C-A 11060765-C-A **
15921964-G-T 13810084-G-T **
4567077-C-A 4699036-C-A **
4094086-C-A 4226045-C-A **
15653584-C-A 13541704-C-A **
23185863-C-A 21023977-C-A **
13712227-C-A 11556551-C-A **
7140556-C-A 7272515-C-A **
23127041-C-A 20965155-C-A **
2865673-C-T 2997632-C-T FT362149 **
7489124-G-T 7621083-G-T IR1_L **
12555882-CAAAAA-C 24×A**
16624033-A-G 14512153-A-G **
10789702-C-T **
19913639-A-T 17801759-A-T P5_Prx **
4957910-G-T 5089869-G-T **
15140823-C-A 13028910-C-A **
16276051-C-A 14164171-C-A **
7221429-C-A 7353388-C-A **
13907740-C-A 11787034-C-A **
28714471-C-A 26568324-C-A **
28764956-C-A 26618809-C-A **
13480583-C-A 11324907-C-A **
2759914-G-A 2891873-G-A **
2928305-T-C 3060264-T-C **
2986173-C-A 3118132-C-A **
3011657-C-A 3143616-C-A **
3123293-A-C 3255252-A-C **
3267469-C-A 3399428-C-A **
3334620-G-A 3466579-G-A **
3334629-A-C 3466588-A-C **
3373759-A-G 3505718-A-G **
3697029-G-T 3828988-G-T **
3846726-T-C 3978685-T-C **
3847251-C-A 3979210-C-A **
4049867-G-A 4181826-G-A **
4106979-G-T 4238938-G-T **
4240858-G-A 4372817-G-A **
4272704-C-A 4404663-C-A **
4568303-G-C 4700262-G-C **
4673608-C-G 4805567-C-G **
4688008-C-A 4819967-C-A **
4702659-T-C 4834618-T-C **
4781260-A-T 4913219-A-T **
4902312-C-G 5034271-C-G **
4918844-C-A 5050803-C-A **
4921145-A-C 5053104-A-C **
4926366-T-A 5058325-T-A **
5030769-A-G 5162728-A-G **
5107953-A-T 5239912-A-T **
5190075-T-C 5322034-T-C **
5524054-T-C 5656013-T-C **
5546780-G-T 5678739-G-T **
5620696-C-A 5752655-C-A **
5844480-C-A 5976439-C-A **
5957393-CT-C 6089352-CT-C **
6129296-C-T 6261255-C-T **
6201973-T-C 6333932-T-C IR3_Dst **
6240794-A-T 6372753-A-T IR3_Dst **
6469541-G-T 6601500-G-T **
6490376-C-A 6622335-C-A **
6492048-C-A 6624007-C-A **
6505689-A-G 6637648-A-G **
6948243-G-C 7080202-G-C **
7015973-C-A 7147932-C-A **
7020334-C-A 7152293-C-A **
7039353-G-T 7171312-G-T **
7053862-A-G 7185821-A-G **
7080953-C-A 7212912-C-A **
7142016-C-T 7273975-C-T **
7156849-C-A 7288808-C-A **
7167732-A-G 7299691-A-G **
7174481-C-CT 7306440-C-CT 8×T**
7258604-A-G 7390563-A-G **
7286852-G-C 7418811-G-C **
7286867-A-T 7418826-A-T **
7312634-A-G 7444593-A-G 5×AGGG**
7572796-G-A 7704755-G-A **
7640997-T-C 7772956-T-C **
8067401-G-A 8199360-G-A **
8085354-G-A 8217313-G-A **
8230645-C-A 8362604-C-A **
8279671-A-T 8411630-A-T **
8321668-T-C 8453627-T-C **
8481967-T-TAAAA 8613926-T-TAAAA 15×A**
8673131-A-G 8805090-A-G **
8673743-C-A 8805702-C-A **
8913269-C-T 9045228-C-T **
9162916-C-A 9325307-C-A **
9352956-T-A 9515347-T-A **
9427479-T-C 9589870-T-C **
9436826-C-A 9599217-C-A **
9577043-A-T 9739434-A-T IR3_Prx **
9926814-C-T 10089205-C-T **
9934842-C-G 10097233-C-G **
9937832-C-A 10100223-C-A **
9971491-T-C 10133882-T-C **
10060873-C-CA 10223264-C-CA **
10652860-C-T **
10673574-C-A **
10673662-T-C **
10691396-C-A **
10755027-C-A **
10767873-T-A **
10767876-CATTCT-C **
10805890-G-T **
10809512-A-T **
10828978-T-C **
10828979-G-A **
10846446-C-A **
10874172-A-T **
11013704-C-G **
11013779-C-A **
13209340-C-A 11053664-C-A **
13212636-C-A 11056960-C-A **
13217330-C-A 11061654-C-A **
13218664-C-A 11062988-C-A **
13218757-C-G 11063081-C-G **
13218850-A-T 11063174-A-T **
13229770-C-A 11074094-C-A **
13257597-C-T 11101921-C-T **
13271521-C-A 11115845-C-A **
13489057-C-A 11333381-C-A **
13491796-T-C 11336120-T-C **
13510124-G-C 11354448-G-C **
13553301-C-A 11397625-C-A **
13643435-C-A 11487759-C-A **
13645467-C-A 11489791-C-A **
11652297-G-T **
13824909-G-A 11704203-G-A FT41214 **
13846581-A-G 11725875-A-G **
13847237-T-A 11726531-T-A **
13847244-G-GAATGC 11726538-G-GAATGC **
13868702-A-T 11747996-A-T **
13899308-C-A 11778602-C-A FT415904 **
13908453-C-T 11787747-C-T **
13974668-C-G 11853962-C-G **
14050030-C-A 11929324-C-A **
14076111-C-G 11955405-C-G **
14159856-A-G 12039150-A-G **
14188032-A-G 12067326-A-G **
14194904-G-T 12074198-G-T **
14213139-A-G 12092433-A-G **
14272560-A-G 12151854-A-G **
14286864-C-A 12166158-C-A **
14295228-A-C 12174522-A-C **
14297806-C-A 12177100-C-A **
14328088-C-A 12207382-C-A **
14357816-C-A 12237111-C-A **
14359869-T-A 12239164-T-A **
14446583-T-C 12325856-T-C **
14483527-A-C 12362796-A-C **
14483533-T-G 12362802-T-G **
14529197-G-T 12417398-G-T **
14568149-A-G 12456349-A-G FT111319 **
14584472-C-A 12472672-C-A **
14602667-C-A 12490869-C-A **
14774300-G-A 12662369-G-A **
14780989-C-A 12669059-C-A **
14788071-T-G 12676142-T-G **
14799952-T-C 12688023-T-C **
14823656-T-C 12711723-T-C **
14993891-C-A 12881976-C-A **
15060641-T-C 12948733-T-C **
15222097-T-C 13110183-T-C FT86858 **
15386428-GG-A 13274548-GG-A **
15386431-G-GAAGCA 13274551-G-GAAGCA **
15386438-T-C 13274558-T-C **
15386439-C-T 13274559-C-T **
15386458-G-C 13274578-G-C **
15397231-T-C 13285351-T-C **
15440026-G-T 13328146-G-T **
15495119-G-A 13383239-G-A **
15495221-A-C 13383341-A-C **
15495226-T-C 13383346-T-C **
15533254-A-C 13421374-A-C **
15636237-C-A 13524357-C-A **
15669866-A-T 13557986-A-T **
15685196-C-A 13573316-C-A **
15685316-C-A 13573436-C-A **
15756613-C-A 13644733-C-A **
16093062-T-C 13981182-T-C FT86932 **
16147501-A-G 14035621-A-G P8_Dst **
16181179-T-A 14069299-T-A **
16181182-G-A 14069302-G-A **
16181243-T-G 14069363-T-G **
16244896-A-G 14133016-A-G **
16277923-C-A 14166043-C-A **
16430247-T-C 14318367-T-C BY107712 **
16593737-T-C 14481857-T-C **
16598713-T-C 14486833-T-C **
16620306-T-A 14508426-T-A **
16829382-G-A 14717502-G-A FT226956 **
16847828-G-A 14735948-G-A **
16848418-G-A 14736538-G-A **
16941755-G-A 14829875-G-A **
17089104-G-A 14977224-G-A **
17175178-C-A 15063298-C-A **
17243852-A-T 15131972-A-T **
17264873-A-G 15152993-A-G **
17568439-T-A 15456559-T-A **
17691946-A-C 15580066-A-C FT87056 **
17795862-A-G 15683982-A-G **
17831085-A-G 15719205-A-G **
17831119-T-C 15719239-T-C **
17859873-G-C 15747993-G-C **
17883238-A-G 15771358-A-G **
17914562-G-C 15802682-G-C **
18022480-C-A 15910600-C-A **
18053436-C-A 15941556-C-A **
18100848-A-C 15988968-A-C **
18136141-A-G 16024261-A-G **
18177199-A-C 16065319-A-C **
18255916-C-A 16144036-C-A **
18462568-C-A 16350688-C-A P6_Dst **
18524592-T-C 16412712-T-C P6_Dst **
18627949-C-T 16516069-C-T **
18630660-C-A 16518780-C-A **
18780468-G-T 16668588-G-T **
18780469-G-T 16668589-G-T **
18855771-G-T 16743891-G-T **
18873776-C-A 16761896-C-A **
18880051-C-G 16768171-C-G FT87124 **
18911075-C-A 16799195-C-A **
18994498-C-A 16882618-C-A **
19012565-G-A 16900685-G-A **
19012572-C-G 16900692-C-G **
19071167-C-A 16959287-C-A **
19251411-T-A 17139531-T-A **
19298852-G-A 17186972-G-A **
19324310-G-A 17212430-G-A **
19479909-C-T 17368029-C-T **
19532482-C-A 17420602-C-A **
19547600-G-A 17435720-G-A **
19720587-C-A 17608707-C-A P5_Prx **
20842427-A-G 18680541-A-G P4_Dst **
20842485-A-T 18680599-A-T P4_Dst **
21111765-A-G 18949879-A-G **
21115835-C-A 18953949-C-A **
21197757-A-C 19035871-A-C **
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21383248-T-C 19221362-T-C **
21447947-AT-A 19286061-AT-A **
21464536-C-CAAA 19302650-C-CAAA 19×A**
21495562-T-C 19333676-T-C **
21540948-C-A 19379062-C-A **
21677559-A-G 19515673-A-G **
21738756-G-A 19576870-G-A **
21796450-G-T 19634564-G-T **
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21948861-A-G 19786975-A-G **
21954601-C-CT 19792715-C-CT **
22122947-C-A 19961061-C-A **
22171537-A-G 20009651-A-G **
22615390-C-A 20453504-C-A **
22639364-T-C 20477478-T-C Y78407 **
22775478-A-G 20613592-A-G **
22800690-C-A 20638804-C-A FT35344 **
22950026-G-T 20788140-G-T **
23047511-C-A 20885625-C-A **
23086840-A-G 20924954-A-G **
23097094-C-A 20935208-C-A **
23188165-T-C 21026279-T-C **
23199853-C-A 21037967-C-A **
23505014-C-A 21343128-C-A FTB53713 **
23983716-G-T 21837569-G-T **
24044127-C-A 21897980-C-A **
24401983-C-A 22255836-C-A **
24447219-G-T 22301072-G-T **
26328322-A-G 24182175-A-G BY196770 P1_Y1 **
26345796-T-C 24199649-T-C P1_Y1 **
26379334-C-A 24233187-C-A P1_Y1 **
26400672-C-A 24254525-C-A P1_Y1 **
26834643-G-T 24688496-G-T P1_g2 **
28429462-C-A 26283315-C-A P1_gr2 **
28492409-T-C 26346262-T-C **
28497114-A-G 26350967-A-G **
28505343-C-A 26359196-C-A **
28510262-A-G 26364115-A-G **
28510287-C-A 26364140-C-A **
28530862-C-T 26384715-C-T **
28531231-C-A 26385084-C-A **
28537048-A-G 26390901-A-G **
28632895-C-A 26486748-C-A **
28653308-A-T 26507161-A-T **
28722436-T-TAAA 26576289-T-TAAA 13×A**
28726780-C-A 26580633-C-A **
28773824-T-C 26627677-T-C **
28798973-T-A 26652826-T-A **
56829001-T-A **
56833048-C-A **
56833518-C-A **
56842609-G-T **
56844381-T-G **
24310100-ATGTT-A 22163953-ATGTT-A P3_t1 ***
22438541-T-G 20276655-T-G DYZ19 ***
22438732-A-G 20276846-A-G A4257A4257 DYZ19 ***
13445566-A-G 11289890-A-G ***
13454837-C-T 11299161-C-T ***
19968934-T-A 17857054-T-A P5_Prx ***
22227265-T-C 20065379-T-C DYZ19 ***
22240179-A-G 20078293-A-G DYZ19 ***
22248217-G-A 20086331-G-A DYZ19 ***
22292040-C-T 20130154-C-T DYZ19 ***
22328889-A-T 20167003-A-T DYZ19 ***
22428336-C-T 20266450-C-T DYZ19 ***
22428356-T-C 20266470-T-C DYZ19 ***
22435477-C-T 20273591-C-T DYZ19 ***
22438714-A-C 20276828-A-C DYZ19 ***
24172240-G-A 22026093-G-A P3_b1 ***
24193589-T-C 22047442-T-C P3_b1 ***
24211068-C-G 22064921-C-G P3_b1 ***
25146096-G-A 22999949-G-A g1 ***
26166541-A-C 24020394-A-C P1_Y1 ***
26172449-T-A 24026302-T-A P1_Y1 ***
24831000-G-GA 22684853-G-GA P3_b2 8×A***
14980831-CTT-C,CT 12868907-CTT-C,CT 15×T***
56833385-G-T ***
5818062-C-A 5950021-C-A ***
7866225-C-A 7998184-C-A ***
14286806-TG-G,TT 12166100-TG-G,TT ***
11643751-A-ACGAAT ***
8533407-CTTT-C 8665366-CTTT-C 14×T***
24223344-C-A 22077197-C-A P3_b1 ***
6427044-C-A 6559003-C-A ***
13457242-AATTCC-A 11301566-AATTCC-A 5×ATTCC***
2684810-C-A 2816769-C-A ***
2803695-C-A 2935654-C-A ***
2803840-T-A 2935799-T-A ***
3865928-C-A 3997887-C-A ***
4538291-C-T 4670250-C-T ***
6427581-C-A 6559540-C-A ***
10016574-C-A 10178965-C-A ***
10033601-C-A 10195992-C-A ***
10999904-C-A ***
13442721-C-A 11287045-C-A ***
13448785-ACACCACTCCACTCCG-A,ACTCCACTCCATTCCACTCCACTCCAGTCCG 11293109-ACACCACTCCACTCCG-A,ACTCCACTCCATTCCACTCCACTCCAGTCCG ***
13459283-TTCCAT-T,TTCCAC 11303607-TTCCAT-T,TTCCAC ***
13469778-G-C 11314102-G-C ***
13469962-G-C 11314286-G-C ***
13545279-GA-G 11389603-GA-G ***
13862565-G-T 11741859-G-T ***
14766821-T-C 12654890-T-C ***
14788255-C-A 12676326-C-A ***
14949276-A-G 12837350-A-G ***
15700040-C-A 13588160-C-A ***
15927657-C-A 13815777-C-A ***
18406796-T-C 16294916-T-C P6_Gap ***
18906157-C-A 16794277-C-A ***
22028877-C-A 19866991-C-A ***
22527033-CA-C 20365147-CA-C 8×A***
22542526-T-C 20380640-T-C ***
23062826-A-C 20900940-A-C ***
26439124-G-T 24292977-G-T P1_Y1 ***
56829364-C-A ***
56833288-TTCCATTCCACTCCATTCCAT-T,TGCCATTCCATTCCACTCCAC ***
56833343-CTCCAT-C ***
56849403-G-T ***

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.

Mutation Notes:

Kit POSITION-REF-ALT (hg19) POSITION-REF-ALT (hg38) Note
Manual4854984-T-C4986943-T-CFTDNA SNP Results, possibly Geno 2.0.