Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13

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
360200
19873780-T-G 17761900-T-G P5_Prx A*
20728420-T-C 18566534-T-C P4_Prx A*
22291690-A-C 20129804-A-C DYZ19 A*
26018054-T-A 23871907-T-A P1_Y1 A*
14370165-G-A 12249461-G-A Z19754 YY+
22120867-G-A 19958981-G-A Y1771 FGC2268 S23993 YY+
22467010-G-T 20305124-G-T BY24562 DYZ19 +
2795843-A-G 2927802-A-G BY23392 YY+
7352590-A-G 7484549-A-G BY64707 YY+
7652248-G-C 7784207-G-C BY66560 YY+
7668903-A-G 7800862-A-G BY66691 YY+
8068336-C-G 8200295-C-G BY23540 YY+
8193828-G-A 8325787-G-A BY23550 YY+
8247995-A-C 8379954-A-C BY23558 YY+
8418021-T-C 8549980-T-C BY72519 YY+
8447368-A-G 8579327-A-G BY23579 YY+
8609763-A-C 8741722-A-C BY23604 YY+
8672195-T-C 8804154-T-C BY42782 YY+
8848604-G-A 8980563-G-A BY42792 YY+
8875852-C-T 9007811-C-T BY76535 Y+
9984111-G-T 10146502-G-T BY82468 Y+
13593833-G-T 11438157-G-T BY86564 +
13647946-G-A 11492270-G-A ZS6741 +
14563784-G-A 12451984-G-A Y49667 Y+
14770887-C-A 12658956-C-A BY23853 YY+
15288398-G-T 13176497-G-T BY23888 Y+
15587932-C-T 13476052-C-T BY102718 YY+
16193188-T-G 14081308-T-G BY23938 YY+
16448064-TC-T 14336184-TC-T +
16854246-T-C 14742366-T-C BY23996 YY+
17237995-C-T 15126115-C-T BY24035 YY+
17384826-C-T 15272946-C-T BY24049 YY+
17589297-T-A 15477417-T-A BY115946 YY+
17675722-G-C 15563842-G-C BY116565 YY+
17713625-G-C 15601745-G-C BY24081 YY+
17814512-T-C 15702632-T-C BY117594 YY+
17986777-G-T 15874897-G-T BY119020 P7_Prx Y+
19170931-T-A 17059051-T-A BY126940 Y+
19419031-C-T 17307151-C-T BY24230 YY+
21135651-G-A 18973765-G-A BY24265 YY+
21169174-A-G 19007288-A-G BY24269 YY+
21360932-C-T 19199046-C-T BY132336 YY+
21370822-T-C 19208936-T-C BY43609 YY+
22199645-T-C 20037759-T-C BY24365 YY+
22229005-C-T 20067119-C-T BY43657 DYZ19 +
22271447-A-C 20109561-A-C BY215192 DYZ19 +
22554364-G-A 20392478-G-A BY24665 YY+
23245330-C-T 21083444-C-T BY55446 YY+
23281234-G-A 21119348-G-A BY144326 YY+
19428-G-C +
22253814-A-G 20091928-A-G DYZ19 *
22442861-C-A 20280975-C-A DYZ19 *
13843923-A-AGGAATGGAAT 11723217-A-AGGAATGGAAT 14×GGAAT*
17892990-C-T 15781110-C-T YY*
28745439-ATATGTG-A 26599292-ATATGTG-A *
28818699-A-T 26672552-A-T *
22444263-G-T 20282377-G-T DYZ19 **
58987526-G-A 56841379-G-A **
58990743-C-T 56844596-C-T **
17840282-G-A 15728402-G-A FGC26980 **
17323457-A-G 15211577-A-G **
22489628-T-G 20327742-T-G DYZ19 **
15823898-T-G 13712018-T-G **
11025949-A-T **
4114685-ATTT-A 4246644-ATTT-A 15×T**
56841655-C-A **
56841660-A-G **
56841681-T-G **
7018058-G-A 7150017-G-A **
11673422-C-A **
10768141-T-C **
19138577-C-A 17026697-C-A **
7241131-C-A 7373090-C-A **
3116530-C-A 3248489-C-A **
17795776-C-A 15683896-C-A **
18847973-C-A 16736093-C-A **
18636612-C-CTT 16524732-C-CTT 17×T**
17203327-CTTTTTTTT-C 15091447-CTTTTTTTT-C 21×T**
18188275-G-T 16076395-G-T **
10768136-T-C **
7197382-C-A 7329341-C-A **
10924600-G-T **
5968565-C-T 6100524-C-T **
4103124-C-A 4235083-C-A **
56841584-C-A **
13884562-C-A 11763856-C-A **
10942644-T-C **
4174916-C-A 4306875-C-A **
2814859-C-A 2946818-C-A **
13963334-C-A 11842628-C-A **
14610533-C-A 12498735-C-A **
21318284-C-A 19156398-C-A **
10866407-C-A **
28544411-C-A 26398264-C-A **
10686916-T-C **
10967468-C-T **
4604376-C-A 4736335-C-A **
10935994-C-T **
16932793-C-A 14820913-C-A **
10935958-A-C **
2744893-G-C 2876852-G-C **
2746065-G-A 2878024-G-A Y81352 **
2866206-C-A 2998165-C-A **
3089992-G-T 3221951-G-T **
3116392-A-G 3248351-A-G FT316145 **
3116562-A-G 3248521-A-G **
3165481-C-T 3297440-C-T **
3271774-G-T 3403733-G-T **
3384775-C-A 3516734-C-A **
3388595-C-A 3520554-C-A **
3536934-G-T 3668893-G-T **
3545774-C-A 3677733-C-A FT419696 **
3610407-C-A 3742366-C-A **
3640420-A-T 3772379-A-T **
3732585-C-A 3864544-C-A **
3753839-C-A 3885798-C-A **
3766214-G-T 3898173-G-T **
3790957-A-T 3922916-A-T **
3804171-G-T 3936130-G-T **
3817300-T-C 3949259-T-C **
3948660-G-T 4080619-G-T **
3992161-C-A 4124120-C-A **
4017124-C-T 4149083-C-T **
4101067-T-C 4233026-T-C **
4271804-C-A 4403763-C-A **
4272556-T-C 4404515-T-C **
4292972-T-C 4424931-T-C **
4293009-A-T 4424968-A-T **
4316335-A-G 4448294-A-G **
4433400-TA-T 4565359-TA-T **
4447660-G-T 4579619-G-T **
4533553-A-T 4665512-A-T **
4538751-C-A 4670710-C-A **
4650942-C-A 4782901-C-A **
4756582-A-T 4888541-A-T **
4778214-G-A 4910173-G-A **
4778369-C-A 4910328-C-A **
4805406-C-A 4937365-C-A **
4862038-T-A 4993997-T-A **
4898980-G-A 5030939-G-A **
4906187-G-T 5038146-G-T **
4954311-A-T 5086270-A-T **
5060895-G-T 5192854-G-T **
5112584-G-T 5244543-G-T **
5121490-G-T 5253449-G-T **
5142545-G-T 5274504-G-T **
5214424-C-A 5346383-C-A **
5216387-T-C 5348346-T-C **
5293938-C-T 5425897-C-T **
5313532-T-G 5445491-T-G **
5421138-A-C 5553097-A-C **
5708153-A-T 5840112-A-T **
5720977-C-A 5852936-C-A **
5813392-A-T 5945351-A-T **
5867620-C-A 5999579-C-A **
5869454-C-A 6001413-C-A **
5892160-C-A 6024119-C-A **
5892449-C-A 6024408-C-A **
5923714-T-C 6055673-T-C **
5968393-C-A 6100352-C-A **
5968566-T-G 6100525-T-G **
5968568-C-G 6100527-C-G **
5968573-T-C 6100532-T-C **
6026682-C-A 6158641-C-A **
6148742-A-C 6280701-A-C IR3_Dst **
6357988-G-T 6489947-G-T **
6403478-G-A 6535437-G-A **
6416590-G-T 6548549-G-T **
6435824-T-C 6567783-T-C **
6444831-C-A 6576790-C-A **
6445160-C-A 6577119-C-A **
6465061-GA-G 6597020-GA-G **
6518073-G-T 6650032-G-T **
6580498-GC-G 6712457-GC-G **
6799142-T-G 6931101-T-G **
6799143-G-A 6931102-G-A **
6799150-A-TG 6931109-A-TG **
6799155-C-T 6931114-C-T **
6799156-A-G 6931115-A-G **
6833041-C-A 6965000-C-A **
7029730-C-A 7161689-C-A **
7042927-C-A 7174886-C-A **
7048156-C-A 7180115-C-A **
7093225-C-A 7225184-C-A **
7115514-G-T 7247473-G-T **
7115518-T-G 7247477-T-G **
7115535-G-GAT 7247494-G-GAT **
7164232-C-A 7296191-C-A **
7164407-C-A 7296366-C-A **
7195251-T-A 7327210-T-A **
7221479-T-C 7353438-T-C **
7240362-C-A 7372321-C-A **
7240849-C-A 7372808-C-A **
7640969-C-A 7772928-C-A **
7758344-C-A 7890303-C-A **
7860410-C-A 7992369-C-A **
8110498-A-G 8242457-A-G **
8218120-C-CT 8350079-C-CT 15×TTCT**
8265885-G-A 8397844-G-A BY172729 **
8269944-T-A 8401903-T-A **
8314265-G-A 8446224-G-A **
8314297-C-CAT 8446256-C-CAT **
8314299-C-CA 8446258-C-CA **
8314301-CGCT-C 8446260-CGCT-C **
8314312-CC-T 8446271-CC-T **
8482018-A-G 8613977-A-G **
8669565-C-A 8801524-C-A **
8731211-C-A 8863170-C-A **
8749021-GC-G 8880980-GC-G **
8822466-C-A 8954425-C-A **
8848239-T-C 8980198-T-C **
9117685-G-T FT248645 **
9076012-C-A 9238403-C-A **
9446130-G-A 9608521-G-A BY79445 **
9498556-C-A 9660947-C-A **
9501074-C-T 9663465-C-T **
9511466-A-G 9673857-A-G FTA35640 **
9702800-G-T 9865191-G-T IR3_Prx **
10005995-C-A 10168386-C-A **
10010366-T-C 10172757-T-C **
10011203-A-G 10173594-A-G **
10671458-T-C **
10671736-C-A **
10678740-G-T **
10683211-TC-T **
10684071-C-A **
10692270-C-T **
10744572-T-C **
10745397-C-A **
10745532-C-A **
10748155-T-A **
10752746-G-C **
10760451-A-G **
10768595-C-T **
10768620-T-TCCAAC **
10774400-C-A **
10775401-C-A **
10790445-A-T **
10793871-C-A **
10812256-C-T **
10816310-T-C **
10829289-C-A **
10833730-C-A **
10839698-G-A **
10844904-A-C **
10863861-C-A **
10867679-G-A FT230059 **
10868249-C-T FTB16951 **
10885047-C-A **
10885197-C-A **
10896077-T-C **
10896293-AATTCCATTCCATTCCATTCCATTCCATTCCATTCCATTCC-A **
10898975-CA-C **
10921734-C-A **
10935933-T-A **
10935945-T-A **
10935948-G-C **
10935954-C-G **
10935998-G-A **
10942654-T-TTCAGC **
10944593-C-G **
10948463-T-C **
10951656-C-A **
10956803-C-CAA **
10961266-C-A **
10967836-G-T **
10973728-T-A **
10982350-G-T **
10984694-C-A **
10988036-T-C **
10988036-TTCCAG-T **
10991398-C-A **
11000929-G-T **
11012189-G-T **
11016406-G-T **
11025914-A-T **
11025935-C-A **
11025954-A-C **
11025955-T-A **
11025965-C-T **
13200494-G-A 11044818-G-A **
13200553-C-A 11044877-C-A **
13218873-A-G 11063197-A-G FT441099 **
13237680-C-A 11082004-C-A **
13272851-T-C 11117175-T-C **
13311794-G-A 11156118-G-A **
13500455-G-T 11344779-G-T **
13520583-G-A 11364907-G-A **
13583133-A-T 11427457-A-T **
13583143-T-C 11427467-T-C **
13587785-C-A 11432109-C-A **
13633198-C-A 11477522-C-A **
11644706-C-T FT225334 **
11652464-G-A **
11669301-C-T **
11669899-C-A FT451136 **
11676517-G-A **
13919857-C-A 11799151-C-A **
13929357-C-G 11808651-C-G **
13940951-G-A 11820245-G-A **
13974719-GTC-G 11854013-GTC-G **
13996328-C-A 11875622-C-A **
14043820-G-T 11923114-G-T FTA30837 **
14157584-G-T 12036878-G-T **
14250584-G-T 12129878-G-T **
14300467-T-C 12179761-T-C **
14312004-C-A 12191298-C-A **
14352273-T-C 12231568-T-C **
14373821-C-A 12253117-C-A **
14397679-T-G 12276975-T-G **
14431626-A-G 12310899-A-G **
14450360-C-A 12329633-C-A **
14476003-G-A 12355272-G-A **
12370800-G-A **
14499520-C-T 12387725-C-T **
14499523-G-A 12387728-G-A **
14518512-A-C 12406713-A-C **
14539213-G-A 12427414-G-A **
14552550-C-A 12440751-C-A **
14736286-C-A 12624354-C-A **
14792907-C-A 12680978-C-A **
14815432-C-A 12703503-C-A **
14858817-A-G 12746883-A-G **
14871345-C-A 12759415-C-A **
14910958-C-A 12799025-C-A **
15011653-G-A 12899741-G-A **
15127852-C-A 13015939-C-A **
15178366-T-C 13066452-T-C **
15201348-C-A 13089434-C-A **
15202369-C-A 13090455-C-A **
15631826-G-A 13519946-G-A FTB71740 **
15773498-G-T 13661618-G-T **
15774462-G-T 13662582-G-T **
15791158-C-A 13679278-C-A **
15894006-C-A 13782126-C-A **
16002950-C-A 13891070-C-A **
16147491-AGAGAG-A 14035611-AGAGAG-A P8_Dst **
16181366-G-A 14069486-G-A **
16270641-C-A 14158761-C-A **
16277742-T-C 14165862-T-C **
16295803-G-T 14183923-G-T **
16295815-A-T 14183935-A-T **
16302335-C-A 14190455-C-A **
16427380-G-A 14315500-G-A **
16528193-T-C 14416313-T-C **
16528194-G-A 14416314-G-A **
16588253-T-A 14476373-T-A **
16616779-G-T 14504899-G-T **
16618457-G-A 14506577-G-A **
16623255-G-T 14511375-G-T **
16703720-C-T 14591840-C-T **
16738196-C-A 14626316-C-A **
16828839-C-A 14716959-C-A **
16922229-C-A 14810349-C-A **
16931522-G-A 14819642-G-A **
16932926-C-A 14821046-C-A **
16998964-T-C 14887084-T-C **
17006341-A-T 14894461-A-T **
17175341-T-C 15063461-T-C **
17203338-T-C 15091458-T-C **
17315305-T-C 15203425-T-C **
17375162-G-T 15263282-G-T **
17500861-G-T 15388981-G-T **
17588934-C-A 15477054-C-A **
17622755-C-CCA 15510875-C-CCA 11×A**
17739886-C-A 15628006-C-A **
17779071-G-A 15667191-G-A **
17779437-C-A 15667557-C-A **
17788931-TG-T 15677051-TG-T **
17859800-C-A 15747920-C-A **
18059227-C-A 15947347-C-A **
18153420-G-A 16041540-G-A **
18155512-C-A 16043632-C-A **
18157019-G-A 16045139-G-A **
18183363-C-A 16071483-C-A **
18186322-G-T 16074442-G-T **
18187089-C-A 16075209-C-A **
18190788-G-A 16078908-G-A **
18200996-T-A 16089116-T-A **
18390145-C-A 16278265-C-A P6_Gap **
18402450-C-A 16290570-C-A P6_Gap **
18423865-C-A 16311985-C-A P6_Gap **
18518300-A-C 16406420-A-C P6_Dst **
18701817-C-A 16589937-C-A **
18753434-C-A 16641554-C-A **
18933781-C-A 16821901-C-A **
18965144-G-T 16853264-G-T **
19012409-T-C 16900529-T-C **
19036745-A-AT 16924865-A-AT **
19079234-CTTTTT-C 16967354-CTTTTT-C 19×T**
19125275-T-A 17013395-T-A **
19126389-G-T 17014509-G-T **
19298639-A-G 17186759-A-G **
19298675-T-G 17186795-T-G **
19300808-C-A 17188928-C-A **
19992139-G-T 17880259-G-T P5_Prx **
20284617-T-CC 18122731-T-CC P5_Dst **
20433611-TA-T 18271725-TA-T P5_Dst **
20436039-A-T 18274153-A-T P5_Dst **
20631839-G-T 18469953-G-T P4_Prx **
21275639-G-T 19113753-G-T **
21392590-C-A 19230704-C-A **
21405935-A-C 19244049-A-C FTA32686 **
21462631-G-T 19300745-G-T **
21467840-C-A 19305954-C-A **
21498906-A-G 19337020-A-G **
21635197-G-A 19473311-G-A **
21651751-C-A 19489865-C-A **
21771357-C-A 19609471-C-A **
22100889-A-G 19939003-A-G **
22228020-T-A 20066134-T-A DYZ19 **
22228024-G-T 20066138-G-T DYZ19 **
22228027-A-T 20066141-A-T DYZ19 **
22228035-A-T 20066149-A-T DYZ19 **
22228059-C-A 20066173-C-A DYZ19 **
22228070-G-A 20066184-G-A DYZ19 **
22228084-T-C 20066198-T-C A3916 DYZ19 **
22287143-T-A 20125257-T-A DYZ19 **
22420092-T-A 20258206-T-A DYZ19 **
22536424-T-C 20374538-T-C **
22703704-A-G 20541818-A-G BY140153 **
22851679-C-A 20689793-C-A **
23056137-C-A 20894251-C-A **
23065635-C-A 20903749-C-A **
23126674-C-A 20964788-C-A **
23184752-G-T 21022866-G-T **
23360804-C-A 21198918-C-A **
23491061-T-G 21329175-T-G **
23848159-C-A 21686273-C-A **
24422566-T-C 22276419-T-C **
24458742-C-T 22312595-C-T **
25804911-T-A 23658764-T-A P1_b3 **
25804920-G-T 23658773-G-T P1_b3 **
25804936-CAA-C 23658789-CAA-C P1_b3 **
26010192-T-G 23864045-T-G P1_Y1 **
27398637-G-T 25252490-G-T P1_g3 **
27417813-G-C 25271666-G-C P1_g3 **
27583302-G-T 25437155-G-T P1_Y2 **
27889341-A-G 25743194-A-G P1_Y2 **
27952220-T-A 25806073-T-A P1_Y2 **
28073296-TA-T 25927149-TA-T P1_Y2 **
28506606-G-A 26360459-G-A **
28532618-C-A 26386471-C-A FT65464 **
28548729-G-T 26402582-G-T **
28581630-GATATATATATAT-G 26435483-GATATATATATAT-G 19×AT**
28608386-C-A 26462239-C-A **
28610315-T-A 26464168-T-A **
28612079-C-A 26465932-C-A **
28624450-G-A 26478303-G-A **
28687333-C-A 26541186-C-A **
28701436-A-C 26555289-A-C **
28734794-C-A 26588647-C-A **
28772953-G-A 26626806-G-A **
28797252-G-C 26651105-G-C **
56848526-C-A **
14180886-C-A 12060180-C-A ***
28635707-C-A 26489560-C-A ***
5824690-C-A 5956649-C-A ***
10776065-C-T ***
3832298-C-G 3964257-C-G ***
4129198-C-A 4261157-C-A ***
4585928-C-A 4717887-C-A FT78176 ***
8379126-C-A 8511085-C-A ***
8816378-G-A 8948337-G-A ***
8852009-C-T 8983968-C-T FT78963 ***
8852092-C-T 8984051-C-T ***
10657138-T-A ***
10678026-CCATTG-C,CCATTC ***
10932233-C-A ***
13196413-T-A 11040737-T-A ***
13248892-C-A 11093216-C-A ***
13896443-C-A 11775737-C-A ***
14180865-A-G 12060159-A-G ***
14180902-C-A 12060196-C-A ***
14704250-C-A 12592316-C-A ***
14986616-TTCTCTC-T,TTCTC 12874684-TTCTCTC-T,TTCTC 17×TC***
15402014-C-A 13290134-C-A ***
16423893-C-A 14312013-C-A ***
17324279-G-A 15212399-G-A FTA50485 ***
19322524-AC-A 17210644-AC-A ***
19486859-CTT-C,CT 17374979-CTT-C,CT 16×T***
19509729-C-A 17397849-C-A ***
22529453-C-A 20367567-C-A ***

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.