Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > ZZ45 > Z36/S206 > FGC6417 > FGC6424

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 STRFGC
JO1D9
Manual
Edits
22474309-G-T 20312423-G-T FGC6432 DYZ19 +
4372136-A-G 4504095-A-G FGC6436 +
4669709-T-G 4801668-T-G FGC6437 +
5890358-G-C 6022317-G-C FGC6438 +
7568220-T-G 7700179-T-G FGC6439 YY+
8106149-T-A 8238108-T-A FGC6440 YY+
14033292-C-T 11912586-C-T FGC6443 YY+
14049928-T-C 11929222-T-C BY46842FGC6444 YY+
14397464-T-G 12276760-T-G FGC6445 YY+
15021057-A-G 12909146-A-G FGC6446 YY+
15049201-C-T 12937292-C-T FGC6447 YY+
16091366-T-C 13979486-T-C FGC6448 Y+
16493764-T-C 14381884-T-C FGC6449 YY+
16630754-A-C 14518874-A-C FGC6450 YY+
17094925-T-C 14983045-T-C FGC6451 YY+
17482699-C-A 15370819-C-A FGC6452 Y+
18606176-A-G 16494296-A-G FGC6453 YY+
21326907-A-T 19165021-A-T FGC6454 YY+
22547596-T-C 20385710-T-C FGC6456 Y+
22584898-T-C 20423012-T-C FGC6457 YY+
23262562-G-T 21100676-G-T FGC8072 YY+
23894559-A-G 21732673-A-G FGC6458 Y+
8733235-G-A 8865194-G-A FGC6441 Y*
9734247-C-T 9896638-C-T FGC6442 IR3_Prx *
22531838-C-A 20369952-C-A FGC6455 Y*
24886409-CA-C 22740262-CA-C FGC6460 g1 *
14258540-A-G 12137834-A-G **
23747205-C-CTTTTTT 21585319-C-CTTTTTT 29×T**
58844098-T-G 56746773-A-C **
19293770-C-CAAAA 17181890-C-CAAAA 29×A**
3217865-C-A 3349824-C-A FGC81357 **
4847191-C-A 4979150-C-A **
13223048-G-A 11067372-G-A **
17214023-GGAAATCATGTGATCTCACCTAGCTATACCT-G 15102143-GGAAATCATGTGATCTCACCTAGCTATACCT-G **
9735605-G-GTTTTTTTTT 9897996-G-GTTTTTTTTT IR3_Prx 30×T**
18965976-A-AGCCT 16854096-A-AGCCT **
15865946-C-CTTTT 13754066-C-CTTTT 37×T**
22491017-G-C 20329131-G-C DYZ19 ***
22421369-A-G 20259483-A-G DYZ19 ***
22421962-T-A 20260076-T-A DYZ19 ***
9202147-C-A 9364538-C-A ***
13129664-C-T 10619150-C-T ***
13129671-A-G 10619157-A-G ***
13129672-T-C 10619158-T-C ***
13129673-T-C 10619159-T-C ***
13129674-T-C 10619160-T-C ***
13129675-A-T 10619161-A-T ***
13129686-A-T 10619172-A-T ***
14258574-C-A 12137868-C-A ***
58872625-T-C 56718246-A-G ***
58898532-G-T 56692339-C-A ***
13129525-ATGTGAT-CTATGAG 10619011-ATGTGAT-CTATGAG ***
20326007-C-CTTTTTTT 18164121-C-CTTTTTTT P5_Dst 29×T***
22365859-GCA-TAG 20203973-GCA-TAG DYZ19 ***
58885276-TATTTTATTCCATGCC-T 56705575-CAAATGGCATGGAATA-C ***
4976814-G-A 5108773-G-A ***
58979740-CA-TG 56833593-CA-TG ***
26538252-CA-C 24392105-CA-C P1_g2 17×A***
22421969-G-T 20260083-G-T DYZ19 ***
22495737-A-T 20333851-A-T DYZ19 ***
58861978-C-T 56728893-G-A ***
13203978-CCTC-GTAT 11048302-CCTC-GTAT ***
10090739-A-C 10253130-A-C ***
10090675-G-T 10253066-G-T ***
10090697-A-C 10253088-A-C ***
22236511-C-A 20074625-C-A DYZ19 ***
22263770-G-A 20101884-G-A DYZ19 ***
22360595-T-G 20198709-T-G DYZ19 ***
58841100-T-C 56749771-A-G ***
58846314-G-A 56744557-C-T ***
58906363-C-G 56684508-G-C ***
22268395-C-CAAGA 20106509-C-CAAGA DYZ19 ***
22263752-CAATACA-TACTTCC 20101866-CAATACA-TACTTCC DYZ19 ***
13740850-C-T 11585174-C-T DYZ17 ***
22342707-T-A 20180821-T-A DYZ19 ***
22342722-C-T 20180836-C-T DYZ19 ***
58841085-A-C 56749786-T-G ***
13488439-TG-CA 11332763-TG-CA ***
13129498-GTGCT-CTGCC 10618984-GTGCT-CTGCC ***
13483584-AC-A 11327908-AC-A ***
13484476-GAGCA-AAGCC 11328800-GAGCA-AAGCC ***
18297876-C-CTTTTT 16185996-C-CTTTTT P6_Prx 31×T***
19098471-AC-A 16986591-AC-A ***
22235304-TC-T 20073418-TC-T DYZ19 ***
22341141-GTG-ATT 20179255-GTG-ATT DYZ19 ***
22273608-G-T 20111722-G-T DYZ19 ***
10018107-GGT-TGC 10180498-GGT-TGC ***
10090701-A-G 10253092-A-G ***
10090710-A-G 10253101-A-G ***
22232094-A-C 20070208-A-C DYZ19 ***
22232097-T-G 20070211-T-G DYZ19 ***
22503500-GG-TT 20341614-GG-TT DYZ19 ***
58823284-TCTCAT-A 56767582-ATGAGA-T ***
22503361-A-G 20341475-A-G DYZ19 ***
10090738-A-G 10253129-A-G ***
58898478-C-G 56692393-G-C ***
22723386-C-CAAAAAAA 20561500-C-CAAAAAAA 17×A***
14258596-G-A 12137890-G-A ***
58910519-G-C 56680352-C-G ***
17835121-G-A 15723241-G-A ***
26499948-G-T 24353801-G-T P1_Y1 ***
58885486-C-G 56705385-G-C ***
22269605-TATAG-GCCAC 20107719-TATAG-GCCAC DYZ19 ***
22234424-CTCT-GTCA 20072538-CTCT-GTCA DYZ19 ***
58843764-AGATTCCATTCCGTAC-A 56747080-AGGAATGGAATCGTAC-A ***
22481870-T-C 20319984-T-C DYZ19 ***
58840537-A-G 56750334-T-C ***
58852107-T-C 56738764-A-G ***
58874455-A-T 56716416-T-A ***
22341656-GAAG-CAAC 20179770-GAAG-CAAC DYZ19 ***
22504416-CGAA-AGAC 20342530-CGAA-AGAC DYZ19 ***
22252927-C-T 20091041-C-T DYZ19 ***
9939260-G-A 10101651-G-A FT361920 ***
22309590-C-T 20147704-C-T BY23146 DYZ19 ***
22491012-G-A 20329126-G-A DYZ19 ***
58873002-C-T 56717869-G-A ***
22309574-AC-TT 20147688-AC-TT DYZ19 ***
22366009-GTTG-TTTT 20204123-GTTG-TTTT DYZ19 ***
58874479-G-C 56716392-C-G ***
58895472-G-A 56695399-C-T ***
8462064-C-CAAAA 8594023-C-CAAAA 26×A***
58848719-TG-AT 56742151-CA-AT ***
22756974-T-C 20595088-T-C ***
22367518-T-A 20205632-T-A DYZ19 ***
22267319-C-T 20105433-C-T DYZ19 ***
58843643-C-T 56747228-G-A 4×CCATT***
22361553-A-T 20199667-A-T DYZ19 ***
22344854-ACA-CCT 20182968-ACA-CCT DYZ19 ***
22352926-C-CAAGA 20191040-C-CAAGA DYZ19 ***
22276447-G-T 20114561-G-T DYZ19 ***
26152085-T-C 24005938-T-C P1_Y1 ***
13483792-TCC-CCT 11328116-TCC-CCT ***
22367501-G-C 20205615-G-C DYZ19 ***
58872992-T-A 56717879-A-T ***
58872996-C-A 56717875-G-T ***
58873001-T-C 56717870-A-G ***
22289731-TG-GA 20127845-TG-GA DYZ19 ***
59007432-C-CTTTAT 56861285-C-CTTTAT 18×T***
13726504-A-G 11570828-A-G DYZ17 ***
58843581-A-C 56747290-T-G ***
22267471-C-G 20105585-C-G DYZ19 ***
23108993-GT-G 20947107-GT-G 12×T***
22971946-C-T 20810060-C-T CTS11137 ***
22971958-T-C 20810072-T-C CTS11138 ***
9961025-AT-GC 10123416-AT-GC ***
22446152-AC-A 20284266-AC-A DYZ19 ***
58873021-T-C 56717850-A-G ***
4911506-T-A 5043465-T-A ***
9428966-T-C 9591357-T-C ***
22248286-A-G 20086400-A-G DYZ19 ***
22248289-A-G 20086403-A-G DYZ19 ***
13489029-TGCGC-CGCGT 11333353-TGCGC-CGCGT ***
9216149-G-T 9378540-G-T ***
22502126-T-G 20340240-T-G DYZ19 ***
22503472-T-C 20341586-T-C DYZ19 ***
58829085-C-A 56761786-G-T ***
22247985-T-A 20086099-T-A DYZ19 ***
22481563-GCAGT-ACAGC 20319677-GCAGT-ACAGC DYZ19 ***
22237314-C-CA 20075428-C-CA DYZ19 ***
13708405-C-G 11552729-C-G DYZ17 ***
22282205-C-T 20120319-C-T DYZ19 ***
58882015-C-G 56708856-G-C ***
22341804-A-G 20179918-A-G DYZ19 ***
22341805-C-T 20179919-C-T DYZ19 ***
26210152-G-A 24064005-G-A P1_Y1 ***
26210158-C-A 24064011-C-A P1_Y1 ***
26210238-C-T 24064091-C-T P1_Y1 ***
5433985-A-G 5565944-A-G FT323885 ***
9428985-T-C 9591376-T-C ***
9428998-A-C 9591389-A-C ***
25719570-A-T 23573423-A-T P1_b3 ***
14624301-G-A 12512501-G-A ***
13480171-T-C 11324495-T-C ***
26210214-A-G 24064067-A-G P1_Y1 ***
3316353-T-A 3448312-T-A ***
3316951-T-C 3448910-T-C ***
4844572-A-G 4976531-A-G ***
4844580-A-G 4976539-A-G ***
4844607-C-T 4976566-C-T ***
5926872-A-G 6058831-A-G FTA48165 ***
6162207-C-G 6294166-C-G IR3_Dst ***
6483318-G-A 6615277-G-A ***
7996720-G-T 8128679-G-T ***
9216152-C-G 9378543-C-G ***
9345054-G-C 9507445-G-C ***
9345065-A-G 9507456-A-G ***
13110315-T-C 10599801-T-C ***
13311593-C-A 11155917-C-A ***
13311599-A-G 11155923-A-G ***
13368545-G-T 11212869-G-T ***
13377446-G-C 11221770-G-C ***
13460747-T-A 11305071-T-A ***
13726514-A-G 11570838-A-G DYZ17 ***
15350271-G-T 13238390-G-T ***
16379335-C-A 14267455-C-A ***
16381043-T-G 14269163-T-G ***
17835127-G-C 15723247-G-C ***
17898635-A-T 15786755-A-T ***
18464136-C-G 16352256-C-G P6_Dst ***
19035961-C-A 16924081-C-A ***
22226442-T-A 20064556-T-A DYZ19 ***
22248092-C-T 20086206-C-T DYZ19 ***
22248383-A-C 20086497-A-C DYZ19 ***
22252515-G-A 20090629-G-A DYZ19 ***
22265740-T-A 20103854-T-A DYZ19 ***
22268377-T-G 20106491-T-G DYZ19 ***
22282092-G-C 20120206-G-C DYZ19 ***
22289767-T-C 20127881-T-C DYZ19 ***
22309548-T-G 20147662-T-G DYZ19 ***
22324940-A-T 20163054-A-T DYZ19 ***
22337224-A-T 20175338-A-T DYZ19 ***
22337283-G-A 20175397-G-A DYZ19 ***
22349039-A-C 20187153-A-C DYZ19 ***
22355249-A-T 20193363-A-T DYZ19 ***
22421081-G-A 20259195-G-A DYZ19 ***
22456686-A-G 20294800-A-G DYZ19 ***
22491406-G-T 20329520-G-T DYZ19 ***
25020996-G-A 22874849-G-A g1 ***
25626814-G-C 23480667-G-C P1_b3 ***
25626815-T-G 23480668-T-G P1_b3 ***
25626818-T-A 23480671-T-A P1_b3 26×A***
27637124-A-G 25490977-A-G P1_Y2 ***
28112917-G-A 25966770-G-A P1_Y2 ***
28112918-C-T 25966771-C-T P1_Y2 ***
28804452-C-T 26658305-C-T ***
58833236-T-A 56757635-A-T ***
58841057-A-G 56749814-T-C ***
58843614-C-A 56747257-G-T ***
58843640-C-G 56747231-G-C ***
58846682-T-A 56744189-A-T ***
58863681-C-G 56727190-G-C ***
58872993-T-G 56717878-A-C ***
58873016-C-T 56717855-G-A ***
58874434-C-T 56716437-G-A ***
58874500-A-G 56716371-T-C ***
58898526-T-G 56692345-A-C ***
58898570-G-A 56692301-C-T ***
58904181-C-G 56686690-G-C ***
58906344-T-G 56684527-A-C ***
2651883-C-CTTTTT 2783842-C-CTTTTT 19×T***
3315351-C-CA 3447310-C-CA ***
3315398-AAAT-TCGG 3447357-AAAT-TCGG ***
4067369-T-TAAAAA 4199328-T-TAAAAA 26×A***
4346565-A-ATTTTTTTTTTCCTCCTTG 4478524-A-ATTTTTTTTTTCCTCCTTG 22×T***
5492439-C-CATTTT 5624398-C-CATTTT 18×T***
6162228-GA-AT 6294187-GA-AT IR3_Dst ***
9216146-GGAG-AGAT 9378537-GGAG-AGAT ***
9351179-TA-CC 9513570-TA-CC ***
13129514-TAGGTTC-GTGGTAA 10619000-TAGGTTC-GTGGTAA ***
13450132-TATTCC-T 11294456-TATTCC-T 8×ATTCC***
13470654-CGGTCT-TGGAGA 11314978-CGGTCT-TGGAGA ***
13488959-GCCCA-TCACT 11333283-GCCCA-TCACT ***
13532875-CAAA-C 11377199-CAAA-C 13×A***
13726487-CAA-AAG 11570811-CAA-AAG DYZ17 ***
13726500-G-GACGCT 11570824-G-GACGCT DYZ17 ***
13923530-CAAAAAAAAAAAAAAAAAAAAAAAAA-C 11802824-CAAAAAAAAAAAAAAAAAAAAAAAAA-C 29×A***
14324894-C-CTTTT 12204188-C-CTTTT 26×T***
14491216-TG-AA ***
16908451-T-TAAAAAAA 14796571-T-TAAAAAAA 21×A***
17214022-AGGAAATCATGTGATCTCACCTAGCTATACC-A 15102142-AGGAAATCATGTGATCTCACCTAGCTATACC-A ***
18354349-A-AAGAC 16242469-A-AAGAC P6_Prx ***
18965978-C-CCTGG 16854098-C-CCTGG ***
19449428-G-GAAAAAAAAAAAA 17337548-G-GAAAAAAAAAAAA 23×A***
21148589-C-CAAAAAAA 18986703-C-CAAAAAAA 30×A***
21464536-C-CAAAAAAA 19302650-C-CAAAAAAA 19×A***
21556919-C-CTTTTTTTT 19395033-C-CTTTTTTTT 23×T***
22236520-TGG-AGA 20074634-TGG-AGA DYZ19 ***
22263737-GTT-TTA 20101851-GTT-TTA DYZ19 ***
22263837-TTGCAT-GTGTCC 20101951-TTGCAT-GTGTCC DYZ19 ***
22480586-TTGAA-T 20318700-TTGAA-T DYZ19 ***
24283332-T-TAAAAAAAA 22137185-T-TAAAAAAAA P3_t1 27×A***
24425337-A-ATGCT 22279190-A-ATGCT ***
24472421-G-GTTTTTTT 22326274-G-GTTTTTTT 25×T***
26210183-AG-GA 24064036-AG-GA P1_Y1 ***
26210219-TG-CA 24064072-TG-CA P1_Y1 ***
26210233-GGGT-TGGG 24064086-GGGT-TGGG P1_Y1 ***
26526566-G-GGT 24380419-G-GGT P1_Y1 16×T***
28112910-TC-T 25966763-TC-T P1_Y2 ***
28620602-G-GT 26474455-G-GT ***
28814590-TC-GA 26668443-TC-GA ***
58874463-ACAGTCC-CCATACT 56716402-GGACTGT-AGTATGG ***

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
Manual22299247-G-C20137361-G-C13A 387C 496G 33T. The A reads and T reads look mostly misaligned.
Manual26394771-T-C24248624-T-C64T 53C and 3A which are clearly misaligned.