Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > S14469 > S23682 > FGC4220

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 STRBigY3
362987
3248684-C-G 3380643-C-G A+
4749989-T-C 4881948-T-C A*
6931670-T-C 7063629-T-C L1073 YYA*
59017118-C-T 56870971-C-T A*
20706668-G-A 18544782-G-A P4_Prx A*
6931552-A-G 7063511-A-G BY62266 YYA*
18369828-C-A 16257948-C-A P6_Prx A*
6343262-G-T 6475221-G-T A*
6931558-T-C 7063517-T-C BY62267 YYA*
19737956-G-C 17626076-G-C P5_Prx A*
25924669-T-C 23778522-T-C P1_Y1 A*
26009048-A-G 23862901-A-G P1_Y1 A*
26021462-A-G 23875315-A-G P1_Y1 A*
27838537-T-C 25692390-T-C P1_Y2 +
3344120-T-C 3476079-T-C FT183430 +
3575823-G-A 3707782-G-A FT183527 +
3676916-G-A 3808875-G-A FT183568 +
3988860-G-A 4120819-G-A FT183714 +
4548895-T-A 4680854-T-A 8×A+
5438658-AT-A 5570617-AT-A +
5493735-T-C 5625694-T-C FT184479 +
5697716-C-G 5829675-C-G FT184587 +
6939480-G-A 7071439-G-A FT185049 YY+
7713990-T-G 7845949-T-G FT185335 YY+
7841010-G-T 7972969-G-T YY+
8854151-T-C 8986110-T-C FT185824 YY+
8874226-G-A 9006185-G-A FT185838 Y+
9114204-TTTTTCTGAGA-T 9276595-TTTTTCTGAGA-T +
13824367-C-A 11703661-C-A BY54497 +
13956611-G-A 11835905-G-A FT186193 Y+
14021687-C-T 11900981-C-T FT186251 Y+
14248487-G-A 12127781-G-A FT186419 YY+
14584803-G-C 12473003-G-C FT186587 Y+
14884571-C-A 12772637-C-A FT186682 YY+
14987098-A-G 12875164-A-G FT186730 YY+
15975776-T-A 13863896-T-A FT187138 YY+
15975778-C-A 13863898-C-A FT187139 YY+
16608618-C-T 14496738-C-T FT187389 YY+
17108490-A-G 14996610-A-G FT187596 YY+
17214925-C-A 15103045-C-A FT187632 Y+
17794108-CCTCT-C 15682228-CCTCT-C +
18404561-G-T 16292681-G-T FT188134 P6_Gap +
18607057-T-G 16495177-T-G FT188181 YY+
18809932-A-G 16698052-A-G FT188272 YY+
19120570-A-G 17008690-A-G FT188428 YY+
21407905-T-C 19246019-T-C FT188786 YY+
21869937-G-A 19708051-G-A FT25735 YY+
22573355-T-C 20411469-T-C FT189117 YY+
23071406-A-G 20909520-A-G FT189303 YY+
23118013-C-A 20956127-C-A FT189323 YY+
23500152-A-G 21338266-A-G FT189465 YY+
23874803-G-A 21712917-G-A Y+
28689358-A-G 26543211-A-G FT189773 +
6231241-GCA-G 6363200-GCA-G IR3_Dst 18×CA*
4762829-C-T 4894788-C-T *
10666995-GTTCCATTCCATTCCA-G *
6931567-G-T 7063526-G-T BY62268 YY*
3388677-A-T 3520636-A-T *
6537371-T-C 6669330-T-C FTA14191 *
18280990-G-A 16169110-G-A FTA14895 P6_Prx *
22319489-G-T 20157603-G-T DYZ19 *
22319490-A-T 20157604-A-T DYZ19 *
28807017-G-A 26660870-G-A *
22661493-ATGTG-A 20499607-ATGTG-A 26×TG**
2888731-T-C 3020690-T-C ZS435ZS435 **
10949913-ACCATT-A **
21084312-C-CATAT 18922426-C-CATAT 11×AT**
16990155-C-A 14878275-C-A **
13461466-C-T 11305790-C-T FTA17195 **
14433359-GAGCTTCCTTCCTTGCAGGA-G 12312632-GAGCTTCCTTCCTTGCAGGA-G **
13455766-T-C 11300090-T-C **
13223635-A-T 11067959-A-T **
13401947-G-T 11246271-G-T **
13625936-G-T 11470260-G-T **
13643267-AATG-A 11487591-AATG-A **
13886965-T-A 11766259-T-A FTA17188 **
14630643-T-C 12518712-T-C **
19811014-C-T 17699134-C-T P5_Prx **
21584741-C-A 19422855-C-A FTA17189 **
22441133-G-A 20279247-G-A DYZ19 **
22463462-T-G 20301576-T-G FTA17196 DYZ19 **
23332902-T-C 21171016-T-C **
26138433-A-AC 23992286-A-AC P1_Y1 **
28570677-G-A 26424530-G-A FTA17187 **
25111-T-C **
5787075-T-TTA 5919034-T-TTA 8×TA***
4748808-T-A 4880767-T-A ***
21412246-C-A 19250360-C-A ***
16904720-AAG-A 14792840-AAG-A ***
16134295-CTAAA-C 14022415-CTAAA-C FGC29516 10×TAAA***
22231157-C-T 20069271-C-T BY10602 DYZ19 ***
10924332-CACTCG-C ***
3640682-CTCCTTCCT-C,CTCCT 3772641-CTCCTTCCT-C,CTCCT 14×TCCT***
5905890-CAAAAAA-C 6037849-CAAAAAA-C 27×A***
18138266-T-C 16026386-T-C ***
7282159-CTTTTTT-C 7414118-CTTTTTT-C 22×T***
6931666-A-G 7063625-A-G FTB9404 ***
28797774-A-C 26651627-A-C ***
4393795-C-T 4525754-C-T ***
5887228-CAAAAA-C 6019187-CAAAAA-C 18×A***
22127975-CTTTT-C,CTTT 19966089-CTTTT-C,CTTT 20×T***
13455786-G-C 11300110-G-C ***
4752101-ACT-A 4884060-ACT-A ***
13455824-C-T 11300148-C-T ***
7114546-A-G 7246505-A-G ***
13466407-G-A 11310731-G-A ***
13963824-ATTTTTTTTTTTTTTTTTTTTTTTTTT-A,ATTT 11843118-ATTTTTTTTTTTTTTTTTTTTTTTTTT-A,ATTT 49×T***
16394722-C-T 14282842-C-T ***
17414341-T-C 15302461-T-C ***
22508223-T-C 20346337-T-C DYZ19 ***
23225893-A-G 21064007-A-G ***
28815859-C-A 26669712-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.