Simonetti

FTDNA: B3593
MDKA Birth: Italy 1655

Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > ZZ48 > ZZ56 > FGC10543 > FGC10530

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
B3593
21387421-G-A 19225535-G-A Y106312Y106312 YY+
6895758-C-T 7027717-C-T L1104 YY+
6895774-C-T 7027733-C-T Z36745 YY+
7349911-G-A 7481870-G-A BY64679 YY+
7389586-C-T 7521545-C-T BY64909 YY+
9161149-TA-T 9323540-TA-T +
13232081-A-G 11076405-A-G BY84763 +
13921979-G-A 11801273-G-A BY91918 YY+
14003774-A-G 11883068-A-G BY92232 YY+
14124859-C-A 12004153-C-A BY93171 YY+
14647544-A-G 12535609-A-G BY96966 YY+
15948431-T-C 13836551-T-C BY105071 YY+
16903640-C-T 14791760-C-T BY110983 YY+
17011948-AT-A 14900068-AT-A +
17195529-C-A 15083649-C-A BY112956 YY+
17414108-C-A 15302228-C-A BY114587 YY+
17790554-C-T 15678674-C-T BY117399 YY+
18267949-C-T 16156069-C-T BY121330 +
18396379-C-T 16284499-C-T BY121672 P6_Gap +
18659791-A-G 16547911-A-G BY122908 YY+
18871865-T-C 16759985-T-C BY124425 YY+
19443237-T-C 17331357-T-C BY129081 YY+
20682416-A-T 18520530-A-T BY212292 P4_Prx +
21038165-A-G 18876279-A-G BY130058 Y+
21784426-C-T 19622540-C-T BY135451 YY+
22442959-G-C 20281073-G-C DYZ19 +
22460444-A-C 20298558-A-C FT457671 DYZ19 +
22461222-G-T 20299336-G-T BY52824 DYZ19 +
22660260-C-T 20498374-C-T BY139836 YY+
22788557-T-G 20626671-T-G BY140780 YY+
22825798-C-T 20663912-C-T BY141067 YY+
23157045-A-G 20995159-A-G BY143467 Y+
23165035-G-C 21003149-G-C BY143567 Y+
23599564-G-A 21437678-G-A BY146619 YY+
24415735-TA-T 22269588-TA-T +
16340147-GAAAAAAAAAAAA-G 14228267-GAAAAAAAAAAAA-G 22×A+
7723912-G-A 7855871-G-A M1544 **
22468383-G-A 20306497-G-A DYZ19 **
6895780-A-T 7027739-A-T BY62039 **
6895781-A-G 7027740-A-G BY62040 **
6895782-C-T 7027741-C-T PR709 FT75666 **
6895789-T-C 7027748-T-C PR710 FT75667 **
6895791-A-G 7027750-A-G BY62041 **
7811662-A-G 7943621-A-G BY20688 **
7811664-G-A 7943623-G-A Y21410BY20689 **
7811668-A-G 7943627-A-G Y21410BY20690 **
13662038-A-AGGAAT 11506362-A-AGGAAT 9×GGAAT***
13451184-ACTCC-A,ATTCCA 11295508-ACTCC-A,ATTCCA ***
13809661-A-G 11688955-A-G ***
28792157-C-G 26646010-C-G ***
28792603-G-T 26646456-G-T ***
22314410-C-A 20152524-C-A BY217138 DYZ19 ***
3131457-A-ATCTCTTCTCT 3263416-A-ATCTCTTCTCT 14×TCTCT***
6356897-G-GGA 6488856-G-GGA 12×GA***
13143789-G-C,T 10633275-G-C,T ***
13293881-A-C 11138205-A-C BY85015 ***
13725085-T-A 11569409-T-A ***
19583323-C-T 17471443-C-T BY211848 P5_Prx ***
19617840-T-G 17505960-T-G P5_Prx ***
22248861-A-T 20086975-A-T DYZ19 ***
22256472-A-G 20094586-A-G DYZ19 ***
22268936-C-T 20107050-C-T DYZ19 ***
22278595-G-A 20116709-G-A DYZ19 ***
22279355-A-G 20117469-A-G DYZ19 ***
22285060-A-T 20123174-A-T DYZ19 ***
22306268-C-T 20144382-C-T DYZ19 ***
22428905-C-A 20267019-C-A DYZ19 ***
24168125-A-G 22021978-A-G P3_b1 ***
24818629-G-C 22672482-G-C P3_b2 ***
25009509-GA-G 22863362-GA-G g1 ***
25062733-A-G 22916586-A-G g1 ***
25079608-T-G 22933461-T-G g1 ***
25195786-C-T 23049639-C-T g1 ***
25246034-C-G 23099887-C-G P2_r1 ***
25290829-G-T 23144682-G-T P2_r1 ***
26082711-A-C 23936564-A-C P1_Y1 ***
26107958-A-G 23961811-A-G P1_Y1 ***
26182204-C-T 24036057-C-T P1_Y1 ***
26199726-T-C 24053579-T-C P1_Y1 ***
25942262-A-AT 23796115-A-AT P1_Y1 ***
26645980-T-TA 24499833-T-TA P1_g2 10×A***
20842517-GGAAAGAAA-G,GGAAAGAAAGAAA 18680631-GGAAAGAAA-G,GGAAAGAAAGAAA P4_Dst 14×GAAA***
22069001-CAA-C,CA 19907115-CAA-C,CA 14×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.