Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z193 > Z40483 > BY42688 > Y12178

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
82820
18354542-A-C 16242662-A-C P6_Prx A*
19673851-A-G 17561971-A-G P5_Prx A*
19926331-T-A 17814451-T-A P5_Prx A*
22314133-G-T 20152247-G-T ZS4172 DYZ19 A*
25997002-G-A 23850855-G-A P1_Y1 A*
26114712-T-G 23968565-T-G P1_Y1 A*
13660600-G-A 11504924-G-A BY17546 +
22474332-G-A 20312446-G-A BY43964 DYZ19 +
2880141-A-C 3012100-A-C BY57023 YY+
6930361-G-A 7062320-G-A BY62246 Y+
6940259-C-T 7072218-C-T BY62407 YY+
7096533-A-T 7228492-A-T BY63311 YY+
7096533-A-AG 7228492-A-AG +
7242257-C-T 7374216-C-T BY64110 Y+
7415466-A-G 7547425-A-G BY209253 YY+
7563035-A-C 7694994-A-C BY65936 YY+
7677380-T-A 7809339-T-A BY66770 YY+
8491196-C-T 8623155-C-T BY73348 YY+
8574900-G-C 8706859-G-C BY74164 YY+
9120305-A-G 9282696-A-G BY78270 Y+
13709797-T-C 11554121-T-C BY89393 +
14084957-G-A 11964251-G-A BY92895 YY+
14195559-A-G 12074853-A-G BY93733 Y+
14206196-C-T 12085490-C-T Y40345 YY+
14657351-C-G 12545416-C-G BY97019 YY+
15206346-G-A 13094432-G-A BY100179 YY+
15994526-G-A 13882646-G-A BY105381 YY+
16613769-C-A 14501889-C-A BY109010 YY+
16844942-G-T 14733062-G-T BY110530 YY+
17654502-TC-T 15542622-TC-T +
17693144-A-C 15581264-A-C BY116732 YY+
17781403-A-G 15669523-A-G BY117366 YY+
18068243-T-C 15956363-T-C BY119646 YY+
18575046-G-T 16463166-G-T BY122314 YY+
18698192-A-G 16586312-A-G BY123221 YY+
18915607-A-G 16803727-A-G BY124775 YY+
19381010-A-G 17269130-A-G BY128626 YY+
21140171-C-A 18978285-C-A BY130635 YY+
22160759-T-G 19998873-T-G BY138080 YY+
22784431-C-T 20622545-C-T BY140747 YY+
23383140-C-T 21221254-C-T BY144947 YY+
24369184-G-T 22223037-G-T BY149398 +
28506948-G-A 26360801-G-A M10409 Y+
14067-T-A +
15730-A-C +
19090-T-A +
21224779-ATT-A,AT 19062893-ATT-A,AT 19×T*
22458931-A-T 20297045-A-T DYZ19 *
22446109-G-T 20284223-G-T DYZ19 **
28818204-A-G 26672057-A-G **
15818488-G-A 13706608-G-A A1290Y11025 PH1831 **
3363333-TG-T 3495292-TG-T **
16494340-G-A 14382460-G-A **
13856306-TG-T 11735600-TG-T **
9215531-A-C 9377922-A-C **
9942885-C-A 10105276-C-A **
23259-G-T **
7127376-C-A 7259335-C-A **
2947894-C-A 3079853-C-A **
10884156-G-T **
5858468-C-A 5990427-C-A **
2960267-C-A 3092226-C-A **
2969933-C-A 3101892-C-A **
2970391-C-A 3102350-C-A **
3012679-C-A 3144638-C-A **
3547402-A-C 3679361-A-C **
3592922-C-A 3724881-C-A **
3598543-C-A 3730502-C-A **
3626318-A-T 3758277-A-T **
3626842-G-T 3758801-G-T **
3627315-A-C 3759274-A-C **
3684111-G-T 3816070-G-T **
4484843-G-T 4616802-G-T **
4497729-C-A 4629688-C-A **
4779981-T-G 4911940-T-G **
4868253-C-T 5000212-C-T **
4926925-T-C 5058884-T-C **
5112431-C-A 5244390-C-A **
5127607-C-A 5259566-C-A **
5186738-C-A 5318697-C-A A12971 **
5317007-T-C 5448966-T-C **
5331117-C-A 5463076-C-A **
5534803-C-A 5666762-C-A **
5858537-A-T 5990496-A-T **
5891644-G-T 6023603-G-T **
5927368-G-T 6059327-G-T **
5992722-T-C 6124681-T-C **
5992771-T-C 6124730-T-C **
6092429-C-A 6224388-C-A **
6112869-T-A 6244828-T-A **
6112870-G-T 6244829-G-T **
6233649-C-A 6365608-C-A IR3_Dst **
6233688-G-T 6365647-G-T IR3_Dst **
6302906-A-T 6434865-A-T IR3_Dst **
6302908-A-T 6434867-A-T IR3_Dst **
6302927-C-A 6434886-C-A IR3_Dst **
6302941-C-A 6434900-C-A IR3_Dst **
6314960-G-A 6446919-G-A IR3_Dst **
6347447-G-T 6479406-G-T **
6626854-G-T 6758813-G-T **
6648685-C-A 6780644-C-A **
6682161-C-A 6814120-C-A **
6903443-C-A 7035402-C-A **
6992465-T-C 7124424-T-C **
7029732-C-A 7161691-C-A **
7043111-G-T 7175070-G-T **
7045754-C-A 7177713-C-A **
7196480-G-A 7328439-G-A **
7221395-G-T 7353354-G-T **
7254021-G-T 7385980-G-T **
7381817-A-C 7513776-A-C **
7418543-C-A 7550502-C-A **
7753032-A-T 7884991-A-T **
7821334-C-A 7953293-C-A **
8181425-G-A 8313384-G-A **
8269639-A-C 8401598-A-C **
8737826-C-A 8869785-C-A **
8826591-G-T 8958550-G-T **
8976137-C-A 9138528-C-A **
9077080-G-T 9239471-G-T **
9542060-G-GC 9704451-G-GC IR3_Prx **
9700845-G-T 9863236-G-T IR3_Prx **
9940652-G-A 10103043-G-A **
9944043-G-T 10106434-G-T **
9997398-A-G 10159789-A-G **
9997849-A-G 10160240-A-G **
10652572-C-A **
10659587-C-A **
10747846-CTCCAT-C **
10754401-A-G **
10759830-C-CACTTA **
10764505-A-ATGCAT **
10782573-C-A **
10783851-T-G **
10783951-C-A **
10790494-C-G **
10792690-C-T **
10792734-A-G **
10792788-C-G **
10793676-A-C **
10801258-A-G **
10808944-A-G **
10808965-C-T **
10808972-C-G **
10808973-C-A **
10808986-T-G **
10822963-T-G **
10827919-C-A **
10834225-G-T **
10836676-T-G **
10840441-C-A **
10841599-T-G **
10852037-G-T FT434146 **
10870411-C-A **
10870420-T-C **
10870425-T-C **
10885048-A-C **
10885057-CTCTCG-C **
10888620-T-G **
10895537-G-T **
10900046-T-A **
10914803-G-T **
10924645-G-T **
10933440-C-A **
10940792-A-G FT437466 **
10948353-T-C **
10956025-T-C **
10956030-A-C **
10956039-C-A **
10956042-C-G **
10956044-C-G **
10956082-C-T **
10963244-A-T **
10973604-T-G **
10973611-C-A **
10975842-A-T **
10984062-G-A FT253005 **
10988269-A-C **
10994063-C-A **
10998028-A-C **
10998035-A-T **
10998048-C-G **
10998074-T-A **
10998075-T-A **
10998090-A-C **
10998086-TTCCATTCCATTCCAC-T **
10998352-A-C **
11000550-C-A **
11011671-C-G **
11020966-C-A **
11021204-C-A **
11025409-T-G **
11025414-C-A **
11025443-CCA-C **
11025450-ACTC-A **
11025456-C-T **
11025460-A-C **
11027237-G-T **
11027247-A-T **
11027261-C-A **
11029397-A-T **
11038164-C-A **
13198075-C-A 11042399-C-A **
13255202-C-A 11099526-C-A **
13273346-C-A 11117670-C-A **
13287693-T-C 11132017-T-C **
13287712-T-A 11132036-T-A **
13323788-C-A 11168112-C-A **
13349612-C-G 11193936-C-G **
13605800-C-A 11450124-C-A **
13605829-C-G 11450153-C-G **
13644023-T-G 11488347-T-G **
13710356-T-G 11554680-T-G **
13726130-C-G 11570454-C-G **
13726131-T-G 11570455-T-G **
11643664-G-A **
11645826-C-A **
11650621-G-A **
11650651-G-GGATTC **
11650671-A-G FT450200 **
11655109-A-T **
11669185-C-A **
13855675-AAATGG-A 11734969-AAATGG-A 4×AATGG**
13932433-C-A 11811727-C-A **
13939175-C-A 11818469-C-A **
13964004-C-A 11843298-C-A **
13974657-C-T 11853951-C-T FT83566 **
14195799-C-A 12075093-C-A **
14212242-C-A 12091536-C-A **
14228625-C-A 12107919-C-A **
14242048-T-G 12121342-T-G **
14284046-C-A 12163340-C-A **
14300931-C-A 12180225-C-A **
14385250-G-T 12264546-G-T FT83621 **
14420394-C-A 12299669-C-A **
14425042-A-C 12304317-A-C **
14458387-C-A 12337660-C-A **
14513264-C-A 12401469-C-A **
14562839-C-G 12451039-C-G **
14566987-T-A 12455187-T-A **
14567004-C-A 12455204-C-A **
14570143-C-A 12458343-C-A **
14598962-A-C 12487162-A-C **
14608123-C-A 12496325-C-A **
14622212-CAA-C 12510410-CAA-C 10×A**
14723858-C-A 12611926-C-A **
14724478-C-A 12612546-C-A **
14724499-C-A 12612567-C-A **
14761283-A-C 12649352-A-C **
14934450-C-A 12822515-C-A **
15060599-A-C 12948691-A-C **
15197394-A-C 13085480-A-C **
15369800-C-A 13257920-C-A **
15370156-A-G 13258276-A-G **
15403584-CATAAA-C 13291704-CATAAA-C 5×ATAAA**
15431622-A-G 13319742-A-G **
15636061-G-A 13524181-G-A FT175617 **
15712258-T-A 13600378-T-A **
15818475-C-T 13706595-C-T **
15818476-A-G 13706596-A-G **
15818489-C-T 13706609-C-T **
15818491-T-TC 13706611-T-TC **
15903999-A-C 13792119-A-C **
15995560-A-T 13883680-A-T **
16104449-C-A 13992569-C-A P8_Prx **
16162115-G-GATA 14050235-G-GATA P8_Dst **
16176631-C-A 14064751-C-A **
16322439-A-C 14210559-A-C **
16431058-C-A 14319178-C-A **
16598819-G-A 14486939-G-A **
16598825-AAAAAAT-A 14486945-AAAAAAT-A **
16598839-A-T 14486959-A-T **
16598842-G-T 14486962-G-T **
16738174-T-A 14626294-T-A **
16766281-T-G 14654401-T-G FT83811 **
16826553-C-A 14714673-C-A **
16842669-C-A 14730789-C-A **
16869197-A-T 14757317-A-T FT83815 **
16930419-G-T 14818539-G-T **
16931502-G-T 14819622-G-T **
16931898-G-T 14820018-G-T **
16987795-A-C 14875915-A-C **
17110346-C-A 14998466-C-A **
17125974-A-C 15014094-A-C **
17265219-G-A 15153339-G-A **
17323489-G-T 15211609-G-T **
17323492-G-T 15211612-G-T **
17323499-G-A 15211619-G-A **
17483157-A-T 15371277-A-T **
17513978-A-T 15402098-A-T **
17629697-T-G 15517817-T-G **
17702315-T-C 15590435-T-C **
17883724-C-A 15771844-C-A **
17965720-C-A 15853840-C-A **
18085646-TAGCAAGA-T 15973766-TAGCAAGA-T **
18102003-C-A 15990123-C-A **
18124263-A-C 16012383-A-C **
18173283-A-G 16061403-A-G **
18388324-C-A 16276444-C-A P6_Gap **
18406938-C-A 16295058-C-A P6_Gap **
18558178-C-A 16446298-C-A **
18577801-C-A 16465921-C-A **
18628068-C-A 16516188-C-A **
18873797-G-A 16761917-G-A FT83941 **
18902920-C-A 16791040-C-A **
19062146-G-T 16950266-G-T FT83955 **
19065936-G-T 16954056-G-T **
19111059-C-A 16999179-C-A **
19112605-A-G 17000725-A-G **
19122088-T-G 17010208-T-G **
19389613-A-G 17277733-A-G **
19537923-G-T 17426043-G-T **
19553451-C-A 17441571-C-A **
19557402-T-G 17445522-T-G **
19700654-A-T 17588774-A-T P5_Prx **
19700658-G-T 17588778-G-T P5_Prx **
19700671-G-T 17588791-G-T P5_Prx **
19727254-A-T 17615374-A-T P5_Prx **
19963797-CGTGT-C 17851917-CGTGT-C P5_Prx 8×GT**
20132305-G-T 18020425-G-T P5_Dst **
20582586-C-A 18420700-C-A P5_Dst **
20582608-C-A 18420722-C-A P5_Dst **
20592397-C-A 18430511-C-A P5_Dst **
20592427-G-T 18430541-G-T P5_Dst **
20592430-C-A 18430544-C-A P5_Dst **
20592448-C-G 18430562-C-G P5_Dst **
20592454-C-A 18430568-C-A P5_Dst **
20592467-A-T 18430581-A-T P5_Dst **
21057552-G-A 18895666-G-A **
21138692-C-A 18976806-C-A **
21163103-C-A 19001217-C-A **
21476507-C-A 19314621-C-A **
21698346-C-A 19536460-C-A **
21698729-C-A 19536843-C-A **
21807102-G-A 19645216-G-A **
21885852-A-C 19723966-A-C **
22133008-C-A 19971122-C-A **
22268163-A-G 20106277-A-G DYZ19 **
22330243-G-T 20168357-G-T DYZ19 **
22421853-G-T 20259967-G-T DYZ19 **
22662488-C-A 20500602-C-A **
22991762-T-A 20829876-T-A **
23138688-C-A 20976802-C-A **
23433619-T-A 21271733-T-A **
23483375-T-C 21321489-T-C **
23491084-C-A 21329198-C-A **
23716490-C-A 21554604-C-A **
24017024-A-T 21870877-A-T **
24017036-C-G 21870889-C-G **
24017043-G-T 21870896-G-T **
24095485-C-CGG 21949338-C-CGG P3_b1 **
24246042-A-C 22099895-A-C P3_b1 **
24300868-G-T 22154721-G-T P3_t1 **
25535037-G-T 23388890-G-T P1_gr1 **
25535044-A-T 23388897-A-T P1_gr1 **
25535046-A-T 23388899-A-T P1_gr1 **
25535065-G-T 23388918-G-T P1_gr1 **
26057922-A-T 23911775-A-T P1_Y1 **
26057922-AAG-A 23911775-AAG-A P1_Y1 **
26057930-A-C 23911783-A-C P1_Y1 **
26057941-T-A 23911794-T-A P1_Y1 **
26057945-T-A 23911798-T-A P1_Y1 **
26089203-A-C 23943056-A-C P1_Y1 **
26358745-C-A 24212598-C-A P1_Y1 **
27507474-G-T 25361327-G-T P1_Y2 **
27810325-G-T 25664178-G-T P1_Y2 **
27958080-AAAAC-A 25811933-AAAAC-A P1_Y2 **
28481048-C-A 26334901-C-A **
28496375-A-T 26350228-A-T **
28623443-C-A 26477296-C-A **
28726657-C-A 26580510-C-A **
28728632-A-T 26582485-A-T **
28804456-G-T 26658309-G-T **
28808650-G-T 26662503-G-T **
28818112-G-A 26671965-G-A **
28818131-A-T 26671984-A-T **
56750064-G-T **
56750076-A-T **
56842195-G-T **
56842800-T-G **
56845449-G-T **
6236-C-A **
10924359-C-A ***
4460578-G-A 4592537-G-A ***
8428972-T-A 8560931-T-A ***
9030080-G-T 9192471-G-T ***
9944082-G-C 10106473-G-C ***
10780213-T-A ***
10964041-C-A ***
10993048-C-T ***
10994426-C-G,T ***
11022064-TCTATC-T,TCCAT ***
11650400-T-TG ***
14774253-CTTTTTTTTTT-C 12662322-CTTTTTTTTTT-C 28×T***
14905352-ACTTTTTTTTATTGTAGTAAATCATGTAAT-A 12793419-ACTTTTTTTTATTGTAGTAAATCATGTAAT-A ***
15057738-ATT-A,ATTT 12945830-ATT-A,ATTT 18×T***
15585156-C-A 13473276-C-A ***
17004767-C-A 14892887-C-A ***
17029333-C-A 14917453-C-A ***
18080706-C-A 15968826-C-A ***
18965791-C-A 16853911-C-A ***
19486859-CTTTT-C,CTTTTT 17374979-CTTTT-C,CTTTTT 16×T***
21462392-G-GTA 19300506-G-GTA ***
21827460-C-A 19665574-C-A ***
22134122-G-T 19972236-G-T ***
22299241-G-A 20137355-G-A DYZ19 ***
22747691-C-A 20585805-C-A ***
27053571-G-T 24907424-G-T P1_r4 ***

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.