Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150 > A6454 > Y22291 > Y22312

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
B340912
23176799-A-AGAAG 21014913-A-AGAAG 11×GAAGA*
26029860-C-T 23883713-C-T P1_Y1 A*
26186632-A-AT 24040485-A-AT P1_Y1 9×TA*
28816771-T-A 26670624-T-A A*
28817203-G-T 26671056-G-T A*
28817311-G-T 26671164-G-T A*
18292133-T-C 16180253-T-C P6_Prx A*
19768139-T-A 17656259-T-A P5_Prx A*
19874473-C-T 17762593-C-T P5_Prx A*
19943422-G-T 17831542-G-T P5_Prx A*
20744131-C-T 18582245-C-T P4_Prx A*
14151026-G-A 12030320-G-A BY187030 YY+
22483301-G-C 20321415-G-C FT460408 DYZ19 +
6651044-C-G 6783003-C-G BY186274 YY+
8149943-C-T 8281902-C-T BY186587 YY+
8499290-T-G 8631249-T-G BY186678 YY+
8538840-CA-C 8670799-CA-C +
8623058-G-C 8755017-G-C BY186725 YY+
8777034-T-A 8908993-T-A BY186760 YY+
13203366-A-T 11047690-A-T BY209912 +
13276887-T-C 11121211-T-C BY210103 +
13663646-G-A 11507970-G-A BY87524 +
13844239-C-T 11723533-C-T +
14246534-A-C 12125828-A-C YY+
15022678-T-G 12910767-T-G BY187200 YY+
15633791-T-C 13521911-T-C BY187310 YY+
15720002-G-A 13608122-G-A YY+
15720003-AG-A 13608123-AG-A +
17101401-G-C 14989521-G-C BY187565 YY+
17657652-A-T 15545772-A-T BY187679 YY+
17793698-G-A 15681818-G-A BY187719 YY+
17892543-C-T 15780663-C-T BY187738 YY+
18108121-T-C 15996241-T-C BY187797 YY+
18670378-G-A 16558498-G-A YY+
21718419-C-G 19556533-C-G BY188225 YY+
21867420-G-A 19705534-G-A BY188264 YY+
22298045-G-A 20136159-G-A FT455357 DYZ19 +
22512373-T-A 20350487-T-A BY225853 DYZ19 +
22586769-T-C 20424883-T-C BY188438 YY+
22947485-G-A 20785599-G-A BY188514 YY+
22432375-G-T 20270489-G-T DYZ19 *
22277419-G-A 20115533-G-A DYZ19 *
7099267-C-A 7231226-C-A **
27232111-T-TTC 25085964-T-TTC P1_g3 18×TTTC**
18919893-C-A 16808013-C-A **
13832943-C-A 11712237-C-A **
2948624-G-GTA 3080583-G-GTA **
18443035-T-C 16331155-T-C P6_Dst **
6934714-G-GTT 7066673-G-GTT 15×T**
58973518-C-T 56827371-C-T **
10756575-A-G **
10756586-T-C **
10756593-CCATTA-C **
10690854-T-A **
10690858-TA-T **
11001497-G-A **
11001506-C-A **
20434792-A-T 18272906-A-T P5_Dst **
10759934-A-G **
10759943-C-T FGC77730 **
10759949-C-G **
10922364-T-C **
10992237-A-T **
21462568-C-A 19300682-C-A **
7725623-C-A 7857582-C-A **
19377130-TGGAG-T 17265250-TGGAG-T 4×GGAG**
10965560-A-T BY84050 **
10965579-C-T **
10754960-T-G **
56826133-G-C **
56826142-C-A **
56826145-C-A **
56826148-G-C **
56826158-C-G **
10868763-C-T **
21267607-C-A 19105721-C-A **
10987836-T-A **
13446672-C-CGCCAT 11290996-C-CGCCAT 5×TCCAT**
21565977-C-A 19404091-C-A **
5873773-C-A 6005732-C-A **
10776516-C-CTGTTCCCCTG **
10776531-C-T **
15683796-C-A 13571916-C-A **
27810384-G-T 25664237-G-T P1_Y2 **
28816048-G-T 26669901-G-T **
23808045-C-A 21646159-C-A **
26834621-A-G 24688474-A-G P1_g2 **
26834643-GAA-G 24688496-GAA-G P1_g2 **
18794282-C-A 16682402-C-A **
10682539-T-A **
10682542-C-T **
16905870-CAAAAA-C 14793990-CAAAAA-C 25×A**
28812344-G-T 26666197-G-T **
4863465-G-T 4995424-G-T **
5059678-A-AC 5191637-A-AC **
25280361-G-T 23134214-G-T P2_r1 **
25280364-C-A 23134217-C-A P2_r1 **
14413137-T-C 12292434-T-C **
16541012-C-A 14429132-C-A **
56835477-T-C **
13847234-A-T 11726528-A-T 4×AATGG**
27232109-T-TTC 25085962-T-TTC P1_g3 **
6092231-C-A 6224190-C-A **
4179020-TAAAA-T 4310979-TAAAA-T 17×A**
7409696-G-C 7541655-G-C **
10992227-G-A **
25280340-A-T 23134193-A-T P2_r1 **
7437513-C-A 7569472-C-A **
19479085-C-A 17367205-C-A **
20770482-TC-T 18608596-TC-T P4_Prx **
10892543-C-CAATA **
16038157-T-A 13926277-T-A **
16038154-G-A 13926274-G-A FT42150 **
17032662-C-A 14920782-C-A **
17143891-ATTTTTTT-A 15032011-ATTTTTTT-A 35×T**
13306121-C-A 11150445-C-A **
2772582-C-A 2904541-C-A **
5495200-AT-A 5627159-AT-A **
13462185-G-A 11306509-G-A **
13462199-G-C 11306523-G-C **
13462222-T-C 11306546-T-C **
13462223-G-A 11306547-G-A F18165 **
13462241-A-T 11306565-A-T **
14786629-T-C 12674699-T-C **
10922400-A-C **
10939549-G-T **
13213859-ATGGC-A 11058183-ATGGC-A **
7385863-C-A 7517822-C-A **
8751542-C-A 8883501-C-A Y87904 **
3550571-A-C 3682530-A-C **
20241132-A-C 18079246-A-C P5_Dst **
56685550-G-T **
10992223-C-G **
10964247-C-A **
10682516-C-T **
10666978-C-A **
24475359-C-A 22329212-C-A **
18685487-C-A 16573607-C-A **
16053427-C-A 13941547-C-A **
10682499-T-G **
10682501-C-CTACTCCACTCCACTA **
10682532-C-CACTAA **
28711936-G-A 26565789-G-A **
17993897-C-T 15882017-C-T P7_Prx **
21754457-G-T **
4757505-C-A 4889464-C-A **
14816859-C-A 12704930-C-A **
2759501-C-A 2891460-C-A **
10763136-C-G **
10958526-C-A **
10993024-C-A **
20984872-C-A 18822986-C-A P4_Dst **
16227999-G-A 14116119-G-A **
14413128-T-C 12292425-T-C **
10763137-A-G **
4970080-G-T 5102039-G-T **
19270537-C-CAA 17158657-C-CAA 21×A**
7428250-C-A 7560209-C-A **
10825305-C-A **
16018213-C-A 13906333-C-A **
23786357-C-A 21624471-C-A **
15863073-G-A 13751193-G-A **
56827182-G-A **
28537165-C-A 26391018-C-A **
15641869-C-A 13529989-C-A **
13287707-T-C 11132031-T-C **
28812399-G-T 26666252-G-T **
13484000-C-A 11328324-C-A **
10958579-T-C **
2986114-C-A 3118073-C-A **
22885858-C-A 20723972-C-A **
13460998-C-T 11305322-C-T **
10789415-C-T **
24509340-C-A 22363193-C-A **
17821871-C-A 15709991-C-A **
9435066-C-A 9597457-C-A **
15918451-C-A 13806571-C-A **
13506992-T-C 11351316-T-C **
7199351-T-G 7331310-T-G **
27507495-G-T 25361348-G-T P1_Y2 **
25966277-G-T 23820130-G-T P1_Y1 **
6734493-C-A 6866452-C-A **
8981168-G-T 9143559-G-T **
9482121-C-A 9644512-C-A **
9907420-G-T 10069811-G-T **
15730522-C-A 13618642-C-A **
22100923-C-T 19939037-C-T **
10992244-T-G **
28783667-C-A 26637520-C-A **
56850019-G-T **
2884747-C-A 3016706-C-A **
10657302-T-G **
14292852-C-A 12172146-C-A **
2693180-C-A 2825139-C-A **
2794953-GT-G 2926912-GT-G **
2979578-G-T 3111537-G-T **
3328041-A-G 3460000-A-G **
3696273-A-G 3828232-A-G **
3865852-G-A 3997811-G-A **
4113737-T-C 4245696-T-C **
4270806-A-T 4402765-A-T **
4537676-C-T 4669635-C-T **
4874800-C-A 5006759-C-A **
5368286-A-G 5500245-A-G **
5453380-G-T 5585339-G-T FT245115 **
5621231-T-C 5753190-T-C **
5659315-C-A 5791274-C-A **
6363606-G-A 6495565-G-A FT66906 **
6401165-C-A 6533124-C-A **
6505579-A-G 6637538-A-G **
6935453-G-T 7067412-G-T **
6978509-C-A 7110468-C-A **
7085218-T-A 7217177-T-A **
7132918-C-T 7264877-C-T **
7154644-A-G 7286603-A-G **
7167131-C-A 7299090-C-A **
7182947-C-T 7314906-C-T **
7534643-CAAAAAAAA-C 7666602-CAAAAAAAA-C 17×A**
7625171-A-C 7757130-A-C **
7721489-C-A 7853448-C-A **
7995998-G-C 8127957-G-C **
8827356-C-A 8959315-C-A **
8987936-A-G 9150327-A-G **
8988066-A-T 9150457-A-T **
9088829-C-A 9251220-C-A FT53304 **
9602674-AGTC-A 9765065-AGTC-A IR3_Prx **
9618257-G-T 9780648-G-T IR3_Prx **
9700756-G-T 9863147-G-T IR3_Prx **
9700760-G-T 9863151-G-T IR3_Prx **
9761205-G-A 9923596-G-A **
10015807-G-A 10178198-G-A **
10057921-C-A 10220312-C-A **
10652361-C-A **
10653555-A-G **
10657348-TC-T **
10669182-T-A **
10685553-A-G **
10827704-G-T **
10870737-C-A **
10905949-G-A **
10934205-C-A **
10947280-G-T **
10949808-C-A FT437821 **
10958556-C-CACTCT **
10958590-C-A **
10985158-C-T **
10992243-T-G **
13208067-C-T 11052391-C-T **
13289978-C-A 11134302-C-A **
13315698-C-A 11160022-C-A **
13316103-G-A 11160427-G-A **
13319202-C-T 11163526-C-T **
13447033-C-A 11291357-C-A **
13458761-T-G 11303085-T-G **
13462251-T-C 11306575-T-C **
13488968-C-G 11333292-C-G **
13506983-T-C 11351307-T-C **
13506990-T-C 11351314-T-C **
13506996-T-C 11351320-T-C **
13725081-G-A 11569405-G-A **
11643726-TTGG-T **
13817823-G-A 11697117-G-A **
13868742-A-G 11748036-A-G **
13963423-G-A 11842717-G-A **
14007877-C-A 11887171-C-A **
14021139-A-G 11900433-A-G **
14227532-G-A 12106826-G-A **
14392124-G-A 12271420-G-A **
14413129-G-A 12292426-G-A **
14413134-A-T 12292431-A-T **
14557834-G-A 12446035-G-A **
14946667-C-A 12834741-C-A **
14951623-C-A 12839697-C-A **
15001447-C-A 12889532-C-A **
15126422-T-C 13014509-T-C **
15126459-A-T 13014546-A-T **
15146362-G-T 13034449-G-T **
15232266-G-T 13120352-G-T **
15360714-C-A 13248834-C-A **
15483933-A-G 13372053-A-G **
15579466-T-C 13467586-T-C **
15743361-T-C 13631481-T-C FGC54155 **
15744296-C-A 13632416-C-A **
15774391-G-T 13662511-G-T FTB71775 **
15774508-G-T 13662628-G-T **
15793062-C-A 13681182-C-A **
15793322-C-A 13681442-C-A **
15863110-G-A 13751230-G-A **
15864318-C-A 13752438-C-A **
16093788-C-T 13981908-C-T **
17367607-G-A 15255727-G-A **
18060305-C-CAT 15948425-C-CAT **
18089057-G-A 15977177-G-A **
18174980-A-G 16063100-A-G FTB29538 **
18443039-TC-T 16331159-TC-T P6_Dst **
18558215-C-A 16446335-C-A **
18837486-C-A 16725606-C-A **
18904726-G-A 16792846-G-A **
19253080-C-T 17141200-C-T **
19439648-A-G 17327768-A-G **
19522620-C-T 17410740-C-T **
19542312-C-A 17430432-C-A **
21691999-C-A 19530113-C-A **
22236841-C-T 20074955-C-T DYZ19 **
22935159-C-A 20773273-C-A **
23063268-C-A 20901382-C-A **
23274004-AAAAATAAATTTATGTAAAT-A 21112118-AAAAATAAATTTATGTAAAT-A **
23372610-G-T 21210724-G-T **
23412070-T-C 21250184-T-C **
23418381-C-A 21256495-C-A **
23745242-G-T 21583356-G-T **
24220843-G-C 22074696-G-C P3_b1 **
24468913-T-C 22322766-T-C **
24583393-G-T 22437246-G-T P3_t2 **
24870023-C-T 22723876-C-T IR1_R **
25280341-G-T 23134194-G-T P2_r1 **
26030979-A-AG 23884832-A-AG P1_Y1 **
27641491-C-A 25495344-C-A P1_Y2 **
28627969-A-T 26481822-A-T **
28812418-G-T 26666271-G-T **
56844883-C-T **
58973913-G-T 56827766-G-T ***
21992963-TAAAAAAA-T 19831077-TAAAAAAA-T 23×A***
16431229-CAAAA-C 14319349-CAAAA-C 15×A***
17503490-C-A 15391610-C-A ***
56833457-C-A ***
7098902-TAA-T,TAAA 7230861-TAA-T,TAAA 16×A***
3759088-C-A 3891047-C-A ***
7762187-CA-C,CAA 7894146-CA-C,CAA 13×A***
56833428-T-C ***
15479591-C-A 13367711-C-A ***
19528904-C-A 17417024-C-A ***
14761100-TGATAGATA-T,TGATA 12649169-TGATAGATA-T,TGATA 12×GATA***
4444533-G-T 4576492-G-T YFS2910483 ***
17928724-C-A 15816844-C-A ***
20816923-TCA-T 18655037-TCA-T P4_Gap ***
19479737-G-A 17367857-G-A ***
15928371-CT-C,C 13816491-CT-C,C 26×T***
22849491-CTTTTTT-C,CTTTTT 20687605-CTTTTTT-C,CTTTTT 20×T***
16213380-C-A 14101500-C-A ***
2900975-C-A 3032934-C-A ***
4244710-T-C 4376669-T-C ***
7221818-C-A 7353777-C-A ***
7334770-C-A 7466729-C-A ***
7363534-G-A 7495493-G-A ***
7364383-T-G 7496342-T-G ***
7897437-G-A 8029396-G-A ***
8016693-C-A 8148652-C-A ***
13459345-C-A 11303669-C-A ***
13468721-C-A 11313045-C-A ***
13815049-A-G 11694343-A-G ***
13855431-C-T 11734725-C-T ***
14910798-ATTTT-A,ATT 12798865-ATTTT-A,ATT 21×T***
15200238-A-G 13088324-A-G ***
15361488-T-C 13249608-T-C ***
15744103-C-A 13632223-C-A ***
16736754-C-A 14624874-C-A ***
17118966-C-A 15007086-C-A ***
17203585-C-T 15091705-C-T ***
17596638-C-A 15484758-C-A ***
18685573-C-A 16573693-C-A ***
21086136-TAAA-T,TAAAA 18924250-TAAA-T,TAAAA 24×A***
21545881-T-C 19383995-T-C ***
21748642-C-A 19586756-C-A ***
23142663-C-A 20980777-C-A ***
23417376-C-A 21255490-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.