Colwell

BigY3: 897004
MDKA Birth: United States > Pennsylvania

Tree Position

R-M269 > L23 > L51 > Z2118 > ~18571755-G-A > Y5145 > Exact position not yet finalized.

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
897004
9655505-C-T 9817896-C-T IR3_Prx A+
5636280-C-T 5768239-C-T FTB20114 A*
58977922-G-A 56831775-G-A A*
4334650-T-TA 4466609-T-TA 11×AA*
10893769-C-CTCCAT A*
13488647-C-A 11332971-C-A A*
18379868-G-GT 16267988-G-GT P6_Prx 17×TA*
3283400-C-CT 3415359-C-CT 10×TA*
28817708-G-T 26671561-G-T A*
58977496-G-A 56831349-G-A A*
20432863-T-TACAC 18270977-T-TACAC P5_Dst 13×ACA*
56834473-C-T A*
13449968-C-T 11294292-C-T A*
56830837-C-CTCCAT A*
56832709-C-T A*
13448406-C-G 11292730-C-G A*
56831151-C-T A*
13470463-G-A 11314787-G-A A*
13448408-G-C 11292732-G-C A*
56836468-C-T A*
5857964-C-T 5989923-C-T A*
18102474-C-CT 15990594-C-CT 9×TA*
6201549-C-T 6333508-C-T IR3_Dst A*
6224877-G-A 6356836-G-A IR3_Dst A*
13451662-T-G 11295986-T-G A*
20059546-C-T 17947666-C-T P5_Prx A*
20707506-A-G 18545620-A-G P4_Prx A*
22312637-C-A 20150751-C-A DYZ19 A*
24289967-G-A 22143820-G-A P3_t1 A*
25942703-A-G 23796556-A-G P1_Y1 A*
26355980-G-A 24209833-G-A P1_Y1 A*
26392780-C-T 24246633-C-T P1_Y1 A*
16940903-A-C 14829023-A-C CTS6498 YY+
15166525-C-T 13054611-C-T ZS837 YY+
22074020-C-A 19912134-C-A YY+
28661927-C-A 26515780-C-A FT48443 Y+
7043115-A-G 7175074-A-G FT47492 Y+
22700501-C-CT 20538615-C-CT 10×T+
16028265-G-A 13916385-G-A BY203398 Y+
3086256-G-A 3218215-G-A FT47084 +
3310795-T-A 3442754-T-A FT47105 +
3659767-T-C 3791726-T-C FT47141 +
4395499-A-G 4527458-A-G +
4471765-C-T 4603724-C-T FT341491 +
4592104-T-G 4724063-T-G +
4835918-T-A 4967877-T-A FT341664 +
6438339-C-G 6570298-C-G FT47443 +
7283770-T-G 7415729-T-G YY+
8683478-G-A 8815437-G-A YY+
9051933-CTAA-C 9214324-CTAA-C +
11006306-C-T FT59712 +
13214407-G-A 11058731-G-A +
12377789-G-A FT47803 +
14512082-T-A 12400287-T-A FT47806 Y+
16175022-A-T 14063142-A-T Y+
16564931-A-G 14453051-A-G YY+
16644342-T-C 14532462-T-C FT336949 YY+
16829741-C-G 14717861-C-G FT337064 YY+
16870183-G-C 14758303-G-C YY+
17212732-T-C 15100852-T-C YY+
17533519-G-A 15421639-G-A YY+
17658989-C-T 15547109-C-T YY+
17659879-A-G 15547999-A-G YY+
18184357-T-C 16072477-T-C FT48113 Y+
19379735-C-T 17267855-C-T FT338695 YY+
19501045-T-C 17389165-T-C YY+
21031379-G-T 18869493-G-T BY39443 P4_Dst Y+
22470724-AG-A 20308838-AG-A DYZ19 +
22606481-T-A 20444595-T-A YY+
22944621-ACT-A 20782735-ACT-A +
23119635-A-G 20957749-A-G YY+
24447605-C-A 22301458-C-A FT340611 Y+
28482080-G-C 26335933-G-C FT340645 +
16809372-T-TGATA 14697492-T-TGATA 11×GATA*
5573188-T-C 5705147-T-C *
5577436-T-G 5709395-T-G *
5608174-CACAT-C 5740133-CACAT-C *
16408114-C-CCA 14296234-C-CCA 19×CA*
22302793-G-C 20140907-G-C DYZ19 *
17996127-T-TACAC 15884247-T-TACAC P7_Gap 20×AC*
22278815-A-G 20116929-A-G DYZ19 *
10926682-G-GCATTC *
10660117-T-TTTCCA *
19746883-T-TTGTG 17635003-T-TTGTG P5_Prx 13×TG*
10972405-CCTCCA-C *
13489852-G-T 11334176-G-T *
5631567-C-T 5763526-C-T *
22255602-C-G 20093716-C-G DYZ19 *
28808562-G-T 26662415-G-T **
28808553-C-T 26662406-C-T **
17515861-G-GA 15403981-G-GA 11×A**
5818143-CAGAT-C 5950102-CAGAT-C 11×AGAT**
18028704-CATACA-C 15916824-CATACA-C 12×ATACA**
18344338-AT-A 16232458-AT-A P6_Prx 10×T**
2824726-A-AC 2956685-A-AC 10×C***
9147153-A-G 9309544-A-G BY876 **
9147152-T-C 9309543-T-C BY875 **
13260592-CTT-C 11104916-CTT-C 14×T**
13868409-CGGAATGGAATGGAAT-C 11747703-CGGAATGGAATGGAAT-C 10×GGAAT**
3873186-CA-C 4005145-CA-C 15×A**
13468180-C-T 11312504-C-T **
4459991-T-TTA 4591950-T-TTA 9×TA**
23025229-CAA-C 20863343-CAA-C 29×A**
13476195-G-C 11320519-G-C **
28049621-GT-G 25903474-GT-G P1_Y2 **
23802082-CAA-C 21640196-CAA-C 24×A**
17071362-T-G 14959482-T-G FT413866 **
6989107-T-TAA 7121066-T-TAA 23×A**
13453122-T-TAAAA 11297446-T-TAAAA **
3466432-AT-A 3598391-AT-A 10×T**
18040518-C-T 15928638-C-T **
6305913-C-CAAA 6437872-C-CAAA IR3_Dst 14×A**
20426054-CAA-C 18264168-CAA-C P5_Dst 26×A**
13453124-C-CA 11297448-C-CA **
13453158-C-T 11297482-C-T **
20840711-C-CA 18678825-C-CA P4_Gap 8×A**
14130193-G-A 12009487-G-A **
20943439-G-GA 18781553-G-GA P4_Dst 9×A**
13469352-G-A 11313676-G-A **
2964477-G-A 3096436-G-A FT47075 **
3434045-T-C 3566004-T-C **
3785208-G-T 3917167-G-T FT81250 **
3912277-A-C 4044236-A-C FT81273 **
3925968-T-C 4057927-T-C **
4203323-G-C 4335282-G-C FT47201 **
4319176-C-G 4451135-C-G FT47213 **
4698301-G-GAA 4830260-G-GAA 10×A**
4730839-T-C 4862798-T-C **
4742525-A-G 4874484-A-G **
5428892-G-T 5560851-G-T **
5673864-CT-C 5805823-CT-C **
5789842-A-G 5921801-A-G **
6530728-A-T 6662687-A-T FT110794 **
9402543-G-T 9564934-G-T **
13340827-T-G 11185151-T-G **
13408110-C-A 11252434-C-A FT59711 **
13607771-T-C 11452095-T-C **
13951434-T-G 11830728-T-G **
14849049-C-T 12737115-C-T **
15130560-T-C 13018647-T-C **
15689966-A-G 13578086-A-G **
16383214-C-G 14271334-C-G **
16503052-CCT-C 14391172-CCT-C **
17051367-G-A 14939487-G-A **
18487810-A-AT 16375930-A-AT P6_Dst **
18819603-A-T 16707723-A-T **
21055466-T-C 18893580-T-C **
22441291-T-C 20279405-T-C BY177773 DYZ19 **
22872773-G-T 20710887-G-T **
24880276-C-T 22734129-C-T BY205486 g1 **
26078953-A-G 23932806-A-G P1_Y1 **
14875592-G-GT 12763662-G-GT 28×T***
22868285-T-TA 20706399-T-TA 27×A***
13489974-A-T 11334298-A-T ***
16545414-CAA-C 14433534-CAA-C 24×A***
13452332-GATTCCATTCC-G 11296656-GATTCCATTCC-G 12×ATTCC***
15436097-GT-G 13324217-GT-G 13×T***
17936932-CAA-C 15825052-CAA-C 14×A***
18841278-GTAAA-G 16729398-GTAAA-G 8×TAAA***
21663262-T-TA 19501376-T-TA 15×A***
13484053-C-T 11328377-C-T ***
21412918-G-GT 19251032-G-GT 9×T***
13474011-A-T 11318335-A-T ***
19479688-A-AGTGT 17367808-A-AGTGT 20×GT***
5636308-C-G 5768267-C-G ***
5639518-G-A 5771477-G-A ***
20804004-T-TTG 18642118-T-TTG P4_Gap 19×TG***
21182397-CTTTTT-C 19020511-CTTTTT-C 20×T***
13489965-A-T 11334289-A-T ***
16767153-C-CT 14655273-C-CT 17×T***
14488773-CAAA-C 12368042-CAAA-C 16×A***
23193369-G-GA 21031483-G-GA 10×A***
18679925-CAAAA-C 16568045-CAAAA-C 25×A***
22768348-TAA-T 20606462-TAA-T 17×A***
15683628-C-CA 13571748-C-CA 24×A***
8835383-AT-A 8967342-AT-A 10×T***
5757308-CAAAA-C 5889267-CAAAA-C 18×A***
10744254-T-C ***
10776152-C-T ***
13489077-T-C,G 11333401-T-C,G ***
18255888-TAAAAA-T 16144008-TAAAAA-T 22×A***
10776055-C-G ***
11036141-ATTCAC-A ***
56828129-T-A,C ***
56849110-G-A ***
17187634-CAAA-C 15075754-CAAA-C 15×A***
15332096-G-GA 13220214-G-GA 10×A***
22995376-GTT-G 20833490-GTT-G 21×T***
13457709-T-TC 11302033-T-TC ***
6869659-CA-C 7001618-CA-C 10×A***
56876445-G-GA 13×A***
13470446-T-G 11314770-T-G ***
17256854-CTTT-C 15144974-CTTT-C 14×T***
13477320-C-A 11321644-C-A ***
21934980-A-ATT 19773094-A-ATT 17×T***
14604612-G-T 12492814-G-T ***
8723746-G-GAA 8855705-G-GAA 14×A***
22517592-G-GA 20355706-G-GA 9×A***
13919208-CAAAAAA-C 11798502-CAAAAAA-C 17×A***
3344725-AT-A 3476684-AT-A 10×T***
6467392-CTTT-C 6599351-CTTT-C 15×T***
13341547-G-T 11185871-G-T ***
5059196-C-G 5191155-C-G ***
6928381-C-CT 7060340-C-CT 10×T***
10776137-CTCAAT-C,CTCCAT ***
3174374-CTTT-C 3306333-CTTT-C 18×T***
21118158-T-TACAC 18956272-T-TACAC 22×AC***
14551680-C-CAA 12439881-C-CAA 10×A***
13477282-G-T 11321606-G-T ***
21502782-CT-C,CTT 19340896-CT-C,CTT 16×T***
17797622-G-GA 15685742-G-GA 10×A***
15718003-A-T 13606123-A-T ***
5062473-CAAAAA-C 5194432-CAAAAA-C 21×A***
4537586-CTTT-C,CTT 4669545-CTTT-C,CTT 21×T***
6539997-CAA-C 6671956-CAA-C 13×A***
14839563-G-GA 12727630-G-GA 9×A***
5642431-GA-G 5774390-GA-G 10×A***
4880709-GTT-G,GTTT 5012668-GTT-G,GTTT 22×T***
16627557-A-G 14515677-A-G ***
2773646-T-G 2905605-T-G ***
2773651-T-C 2905610-T-C ***
2894607-C-CT 3026566-C-CT ***
3113110-A-G 3245069-A-G ***
3381482-T-C 3513441-T-C ***
3403197-CCA-C 3535156-CCA-C ***
3405502-GA-G 3537461-GA-G ***
3520196-T-C 3652155-T-C ***
3567571-C-CCT 3699530-C-CCT 10×CT***
3594051-TA-T 3726010-TA-T ***
4037447-A-G 4169406-A-G ***
4532995-T-C 4664954-T-C ***
4973442-T-C 5105401-T-C ***
5093018-A-G 5224977-A-G ***
5219426-A-G 5351385-A-G ***
5385942-T-C 5517901-T-C ***
5398485-T-A 5530444-T-A ***
6012930-A-G 6144889-A-G ***
6089898-AT-A 6221857-AT-A 9×T***
6672034-A-G 6803993-A-G ***
6726643-A-G 6858602-A-G ***
7158282-A-G 7290241-A-G ***
8907601-G-T 9039560-G-T ***
9453097-G-A 9615488-G-A ***
10080036-G-A 10242427-G-A ***
13524582-T-C 11368906-T-C ***
14184452-A-G 12063746-A-G ***
14725913-CT-C 12613981-CT-C ***
15107063-G-A 12995150-G-A ***
15948976-T-C 13837096-T-C ***
16739069-GAA-G,GAAA 14627189-GAA-G,GAAA 17×A***
17093262-A-G 14981382-A-G ***
17642982-A-G 15531102-A-G ***
19313732-G-A 17201852-G-A ***
19370319-T-C 17258439-T-C ***
20968252-A-G 18806366-A-G P4_Dst ***
22312642-A-G 20150756-A-G DYZ19 ***
22652320-T-C 20490434-T-C ***
22746954-T-A 20585068-T-A ***
23414270-A-G 21252384-A-G ***
23419475-T-C 21257589-T-C ***
28492932-A-ATTT 26346785-A-ATTT 22×T***
28747705-ATTT-A,AT 26601558-ATTT-A,AT 27×T***

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.