Tree Position

R-P312/S116 > Z40481 > ZZ11 > U152/S28 > Z193 > Z40483 > FGC5033 > FGC5065 > FGC5029

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 STRFGC
4123262-G-A 4255221-G-A FGC5024 +
17165063-C-T 15053183-C-T FGC5048 Y+
6725095-A-G 6857054-A-G FGC5027 Y*
13386059-GAA-G 11230383-GAA-G 10×A**
10010637-T-G 10173028-T-G **
9700780-C-CAAAAAA 9863171-C-CAAAAAA IR3_Prx 23×A**
13257193-C-G 11101517-C-G **
13257201-T-C 11101525-T-C **
20434759-T-TAAAA 18272873-T-TAAAA P5_Dst 24×A**
2896179-A-G 3028138-A-G **
14087481-T-C 11966775-T-C **
15295111-T-A 13183210-T-A **
18229537-A-T 16117657-A-T **
22247427-C-A 20085541-C-A DYZ19 **
16474895-A-AAAAT 14363015-A-AAAAT 5×AAAT**
58844027-T-TTCGA 56746842-A-AATCG **
22421811-C-T 20259925-C-T DYZ19 ***
22251518-A-C 20089632-A-C DYZ19 ***
22251553-G-A 20089667-G-A FGC80266 DYZ19 ***
22358856-G-A 20196970-G-A DYZ19 ***
22360117-T-G 20198231-T-G DYZ19 ***
22360686-G-T 20198800-G-T DYZ19 ***
22504768-G-T 20342882-G-T DYZ19 ***
58843537-T-G 56747334-A-C ***
58885346-C-T 56705525-G-A ***
22346872-GG-AA 20184986-GG-AA DYZ19 ***
22263779-GGTGT-AATGG 20101893-GGTGT-AATGG DYZ19 ***
22268371-GC-G 20106485-GC-G DYZ19 ***
22341725-CTTT-TCTG 20179839-CTTT-TCTG DYZ19 ***
22360592-GTGT-CTGG 20198706-GTGT-CTGG DYZ19 ***
22361311-GGCTC-TGCTA 20199425-GGCTC-TGCTA DYZ19 ***
22364716-TTTG-ATTT 20202830-TTTG-ATTT DYZ19 ***
59004689-TT-AA 56858542-TT-AA ***
22252653-T-C 20090767-T-C DYZ19 ***
22252657-C-G 20090771-C-G DYZ19 ***
22252662-A-T 20090776-A-T DYZ19 ***
22252665-T-A 20090779-T-A DYZ19 ***
22252666-G-T 20090780-G-T DYZ19 ***
22252668-T-A 20090782-T-A DYZ19 ***
22263840-CA-TC 20101954-CA-TC DYZ19 ***
22341206-TT-GG 20179320-TT-GG DYZ19 ***
22268318-T-G 20106432-T-G DYZ19 ***
22342588-T-G 20180702-T-G DYZ19 ***
22364637-G-T 20202751-G-T DYZ19 ***
58840611-C-A 56750260-G-T ***
13483494-GG-CA 11327818-GG-CA ***
22366765-TCTC-CCTT 20204879-TCTC-CCTT DYZ19 ***
22480969-G-T 20319083-G-T DYZ19 ***
20540945-T-C 18379059-T-C P5_Dst ***
20540995-T-G 18379109-T-G P5_Dst ***
22236723-G-T 20074837-G-T Z3461 DYZ19 ***
22488436-T-A 20326550-T-A DYZ19 ***
58844010-G-C 56746861-C-G ***
58912635-G-C 56678236-C-G ***
13470378-ACG-CCC 11314702-ACG-CCC ***
20540960-GG-AA 18379074-GG-AA P5_Dst ***
20541008-CT-TG 18379122-CT-TG P5_Dst ***
13475703-G-A 11320027-G-A ***
9931885-C-CT 10094276-C-CT ***
26228689-C-CTTTTT 24082542-C-CTTTTT P1_Y1 27×T***
22263730-C-A 20101844-C-A DYZ19 ***
22263702-C-G 20101816-C-G DYZ19 ***
22268207-A-C 20106321-A-C DYZ19 ***
22502030-A-T 20340144-A-T DYZ19 ***
58877079-G-C 56713792-C-G ***
9952144-TT-GA 10114535-TT-GA ***
19138084-CTATA-C 17026204-CTATA-C 10×TA***
22361071-CTA-AG 20199185-CTA-AG DYZ19 ***
22341150-TTCT-CTCA 20179264-TTCT-CTCA DYZ19 ***
9431843-G-T 9594234-G-T ***
9431852-C-A 9594243-C-A ***
22352948-A-T 20191062-A-T DYZ19 ***
22421441-GC-TGG 20259555-GC-TGG DYZ19 ***
22456649-G-T 20294763-G-T DYZ19 ***
58876848-C-T 56714023-G-A ***
22252860-ATCC-GTCA 20090974-ATCC-GTCA DYZ19 ***
22504708-CCAGT-GCAGA 20342822-CCAGT-GCAGA DYZ19 ***
22365821-C-T 20203935-C-T DYZ19 ***
25424850-T-G 23278703-T-G P2_r2 ***
58841330-G-A 56749541-C-T ***
22337810-C-T 20175924-C-T DYZ19 ***
22337837-G-T 20175951-G-T DYZ19 ***
13129710-TACAT-CACAC 10619196-TACAT-CACAC ***
22337828-AA-GC 20175942-AA-GC DYZ19 ***
13601077-T-C 11445401-T-C ***
22341715-A-G 20179829-A-G DYZ19 ***
16077542-GC-AA 13965662-GC-AA ***
22311211-G-T 20149325-G-T DYZ19 ***
58869751-G-C 56721120-C-G ***
10025112-C-T 10187503-C-T FT255254 ***
13488284-A-G 11332608-A-G ***
22355074-C-A 20193188-C-A DYZ19 ***
9930372-C-T 10092763-C-T ***
9930349-C-G 10092740-C-G ***
13110199-C-T 10599685-C-T ***
13110242-C-A 10599728-C-A ***
22268172-G-T 20106286-G-T DYZ19 ***
22364607-C-A 20202721-C-A DYZ19 ***
13473507-GATA-TATG 11317831-GATA-TATG ***
22341725-C-T 20179839-C-T DYZ19 ***
22354523-C-A 20192637-C-A DYZ19 ***
58876641-A-T 56714230-T-A ***
58910216-TC-T 56680652-TG-T ***
9939366-C-A 10101757-C-A ***
10066843-G-A 10229234-G-A ***
58852349-G-A 56738522-C-T ***
58972572-T-TTCAAG 56826425-T-TTCAAG ***
13379486-A-G 11223810-A-G ***
58907350-C-T 56683521-G-A ***
58893204-G-C 56697667-C-G ***
58893231-G-A 56697640-C-T ***
9932773-CCAA-ACAG 10095164-CCAA-ACAG ***
13467068-T-A 11311392-T-A ***
58864018-A-T 56726853-T-A ***
22361076-CG-TT 20199190-CG-TT DYZ19 ***
58846525-GT-TA 56744345-AC-TA ***
58870411-ATTT-TTTC 56720457-AAAT-GAAA ***
27651805-AG-A 25505658-AG-A P1_Y2 ***
9984959-AGG-GGA 10147350-AGG-GGA ***
9940167-T-C 10102558-T-C ***
13430781-G-A 11275105-G-A ***
28549246-TG-CA 26403099-TG-CA ***
58868299-T-A 56722572-A-T ***
4090893-A-G 4222852-A-G ***
22457317-A-AT 20295431-A-AT DYZ19 ***
22421885-C-T 20259999-C-T DYZ19 ***
22421891-C-A 20260005-C-A DYZ19 ***
13329025-A-G 11173349-A-G FGC40660 ***
13500074-CTGC-ATGG 11344398-CTGC-ATGG ***
9432128-C-T 9594519-C-T Y537 ***
13616366-A-G 11460690-A-G ***
16978147-C-T 14866267-C-T ***
58848948-C-A 56741923-G-T ***
26463097-C-CTTT 24316950-C-CTTT P1_Y1 36×T***
13727996-A-T 11572320-A-T ***
22491341-ATTT-TTTG 20329455-ATTT-TTTG DYZ19 ***
16692116-CC-AA 14580236-CC-AA ***
58823336-C-CA 56767533-A-AT ***
22337792-CAGT-TAGG 20175906-CAGT-TAGG DYZ19 ***
13488293-GAAA-AAAT 11332617-GAAA-AAAT ***
22421909-T-C 20260023-T-C DYZ19 ***
13465445-AA-CT 11309769-AA-CT ***
19604828-AC-A 17492948-AC-A P5_Prx ***
13514189-ATG-GTT 11358513-ATG-GTT ***
22337856-A-G 20175970-A-G DYZ19 ***
22491722-T-C 20329836-T-C DYZ19 ***
13923574-T-A 11802868-T-A ***
13463417-C-T 11307741-C-T ***
22268212-G-T 20106326-G-T DYZ19 ***
3599367-C-T 3731326-C-T ***
3603750-C-A 3735709-C-A ***
3695713-T-A 3827672-T-A ***
4868317-T-C 5000276-T-C ***
7414305-G-A 7546264-G-A BY25523 ***
9428948-T-C 9591339-T-C ***
9432138-G-C 9594529-G-C ***
9432663-C-A 9595054-C-A FTB17297 ***
10060120-G-T 10222511-G-T ***
10060128-T-A 10222519-T-A ***
10090564-A-T 10252955-A-T ***
13126253-G-T 10615739-G-T ***
13348309-C-A 11192633-C-A ***
13348315-T-C 11192639-T-C ***
13461737-C-T 11306061-C-T ***
13470669-G-C 11314993-G-C ***
13478930-T-G 11323254-T-G ***
13479949-C-A 11324273-C-A ***
13480028-A-G 11324352-A-G ***
13489693-C-A 11334017-C-A ***
13489713-C-G 11334037-C-G ***
13733930-A-T 11578254-A-T ***
14133519-A-G 12012813-A-G ***
14530765-G-A 12418966-G-A FT109205 ***
14989150-T-C 12877216-T-C ***
15291649-G-A 13179748-G-A ***
17265526-A-G 15153646-A-G ***
19604840-T-A 17492960-T-A P5_Prx ***
19720700-A-C 17608820-A-C P5_Prx ***
19720703-C-A 17608823-C-A P5_Prx ***
19720706-G-T 17608826-G-T P5_Prx ***
20541541-A-T 18379655-A-T P5_Dst ***
20541596-A-G 18379710-A-G P5_Dst ***
20541621-T-C 18379735-T-C P5_Dst ***
20541877-C-T 18379991-C-T P5_Dst ***
20541906-G-A 18380020-G-A P5_Dst ***
20541914-G-A 18380028-G-A P5_Dst ***
21800791-A-T 19638905-A-T ***
22311287-G-T 20149401-G-T DYZ19 ***
22337795-T-G 20175909-T-G DYZ19 ***
22337828-A-G 20175942-A-G DYZ19 ***
22361387-T-C 20199501-T-C DYZ19 ***
22367072-C-T 20205186-C-T DYZ19 ***
22456994-C-A 20295108-C-A DYZ19 ***
22481337-A-G 20319451-A-G DYZ19 ***
22481844-G-C 20319958-G-C DYZ19 ***
22481856-G-A 20319970-G-A DYZ19 ***
22481867-G-T 20319981-G-T DYZ19 ***
22591056-A-G 20429170-A-G ***
22591066-A-G 20429180-A-G ***
25505117-A-T 23358970-A-T P1_gr1 ***
25546688-C-G 23400541-C-G P1_gr1 ***
58846469-C-G 56744402-G-C ***
58875140-C-T 56715731-G-A ***
58894535-C-T 56696336-G-A ***
58907344-C-T 56683527-G-A ***
58912978-G-C 56677893-C-G ***
58912995-C-A 56677876-G-T ***
23505519-C-AAAA 21343633-C-AAAA ***
58972573-T-TCAATC 56826426-T-TCAATC ***
13463436-CT-GC 11307760-CT-GC ***
22311666-GTG-ATA 20149780-GTG-ATA DYZ19 ***
2984732-TATAA-T 3116691-TATAA-T ***
5354743-TATACAC-T 5486702-TATACAC-T ***
10016654-CACTC-TGCTG 10179045-CACTC-TGCTG ***
13223013-A-AGGGGGGGGG 11067337-A-AGGGGGGGGG ***
13407141-C-CTTCTT 11251465-C-CTTCTT 13×T***
13414797-A-ATCTTATT 11259121-A-ATCTTATT 20×T***
13466819-ACA-TCG 11311143-ACA-TCG ***
13467057-TA-GG 11311381-TA-GG ***
13475323-TGTTA-CGTTG 11319647-TGTTA-CGTTG ***
13488951-TTC-ACT 11333275-TTC-ACT ***
13489688-TG-CGA 11334012-TG-CGA ***
14025612-GAG-A 11904906-GAG-A ***
19508177-CTTTTTT-C 17396297-CTTTTTT-C 19×T***
20541573-TTGT-CTGC 18379687-TTGT-CTGC P5_Dst ***
20541626-CT-TG 18379740-CT-TG P5_Dst ***
20541856-ATATTTA-GTGTTCG 18379970-ATATTTA-GTGTTCG P5_Dst ***
20541887-AAGC-TACT 18380001-AAGC-TACT P5_Dst ***
20541920-ATGGC-GTGGT 18380034-ATGGC-GTGGT P5_Dst ***
21096458-C-CAAAAAA 18934572-C-CAAAAAA 16×A***
22248420-TGTCT-GGTCC 20086534-TGTCT-GGTCC DYZ19 ***
22337470-TAGA-CAGG 20175584-TAGA-CAGG DYZ19 ***
22337833-G-GT 20175947-G-GT DYZ19 ***
22341805-C-CT 20179919-C-CT DYZ19 ***
22344274-TA-CT 20182388-TA-CT DYZ19 ***
22359134-TTTCC-ATTCT 20197248-TTTCC-ATTCT DYZ19 ***
22360476-GT-TC 20198590-GT-TC DYZ19 ***
22936288-C-CTTTTT 20774402-C-CTTTTT 25×T***
24235387-G-GTTTT 22089240-G-GTTTT P3_b1 29×T***
25471946-TC-T 23325799-TC-T P2_r2 ***
27423532-TA-GG 25277385-TA-GG P1_g3 ***
58844025-CAT-TAG 56746844-ATG-CTA ***
58893211-TTTCCC-CCTCAG 56697655-GGGAAA-CTGAGG ***
58893236-ATTCC-TTTCG 56697631-GGAAT-CGAAA ***
58972571-A-ATTCAG 56826424-A-ATTCAG ***
58972574-C-CAATT 56826427-C-CAATT ***

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.