Tree Position

R-P312/S116 > Z40481 > ZZ11 > DF27/S250 > ZZ12 > Z46512 > FGC78762 > ZZ19 > Z31644 > Z42772 > 8742535-G-GT > A431 > BY19161 > BY164509 > BY166389

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 STRKane-BY3
85467
5404330-C-G 5536289-C-G FT78428 +
5851929-C-A 5983888-C-A FT78562 +
10779695-GTTCCATTCCACTCCA-G +
16020951-C-T 13909071-C-T FT79375 YY+
18389991-C-T 16278111-C-T FT79691 P6_Gap +
23189807-G-A 21027921-G-A BY168692 Y+
23672293-T-TTCCC 21510407-T-TTCCC +
6445011-C-G 6576970-C-G *
13243603-T-C 11087927-T-C *
13244925-T-G 11089249-T-G *
59008525-G-A 56862378-G-A *
59011484-C-T 56865337-C-T *
59014005-T-TCC 56867858-T-TCC *
59014042-T-A 56867895-T-A *
59014100-C-T 56867953-C-T *
59019568-T-A 56873421-T-A *
59030061-A-G 56883914-A-G *
13489398-G-T 11333722-G-T *
59010290-T-C 56864143-T-C *
59010308-C-T 56864161-C-T *
56846565-C-G *
5828966-AACACACAC-A,AACAC 5960925-AACACACAC-A,AACAC 22×AC*
13489372-G-T 11333696-G-T *
13292982-G-A 11137306-G-A *
28812653-G-T 26666506-G-T BY155831 *
13708698-T-A 11553022-T-A *
16679099-ATTTT-A,ATTT 14567219-ATTTT-A,ATTT 25×T*
16344458-GCTTCTT-G,GCTT 14232578-GCTTCTT-G,GCTT 12×CTT*
21085779-CAAA-C,CAA 18923893-CAAA-C,CAA 24×A*
14747961-CTTT-C,CTTTT 12636030-CTTT-C,CTTTT 22×T*
56856122-A-G *
7135386-ATTTTT-A,ATTTT 7267345-ATTTTT-A,ATTTT 22×T*
13701864-G-T 11546188-G-T *
21468745-AT-A,ATT 19306859-AT-A,ATT 25×T*
56856068-G-T *
56883935-G-T *
56883938-G-A *
13707392-ACCATT-A 11551716-ACCATT-A *
13707399-A-T 11551723-A-T *
13487823-C-G 11332147-C-G *
56826007-G-GCA,T *
13462250-A-AAC 11306574-A-AAC *
17313273-CTGTAT-C,C 15201393-CTGTAT-C,C 11×TGTAT*
13292884-T-C 11137208-T-C *
13448753-C-T 11293077-C-T *
56877854-CAAAAA-C,CAAAA 18×A*
56834380-T-TTCCATTCCATTCCAC,TTCCGTTCAATTCCTC *
23194817-CTTTTT-C,CTTTT 21032931-CTTTTT-C,CTTTT 24×T*
13489617-C-A,CCCGTCCT 11333941-C-A,CCCGTCCT *
56882843-G-A *
56883916-A-G *
13730519-G-A 11574843-G-A *
5496242-C-A 5628201-C-A *
8648172-GATAT-G,GATATATAT 8780131-GATAT-G,GATATATAT 14×AT*
9227801-A-T,T 9390192-A-T,T *
13253275-GA-G 11097599-GA-G *
13462285-T-TCCTCTTCGTCTCTCTGGC 11306609-T-TCCTCTTCGTCTCTCTGGC *
13462287-A-ACACCAGCAACGTCACCACTCCCACCTCCCCCACCACACCACCCCTTGGCTGCAGGCCTCGACTCCACCCTTCC 11306611-A-ACACCAGCAACGTCACCACTCCCACCTCCCCCACCACACCACCCCTTGGCTGCAGGCCTCGACTCCACCCTTCC *
13476609-T-C,G 11320933-T-C,G *
13487845-G-C 11332169-G-C *
13489723-A-ATCCCTCCAGTGTCTCACCTCCTCTGCGCCTCCCCACCACAGACGCCGGCCCACCCCGCCGGCTG 11334047-A-ATCCCTCCAGTGTCTCACCTCCTCTGCGCCTCCCCACCACAGACGCCGGCCCACCCCGCCGGCTG *
13701898-C-A 11546222-C-A *
16836267-G-GT,GTTT 14724387-G-GT,GTTT 11×T*
16913422-CAAAAA-C,CAAA 14801542-CAAAAA-C,CAAA 21×A*
17459485-CAAAA-C,CAAAAA 15347605-CAAAA-C,CAAAAA 25×A*
18615932-CTTTTT-C,CTTTT 16504052-CTTTTT-C,CTTTT 27×T*
18685627-C-CTG,CTG 16573747-C-CTG,CTG 17×TG*
19126436-C-CAAAAAAAAAAA,CAAAAAAAAAAAAA 17014556-C-CAAAAAAAAAAA,CAAAAAAAAAAAAA 25×A*
22048230-CA-C,CAA 19886344-CA-C,CAA 15×A*
22319927-C-A 20158041-C-A DYZ19 *
56831048-A-AAGAGTCATGTAACTCTTGTCTAGGCTCTGCTTACAGGGGGTATTTTGACATATCTCTGCACTGATCACCTAAGTGATGTAACAC *
56846556-G-A *
56846569-T-A *
22816366-CA-C 20654480-CA-C 29×A**
17074637-G-GTT 14962757-G-GTT 34×T**
5900371-A-G 6032330-A-G **
22272433-G-T 20110547-G-T BY158448 DYZ19 **
28818194-GTGGAATGGAA-G 26672047-GTGGAATGGAA-G 5×TGGAA**
13469858-G-T 11314182-G-T **
3081812-C-CA 3213771-C-CA 33×A**
56842340-CT-C **
56710824-A-G **
22459694-T-A 20297808-T-A DYZ19 **
22459700-C-A 20297814-C-A DYZ19 **
22459713-G-A 20297827-G-A DYZ19 **
4571079-A-AAAG 4703038-A-AAAG 6×AAAG**
13963824-A-ATTTTTTTTTT 11843118-A-ATTTTTTTTTT 49×T**
15629095-A-G 13517215-A-G **
15629096-T-C 13517216-T-C **
18304219-T-G 16192339-T-G P6_Prx **
18304225-A-G 16192345-A-G P6_Prx **
22272446-C-A 20110560-C-A BY202254 DYZ19 **
22983553-C-A 20821667-C-A **
56756802-T-G **
56756807-TCA-T **
56756810-G-GTA **
25395702-CTT-C 23249555-CTT-C P2_r2 20×T***
58827219-T-C 56763652-A-G ***
18328770-G-T 16216890-G-T P6_Prx ***
13351256-A-G 11195580-A-G ***
4358682-CCA-C 4490641-CCA-C ***
5548849-T-G 5680808-T-G ***
13252473-C-T 11096797-C-T ***
14198038-GCA-G 12077332-GCA-G 8×CA***
22936288-C-CTTTTTT 20774402-C-CTTTTTT 25×T***
5591787-A-C 5723746-A-C ***
9105269-TCA-T 9267660-TCA-T ***
13351239-A-G 11195563-A-G ***
13470776-GC-G 11315100-GC-G ***
59016426-G-A 56870279-G-A ***
24562932-CT-C 22416785-CT-C P3_t2 11×T***
4498179-A-ATTTTTT 4630138-A-ATTTTTT 23×T***
5905890-CAAA-C 6037849-CAAA-C 27×A***
13694462-G-A 11538786-G-A ***
16458196-A-C 14346316-A-C ***
13477249-A-G 11321573-A-G ***
13474426-T-G 11318750-T-G ***
10884536-A-C ***
17561990-GT-G,GTT 15450110-GT-G,GTT 17×T***
13463888-G-A 11308212-G-A ***
19079234-CTTTTT-C 16967354-CTTTTT-C 19×T***
28818962-G-A 26672815-G-A ***
10884537-C-T ***
56842300-G-A ***
56862566-A-C ***
5769175-C-CT 5901134-C-CT 17×T***
9124294-C-G 9286685-C-G ***
13469875-C-A 11314199-C-A ***
13242900-A-T 11087224-A-T ***
5227124-C-A 5359083-C-A ***
23196176-GT-G,GTT 21034290-GT-G,GTT 20×T***
3838601-CTTTT-C 3970560-CTTTT-C 31×T***
16778333-C-CT 14666453-C-CT 10×T***
56850191-G-A ***
56864628-A-G ***
13256416-C-T 11100740-C-T ***
13435523-A-G 11279847-A-G ***
13474494-T-A 11318818-T-A ***
26631899-A-AT 24485752-A-AT P1_g2 20×T***
22480570-A-G 20318684-A-G DYZ19 ***
13483368-C-T 11327692-C-T ***
13468286-G-A 11312610-G-A ***
22272416-A-C 20110530-A-C BY215377 DYZ19 ***
13543452-G-A 11387776-G-A ***
18626582-CT-C,CTT 16514702-CT-C,CTT 25×T***
4346565-AT-A,ATT 4478524-AT-A,ATT 22×T***
21919404-CT-C,CTT 19757518-CT-C,CTT 16×T***
28565722-TTA-T,TTATA 26419575-TTA-T,TTATA 13×TA***
4184526-T-A 4316485-T-A ***
5453148-T-G 5585107-T-G ***
13607590-C-T 11451914-C-T BY166028FT354037 ***
4373263-C-T 4505222-C-T ***
27028342-C-A 24882195-C-A P1_r4 ***
16458192-T-C 14346312-T-C ***
14158602-T-TTA 12037896-T-TTA ***
5338087-ATTTT-A 5470046-ATTTT-A 16×T***
7461754-GTT-G,GTTTT 7593713-GTT-G,GTTTT IR1_L 23×T***
16205796-C-CTTT 14093916-C-CTTT 21×T***
13711749-GAACGGAATGGAATTAAATGGAACGGAATGGAATGGCATGGAATGGAATGGCATGGCATGGAATGGAATGGAATGGAATGGAATGA-G 11556073-GAACGGAATGGAATTAAATGGAACGGAATGGAATGGCATGGAATGGAATGGCATGGCATGGAATGGAATGGAATGGAATGGAATGA-G ***
14768710-T-C 12656779-T-C ***
13487883-G-C 11332207-G-C ***
13487891-G-A 11332215-G-A ***
56873004-G-T ***
5783827-A-G 5915786-A-G FT211687 ***
13469896-T-TCC 11314220-T-TCC ***
13256436-TG-T 11100760-TG-T ***
7348570-C-CT 7480529-C-CT ***
7348571-C-T 7480530-C-T ***
7348574-CA-C 7480533-CA-C ***
7348577-A-G 7480536-A-G ***
13468224-G-C 11312548-G-C ***
14764914-ATT-A,ATTT 12652983-ATT-A,ATTT 23×T***
25963867-C-CTTT,CTTT 23817720-C-CTTT,CTTT P1_Y1 34×T***
56685584-T-C ***
56685614-T-C ***
13489543-C-T 11333867-C-T ***
13477271-C-A 11321595-C-A ***
13734796-G-A 11579120-G-A ***
13463900-G-C 11308224-G-C ***
13469900-AAC-A 11314224-AAC-A ***
6948092-G-GTTTTTTTTTTTTT 7080051-G-GTTTTTTTTTTTTT 31×T***
25966803-A-C 23820656-A-C P1_Y1 ***
9839545-C-CAAA 10001936-C-CAAA 23×A***
13489963-A-G 11334287-A-G ***
13734773-G-T 11579097-G-T ***
13470586-G-C 11314910-G-C ***
22272368-A-C 20110482-A-C DYZ19 ***
5523917-CT-C,CTT 5655876-CT-C,CTT 24×T***
7100954-CT-C,CTT 7232913-CT-C,CTT 32×T***
13470598-TG-T 11314922-TG-T ***
4163459-A-G 4295418-A-G ***
4184536-T-A 4316495-T-A ***
4191317-C-A 4323276-C-A ***
4200055-C-CA,CAA 4332014-C-CA,CAA 23×A***
5270693-CTT-C,CTTTT 5402652-CTT-C,CTTTT 22×T***
5674090-T-C 5806049-T-C ***
6369563-TTTG-T 6501522-TTTG-T 5×TTG***
6434919-AG-A 6566878-AG-A ***
6434922-A-T 6566881-A-T ***
7076612-CA-C,CAAAAAAAA 7208571-CA-C,CAAAAAAAA 29×A***
7179734-GT-G,TT 7311693-GT-G,TT 25×T***
7520781-AT-A 7652740-AT-A 8×T***
7998489-G-T 8130448-G-T ***
9352635-G-C 9515026-G-C ***
9959850-A-ATAG 10122241-A-ATAG ***
10677550-T-A ***
10801836-C-A ***
13256439-TTTTTG-T 11100763-TTTTTG-T ***
13351252-C-T 11195576-C-T ***
13452144-A-AC 11296468-A-AC ***
13463835-CCGTT-C 11308159-CCGTT-C ***
13463840-T-TGGGC 11308164-T-TGGGC ***
13463854-C-T 11308178-C-T ***
13468335-AAAGCCCCATCACCT-A 11312659-AAAGCCCCATCACCT-A ***
13468351-GATGATCAGTGCAGAGTTATGTCACAAAGTCCCGTTAGGCAGATCCTGGAGAAGA-G 11312675-GATGATCAGTGCAGAGTTATGTCACAAAGTCCCGTTAGGCAGATCCTGGAGAAGA-G ***
13470779-T-A 11315103-T-A ***
13476675-AAG-A 11320999-AAG-A ***
13476679-C-CCCGG 11321003-C-CCCGG ***
13487752-C-G 11332076-C-G ***
13487893-G-T 11332217-G-T ***
13489326-T-C 11333650-T-C ***
13489431-G-T 11333755-G-T ***
13638511-G-T 11482835-G-T ***
13842726-T-A 11722020-T-A ***
13842728-G-C 11722022-G-C ***
14075599-G-GAAAAAAAAAAAAAAAAAAA 11954893-G-GAAAAAAAAAAAAAAAAAAA 38×A***
12450522-C-CTTTT,CTTTT 41×T***
15573796-G-GGTGGCTC 13461916-G-GGTGGCTC ***
15573797-A-AT 13461917-A-AT ***
15580333-A-T 13468453-A-T ***
16458187-T-TG 14346307-T-TG ***
17592345-CT-C,CTTT 15480465-CT-C,CTTT 24×T***
17678621-CTT-C,CTTT 15566741-CTT-C,CTTT 26×T***
17731014-C-CAAAAAAAAA,CAAAAAAAAA 15619134-C-CAAAAAAAAA,CAAAAAAAAA 35×A***
17946919-GT-G,GTTTT 15835039-GT-G,GTTTT 24×T***
18328774-C-A 16216894-C-A P6_Prx ***
18354384-A-G 16242504-A-G P6_Prx ***
19189430-CTTTT-C 17077550-CTTTT-C 35×T***
19393098-CTTT-C,CTTTT 17281218-CTTT-C,CTTTT 30×T***
21510712-T-A 19348826-T-A ***
21827606-CA-C,C 19665720-CA-C,C 21×A***
22085724-G-T 19923838-G-T ***
22185855-CTTT-C,CTT 20023969-CTTT-C,CTT 25×T***
22471695-A-G 20309809-A-G DYZ19 ***
22480566-T-A 20318680-T-A BY224462 DYZ19 ***
22480577-G-C 20318691-G-C FT460404 DYZ19 ***
22509504-A-C 20347618-A-C DYZ19 ***
23041198-G-GAAA,GAAA 20879312-G-GAAA,GAAA 34×A***
23070772-C-CTTTTTTTTT 20908886-C-CTTTTTTTTT 29×T***
23352217-A-G 21190331-A-G ***
27028348-G-T 24882201-G-T P1_r4 ***
27028355-T-A 24882208-T-A P1_r4 ***
56685530-G-T ***
56707006-A-T ***
56855079-G-C ***

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.