Tree Position

R-P312/S116 > Z290 > L21/S145 > DF63/S522 > BY28644

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
157855
22316692-G-A 20154806-G-A DYZ19 A*
22313190-G-T 20151304-G-T DYZ19 A*
22310329-C-T 20148443-C-T DYZ19 A*
21023235-G-GT 18861349-G-GT P4_Dst 8×TA*
26177042-C-T 24030895-C-T P1_Y1 A*
13687637-G-A 11531961-G-A A*
18272340-C-CGG 16160460-C-CGG P6_Prx A*
18323829-T-C 16211949-T-C P6_Prx A*
7539689-T-C 7671648-T-C Y136120 YY+
22039106-A-G 19877220-A-G Y136196 YY+
7207728-C-T 7339687-C-T YY+
21441532-C-T 19279646-C-T Y76483 YY+
7034716-A-G 7166675-A-G Y136205 YY+
19481205-A-G 17369325-A-G Y136122 YY+
6834134-CAG-C 6966093-CAG-C +
6699413-CTCTT-C 6831372-CTCTT-C +
20641-C-T +
19104287-C-T 16992407-C-T Y136184 YY+
18714720-G-T 16602840-G-T Y136126 YY+
22442498-A-C 20280612-A-C DYZ19 +
13683768-CAATGGAATGGAATAA-C 11528092-CAATGGAATGGAATAA-C +
17921372-T-A 15809492-T-A Y136138 YY+
17758869-A-G 15646989-A-G Y136150 YY+
17753797-G-A 15641917-G-A Y136163 YY+
17587428-C-T 15475548-C-T Y136143 YY+
16650580-C-T 14538700-C-T Y136193 YY+
16521924-A-G 14410044-A-G Y136156 YY+
14500713-C-G 12388918-C-G Y136139 YY+
18655183-G-A 16543303-G-A S21136 YY+
20064322-T-C 17952442-T-C Y136171 P5_Gap +
22459747-A-C 20297861-A-C DYZ19 +
23308714-A-G 21146828-A-G Y136195 YY+
28785242-C-T 26639095-C-T Y136159 +
8897170-A-G 9029129-A-G Y136208 Y+
6931623-T-G 7063582-T-G BY33591 YY+
6931614-C-T 7063573-C-T BY34492 YY+
19538170-G-A 17426290-G-A Z32703 YY+
23756086-T-C 21594200-T-C Y136141 Y+
8364376-G-A 8496335-G-A Y136145 YY+
17435983-C-T 15324103-C-T Y27333 YY+
22462084-G-A 20300198-G-A FGC73364 DYZ19 +
22657258-G-A 20495372-G-A Y136181 YY+
8725759-TCACACA-T 8857718-TCACACA-T 19×CA*
14011211-G-T 11890505-G-T **
13601009-A-G 11445333-A-G **
10836037-C-A **
10824147-C-CGTCGGGTTG **
10812983-C-A **
13709294-T-A 11553618-T-A **
14696806-C-A 12584872-C-A **
14589430-C-A 12477630-C-A **
10789914-T-G **
12374927-C-A **
13999174-G-A 11878468-G-A **
11664952-T-C **
14031897-G-T 11911191-G-T **
13878795-C-T 11758089-C-T **
13461549-C-T 11305873-C-T **
10769417-T-TAAGAC **
14012360-C-A 11891654-C-A **
13928131-A-C 11807425-A-C **
10752536-T-G **
13888609-C-CT 11767903-C-CT 8×T**
11014316-C-A **
11014512-C-T **
14742219-G-A 12630287-G-A **
10925670-A-AC **
10931097-A-T **
10945183-T-G **
10901532-C-A **
10947870-CCTCTG-C **
10900835-A-T **
10952644-C-A **
10952890-C-A **
10953467-C-A **
10873179-C-ACTCTTGTTTA **
10958550-C-T **
10851325-A-T **
10958582-A-T **
10958832-A-ACGCAT **
10859115-C-A **
10985086-T-A **
10986955-T-G **
10987374-C-A **
10997107-C-A **
11011429-T-A **
11012483-C-T **
10925673-C-CATTT **
10858725-C-A **
14700676-C-G 12588742-C-G **
16974295-C-T 14862415-C-T **
14764912-TA-T 12652981-TA-T **
22962080-T-A 20800194-T-A **
19684172-AT-A 17572292-AT-A P5_Prx **
21545396-C-A 19383510-C-A **
21552578-C-CT 19390692-C-CT 9×T**
22012981-G-T 19851095-G-T **
22027754-C-A 19865868-C-A **
22209430-A-C 20047544-A-C **
22286518-C-G 20124632-C-G DYZ19 **
22286533-A-T 20124647-A-T DYZ19 **
22286549-C-G 20124663-C-G DYZ19 **
22366263-T-G 20204377-T-G DYZ19 **
22537140-T-G 20375254-T-G **
22614040-T-G 20452154-T-G **
22962081-G-C 20800195-G-C **
19522644-G-A 17410764-G-A **
23441197-C-A 21279311-C-A **
23875199-C-A 21713313-C-A **
24466085-T-G 22319938-T-G **
24597808-T-G 22451661-T-G P3_t2 **
24597880-C-G 22451733-C-G P3_t2 **
25885761-G-A 23739614-G-A P1_Y1 **
25980168-G-T 23834021-G-T P1_Y1 **
26053826-C-A 23907679-C-A P1_Y1 **
26276084-A-T 24129937-A-T P1_Y1 **
28557534-C-A 26411387-C-A **
28591133-ATC-A 26444986-ATC-A **
28707334-T-C 26561187-T-C **
19575991-C-A 17464111-C-A P5_Prx **
19464312-G-T 17352432-G-T **
14785618-C-A 12673688-C-A **
10672600-G-T **
14986477-C-A 12874545-C-A **
15355063-C-T 13243182-C-T **
15365213-C-A 13253333-C-A **
15424260-G-T 13312380-G-T **
15490491-C-A 13378611-C-A **
15698514-T-G 13586634-T-G **
15748775-C-A 13636895-C-A **
16272673-G-T 14160793-G-T **
16342358-AAGAG-A 14230478-AAGAG-A **
16532679-C-A 14420799-C-A **
16703797-G-T 14591917-G-T **
16708351-T-G 14596471-T-G **
17884697-C-A 15772817-C-A **
19429570-T-A 17317690-T-A **
18057974-T-G 15946094-T-G **
18136213-C-A 16024333-C-A Y136146 **
18195882-C-A 16084002-C-A **
18531225-C-A 16419345-C-A P6_Dst **
18628029-A-G 16516149-A-G **
18859316-A-T 16747436-A-T **
18901992-C-A 16790112-C-A **
18989587-G-A 16877707-G-A **
19009319-T-A 16897439-T-A **
19067930-C-G 16956050-C-G Y136153 **
19235625-C-A 17123745-C-A **
19297900-G-T 17186020-G-T **
19333395-G-A 17221515-G-A **
10691173-A-G **
7717729-C-T 7849688-C-T BY29253 **
10665726-C-A **
17374644-G-T 15262764-G-T **
7384692-C-A 7516651-C-A **
7197441-C-A 7329400-C-A **
13859871-A-G 11739165-A-G **
15286012-C-A 13174111-C-A **
10682831-T-A **
24069734-G-T 21923587-G-T P3_b1 **
10958814-TCCAC-T **
10958819-TC-T **
15636060-C-A 13524180-C-A **
10666381-G-T **
11668769-G-T **
10919359-C-A **
10925677-T-C **
10995605-C-A **
7043580-G-T 7175539-G-T **
10787834-C-A **
14025608-AAGAGAG-A 11904902-AAGAGAG-A **
14561311-C-A 12449512-C-A **
10947897-T-A **
10947916-A-C **
10987401-C-G **
21012324-G-T 18850438-G-T P4_Dst **
7861103-C-A 7993062-C-A **
2696468-C-A 2828427-C-A **
2788986-G-A 2920945-G-A **
2793110-C-A 2925069-C-A **
3022065-A-C 3154024-A-C **
10987428-C-G **
18106663-C-A 15994783-C-A **
3091951-G-A 3223910-G-A **
28591124-A-G 26444977-A-G **
8154134-C-CTT 8286093-C-CTT 16×T**
14008776-ACG-A 11888070-ACG-A **
21748240-C-A 19586354-C-A **
4262437-C-A 4394396-C-A **
10040860-T-C 10203251-T-C **
14357762-C-A 12237057-C-A Z19072 **
22286527-A-T 20124641-A-T DYZ19 **
4983174-ATT-A 5115133-ATT-A 28×T**
13466087-T-C 11310411-T-C **
8878800-T-G 9010759-T-G **
28505279-C-A 26359132-C-A **
10682518-A-C **
11022959-CTCA-C **
9438099-CTT-C 9600490-CTT-C 30×T**
14779470-C-A 12667540-C-A **
10873185-T-C **
18303264-A-G 16191384-A-G P6_Prx **
10956623-C-A **
10921170-C-G **
27994690-A-AG 25848543-A-AG P1_Y2 **
13461564-A-G 11305888-A-G **
13872166-G-T 11751460-G-T **
17355483-C-A 15243603-C-A **
10943832-C-A **
11003393-G-C **
21713432-G-T 19551546-G-T **
11643416-T-A **
11022939-C-G **
3023608-G-T 3155567-G-T **
16943565-C-A 14831685-C-A **
3513197-C-T 3645156-C-T **
7322938-G-A 7454897-G-A **
5934077-G-T 6066036-G-T **
6028196-C-A 6160155-C-A **
6037766-A-G 6169725-A-G **
6150095-C-A 6282054-C-A IR3_Dst **
6191289-C-A 6323248-C-A IR3_Dst **
6330169-G-T 6462128-G-T IR3_Dst **
6368450-C-A 6500409-C-A **
6413476-C-T 6545435-C-T 9×T**
6592380-C-A 6724339-C-A **
6978363-C-A 7110322-C-A **
7040409-G-T 7172368-G-T **
7105167-G-GAA 7237126-G-GAA 11×A**
7143480-C-A 7275439-C-A **
7158099-T-A 7290058-T-A **
7860202-A-T 7992161-A-T **
5860046-C-A 5992005-C-A **
7939422-G-T 8071381-G-T **
7968486-G-T 8100445-G-T **
7996236-T-G 8128195-T-G **
8110710-A-C 8242669-A-C **
8166820-T-G 8298779-T-G **
9075269-C-T 9237660-C-T **
9559521-TGTGTGC-A 9721912-TGTGTGC-A IR3_Prx **
9934102-C-A 10096493-C-A **
10040849-G-A 10203240-G-A **
10060175-G-A 10222566-G-A Y29732 **
10649263-C-T **
10649301-C-G **
10649305-A-T **
10659888-C-G **
5867335-T-G 5999294-T-G **
6224580-C-T 6356539-C-T IR3_Dst **
10649342-A-C **
5226289-G-T 5358248-G-T **
4331390-G-T 4463349-G-T **
4038404-C-A 4170363-C-A **
4343826-G-T 4475785-G-T **
4445770-A-G 4577729-A-G **
4456923-C-A 4588882-C-A **
3936648-C-A 4068607-C-A **
4662355-C-A 4794314-C-A **
3868483-C-A 4000442-C-A **
4076256-C-CAA 4208215-C-CAA 21×A**
4823074-C-A 4955033-C-A **
4136408-C-T 4268367-C-T **
5524649-A-G 5656608-A-G **
3555611-C-A 3687570-C-A **
3679070-C-A 3811029-C-A **
5301248-G-A 5433207-G-A **
5507410-C-A 5639369-C-A **
5687358-C-A 5819317-C-A **
3645108-C-A 3777067-C-A **
5228329-C-T 5360288-C-T **
5560657-C-A 5692616-C-A **
56847514-T-C ***
15686931-A-G 13575051-A-G ***
8672979-C-T 8804938-C-T ***
15331691-C-A 13219809-C-A ***
10801266-C-G ***
10662059-C-A ***
17675541-GAAAAA-G 15563661-GAAAAA-G 20×A***
6792628-CAAAAAA-C 6924587-CAAAAAA-C 18×A***
10849693-C-G ***
15324344-TG-G,T 13212462-TG-G,T ***
13835140-C-A 11714434-C-A ***
10948230-G-T ***
10776544-T-A ***
19039254-C-A 16927374-C-A ***
56834927-C-A ***
10776553-A-T ***
15622696-C-A 13510816-C-A ***
7436316-C-A 7568275-C-A ***
6931622-C-T 7063581-C-T ***
56734825-G-T ***
7867924-GAAAGAAAGAAAG-G,GAAAGAAAGAAAGAAAC 7999883-GAAAGAAAGAAAG-G,GAAAGAAAGAAAGAAAC ***
10953544-C-A ***
13466304-G-C 11310628-G-C ***
21133556-CAAAAAA-C 18971670-CAAAAAA-C 23×A***
13677809-G-T 11522133-G-T ***
22429123-T-C 20267237-T-C DYZ19 ***
10776527-C-A ***
10684263-CCACTG-C,CCACTC ***

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.

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