Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > FGC5494 > FGC5561 > FGC7448 > FGC5496 > FGC5521 > FGC5549 > FGC5499 > FGC5511 > FGC5517

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
16988034-A-T 14876154-A-T FGC5493 Z10785 YY+
3348125-C-T 3480084-C-T FGC5497 +
3611426-A-C 3743385-A-C FGC5498 +
5467076-A-G 5599035-A-G FGC5503 +
5626920-T-C 5758879-T-C FGC5504 +
5856921-C-A 5988880-C-A FGC5505 +
6676738-G-A 6808697-G-A FGC5507 YY+
7811639-T-C 7943598-T-C Y21410FGC5510 YY+
9929665-C-G 10092056-C-G FGC5513 Y+
13816075-G-A 11695369-G-A FGC5515 +
14010554-A-G 11889848-A-G FGC5516 YY+
14190608-C-T 12069902-C-T FGC5518 YY+
14354995-C-T 12234290-C-T FGC5519 Y+
14679506-C-G 12567572-C-G FGC5520 Y+
14998294-C-T 12886379-C-T FGC5523 YY+
15704259-A-G 13592379-A-G FGC5524 YY+
15713570-T-C 13601690-T-C FGC5525 YY+
16855636-C-T 14743756-C-T FGC5528 YY+
17342711-C-G 15230831-C-G FGC5530 YY+
17770283-G-A 15658403-G-A FGC5532 YY+
18139162-G-A 16027282-G-A FGC5535 Y+
18269066-G-A 16157186-G-A FGC5537 +
18565974-C-T 16454094-C-T FGC5538 YY+
21313657-G-C 19151771-G-C FGC5541 YY+
21795884-C-A 19633998-C-A FGC5542 Y+
22536919-C-G 20375033-C-G FGC5550 Y+
22888282-T-C 20726396-T-C FGC5553 YY+
22888810-C-T 20726924-C-T FGC5554 YY+
23358499-C-T 21196613-C-T FGC5555 Y+
3888924-C-T 4020883-C-T FGC5500 *
4591304-A-G 4723263-A-G FGC5501 *
4769938-G-A 4901897-G-A FGC5502 *
6537999-T-C 6669958-T-C FGC5506 *
6745642-T-C 6877601-T-C FGC5508 YY*
6821373-G-C 6953332-G-C FGC5509 Y*
13112758-C-G 10602244-C-G FGC7997 *
16844447-C-G 14732567-C-G FGC5527 YY*
22448932-C-G 20287046-C-G FGC5547 DYZ19 *
14258526-A-C 12137820-A-C **
9930577-T-C 10092968-T-C **
13483695-C-A 11328019-C-A **
10011498-G-C 10173889-G-C **
13287974-T-C 11132298-T-C **
9930543-T-C 10092934-T-C FGC24635 **
10011545-T-G 10173936-T-G **
13475663-G-A 11319987-G-A **
4440146-C-A 4572105-C-A FT206351 **
4440147-C-T 4572106-C-T FT206352 **
9930570-A-G 10092961-A-G **
13416387-T-A 11260711-T-A **
13837465-T-C 11716759-T-C BY43263 FGC77813 **
14258540-A-G 12137834-A-G **
14398810-C-T 12278106-C-T **
21427969-C-A 19266083-C-A FT207815 **
24940894-C-T 22794747-C-T FGC77814 g1 **
28802831-A-G 26656684-A-G **
21066622-AAAGAT-A 18904736-AAAGAT-A **
24388197-C-CTA 22242050-C-CTA FGC5562 **
22481429-G-C 20319543-G-C DYZ19 ***
22503403-C-G 20341517-C-G DYZ19 ***
13129710-T-C 10619196-T-C ***
13129714-T-C 10619200-T-C ***
13129723-C-G 10619209-C-G ***
14258574-C-A 12137868-C-A ***
14258626-G-A 12137920-G-A ***
22358856-G-A 20196970-G-A DYZ19 ***
22366630-A-G 20204744-A-G DYZ19 ***
22366658-G-T 20204772-G-T DYZ19 ***
58867610-G-C 56723261-C-G ***
58885381-C-T 56705490-G-A ***
10015413-AGAT-CGAC 10177804-AGAT-CGAC ***
19126436-C-CAAAAAAAA 17014556-C-CAAAAAAAA 25×A***
22232040-CAAA-AAAT 20070154-CAAA-AAAT DYZ19 ***
22232055-ACAC-GCAT 20070169-ACAC-GCAT DYZ19 ***
22366638-ATCCTT-TTTCTG 20204752-ATCCTT-TTTCTG DYZ19 ***
13484485-G-C 11328809-G-C ***
22235006-C-T 20073120-C-T DYZ19 ***
22236377-G-C 20074491-G-C DYZ19 ***
22367222-G-T 20205336-G-T DYZ19 ***
22450095-C-G 20288209-C-G DYZ19 ***
58852082-T-C 56738789-A-G ***
58874887-C-G 56715984-G-C ***
28804509-ATATGA-GAATGG 26658362-ATATGA-GAATGG ***
9956830-T-C 10119221-T-C ***
22248457-G-C 20086571-G-C DYZ19 ***
58840515-G-C 56750356-C-G ***
58840611-C-A 56750260-G-T ***
3550573-TC-AA 3682532-TC-AA ***
22488459-T-C 20326573-T-C DYZ19 ***
13129608-C-T 10619094-C-T ***
20367892-C-T 18206006-C-T P5_Dst ***
20367923-A-T 18206037-A-T P5_Dst ***
20367927-A-C 18206041-A-C P5_Dst ***
20367933-G-C 18206047-G-C P5_Dst ***
20367944-C-A 18206058-C-A P5_Dst ***
20367984-C-A 18206098-C-A P5_Dst ***
22226503-G-T 20064617-G-T DYZ19 ***
58850709-T-A 56740162-A-T ***
58874918-C-T 56715953-G-A ***
20367899-AACA-GACT 18206013-AACA-GACT P5_Dst ***
22226515-AGAC-GCAA 20064629-AGAC-GCAA DYZ19 ***
22235093-G-GC 20073207-G-GC DYZ19 ***
13482969-TA-CC 11327293-TA-CC ***
20367939-TCT-AC 18206053-TCT-AC P5_Dst ***
58823284-TCTCAT-A 56767582-ATGAGA-T ***
13467815-TTT-CA 11312139-TTT-CA ***
58841350-G-A 56749521-C-T ***
22252860-ATCC-GTCA 20090974-ATCC-GTCA DYZ19 ***
21154937-G-A 18993051-G-A ***
9932720-A-C 10095111-A-C ***
13254767-A-G 11099091-A-G ***
8914959-N-C 9046918-N-C ***
8914960-N-T 9046919-N-T ***
9432986-G-A 9595377-G-A ***
13425480-G-C 11269804-G-C ***
6498648-A-G 6630607-A-G ***
13430612-G-A 11274936-G-A ***
9954500-G-C 10116891-G-C ***
16215451-A-T 14103571-A-T ***
13481964-G-A 11326288-G-A ***
13481965-A-C 11326289-A-C ***
9993472-A-G 10155863-A-G ***
9930280-T-G 10092671-T-G ***
16009042-C-T 13897162-C-T FT30162 ***
9931650-C-T 10094041-C-T ***
10033562-G-T 10195953-G-T ***
13329069-C-T 11173393-C-T ***
10052566-C-T 10214957-C-T ***
3070599-G-T 3202558-G-T ***
3315513-G-A 3447472-G-A ***
4151867-A-T 4283826-A-T ***
5308839-A-G 5440798-A-G ***
5814476-T-C 5946435-T-C ***
6019309-A-C 6151268-A-C FGC77812 ***
6498811-T-G 6630770-T-G ***
8006165-C-G 8138124-C-G ***
9433007-C-T 9595398-C-T ***
9433012-A-G 9595403-A-G ***
9433030-G-A 9595421-G-A ***
9433054-A-T 9595445-A-T ***
9433061-T-C 9595452-T-C ***
9433171-A-G 9595562-A-G ***
9433178-G-T 9595569-G-T ***
9932691-A-G 10095082-A-G ***
9993477-G-A 10155868-G-A ***
10004776-C-T 10167167-C-T ***
10040914-A-G 10203305-A-G ***
13463886-C-T 11308210-C-T ***
13484500-C-T 11328824-C-T ***
13484531-A-G 11328855-A-G ***
13485176-A-C 11329500-A-C ***
13485180-A-G 11329504-A-G ***
14258596-G-A 12137890-G-A ***
14435599-C-G 12314872-C-G ***
15012482-G-A 12900570-G-A ***
15640064-A-G 13528184-A-G ***
16215438-T-C 14103558-T-C ***
16625076-C-T 14513196-C-T ***
20242479-T-G 18080593-T-G P5_Dst 12×G***
20436517-G-T 18274631-G-T P5_Dst ***
20489565-T-A 18327679-T-A P5_Dst ***
20574379-T-C 18412493-T-C P5_Dst ***
20574391-A-G 18412505-A-G P5_Dst ***
20574409-C-T 18412523-C-T P5_Dst ***
20574448-C-T 18412562-C-T P5_Dst ***
20801667-T-C 18639781-T-C P4_Prx ***
21225456-A-T 19063570-A-T ***
22236606-C-T 20074720-C-T DYZ19 ***
22300996-A-C 20139110-A-C DYZ19 ***
22337810-C-T 20175924-C-T DYZ19 ***
22337837-G-T 20175951-G-T DYZ19 ***
22360157-T-A 20198271-T-A DYZ19 ***
22366643-T-G 20204757-T-G DYZ19 ***
22366651-T-G 20204765-T-G DYZ19 ***
22367107-C-A 20205221-C-A DYZ19 ***
22367232-C-A 20205346-C-A DYZ19 ***
22367243-G-A 20205357-G-A DYZ19 ***
22367251-G-C 20205365-G-C DYZ19 ***
22421948-T-C 20260062-T-C DYZ19 ***
22481742-T-A 20319856-T-A DYZ19 ***
22503798-A-C 20341912-A-C DYZ19 ***
22503859-T-A 20341973-T-A DYZ19 ***
22504416-C-A 20342530-C-A DYZ19 ***
22756919-G-A 20595033-G-A ***
22756936-C-A 20595050-C-A ***
24417010-G-A 22270863-G-A ***
25534425-G-T 23388278-G-T P1_gr1 ***
26325360-T-A 24179213-T-A FGC18808 P1_Y1 ***
26344051-G-T 24197904-G-T P1_Y1 ***
26499952-A-G 24353805-A-G P1_Y1 20×T***
27861039-G-T 25714892-G-T P1_Y2 ***
28454412-G-C 26308265-G-C P1_gr2 ***
28802797-A-T 26656650-A-T ***
58840576-C-A 56750295-G-T ***
58843776-G-T 56747095-C-A ***
58872962-A-G 56717909-T-C ***
58876251-T-A 56714620-A-T ***
58906982-C-G 56683889-G-C ***
58908721-T-A 56682150-A-T ***
58909152-A-G 56681719-T-C ***
58914261-G-T 56676610-C-A ***
58916605-A-T 56674266-T-A ***
8914956-NN-GAG 9046915-NN-GAG ***
22256959-TTT-CTC 20095073-TTT-CTC DYZ19 ***
9952688-TC-AT 10115079-TC-AT ***
4440146-CC-AT 4572105-CC-AT ***
4445925-A-ACCAGG 4577884-A-ACCAGG ***
6204517-ATAC-TTAA 6336476-ATAC-TTAA IR3_Dst ***
7327990-G-GGTT 7459949-G-GGTT ***
8481057-TA-T 8613016-TA-T ***
8901991-C-CTTT 9033950-C-CTTT 19×T***
9431973-TCTGAAG-CC 9594364-TCTGAAG-CC ***
9432993-CCC-TCT 9595384-CCC-TCT ***
9931606-TGT-GGA 10093997-TGT-GGA ***
9952729-ATA-TTT 10115120-ATA-TTT ***
10004792-CACAG-GACAT 10167183-CACAG-GACAT ***
10022316-C-CTAAATAAA 10184707-C-CTAAATAAA 5×TAAA***
10052487-GA-AC 10214878-GA-AC ***
10052550-GG-CA 10214941-GG-CA ***
13129710-TACAT-CACAC 10619196-TACAT-CACAC ***
13262792-CGCC-TGCT 11107116-CGCC-TGCT ***
13416387-TGCAT-AACAA 11260711-TGCAT-AACAA ***
13435360-ATA-GTC 11279684-ATA-GTC ***
13445374-AA-G 11289698-AA-G ***
13483472-AG-GC 11327796-AG-GC ***
13483502-C-CG 11327826-C-CG ***
13483709-AT-A 11328033-AT-A ***
13484489-AGTTT-TTTTA 11328813-AGTTT-TTTTA ***
13488450-GCAG-TCAC 11332774-GCAG-TCAC ***
13561686-AAAGG-GAAGA 11406010-AAAGG-GAAGA ***
13683026-CAA-TGG 11527350-CAA-TGG ***
13842612-AA-GG 11721906-AA-GG ***
13863191-GTGA-ACGG 11742485-GTGA-ACGG ***
13898754-G-GTTTTT 11778048-G-GTTTTT 26×T***
16227908-A-AGGAT 14116028-A-AGGAT ***
20368321-C-CA 18206435-C-CA P5_Dst ***
20436543-TAAAG-AAAAA 18274657-TAAAG-AAAAA P5_Dst ***
20801643-CCTT-TTTC 18639757-CCTT-TTTC P4_Prx ***
21929625-T-TATTA 19767739-T-TATTA ***
22234920-CAAA-AAAT 20073034-CAAA-AAAT DYZ19 ***
22234962-ACC-GTA 20073076-ACC-GTA DYZ19 ***
22282156-TCTTC-CCTTT 20120270-TCTTC-CCTTT DYZ19 ***
22337828-AA-GC 20175942-AA-GC DYZ19 ***
22355149-TTCA-GTCT 20193263-TTCA-GTCT DYZ19 ***
22360164-C-CCCCG 20198278-C-CCCCG DYZ19 ***
22366589-CCT-TCG 20204703-CCT-TCG DYZ19 ***
22367118-GA-AG 20205232-GA-AG DYZ19 ***
22367198-CTAATT-AGAATG 20205312-CTAATT-AGAATG DYZ19 ***
22480588-GAATTC-G 20318702-GAATTC-G DYZ19 ***
22495774-CCAAG-TCACT 20333888-CCAAG-TCACT DYZ19 ***
24420879-A-AAAAAAAAAATT 22274732-A-AAAAAAAAAATT 43×T***
27151329-G-TTTTTT 25005182-G-TTTTTT P1_g3 ***
58914422-C-CCATTG 56676444-G-GAATGC ***

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.