PMID: 27766958

More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing.

BMC genomics
AD Ambers, JD Churchill, JL King, M Stoljarova, H Gill-King, M Assidi, M Abu-Elmagd, A Buhmeida, M Al-Qahtani, B Budowle
2016-10-17

160 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
2-29538411-G-A ALK c.1647+2759C>T - IntronicSNV - 8/28
7-12669251-G-A SCIN c.578+404G>A - IntronicSNV - 7/13
15-28197037-T-C OCA2 c.1844A>G p.His615Arg Missense 18/24 -
11-66898492-G-A KDM2A c.42+9663G>A - IntronicSNV - 2/20
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
19-55614923-T-A PPP1R12C c.585A>T p.Glu195Asp Missense 4/22 -
5-177863083-T-C COL23A1 c.361+124600A>G - IntronicSNV - 2/28
Y-14851554-T-A USP9Y c.1413T>A p.Asp471Glu Missense 12/46 -
4-46329655-A-T GABRA2 c.255+4977T>A - IntronicSNV - 4/9
Y-15027529-T-G DDX3Y c.1020-13T>G - IntronicSNV - 10/16
6-163221792-T-C PACRG c.157-13387T>C - IntronicSNV - 2/6
Y-2734854-C-T RPS4Y1 c.711C>T p.Ser237Ser Synonymous 7/7 -
2-109513601-A-G EDAR c.1109T>C p.Val370Ala Missense 12/12 -
3-39146429-T-C GORASP1 c.64-1385A>G - IntronicSNV - 1/8
7-151873853-C-T KMT2C c.8685G>A p.Gln2895Gln Synonymous 38/59 -
17-77468498-T-C RBFOX3 c.-175+10038A>G - intron_variant - 2/14
14-20818131-T-C PARP2 c.325-554T>C - IntronicSNV - 4/15
17-2919393-A-G RAP1GAP2 c.1450-1962A>G - IntronicSNV - 16/23
3-121364173-A-T HCLS1 c.289-398T>A - IntronicSNV - 4/13
7-73454199-G-A ELN c.197-1347G>A - IntronicSNV - 4/32
17-2919393-A-C RAP1GAP2 c.1450-1962A>C - IntronicSNV - 16/23
2-17901485-G-A SMC6 c.945+722C>T - IntronicSNV - 10/26
11-120644447-A-C GRIK4 c.83-28955A>C - IntronicSNV - 3/20
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-10975311-T-G CIITA c.52+4072T>G - IntronicSNV - 1/19
1-186149032-G-A HMCN1 c.16294+1134G>A - IntronicSNV - 104/106
13-100038233-A-G UBAC2 c.*644A>G - 3-UTRSNV 7/7 -
19-55614923-T-C PPP1R12C c.585A>G p.Glu195Glu Synonymous 4/22 -
9-71659280-C-T FXN c.166-2021C>T - IntronicSNV - 1/4
10-50841704-C-T CHAT c.1111+5873C>T - IntronicSNV - 7/14
2-182413259-A-G CERKL c.1211+13T>C - IntronicSNV - 9/13
9-27985938-C-G LINGO2 c.-36+26415G>C - intron_variant - 6/6
3-135914476-G-A MSL2 c.1-521C>T - 5-UTRSNV 1/2 -
8-28941305-C-T KIF13B c.4459-8445G>A - IntronicSNV - 37/39
5-159487953-G-A TTC1 c.746-3986G>A - IntronicSNV - 7/7
8-139399116-C-T FAM135B c.1-18890G>A - IntronicSNV - 1/19
18-9749879-G-A RAB31 c.40-25396G>A - IntronicSNV - 1/6
7-139447377-A-C HIPK2 c.19+30027T>G - intron_variant - 1/14
9-135933122-C-T GTF3C5 c.1415-79C>T - IntronicSNV - 11/11
Y-15026424-A-C DDX3Y c.674-52A>C - IntronicSNV - 7/16
19-33652247-C-T WDR88 c.1080+845C>T - IntronicSNV - 8/10
19-33652247-C-A WDR88 c.1080+845C>A - IntronicSNV - 8/10
5-79085726-A-G CMYA5 c.11689+799A>G - IntronicSNV - 10/12
12-56163734-G-A SARNP c.502-9310C>T - IntronicSNV - 9/10
3-188574996-G-A LPP c.1411-8992G>A - IntronicSNV - 8/10
4-41554364-G-A LIMCH1 c.237+27869G>A - IntronicSNV - 3/26
1-239881926-A-T CHRM3 c.-147+40338A>T - intron_variant - 3/4
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
Y-21867787-A-G KDM5D c.*94T>C - 3-UTRSNV 27/27 -
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
Y-14821267-T-C USP9Y c.1-114T>C - IntronicSNV - 1/45
4-73245191-T-C ADAMTS3 c.661+35341A>G - IntronicSNV - 4/21
3-121459589-G-A GOLGB1 c.-3+8890C>T - intron_variant - 1/21
10-115316812-T-C HABP2 c.69+3863T>C - IntronicSNV - 1/12
Y-21894058-T-C KDM5D c.1093-7A>G - IntronicSNV - 9/26
4-73245191-T-A ADAMTS3 c.661+35341A>T - IntronicSNV - 4/21
5-136633338-G-A SPOCK1 c.187-30594C>T - IntronicSNV - 2/10
8-31896592-T-C NRG1 c.37+399645T>C - IntronicSNV - 1/11
6-12059954-G-A HIVEP1 c.41-29463G>A - IntronicSNV - 2/8
1-55663372-A-G USP24 c.324+17091T>C - IntronicSNV - 1/67
6-90518278-G-A MDN1 c.103-5005C>T - IntronicSNV - 1/101
10-17193346-A-G TRDMT1 c.1075+2160T>C - IntronicSNV - 10/10
5-178690725-G-A ADAMTS2 c.688+9187C>T - IntronicSNV - 3/21
14-105679055-A-G BRF1 c.1773-554T>C - IntronicSNV - 15/17
14-53216723-G-C STYX c.145-678G>C - IntronicSNV - 3/10
9-120130206-T-C ASTN2 c.442+46569A>G - IntronicSNV - 1/21
11-115207176-C-T CADM1 c.125-96036G>A - IntronicSNV - 1/9
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
17-1401613-A-C INPP5K c.777-197T>G - IntronicSNV - 7/11
17-1401613-A-T INPP5K c.777-197T>A - IntronicSNV - 7/11
8-110602317-G-T SYBU c.425-3926C>A - IntronicSNV - 5/8
19-52905163-G-A ZNF528 c.1-104G>A - IntronicSNV - 2/6
22-18076546-C-A ATP6V1E1 c.618+749G>T - IntronicSNV - 8/8
8-4190793-C-T CSMD1 c.415+86682G>A - IntronicSNV - 3/69
1-212786883-T-C ATF3 c.1-1481T>C - IntronicSNV - 1/3
3-39146429-T-G GORASP1 c.64-1385A>C - IntronicSNV - 1/8
2-136707982-T-A DARS c.321-6932A>T - IntronicSNV - 4/15
16-89730827-T-G SPATA33 c.209-4867T>G - IntronicSNV - 2/2
16-89730827-T-C SPATA33 c.209-4867T>C - IntronicSNV - 2/2
2-109579738-C-A EDAR c.-19+25678G>T - intron_variant - 1/11
8-4190793-C-A CSMD1 c.415+86682G>T - IntronicSNV - 3/69
6-136482727-A-G PDE7B c.711+5831A>G - IntronicSNV - 8/12
1-6550376-T-C PLEKHG5 c.-88+1321A>G - intron_variant - 1/20
Y-22739301-A-G EIF1AY c.16+1528A>G - IntronicSNV - 1/6
15-28197037-T-A OCA2 c.1844A>T p.His615Leu Missense 18/24 -
9-12709305-C-A TYRP1 c.*123C>A - 3-UTRSNV 8/8 -
13-75993887-T-C TBC1D4 c.499-57144A>G - IntronicSNV - 1/20
Y-14898163-G-A USP9Y c.3178G>A p.Ala1060Thr Missense 23/46 -
2-179606538-G-A TTN c.10361-3451C>T - IntronicSNV - 45/311
9-28628500-T-C LINGO2 c.-365+41698A>G - intron_variant - 2/6
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
2-79864923-T-G CTNNA2 c.1-13760T>G - IntronicSNV - 1/17
3-193207380-T-A ATP13A4 c.738+139A>T - IntronicSNV - 7/29
Y-15581983-G-A UTY c.325+18C>T - IntronicSNV - 3/19
1-160786670-A-G LY9 c.1342+17A>G - IntronicSNV - 5/9
12-112211833-T-C ALDH2 c.114+6933T>C - IntronicSNV - 1/12
13-111827167-T-C ARHGEF7 c.315+15731T>C - IntronicSNV - 3/19
13-111827167-T-A ARHGEF7 c.315+15731T>A - IntronicSNV - 3/19
6-152697706-C-A SYNE1 c.9147-13G>T - IntronicSNV - 57/145
8-28411072-T-A FZD3 c.1553+1804T>A - IntronicSNV - 5/6
8-28411072-T-C FZD3 c.1553+1804T>C - IntronicSNV - 5/6
2-158667217-T-C ACVR1 c.-8+7680A>G - intron_variant - 2/10
2-136707982-T-C DARS c.321-6932A>G - IntronicSNV - 4/15
9-127267689-A-G NR5A1 c.-16+1839T>C - intron_variant - 1/6
Y-15469724-G-A UTY c.1278+33C>T - IntronicSNV - 13/19
12-56163734-G-C SARNP c.502-9310C>G - IntronicSNV - 9/10
8-13359500-A-G DLC1 c.1-1920T>C - IntronicSNV - 1/17
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
3-113804979-G-A QTRT2 c.*228G>A - 3-UTRSNV 10/10 -
11-113296286-C-T DRD2 c.1-913G>A - IntronicSNV - 1/7
10-75300994-G-A USP54 c.825+139C>T - IntronicSNV - 7/21
20-15124933-G-C MACROD2 c.419-85653G>C - IntronicSNV - 5/16
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
20-15124933-G-T MACROD2 c.419-85653G>T - IntronicSNV - 5/16
9-93641199-T-C SYK c.1476T>C p.Leu492Leu Synonymous 10/13 -
1-42360270-G-A HIVEP3 c.-801+23814C>T - intron_variant - 1/8
5-35037115-C-T AGXT2 c.418G>A p.Val140Ile Missense 4/14 -
18-40488279-G-T RIT2 c.426+15258C>A - IntronicSNV - 4/4
1-168159890-G-A TIPRL c.385-717G>A - IntronicSNV - 3/6
12-6945914-C-A P3H3 c.1456-235C>A - intron_variant - 10/15
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
10-134650103-C-T CFAP46 c.6536+218G>A - IntronicSNV - 45/57
3-79399575-T-C ROBO1 c.89-224886A>G - IntronicSNV - 2/30
17-80765788-T-C TBCD c.1148+244T>C - IntronicSNV - 11/38
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
18-67867663-G-A RTTN c.488-923C>T - IntronicSNV - 4/48
11-115207176-C-G CADM1 c.125-96036G>C - IntronicSNV - 1/9
20-33218090-G-A PIGU c.529+4329C>T - IntronicSNV - 6/11
6-152697706-C-T SYNE1 c.9147-13G>A - IntronicSNV - 57/145
6-145055331-G-A UTRN c.7939+3709G>A - IntronicSNV - 53/73
Y-14954280-T-C USP9Y c.6327T>C p.Pro2109Pro Synonymous 38/46 -
17-73782191-T-C UNK c.104+1126T>C - IntronicSNV - 1/15
17-41056245-A-G G6PC c.340+188A>G - IntronicSNV - 2/4
12-6945914-C-G P3H3 c.1456-235C>G - intron_variant - 10/15
4-5390637-A-C STK32B c.435-9297A>C - IntronicSNV - 4/11
Y-14851554-T-C USP9Y c.1413T>C p.Asp471Asp Synonymous 12/46 -
9-27985938-C-T LINGO2 c.-36+26415G>A - intron_variant - 6/6
17-40658533-C-T ATP6V0A1 c.2026-1005C>T - IntronicSNV - 17/20
18-67578931-T-C CD226 c.383-15650A>G - IntronicSNV - 3/6
7-28172586-T-C JAZF1 c.115+47496A>G - IntronicSNV - 1/4
12-888320-G-A WNK1 c.759+24830G>A - IntronicSNV - 1/27
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
4-169663615-T-G PALLD c.1964+30541T>G - IntronicSNV - 10/20
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
1-239881926-A-G CHRM3 c.-147+40338A>G - intron_variant - 3/4
Y-15018582-C-T DDX3Y c.46-866C>T - IntronicSNV - 1/16
3-193207380-T-C ATP13A4 c.738+139A>G - IntronicSNV - 7/29
12-109277720-G-A DAO c.1-1063G>A - IntronicSNV - 1/10
14-92801203-G-A SLC24A4 c.241+8881G>A - IntronicSNV - 2/16
13-49070512-G-C RCBTB2 c.1385-55C>G - IntronicSNV - 13/14
14-53216723-G-T STYX c.145-678G>T - IntronicSNV - 3/10
18-55225777-T-C FECH c.804+600A>G - IntronicSNV - 7/10
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -