# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 270 NC_000001.10:g.115215612T>C;NG_008012.1:g.27565A>G;NM_000036.2:c.*123A>G;NM_001172626.1:c.*123A>G 454333732 190613852 20101123_snps_500962_chr1_115215612 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115215634A>G;NG_008012.1:g.27543T>C;NM_000036.2:c.*101T>C;NM_001172626.1:c.*101T>C 454333733 182475100 20101123_snps_500963_chr1_115215634 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 9892906 6697757 chr1.NT_019273.15_5651444 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 75036409 6697757 ILMN_Human_1M_rs6697757 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 119521519 6697757 KHS1683766 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 160799320 6697757 HumanOmni1-Quad_v1-0_B_rs6697757-128_B_R_1514011560 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 174074032 6697757 Human1M-Duov3_B_rs6697757-128_B_R_1514011560 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 481321640 6697757 HumanOmni2.5-4v1_B_rs6697757-128_B_R_1673421919 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 481346797 6697757 HumanOmniExpress-12v1_C_rs6697757-131_B_R_1857024882 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 482328177 6697757 HumanOmni1-Quad_v1-0_C_rs6697757-131_B_R_1857024882 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115215640C>A;NG_008012.1:g.27537G>T;NM_000036.2:c.*95G>T;NM_001172626.1:c.*95G>T 485455952 6697757 HumanOmni2.5-4v1_D_rs6697757-131_B_R_1857024882 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115215662A>G;NG_008012.1:g.27515T>C;NM_000036.2:c.*73T>C;NM_001172626.1:c.*73T>C 210622877 114069668 YRI.trio.3.2010_59411_chr1_115017185 6.00e-03 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115215662A>G;NG_008012.1:g.27515T>C;NM_000036.2:c.*73T>C;NM_001172626.1:c.*73T>C 328871233 114069668 20100804_snps_514769_chr1_115215662 6.00e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115215776C>T;NG_008012.1:g.27401G>A;NM_000036.2:c.2302G>A;NM_001172626.1:c.2290G>A;NP_000027.2:p.Glu768Lys;NP_001166097.1:p.Glu764Lys 341983517 138460726 ESP2500-chr1-115215776 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115215794A>C;NG_008012.1:g.27383T>G;NM_000036.2:c.2284T>G;NM_001172626.1:c.2272T>G;NP_000027.2:p.Tyr762Asp;NP_001166097.1:p.Tyr758Asp 341983519 144543642 ESP2500-chr1-115215794 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115215796C>T;NG_008012.1:g.27381G>A;NM_000036.2:c.2282G>A;NM_001172626.1:c.2270G>A;NP_000027.2:p.Arg761His;NP_001166097.1:p.Arg757His 341983521 142643298 ESP2500-chr1-115215796 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115215796C>T;NG_008012.1:g.27381G>A;NM_000036.2:c.2282G>A;NM_001172626.1:c.2270G>A;NP_000027.2:p.Arg761His;NP_001166097.1:p.Arg757His 491298717 142643298 nonsyn_14944_chr_1_115215796 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115215808C>A;NG_008012.1:g.27369G>T;NM_000036.2:c.2270G>T;NM_001172626.1:c.2258G>T;NP_000027.2:p.Arg757Leu;NP_001166097.1:p.Arg753Leu 341983522 146036570 ESP2500-chr1-115215808 5.00e-04 2011.03.25 2011.03.25 2011.05.09 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115215808C>A;NG_008012.1:g.27369G>T;NM_000036.2:c.2270G>T;NM_001172626.1:c.2258G>T;NP_000027.2:p.Arg757Leu;NP_001166097.1:p.Arg753Leu 454333734 146036570 20101123_snps_500964_chr1_115215808 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 NHLBI-ESP 270 NC_000001.10:g.115215833G>A;NG_008012.1:g.27344C>T;NM_000036.2:c.2245C>T;NM_001172626.1:c.2233C>T;NP_000027.2:p.Arg749Trp;NP_001166097.1:p.Arg745Trp 341983524 143596876 ESP2500-chr1-115215833 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115215833G>A;NG_008012.1:g.27344C>T;NM_000036.2:c.2245C>T;NM_001172626.1:c.2233C>T;NP_000027.2:p.Arg749Trp;NP_001166097.1:p.Arg745Trp 491298718 143596876 nonsyn_14945_chr_1_115215833 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115215962C>T;NG_008012.1:g.27215G>A;NM_000036.2:c.2185-69G>A;NM_001172626.1:c.2173-69G>A 328871234 149414790 20100804_snps_514770_chr1_115215962 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115216055G>A;NG_008012.1:g.27122C>T;NM_000036.2:c.2185-162C>T;NM_001172626.1:c.2173-162C>T 328871235 144784409 20100804_snps_514771_chr1_115216055 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCMHGSC_JDW 270 NC_000001.10:g.115216141A>G;NG_008012.1:g.27036T>C;NM_000036.2:c.2184+119T>C;NM_001172626.1:c.2172+119T>C 87730601 61811031 JWB-2735529 2008.02.26 2008.02.26 2008.03.24 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115216141A>G;NG_008012.1:g.27036T>C;NM_000036.2:c.2184+119T>C;NM_001172626.1:c.2172+119T>C 138064391 61811031 ENSSNP6863230 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 NHLBI-ESP 270 NC_000001.10:g.115216359C>T;NG_008012.1:g.26818G>A;NM_000036.2:c.2085G>A;NM_001172626.1:c.2073G>A;NP_000027.2:p.Met695Ile;NP_001166097.1:p.Met691Ile 341983526 115092288 ESP2500-chr1-115216359 2011.03.25 2011.03.25 2010.07.14 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115216359C>T;NG_008012.1:g.26818G>A;NM_000036.2:c.2085G>A;NM_001172626.1:c.2073G>A;NP_000027.2:p.Met695Ile;NP_001166097.1:p.Met691Ile 491298719 115092288 nonsyn_14946_chr_1_115216359 2012.03.05 2012.03.05 2010.07.14 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115216359C>T;NG_008012.1:g.26818G>A;NM_000036.2:c.2085G>A;NM_001172626.1:c.2073G>A;NP_000027.2:p.Met695Ile;NP_001166097.1:p.Met691Ile 491600793 115092288 SNV-chr1-115017882 2012.03.06 2012.03.12 2010.07.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216382T>A;NG_008012.1:g.26795A>T;NM_000036.2:c.2074-12A>T;NM_001172626.1:c.2062-12A>T 454333735 189530823 20101123_snps_500965_chr1_115216382 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115216393A>T;NG_008012.1:g.26784T>A;NM_000036.2:c.2074-23T>A;NM_001172626.1:c.2062-23T>A 328871236 148592763 20100804_snps_514772_chr1_115216393 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 270 NC_000001.10:g.115216410delA;NC_000001.10:g.115216410delAinsAATA;NG_008012.1:g.26767delT;NG_008012.1:g.26767delTinsTATT;NM_000036.2:c.2074-40delT;NM_000036.2:c.2074-40delTinsTATT;NM_001172626.1:c.2062-40delT;NM_001172626.1:c.2062-40delTinsTATT 193122973 112409304 BUSHMAN-chr1-115017932-115017936 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 BUSHMAN 270 NC_000001.10:g.115216477G>A;NG_008012.1:g.26700C>T;NM_000036.2:c.2073+53C>T;NM_001172626.1:c.2061+53C>T 198961390 111657846 BUSHMAN-chr1-115017999 6.00e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216477G>A;NG_008012.1:g.26700C>T;NM_000036.2:c.2073+53C>T;NM_001172626.1:c.2061+53C>T 210622880 111657846 YRI.trio.3.2010_59412_chr1_115018000 6.00e-03 2010.03.29 2010.03.29 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216477G>A;NG_008012.1:g.26700C>T;NM_000036.2:c.2073+53C>T;NM_001172626.1:c.2061+53C>T 218609387 111657846 pilot_1_YRI_419070_chr1_115018000 6.00e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216477G>A;NG_008012.1:g.26700C>T;NM_000036.2:c.2073+53C>T;NM_001172626.1:c.2061+53C>T 230700981 111657846 pilot_1_CEU_305610_chr1_115018000 6.00e-03 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115216529C>T;NG_008012.1:g.26648G>A;NM_000036.2:c.2073+1G>A;NM_001172626.1:c.2061+1G>A 341983528 145328844 ESP2500-chr1-115216529 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115216529C>T;NG_008012.1:g.26648G>A;NM_000036.2:c.2073+1G>A;NM_001172626.1:c.2061+1G>A 491298720 145328844 splice_14947_chr_1_115216529 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115216533G>C;NG_008012.1:g.26644C>G;NM_000036.2:c.2070C>G;NM_001172626.1:c.2058C>G;NP_000027.2:p.Thr690=;NP_001166097.1:p.Thr686= 341983530 144894253 ESP2500-chr1-115216533 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 APPLERA_GI 270 NC_000001.10:g.115216557A>G;NG_008012.1:g.26620T>C;NM_000036.2:c.2046T>C;NM_001172626.1:c.2034T>C;NP_000027.2:p.Asp682=;NP_001166097.1:p.Asp678= 48431006 34287100 hCV25953225 3.20e-03 2005.11.30 2005.11.30 2006.03.13 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115216557A>G;NG_008012.1:g.26620T>C;NM_000036.2:c.2046T>C;NM_001172626.1:c.2034T>C;NP_000027.2:p.Asp682=;NP_001166097.1:p.Asp678= 328871237 34287100 20100804_snps_514773_chr1_115216557 3.20e-03 2011.03.22 2011.03.22 2006.03.13 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115216557A>G;NG_008012.1:g.26620T>C;NM_000036.2:c.2046T>C;NM_001172626.1:c.2034T>C;NP_000027.2:p.Asp682=;NP_001166097.1:p.Asp678= 341983533 34287100 ESP2500-chr1-115216557 3.20e-03 2011.03.25 2011.03.25 2006.03.13 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115216573A>T;NG_008012.1:g.26604T>A;NM_000036.2:c.2030T>A;NM_001172626.1:c.2018T>A;NP_000027.2:p.Ile677Asn;NP_001166097.1:p.Ile673Asn 454333736 182610890 20101123_snps_500966_chr1_115216573 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 APPLERA_GI 270 NC_000001.10:g.115216593G>A;NG_008012.1:g.26584C>T;NM_000036.2:c.2010C>T;NM_001172626.1:c.1998C>T;NP_000027.2:p.Phe670=;NP_001166097.1:p.Phe666= 48429338 34778674 hCV25953762 4.10e-03 2005.11.30 2005.11.30 2006.03.14 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115216593G>A;NG_008012.1:g.26584C>T;NM_000036.2:c.2010C>T;NM_001172626.1:c.1998C>T;NP_000027.2:p.Phe670=;NP_001166097.1:p.Phe666= 328871238 34778674 20100804_snps_514774_chr1_115216593 4.10e-03 2011.03.22 2011.03.22 2006.03.14 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115216593G>A;NG_008012.1:g.26584C>T;NM_000036.2:c.2010C>T;NM_001172626.1:c.1998C>T;NP_000027.2:p.Phe670=;NP_001166097.1:p.Phe666= 341983535 34778674 ESP2500-chr1-115216593 4.10e-03 2011.03.25 2011.03.25 2006.03.14 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115216658C>T;NG_008012.1:g.26519G>A;NM_000036.2:c.1945G>A;NM_001172626.1:c.1933G>A;NP_000027.2:p.Ala649Thr;NP_001166097.1:p.Ala645Thr 341983537 138019598 ESP2500-chr1-115216658 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 APPLERA_GI 270 NC_000001.10:g.115216659G>A;NG_008012.1:g.26518C>T;NM_000036.2:c.1944C>T;NM_001172626.1:c.1932C>T;NP_000027.2:p.Ile648=;NP_001166097.1:p.Ile644= 48429339 34257411 hCV25953894 4.10e-03 2005.11.30 2005.11.30 2006.03.13 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115216659G>A;NG_008012.1:g.26518C>T;NM_000036.2:c.1944C>T;NM_001172626.1:c.1932C>T;NP_000027.2:p.Ile648=;NP_001166097.1:p.Ile644= 328871239 34257411 20100804_snps_514775_chr1_115216659 4.10e-03 2011.03.22 2011.03.22 2006.03.13 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115216659G>A;NG_008012.1:g.26518C>T;NM_000036.2:c.1944C>T;NM_001172626.1:c.1932C>T;NP_000027.2:p.Ile648=;NP_001166097.1:p.Ile644= 341983540 34257411 ESP2500-chr1-115216659 4.10e-03 2011.03.25 2011.03.25 2006.03.13 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115216685A>G;NG_008012.1:g.26492T>C;NM_000036.2:c.1918T>C;NM_001172626.1:c.1906T>C;NP_000027.2:p.Leu640=;NP_001166097.1:p.Leu636= 341983541 141900642 ESP2500-chr1-115216685 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115216698G>A;NC_000001.10:g.115216698G>C;NG_008012.1:g.26479C>G;NG_008012.1:g.26479C>T;NM_000036.2:c.1905C>G;NM_000036.2:c.1905C>T;NM_001172626.1:c.1893C>G;NM_001172626.1:c.1893C>T;NP_000027.2:p.Pro635=;NP_001166097.1:p.Pro631= 341983543 148515775 ESP2500-chr1-115216698 1.40e-03 2011.03.25 2011.03.25 2011.05.09 2012.05.16 137 1000GENOMES 270 NC_000001.10:g.115216698G>A;NC_000001.10:g.115216698G>C;NG_008012.1:g.26479C>G;NG_008012.1:g.26479C>T;NM_000036.2:c.1905C>G;NM_000036.2:c.1905C>T;NM_001172626.1:c.1893C>G;NM_001172626.1:c.1893C>T;NP_000027.2:p.Pro635=;NP_001166097.1:p.Pro631= 454333737 148515775 20101123_snps_500967_chr1_115216698 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.05.16 137 1000GENOMES 270 NC_000001.10:g.115216802A>G;NG_008012.1:g.26375T>C;NM_000036.2:c.1900-99T>C;NM_001172626.1:c.1888-99T>C 454333738 193120172 20101123_snps_500968_chr1_115216802 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 270 NC_000001.10:g.115216803C>A;NG_008012.1:g.26374G>T;NM_000036.2:c.1900-100G>T;NM_001172626.1:c.1888-100G>T 9900249 6701394 chr1.NT_019273.15_5652607 2.70e-02 2003.06.28 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115216803C>A;NG_008012.1:g.26374G>T;NM_000036.2:c.1900-100G>T;NM_001172626.1:c.1888-100G>T 218609388 6701394 pilot_1_YRI_419071_chr1_115018326 2.70e-02 2010.04.22 2010.04.22 2003.07.11 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115216848G>A;NG_008012.1:g.26329C>T;NM_000036.2:c.1900-145C>T;NM_001172626.1:c.1888-145C>T 454333739 185788553 20101123_snps_500969_chr1_115216848 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115216856T>C;NG_008012.1:g.26321A>G;NM_000036.2:c.1900-153A>G;NM_001172626.1:c.1888-153A>G 454333740 187456398 20101123_snps_500970_chr1_115216856 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 9900305 6701427 chr1.NT_019273.15_5652690 2.02e-01 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 20515885 6701427 WGSA-200403-chr1.chr1.NT_019273.16_6212834 2.02e-01 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 ABI 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 41311338 6701427 hCV30011742 2.02e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 77323305 6701427 Cor12156_SNV_20070510.chr1_114928928 2.02e-01 2007.10.10 2007.10.12 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 82610246 6701427 Cor18956_SNV_20070510.chr1_114928928 2.02e-01 2007.12.03 2007.12.03 2003.07.11 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 87730605 6701427 JWB-0108790 2.02e-01 2008.02.26 2008.02.26 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 97969161 6701427 1103675202573 2.02e-01 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 106596534 6701427 BGI_rs6701427 2.02e-01 2008.09.17 2009.06.16 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 108541022 6701427 CEU.trio.12.15.2008_148139_chr1_115018409 2.02e-01 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 111044729 6701427 NA19240_2008_12_16_135326_chr1_115018409 2.02e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 118985561 6701427 NA18507_000134292_NCBI36.1_chr1_115018409 2.02e-01 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 138064392 6701427 ENSSNP11611740 2.02e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 139270213 6701427 ENSSNP20409 2.02e-01 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 155559890 6701427 GMI_SNP_133561552 2.02e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 163941780 6701427 NA19240_36_chr1_115018409 2.02e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 165070063 6701427 NA07022_36_chr1_115018409 2.02e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 198961394 6701427 BUSHMAN-chr1-115018408 2.02e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 205287896 6701427 BCM_CMT_1011-123518 2.02e-01 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 218609389 6701427 pilot_1_YRI_419072_chr1_115018409 2.02e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 230700982 6701427 pilot_1_CEU_305611_chr1_115018409 2.02e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 238356365 6701427 pilot_1_CHB+JPT_241442_chr1_115018409 2.02e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 275986629 6701427 GMI_AK_SNP_306792 2.02e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 270 NC_000001.10:g.115216886C>T;NG_008012.1:g.26291G>A;NM_000036.2:c.1900-183G>A;NM_001172626.1:c.1888-183G>A 290603368 6701427 SNP_109726_chr1_115018409 2.02e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115216891G>T;NG_008012.1:g.26286C>A;NM_000036.2:c.1900-188C>A;NM_001172626.1:c.1888-188C>A 118985565 74113504 NA18507_000134293_NCBI36.1_chr1_115018414 4.08e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 GMI 270 NC_000001.10:g.115216891G>T;NG_008012.1:g.26286C>A;NM_000036.2:c.1900-188C>A;NM_001172626.1:c.1888-188C>A 155559899 74113504 GMI_SNP_133365422 4.08e-02 2009.06.24 2009.06.24 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216891G>T;NG_008012.1:g.26286C>A;NM_000036.2:c.1900-188C>A;NM_001172626.1:c.1888-188C>A 218609390 74113504 pilot_1_YRI_419073_chr1_115018414 4.08e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216891G>T;NG_008012.1:g.26286C>A;NM_000036.2:c.1900-188C>A;NM_001172626.1:c.1888-188C>A 230700983 74113504 pilot_1_CEU_305612_chr1_115018414 4.08e-02 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 GMI 270 NC_000001.10:g.115216891G>T;NG_008012.1:g.26286C>A;NM_000036.2:c.1900-188C>A;NM_001172626.1:c.1888-188C>A 275986630 74113504 GMI_AK_SNP_306793 4.08e-02 2010.12.16 2010.12.16 2009.02.15 2012.11.28 137 GMI 270 NC_000001.10:g.115216928T>A;NG_008012.1:g.26249A>T;NM_000036.2:c.1900-225A>T;NM_001172626.1:c.1888-225A>T 275986631 143963479 GMI_AK_SNP_306794 3.20e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115216928T>A;NG_008012.1:g.26249A>T;NM_000036.2:c.1900-225A>T;NM_001172626.1:c.1888-225A>T 328871240 143963479 20100804_snps_514776_chr1_115216928 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115216969C>T;NG_008012.1:g.26208G>A;NM_000036.2:c.1900-266G>A;NM_001172626.1:c.1888-266G>A 118985568 74113507 NA18507_000134294_NCBI36.1_chr1_115018492 3.48e-02 2009.01.22 2009.01.22 2009.02.15 2011.09.09 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115216969C>T;NG_008012.1:g.26208G>A;NM_000036.2:c.1900-266G>A;NM_001172626.1:c.1888-266G>A 167025297 74113507 NA20431_36_chr1_115018492 3.48e-02 2009.09.30 2009.09.30 2009.02.15 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115216969C>T;NG_008012.1:g.26208G>A;NM_000036.2:c.1900-266G>A;NM_001172626.1:c.1888-266G>A 218609391 74113507 pilot_1_YRI_419074_chr1_115018492 3.48e-02 2010.04.22 2010.04.22 2009.02.15 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115216969C>T;NG_008012.1:g.26208G>A;NM_000036.2:c.1900-266G>A;NM_001172626.1:c.1888-266G>A 230700984 74113507 pilot_1_CEU_305613_chr1_115018492 3.48e-02 2010.05.01 2010.05.01 2009.02.15 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115216969C>T;NG_008012.1:g.26208G>A;NM_000036.2:c.1900-266G>A;NM_001172626.1:c.1888-266G>A 238356366 74113507 pilot_1_CHB+JPT_241443_chr1_115018492 3.48e-02 2010.05.01 2010.05.01 2009.02.15 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115217039C>A;NG_008012.1:g.26138G>T;NM_000036.2:c.1899+334G>T;NM_001172626.1:c.1887+334G>T 138064393 75515194 ENSSNP7000283 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115217040A>C;NG_008012.1:g.26137T>G;NM_000036.2:c.1899+333T>G;NM_001172626.1:c.1887+333T>G 138064394 76528866 ENSSNP11611742 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 BUSHMAN 270 NC_000001.10:g.115217141A>G;NG_008012.1:g.26036T>C;NM_000036.2:c.1899+232T>C;NM_001172626.1:c.1887+232T>C 198961398 111438322 BUSHMAN-chr1-115018663 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115217148A>G;NG_008012.1:g.26029T>C;NM_000036.2:c.1899+225T>C;NM_001172626.1:c.1887+225T>C 230700985 77981973 pilot_1_CEU_305614_chr1_115018671 1.01e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 BL 270 NC_000001.10:g.115217148A>G;NG_008012.1:g.26029T>C;NM_000036.2:c.1899+225T>C;NM_001172626.1:c.1887+225T>C 253401807 77981973 SNP120180_1_115018671 1.01e-02 2010.08.18 2010.08.18 2009.12.01 2011.07.08 137 BUSHMAN 270 NC_000001.10:g.115217339A>G;NG_008012.1:g.25838T>C;NM_000036.2:c.1899+34T>C;NM_001172626.1:c.1887+34T>C 198961401 111276096 BUSHMAN-chr1-115018861 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 EXOME_CHIP 270 NC_000001.10:g.115217379T>A;NG_008012.1:g.25798A>T;NM_000036.2:c.1893A>T;NM_001172626.1:c.1881A>T;NP_000027.2:p.Leu631Phe;NP_001166097.1:p.Leu627Phe 491298721 200717164 nonsyn_14948_chr_1_115217379 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115217379T>A;NG_008012.1:g.25798A>T;NM_000036.2:c.1893A>T;NM_001172626.1:c.1881A>T;NP_000027.2:p.Leu631Phe;NP_001166097.1:p.Leu627Phe 491600794 200717164 SNV-chr1-115018902 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115217452C>T;NG_008012.1:g.25725G>A;NM_000036.2:c.1820G>A;NM_001172626.1:c.1808G>A;NP_000027.2:p.Gly607Glu;NP_001166097.1:p.Gly603Glu 341983545 150645738 ESP2500-chr1-115217452 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115217452C>T;NG_008012.1:g.25725G>A;NM_000036.2:c.1820G>A;NM_001172626.1:c.1808G>A;NP_000027.2:p.Gly607Glu;NP_001166097.1:p.Gly603Glu 491298722 150645738 nonsyn_14949_chr_1_115217452 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115217470A>G;NG_008012.1:g.25707T>C;NM_000036.2:c.1802T>C;NM_001172626.1:c.1790T>C;NP_000027.2:p.Leu601Pro;NP_001166097.1:p.Leu597Pro 341983547 144825802 ESP2500-chr1-115217470 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115217522G>A;NG_008012.1:g.25655C>T;NM_000036.2:c.1779-29C>T;NM_001172626.1:c.1767-29C>T 454333741 192311271 20101123_snps_500971_chr1_115217522 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115217522G>A;NG_008012.1:g.25655C>T;NM_000036.2:c.1779-29C>T;NM_001172626.1:c.1767-29C>T 491600795 192311271 SNV-chr1-115019045 2.70e-03 2012.03.06 2012.03.12 2011.09.17 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 9856054 6679869 chr1.NT_019273.15_5653531 1.05e-01 2003.06.28 2004.10.21 2003.07.11 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 68778593 6679869 PGP13379276 1.05e-01 2007.01.30 2008.03.31 2003.07.11 2012.11.28 137 AFFY 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 76544970 6679869 AFFY_6_1M_SNP_A-8406109 1.05e-01 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 104929372 6679869 KHS1321695 1.05e-01 2008.07.10 2008.07.10 2003.07.11 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 198961405 6679869 BUSHMAN-chr1-115019249 1.05e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 218609392 6679869 pilot_1_YRI_419075_chr1_115019250 1.05e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 230700986 6679869 pilot_1_CEU_305615_chr1_115019250 1.05e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 238356367 6679869 pilot_1_CHB+JPT_241444_chr1_115019250 1.05e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 244305933 6679869 CVDSNP55v1_A_rs6679869 1.05e-01 2010.06.10 2010.06.10 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115217727G>C;NG_008012.1:g.25450C>G;NM_000036.2:c.1779-234C>G;NM_001172626.1:c.1767-234C>G 275986632 6679869 GMI_AK_SNP_306795 1.05e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217780T>A;NG_008012.1:g.25397A>T;NM_000036.2:c.1779-287A>T;NM_001172626.1:c.1767-287A>T 454333742 184150899 20101123_snps_500972_chr1_115217780 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 15389285 11102831 NT_019273.16_6213767 3.43e-02 2003.11.14 2006.10.25 2004.02.27 2012.11.28 137 SC_SNP 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 18186810 11102831 SC-CHR1_NA17109-200402.chr1.NT_019273.16_6213767 3.43e-02 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 75202119 11102831 ILMN_Human_1M_rs11102831 3.43e-02 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 AFFY 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 76832449 11102831 AFFY_6_1M_SNP_A-8693901 3.43e-02 2007.08.30 2007.08.30 2004.02.27 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 111044737 11102831 NA19240_2008_12_16_135327_chr1_115019342 3.43e-02 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 118985572 11102831 NA18507_000134295_NCBI36.1_chr1_115019342 3.43e-02 2009.01.22 2009.01.22 2004.02.27 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 119667695 11102831 KHS1801166 3.43e-02 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 159958190 11102831 HumanOmni1-Quad_v1-0_B_rs11102831-128_T_R_1514162969 3.43e-02 2009.08.04 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 163941789 11102831 NA19240_36_chr1_115019342 3.43e-02 2009.09.29 2009.09.29 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 171028103 11102831 Human1M-Duov3_B_rs11102831-128_T_R_1514162969 3.43e-02 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 198961410 11102831 BUSHMAN-chr1-115019341 3.43e-02 2010.03.06 2010.03.06 2004.02.27 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 218609393 11102831 pilot_1_YRI_419076_chr1_115019342 3.43e-02 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 244271576 11102831 CVDSNP55v1_A_rs11102831 3.43e-02 2010.06.10 2010.06.10 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 479462954 11102831 HumanOmni2.5-4v1_B_rs11102831-128_T_R_1673544782 3.43e-02 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 479466890 11102831 HumanOmniExpress-12v1_C_rs11102831-131_T_R_1857231063 3.43e-02 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 479898729 11102831 HumanOmni1-Quad_v1-0_C_rs11102831-131_T_R_1865438823 3.43e-02 2012.01.31 2012.01.31 2004.02.27 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115217819C>T;NG_008012.1:g.25358G>A;NM_000036.2:c.1779-326G>A;NM_001172626.1:c.1767-326G>A 484531174 11102831 HumanOmni2.5-4v1_D_rs11102831-131_T_R_1857231063 3.43e-02 2012.02.04 2012.02.04 2004.02.27 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115217895T>A;NG_008012.1:g.25282A>T;NM_000036.2:c.1778+256A>T;NM_001172626.1:c.1766+256A>T 198961414 112318898 BUSHMAN-chr1-115019417 3.20e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217895T>A;NG_008012.1:g.25282A>T;NM_000036.2:c.1778+256A>T;NM_001172626.1:c.1766+256A>T 328871241 112318898 20100804_snps_514777_chr1_115217895 3.20e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115217897G>A;NG_008012.1:g.25280C>T;NM_000036.2:c.1778+254C>T;NM_001172626.1:c.1766+254C>T 328871242 140777329 20100804_snps_514778_chr1_115217897 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115217929_115217930insA;NG_008012.1:g.25247_25248insT;NM_000036.2:c.1778+221_1778+222insT;NM_001172626.1:c.1766+221_1766+222insT 498977546 199829383 20110316_indels_chr1_115217929_115217930 2.24e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218001A>C;NG_008012.1:g.25176T>G;NM_000036.2:c.1778+150T>G;NM_001172626.1:c.1766+150T>G 328871243 149727363 20100804_snps_514779_chr1_115218001 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CLINSEQ_SNP 270 NC_000001.10:g.115218159G>C;NG_008012.1:g.25018C>G;NM_000036.2:c.1770C>G;NM_001172626.1:c.1758C>G;NP_000027.2:p.Ser590Arg;NP_001166097.1:p.Ser586Arg 491600796 200977333 SNV-chr1-115019682 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115218260A>T;NG_008012.1:g.24917T>A;NM_000036.2:c.1669T>A;NM_001172626.1:c.1657T>A;NP_000027.2:p.Ser557Thr;NP_001166097.1:p.Ser553Thr 341983549 140181682 ESP2500-chr1-115218260 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115218260A>T;NG_008012.1:g.24917T>A;NM_000036.2:c.1669T>A;NM_001172626.1:c.1657T>A;NP_000027.2:p.Ser557Thr;NP_001166097.1:p.Ser553Thr 491298723 140181682 nonsyn_14950_chr_1_115218260 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115218260A>T;NG_008012.1:g.24917T>A;NM_000036.2:c.1669T>A;NM_001172626.1:c.1657T>A;NP_000027.2:p.Ser557Thr;NP_001166097.1:p.Ser553Thr 491600797 140181682 SNV-chr1-115019783 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 YUSUKE 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 2984445 2070986 IMS-JST006129 2.24e-01 2001.05.24 2003.10.10 2001.06.15 2012.11.28 137 HGBASE 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 3186084 2070986 SNP000571668 2.24e-01 2001.07.09 2003.10.10 2001.06.15 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 9862389 2070986 chr1.NT_019273.15_5654217 2.24e-01 2003.06.28 2003.10.10 2001.06.15 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 13541169 2070986 chr1.NT_019273.16_6214361 2.24e-01 2003.11.05 2003.11.22 2001.06.15 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 35186500 2070986 TA-079.chr1_114930455 2.24e-01 2005.03.11 2001.06.15 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 46534372 2070986 PS00682731 2.24e-01 2005.08.01 2005.08.01 2001.06.15 2012.11.28 137 AFFY 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 66516476 2070986 SNP_A-4220574 2.24e-01 2006.10.29 2007.08.14 2001.06.15 2012.11.28 137 AFFY 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 76339184 2070986 AFFY_6_1M_SNP_A-4220574 2.24e-01 2007.08.30 2007.08.30 2001.06.15 2012.11.28 137 AFFY_GWHS 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 77105603 2070986 SNP_A-4220574 2.24e-01 2007.10.05 2007.10.05 2001.06.15 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 87730608 2070986 JWB-0108791 2.24e-01 2008.02.26 2008.02.26 2001.06.15 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 99242735 2070986 1103675202571 2.24e-01 2008.04.03 2008.04.03 2001.06.15 2012.11.28 137 BGI 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 102777127 2070986 BGI_rs2070986 2.24e-01 2008.06.04 2009.06.16 2001.06.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 111044745 2070986 NA19240_2008_12_16_135328_chr1_115019936 2.24e-01 2008.12.17 2008.12.17 2001.06.15 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 138064395 2070986 ENSSNP11611743 2.24e-01 2009.05.16 2009.05.16 2001.06.15 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 139430824 2070986 ENSSNP20410 2.24e-01 2009.05.19 2009.10.19 2001.06.15 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 160497725 2070986 HumanOmni1-Quad_v1-0_B_rs2070986-128_T_R_1562884993 2.24e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 163941799 2070986 NA19240_36_chr1_115019936 2.24e-01 2009.09.29 2009.09.29 2001.06.15 2012.11.28 137 AFFY 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 173312750 2070986 GenomeWideSNP_5_SNP_A-4220574 2.24e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 198961419 2070986 BUSHMAN-chr1-115019935 2.24e-01 2010.03.06 2010.03.06 2001.06.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 210461396 2070986 CEU.trio.3.2010_6606_chr1_115019936 2.24e-01 2010.03.29 2010.03.29 2001.06.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 218609394 2070986 pilot_1_YRI_419077_chr1_115019936 2.24e-01 2010.04.22 2010.04.22 2001.06.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 230700987 2070986 pilot_1_CEU_305616_chr1_115019936 2.24e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 238356368 2070986 pilot_1_CHB+JPT_241445_chr1_115019936 2.24e-01 2010.05.01 2010.05.01 2001.06.15 2012.11.28 137 GMI 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 275986633 2070986 GMI_AK_SNP_306796 2.24e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 PJP 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 290603369 2070986 SNP_109727_chr1_115019936 2.24e-01 2011.01.21 2011.01.21 2001.06.15 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 480409899 2070986 HumanOmni2.5-4v1_B_rs2070986-128_T_R_1562884993 2.24e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 480423204 2070986 HumanOmniExpress-12v1_C_rs2070986-128_T_R_1562884993 2.24e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 481205565 2070986 HumanOmni1-Quad_v1-0_C_rs2070986-128_T_R_1562884993 2.24e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 485002488 2070986 HumanOmni2.5-4v1_D_rs2070986-128_T_R_1562884993 2.24e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115218413G>A;NC_000001.10:g.115218413G>C;NG_008012.1:g.24764C>G;NG_008012.1:g.24764C>T;NM_000036.2:c.1614+85C>G;NM_000036.2:c.1614+85C>T;NM_001172626.1:c.1602+85C>G;NM_001172626.1:c.1602+85C>T 491600798 2070986 SNV-chr1-115019936 2.24e-01 2012.03.06 2012.03.12 2001.06.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218473T>C;NG_008012.1:g.24704A>G;NM_000036.2:c.1614+25A>G;NM_001172626.1:c.1602+25A>G 454333743 188698401 20101123_snps_500973_chr1_115218473 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115218540G>A;NG_008012.1:g.24637C>T;NM_000036.2:c.1572C>T;NM_001172626.1:c.1560C>T;NP_000027.2:p.Ile524=;NP_001166097.1:p.Ile520= 328871244 145557954 20100804_snps_514780_chr1_115218540 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SEATTLESEQ 270 NC_000001.10:g.115218549C>T;NG_008012.1:g.24628G>A;NM_000036.2:c.1563G>A;NM_001172626.1:c.1551G>A;NP_000027.2:p.Glu521=;NP_001166097.1:p.Glu517= 159698388 80266556 AMPD1-115020072 5.50e-03 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218549C>T;NG_008012.1:g.24628G>A;NM_000036.2:c.1563G>A;NM_001172626.1:c.1551G>A;NP_000027.2:p.Glu521=;NP_001166097.1:p.Glu517= 210622883 80266556 YRI.trio.3.2010_59413_chr1_115020072 5.50e-03 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218549C>T;NG_008012.1:g.24628G>A;NM_000036.2:c.1563G>A;NM_001172626.1:c.1551G>A;NP_000027.2:p.Glu521=;NP_001166097.1:p.Glu517= 328871245 80266556 20100804_snps_514781_chr1_115218549 5.50e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115218549C>T;NG_008012.1:g.24628G>A;NM_000036.2:c.1563G>A;NM_001172626.1:c.1551G>A;NP_000027.2:p.Glu521=;NP_001166097.1:p.Glu517= 341983552 80266556 ESP2500-chr1-115218549 5.50e-03 2011.03.25 2011.03.25 2009.12.01 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115218549C>T;NG_008012.1:g.24628G>A;NM_000036.2:c.1563G>A;NM_001172626.1:c.1551G>A;NP_000027.2:p.Glu521=;NP_001166097.1:p.Glu517= 491600799 80266556 SNV-chr1-115020072 5.50e-03 2012.03.06 2012.03.12 2009.12.01 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115218613C>T;NG_008012.1:g.24564G>A;NM_000036.2:c.1499G>A;NM_001172626.1:c.1487G>A;NP_000027.2:p.Arg500His;NP_001166097.1:p.Arg496His 341983555 140957303 ESP2500-chr1-115218613 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115218613C>T;NG_008012.1:g.24564G>A;NM_000036.2:c.1499G>A;NM_001172626.1:c.1487G>A;NP_000027.2:p.Arg500His;NP_001166097.1:p.Arg496His 491298724 140957303 nonsyn_14951_chr_1_115218613 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218674T>A;NG_008012.1:g.24503A>T;NM_000036.2:c.1488-50A>T;NM_001172626.1:c.1476-50A>T 454333744 180719432 20101123_snps_500974_chr1_115218674 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115218737T>A;NG_008012.1:g.24440A>T;NM_000036.2:c.1488-113A>T;NM_001172626.1:c.1476-113A>T 328871246 147015285 20100804_snps_514782_chr1_115218737 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115218740A>G;NG_008012.1:g.24437T>C;NM_000036.2:c.1488-116T>C;NM_001172626.1:c.1476-116T>C 328871247 138162100 20100804_snps_514783_chr1_115218740 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115218749C>T;NG_008012.1:g.24428G>A;NM_000036.2:c.1488-125G>A;NM_001172626.1:c.1476-125G>A 454333745 184420626 20101123_snps_500975_chr1_115218749 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115218781A>G;NG_008012.1:g.24396T>C;NM_000036.2:c.1488-157T>C;NM_001172626.1:c.1476-157T>C 230700988 77164715 pilot_1_CEU_305617_chr1_115020304 5.31e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115218781A>G;NG_008012.1:g.24396T>C;NM_000036.2:c.1488-157T>C;NM_001172626.1:c.1476-157T>C 275986634 77164715 GMI_AK_SNP_306797 5.31e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218862C>G;NG_008012.1:g.24315G>C;NM_000036.2:c.1488-238G>C;NM_001172626.1:c.1476-238G>C 454333746 190533946 20101123_snps_500976_chr1_115218862 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115218907G>A;NG_008012.1:g.24270C>T;NM_000036.2:c.1488-283C>T;NM_001172626.1:c.1476-283C>T 218609395 76710407 pilot_1_YRI_419078_chr1_115020430 5.54e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218907G>A;NG_008012.1:g.24270C>T;NM_000036.2:c.1488-283C>T;NM_001172626.1:c.1476-283C>T 230700989 76710407 pilot_1_CEU_305618_chr1_115020430 5.54e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115218907G>A;NG_008012.1:g.24270C>T;NM_000036.2:c.1488-283C>T;NM_001172626.1:c.1476-283C>T 275986635 76710407 GMI_AK_SNP_306798 5.54e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115218907G>A;NG_008012.1:g.24270C>T;NM_000036.2:c.1488-283C>T;NM_001172626.1:c.1476-283C>T 482079300 76710407 HumanOmni2.5-4v1_B_SNP1-115020430-0_T_F_1618289667 5.54e-02 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115218907G>A;NG_008012.1:g.24270C>T;NM_000036.2:c.1488-283C>T;NM_001172626.1:c.1476-283C>T 483404705 76710407 HumanOmni2.5-4v1_D_kgp4699211-0_T_F_1821432028 5.54e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115218931G>T;NG_008012.1:g.24246C>A;NM_000036.2:c.1488-307C>A;NM_001172626.1:c.1476-307C>A 454333747 182011970 20101123_snps_500977_chr1_115218931 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115218949A>G;NG_008012.1:g.24228T>C;NM_000036.2:c.1488-325T>C;NM_001172626.1:c.1476-325T>C 454333748 186407155 20101123_snps_500978_chr1_115218949 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 3202534 2268696 IMS-JST022618 4.72e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 9846230 2268696 chr1.NT_019273.15_5654887 4.72e-01 2003.06.28 2003.10.10 2001.09.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 87730612 2268696 JWB-0108792 4.72e-01 2008.02.26 2008.02.26 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 99242736 2268696 1103675202572 4.72e-01 2008.04.03 2008.04.03 2001.09.28 2012.11.28 137 BGI 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 106596535 2268696 BGI_rs2268696 4.72e-01 2008.09.17 2009.06.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 108541026 2268696 CEU.trio.12.15.2008_148140_chr1_115020606 4.72e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 138064396 2268696 ENSSNP11611744 4.72e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 143313838 2268696 ENSSNP5148878 4.72e-01 2009.06.06 2009.10.17 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 163941811 2268696 NA19240_36_chr1_115020606 4.72e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 198961421 2268696 BUSHMAN-chr1-115020605 4.72e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 205144208 2268696 BCM_CMT_1011-51970 4.72e-01 2010.03.15 2010.03.15 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 210622885 2268696 YRI.trio.3.2010_59414_chr1_115020606 4.72e-01 2010.03.29 2010.03.29 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 218609396 2268696 pilot_1_YRI_419079_chr1_115020606 4.72e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 230700990 2268696 pilot_1_CEU_305619_chr1_115020606 4.72e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 238356369 2268696 pilot_1_CHB+JPT_241446_chr1_115020606 4.72e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 275986636 2268696 GMI_AK_SNP_306799 4.72e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 270 NC_000001.10:g.115219083T>A;NG_008012.1:g.24094A>T;NM_000036.2:c.1488-459A>T;NM_001172626.1:c.1476-459A>T 290603370 2268696 SNP_109728_chr1_115020606 4.72e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 WI_SSAHASNP 270 NC_000001.10:g.115219166C>T;NG_008012.1:g.24011G>A;NM_000036.2:c.1488-542G>A;NM_001172626.1:c.1476-542G>A 11348100 7515356 chr1.NT_019273.15_5654970 1.88e-02 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115219166C>T;NG_008012.1:g.24011G>A;NM_000036.2:c.1488-542G>A;NM_001172626.1:c.1476-542G>A 17363120 7515356 CSHL-HuCC-200402.chr1.NT_019273.16_6215114 1.88e-02 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 ABI 270 NC_000001.10:g.115219166C>T;NG_008012.1:g.24011G>A;NM_000036.2:c.1488-542G>A;NM_001172626.1:c.1476-542G>A 41294308 7515356 hCV26680233 1.88e-02 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115219166C>T;NG_008012.1:g.24011G>A;NM_000036.2:c.1488-542G>A;NM_001172626.1:c.1476-542G>A 161161192 7515356 ENSSNP20412 1.88e-02 2009.09.24 2009.09.24 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219166C>T;NG_008012.1:g.24011G>A;NM_000036.2:c.1488-542G>A;NM_001172626.1:c.1476-542G>A 230700991 7515356 pilot_1_CEU_305620_chr1_115020689 1.88e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219185A>G;NG_008012.1:g.23992T>C;NM_000036.2:c.1488-561T>C;NM_001172626.1:c.1476-561T>C 454333749 190468053 20101123_snps_500979_chr1_115219185 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115219193G>A;NG_008012.1:g.23984C>T;NM_000036.2:c.1488-569C>T;NM_001172626.1:c.1476-569C>T 328871248 142345552 20100804_snps_514784_chr1_115219193 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115219252T>C;NG_008012.1:g.23925A>G;NM_000036.2:c.1488-628A>G;NM_001172626.1:c.1476-628A>G 454333750 181712640 20101123_snps_500980_chr1_115219252 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 11381753 7531877 chr1.NT_019273.15_5655121 1.88e-02 2003.07.03 2003.10.10 2003.07.11 2011.09.09 137 CSHL-HAPMAP 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 17344519 7531877 CSHL-HuCC-200402.chr1.NT_019273.16_6215265 1.88e-02 2004.02.19 2004.03.04 2003.07.11 2011.09.09 137 ABI 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 43873717 7531877 hCV26680262 1.88e-02 2005.07.18 2005.07.18 2003.07.11 2011.09.09 137 ILLUMINA 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 75067337 7531877 ILMN_Human_1M_rs7531877 1.88e-02 2007.08.29 2007.08.29 2003.07.11 2011.09.09 137 KRIBB_YJKIM 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 119556539 7531877 KHS1718786 1.88e-02 2009.02.05 2009.02.05 2003.07.11 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 161161194 7531877 ENSSNP20413 1.88e-02 2009.09.24 2010.03.07 2003.07.11 2011.09.09 137 ILLUMINA 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 174401870 7531877 Human1M-Duov3_B_rs7531877-128_T_R_1514051480 1.88e-02 2009.10.04 2009.10.04 2003.07.11 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115219317T>G;NG_008012.1:g.23860A>C;NM_000036.2:c.1487+655A>C;NM_001172626.1:c.1475+655A>C 230700992 7531877 pilot_1_CEU_305621_chr1_115020840 1.88e-02 2010.05.01 2010.05.01 2003.07.11 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115219359G>A;NG_008012.1:g.23818C>T;NM_000036.2:c.1487+613C>T;NM_001172626.1:c.1475+613C>T 454333751 185302692 20101123_snps_500981_chr1_115219359 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115219442_115219445delGAAA;NG_008012.1:g.23732_23735delTTTC;NM_000036.2:c.1487+527_1487+530delTTTC;NM_001172626.1:c.1475+527_1475+530delTTTC 498977550 200844805 20110316_indels_chr1_115219441_115219444 1.19e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219453C>T;NG_008012.1:g.23724G>A;NM_000036.2:c.1487+519G>A;NM_001172626.1:c.1475+519G>A 210622888 116050043 YRI.trio.3.2010_59415_chr1_115020976 0 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219453C>T;NG_008012.1:g.23724G>A;NM_000036.2:c.1487+519G>A;NM_001172626.1:c.1475+519G>A 218609397 116050043 pilot_1_YRI_419080_chr1_115020976 0 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115219475T>C;NG_008012.1:g.23702A>G;NM_000036.2:c.1487+497A>G;NM_001172626.1:c.1475+497A>G 198961425 112299499 BUSHMAN-chr1-115020997 2.06e-02 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219475T>C;NG_008012.1:g.23702A>G;NM_000036.2:c.1487+497A>G;NM_001172626.1:c.1475+497A>G 218609398 112299499 pilot_1_YRI_419081_chr1_115020998 2.06e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219546C>T;NG_008012.1:g.23631G>A;NM_000036.2:c.1487+426G>A;NM_001172626.1:c.1475+426G>A 328871249 146348018 20100804_snps_514785_chr1_115219546 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115219675G>A;NG_008012.1:g.23502C>T;NM_000036.2:c.1487+297C>T;NM_001172626.1:c.1475+297C>T 328871250 148337001 20100804_snps_514786_chr1_115219675 1.19e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115219729G>A;NG_008012.1:g.23448C>T;NM_000036.2:c.1487+243C>T;NM_001172626.1:c.1475+243C>T 218609399 74859180 pilot_1_YRI_419082_chr1_115021252 5.54e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219729G>A;NG_008012.1:g.23448C>T;NM_000036.2:c.1487+243C>T;NM_001172626.1:c.1475+243C>T 230700993 74859180 pilot_1_CEU_305622_chr1_115021252 5.54e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115219729G>A;NG_008012.1:g.23448C>T;NM_000036.2:c.1487+243C>T;NM_001172626.1:c.1475+243C>T 275986637 74859180 GMI_AK_SNP_306800 5.54e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219763G>T;NG_008012.1:g.23414C>A;NM_000036.2:c.1487+209C>A;NM_001172626.1:c.1475+209C>A 454333752 190160940 20101123_snps_500982_chr1_115219763 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115219822C>A;NG_008012.1:g.23355G>T;NM_000036.2:c.1487+150G>T;NM_001172626.1:c.1475+150G>T 328871251 141456731 20100804_snps_514787_chr1_115219822 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115219836C>G;NG_008012.1:g.23341G>C;NM_000036.2:c.1487+136G>C;NM_001172626.1:c.1475+136G>C 218609400 77720559 pilot_1_YRI_419083_chr1_115021359 5.54e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219836C>G;NG_008012.1:g.23341G>C;NM_000036.2:c.1487+136G>C;NM_001172626.1:c.1475+136G>C 230700994 77720559 pilot_1_CEU_305623_chr1_115021359 5.54e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115219836C>G;NG_008012.1:g.23341G>C;NM_000036.2:c.1487+136G>C;NM_001172626.1:c.1475+136G>C 275986638 77720559 GMI_AK_SNP_306801 5.54e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219844G>A;NG_008012.1:g.23333C>T;NM_000036.2:c.1487+128C>T;NM_001172626.1:c.1475+128C>T 218609401 78252530 pilot_1_YRI_419084_chr1_115021367 5.54e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219844G>A;NG_008012.1:g.23333C>T;NM_000036.2:c.1487+128C>T;NM_001172626.1:c.1475+128C>T 230700995 78252530 pilot_1_CEU_305624_chr1_115021367 5.54e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115219844G>A;NG_008012.1:g.23333C>T;NM_000036.2:c.1487+128C>T;NM_001172626.1:c.1475+128C>T 275986639 78252530 GMI_AK_SNP_306802 5.54e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115219993A>G;NG_008012.1:g.23184T>C;NM_000036.2:c.1466T>C;NM_001172626.1:c.1454T>C;NP_000027.2:p.Met489Thr;NP_001166097.1:p.Met485Thr 328871252 150886824 20100804_snps_514788_chr1_115219993 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115219994T>A;NG_008012.1:g.23183A>T;NM_000036.2:c.1465A>T;NM_001172626.1:c.1453A>T;NP_000027.2:p.Met489Leu;NP_001166097.1:p.Met485Leu 454333753 182702476 20101123_snps_500983_chr1_115219994 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 270 NC_000001.10:g.115220026C>T;NG_008012.1:g.23151G>A;NM_000036.2:c.1433G>A;NM_001172626.1:c.1421G>A;NP_000027.2:p.Cys478Tyr;NP_001166097.1:p.Cys474Tyr 341983557 138711341 ESP2500-chr1-115220026 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 CANCER-GENOME 270 NC_000001.10:g.115220068C>T;NG_008012.1:g.23109G>A;NM_000036.2:c.1391G>A;NM_001172626.1:c.1379G>A;NP_000027.2:p.Arg464His;NP_001166097.1:p.Arg460His 86348763 61757695 29572 2008.01.25 2008.01.25 2008.03.23 2011.07.08 137 OMIM-CURATED-RECORDS 270 NP_000027.2:p.ARG458HIS NC_000001.10:g.115220086C>T;NG_008012.1:g.23091G>A;NM_000036.2:c.1373G>A;NM_001172626.1:c.1361G>A;NP_000027.2:p.Arg458His;NP_001166097.1:p.Arg454His 275513855 121912682 114 9.00e-04 germline pathogenic 2010.11.22 2010.11.22 2010.11.22 2012.09.29 137 1000GENOMES 270 NC_000001.10:g.115220086C>T;NG_008012.1:g.23091G>A;NM_000036.2:c.1373G>A;NM_001172626.1:c.1361G>A;NP_000027.2:p.Arg458His;NP_001166097.1:p.Arg454His 328871253 121912682 20100804_snps_514789_chr1_115220086 9.00e-04 germline pathogenic 2011.03.22 2011.03.22 2010.11.22 2012.09.29 137 1000GENOMES 270 NC_000001.10:g.115220087G>A;NG_008012.1:g.23090C>T;NM_000036.2:c.1372C>T;NM_001172626.1:c.1360C>T;NP_000027.2:p.Arg458Cys;NP_001166097.1:p.Arg454Cys 454333754 187527797 20101123_snps_500984_chr1_115220087 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 270 NC_000001.10:g.115220124C>T;NG_008012.1:g.23053G>A;NM_000036.2:c.1335G>A;NM_001172626.1:c.1323G>A;NP_000027.2:p.Ala445=;NP_001166097.1:p.Ala441= 341983558 141829342 ESP2500-chr1-115220124 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115220128C>T;NG_008012.1:g.23049G>A;NM_000036.2:c.1331G>A;NM_001172626.1:c.1319G>A;NP_000027.2:p.Gly444Asp;NP_001166097.1:p.Gly440Asp 341983561 149565834 ESP2500-chr1-115220128 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115220136C>G;NG_008012.1:g.23041G>C;NM_000036.2:c.1324-1G>C;NM_001172626.1:c.1312-1G>C 341983562 144261778 ESP2500-chr1-115220136 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 BUSHMAN 270 NC_000001.10:g.115220297A>G;NG_008012.1:g.22880T>C;NM_000036.2:c.1324-162T>C;NM_001172626.1:c.1312-162T>C 198961430 111675911 BUSHMAN-chr1-115021819 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115220355T>C;NG_008012.1:g.22822A>G;NM_000036.2:c.1323+176A>G;NM_001172626.1:c.1311+176A>G 210622892 116342926 YRI.trio.3.2010_59416_chr1_115021878 9.20e-03 2010.03.29 2010.03.29 2010.07.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115220355T>C;NG_008012.1:g.22822A>G;NM_000036.2:c.1323+176A>G;NM_001172626.1:c.1311+176A>G 328871254 116342926 20100804_snps_514790_chr1_115220355 9.20e-03 2011.03.22 2011.03.22 2010.07.14 2012.11.28 137 ABI 270 NC_000001.10:g.115220416_115220419delCTCC;NG_008012.1:g.22758_22761delGGAG;NM_000036.2:c.1323+112_1323+115delGGAG;NM_001172626.1:c.1311+112_1311+115delGGAG 41131005 34245099 hCV33603736 1.60e-01 2005.07.17 2005.07.17 2006.03.13 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115220416_115220419delCTCC;NG_008012.1:g.22758_22761delGGAG;NM_000036.2:c.1323+112_1323+115delGGAG;NM_001172626.1:c.1311+112_1311+115delGGAG 498977554 34245099 20110316_indels_chr1_115220415_115220418 1.60e-01 2012.03.19 2012.03.19 2006.03.13 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115220420C>T;NG_008012.1:g.22757G>A;NM_000036.2:c.1323+111G>A;NM_001172626.1:c.1311+111G>A 167025306 72687865 NA20431_36_chr1_115021943 variation has been flagged as failed by submitter 2009.09.30 2009.09.30 2009.02.14 2011.09.09 137 DEVINE_LAB 270 NC_000001.10:g.115220421_115220428delTCCTTCCT;NG_008012.1:g.22749_22756delAGGAAGGA;NM_000036.2:c.1323+103_1323+110delAGGAAGGA;NM_001172626.1:c.1311+103_1311+110delAGGAAGGA 102426169 72459409 INDEL_GP36_2008a_2904218_0 2008.05.18 2008.05.18 2009.02.14 2011.07.08 137 HGSV 270 NC_000001.10:g.115220423delC;NC_000001.10:g.115220423delCinsCTTC;NG_008012.1:g.22754delG;NG_008012.1:g.22754delGinsGAAG;NM_000036.2:c.1323+108delG;NM_000036.2:c.1323+108delGinsGAAG;NM_001172626.1:c.1311+108delG;NM_001172626.1:c.1311+108delGinsGAAG 81965136 61401956 Cor18956_DIV_20070510.chr1_114932512-114932517_1 2007.12.01 2007.12.01 2007.12.16 2011.07.08 137 BCMHGSC_JDW 270 NC_000001.10:g.115220423delC;NC_000001.10:g.115220423delCinsCTTC;NG_008012.1:g.22754delG;NG_008012.1:g.22754delGinsGAAG;NM_000036.2:c.1323+108delG;NM_000036.2:c.1323+108delGinsGAAG;NM_001172626.1:c.1311+108delG;NM_001172626.1:c.1311+108delGinsGAAG 103489600 61401956 JWB-4006819 2008.06.06 2009.05.11 2007.12.16 2011.07.08 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115220427delC;NC_000001.10:g.115220427delCinsCTTCCTTC;NG_008012.1:g.22750delG;NG_008012.1:g.22750delGinsGAAGGAAG;NM_000036.2:c.1323+104delG;NM_000036.2:c.1323+104delGinsGAAGGAAG;NM_001172626.1:c.1311+104delG;NM_001172626.1:c.1311+104delGinsGAAGGAAG 95241145 71093606 1104685713240 2008.03.21 2008.12.02 2009.02.13 2011.07.08 137 GMI 270 NC_000001.10:g.115220428T>C;NG_008012.1:g.22749A>G;NM_000036.2:c.1323+103A>G;NM_001172626.1:c.1311+103A>G 275986640 200206709 GMI_AK_SNP_306803 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 CLINSEQ_SNP 270 NC_000001.10:g.115220497C>A;NG_008012.1:g.22680G>T;NM_000036.2:c.1323+34G>T;NM_001172626.1:c.1311+34G>T 491600800 202052347 SNV-chr1-115022020 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115220523C>T;NG_008012.1:g.22654G>A;NM_000036.2:c.1323+8G>A;NM_001172626.1:c.1311+8G>A 328871256 140176911 20100804_snps_514792_chr1_115220523 1.79e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115220523C>T;NG_008012.1:g.22654G>A;NM_000036.2:c.1323+8G>A;NM_001172626.1:c.1311+8G>A 491600801 140176911 SNV-chr1-115022046 1.79e-02 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115220524G>A;NG_008012.1:g.22653C>T;NM_000036.2:c.1323+7C>T;NM_001172626.1:c.1311+7C>T 454333755 191152112 20101123_snps_500985_chr1_115220524 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115220534G>C;NG_008012.1:g.22643C>G;NM_000036.2:c.1320C>G;NM_001172626.1:c.1308C>G;NP_000027.2:p.Ile440Met;NP_001166097.1:p.Ile436Met 328871257 144014236 20100804_snps_514793_chr1_115220534 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115220534G>C;NG_008012.1:g.22643C>G;NM_000036.2:c.1320C>G;NM_001172626.1:c.1308C>G;NP_000027.2:p.Ile440Met;NP_001166097.1:p.Ile436Met 341983564 144014236 ESP2500-chr1-115220534 5.00e-04 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 APPLERA_GI 270 NC_000001.10:g.115220593G>A;NG_008012.1:g.22584C>T;NM_000036.2:c.1261C>T;NM_001172626.1:c.1249C>T;NP_000027.2:p.Arg421Trp;NP_001166097.1:p.Arg417Trp 48429340 35859650 hCV12073074 1.40e-03 germline pathogenic 2005.11.30 2005.11.30 2006.03.15 2012.11.28 137 OMICIA 270 NC_000001.9:g.115022116G>A NC_000001.10:g.115220593G>A;NG_008012.1:g.22584C>T;NM_000036.2:c.1261C>T;NM_001172626.1:c.1249C>T;NP_000027.2:p.Arg421Trp;NP_001166097.1:p.Arg417Trp 169590098 35859650 2009_August_001_003_AMPD1_102770_0002 1.40e-03 germline pathogenic 2009.10.01 2012.08.28 2006.03.15 2012.11.28 137 OMIM-CURATED-RECORDS 270 NP_000027.2:p.ARG421TRP NC_000001.10:g.115220593G>A;NG_008012.1:g.22584C>T;NM_000036.2:c.1261C>T;NM_001172626.1:c.1249C>T;NP_000027.2:p.Arg421Trp;NP_001166097.1:p.Arg417Trp 275513854 35859650 113 1.40e-03 germline pathogenic 2010.11.22 2010.11.22 2006.03.15 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115220593G>A;NG_008012.1:g.22584C>T;NM_000036.2:c.1261C>T;NM_001172626.1:c.1249C>T;NP_000027.2:p.Arg421Trp;NP_001166097.1:p.Arg417Trp 341983567 35859650 ESP2500-chr1-115220593 1.40e-03 germline pathogenic 2011.03.25 2011.03.25 2006.03.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115220593G>A;NG_008012.1:g.22584C>T;NM_000036.2:c.1261C>T;NM_001172626.1:c.1249C>T;NP_000027.2:p.Arg421Trp;NP_001166097.1:p.Arg417Trp 454333756 35859650 20101123_snps_500986_chr1_115220593 1.40e-03 germline pathogenic 2011.07.20 2011.07.20 2006.03.15 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115220593G>A;NG_008012.1:g.22584C>T;NM_000036.2:c.1261C>T;NM_001172626.1:c.1249C>T;NP_000027.2:p.Arg421Trp;NP_001166097.1:p.Arg417Trp 491298725 35859650 nonsyn_14952_chr_1_115220593 1.40e-03 germline pathogenic 2012.03.05 2012.03.05 2006.03.15 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115220633C>T;NG_008012.1:g.22544G>A;NM_000036.2:c.1221G>A;NM_001172626.1:c.1209G>A;NP_000027.2:p.Lys407=;NP_001166097.1:p.Lys403= 341983569 138993729 ESP2500-chr1-115220633 5.00e-04 2011.03.25 2011.03.25 2011.05.09 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115220633C>T;NG_008012.1:g.22544G>A;NM_000036.2:c.1221G>A;NM_001172626.1:c.1209G>A;NP_000027.2:p.Lys407=;NP_001166097.1:p.Lys403= 454333757 138993729 20101123_snps_500987_chr1_115220633 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 NHLBI-ESP 270 NC_000001.10:g.115220643C>T;NG_008012.1:g.22534G>A;NM_000036.2:c.1211G>A;NM_001172626.1:c.1199G>A;NP_000027.2:p.Arg404His;NP_001166097.1:p.Arg400His 341983571 146437677 ESP2500-chr1-115220643 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115220643C>T;NG_008012.1:g.22534G>A;NM_000036.2:c.1211G>A;NM_001172626.1:c.1199G>A;NP_000027.2:p.Arg404His;NP_001166097.1:p.Arg400His 491298726 146437677 nonsyn_14953_chr_1_115220643 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115220644G>A;NG_008012.1:g.22533C>T;NM_000036.2:c.1210C>T;NM_001172626.1:c.1198C>T;NP_000027.2:p.Arg404Cys;NP_001166097.1:p.Arg400Cys 341983573 143303551 ESP2500-chr1-115220644 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115220659G>A;NG_008012.1:g.22518C>T;NM_000036.2:c.1195C>T;NM_001172626.1:c.1183C>T;NP_000027.2:p.Arg399Cys;NP_001166097.1:p.Arg395Cys 341983576 143583425 ESP2500-chr1-115220659 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115220758G>C;NG_008012.1:g.22419C>G;NM_000036.2:c.1192-96C>G;NM_001172626.1:c.1180-96C>G 454333758 191957200 20101123_snps_500988_chr1_115220758 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 270 NC_000001.10:g.115220760G>T;NG_008012.1:g.22417C>A;NM_000036.2:c.1192-98C>A;NM_001172626.1:c.1180-98C>A 84699127 61179687 Cor18517_SNV_20070510.chr1_114932802 2.70e-02 2007.12.07 2007.12.07 2007.12.16 2011.07.08 137 BUSHMAN 270 NC_000001.10:g.115220760G>T;NG_008012.1:g.22417C>A;NM_000036.2:c.1192-98C>A;NM_001172626.1:c.1180-98C>A 198961435 61179687 BUSHMAN-chr1-115022282 2.70e-02 2010.03.06 2010.03.06 2007.12.16 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115220760G>T;NG_008012.1:g.22417C>A;NM_000036.2:c.1192-98C>A;NM_001172626.1:c.1180-98C>A 218609402 61179687 pilot_1_YRI_419085_chr1_115022283 2.70e-02 2010.04.22 2010.04.22 2007.12.16 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115220844C>T;NG_008012.1:g.22333G>A;NM_000036.2:c.1191+110G>A;NM_001172626.1:c.1179+110G>A 328871258 143862592 20100804_snps_514794_chr1_115220844 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115220845G>A;NG_008012.1:g.22332C>T;NM_000036.2:c.1191+109C>T;NM_001172626.1:c.1179+109C>T 328871259 148647876 20100804_snps_514795_chr1_115220845 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115220886G>A;NG_008012.1:g.22291C>T;NM_000036.2:c.1191+68C>T;NM_001172626.1:c.1179+68C>T 218609403 114557214 pilot_1_YRI_419086_chr1_115022409 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115220886G>A;NG_008012.1:g.22291C>T;NM_000036.2:c.1191+68C>T;NM_001172626.1:c.1179+68C>T 480875195 114557214 HumanOmni2.5-4v1_D_kgp15529186-0_B_R_1836702223 5.50e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115220886G>A;NG_008012.1:g.22291C>T;NM_000036.2:c.1191+68C>T;NM_001172626.1:c.1179+68C>T 482079303 114557214 HumanOmni2.5-4v1_B_SNP1-115022409-0_B_R_1631195081 5.50e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115221046T>G;NG_008012.1:g.22131A>C;NM_000036.2:c.1099A>C;NM_001172626.1:c.1087A>C;NP_000027.2:p.Thr367Pro;NP_001166097.1:p.Thr363Pro 341983578 140907790 ESP2500-chr1-115221046 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115221075T>C;NG_008012.1:g.22102A>G;NM_000036.2:c.1070A>G;NM_001172626.1:c.1058A>G;NP_000027.2:p.Gln357Arg;NP_001166097.1:p.Gln353Arg 341983579 150190849 ESP2500-chr1-115221075 5.00e-04 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115221075T>C;NG_008012.1:g.22102A>G;NM_000036.2:c.1070A>G;NM_001172626.1:c.1058A>G;NP_000027.2:p.Gln357Arg;NP_001166097.1:p.Gln353Arg 454333759 150190849 20101123_snps_500989_chr1_115221075 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115221075T>C;NG_008012.1:g.22102A>G;NM_000036.2:c.1070A>G;NM_001172626.1:c.1058A>G;NP_000027.2:p.Gln357Arg;NP_001166097.1:p.Gln353Arg 491298727 150190849 nonsyn_14954_chr_1_115221075 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115221075T>C;NG_008012.1:g.22102A>G;NM_000036.2:c.1070A>G;NM_001172626.1:c.1058A>G;NP_000027.2:p.Gln357Arg;NP_001166097.1:p.Gln353Arg 491600802 150190849 SNV-chr1-115022598 5.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115221082A>G;NG_008012.1:g.22095T>C;NM_000036.2:c.1063T>C;NM_001172626.1:c.1051T>C;NP_000027.2:p.Ser355Pro;NP_001166097.1:p.Ser351Pro 491600803 201878293 SNV-chr1-115022605 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115221096C>T;NG_008012.1:g.22081G>A;NM_000036.2:c.1049G>A;NM_001172626.1:c.1037G>A;NP_000027.2:p.Arg350His;NP_001166097.1:p.Arg346His 341983581 142123340 ESP2500-chr1-115221096 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 CANCER-GENOME 270 NC_000001.10:g.115221116C>A;NG_008012.1:g.22061G>T;NM_000036.2:c.1029G>T;NM_001172626.1:c.1017G>T;NP_000027.2:p.Met343Ile;NP_001166097.1:p.Met339Ile 86342061 61752478 910 2.30e-03 2008.01.25 2008.01.25 2008.03.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115221116C>A;NG_008012.1:g.22061G>T;NM_000036.2:c.1029G>T;NM_001172626.1:c.1017G>T;NP_000027.2:p.Met343Ile;NP_001166097.1:p.Met339Ile 328871261 61752478 20100804_snps_514797_chr1_115221116 2.30e-03 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115221116C>A;NG_008012.1:g.22061G>T;NM_000036.2:c.1029G>T;NM_001172626.1:c.1017G>T;NP_000027.2:p.Met343Ile;NP_001166097.1:p.Met339Ile 341983584 61752478 ESP2500-chr1-115221116 2.30e-03 2011.03.25 2011.03.25 2008.03.23 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115221116C>A;NG_008012.1:g.22061G>T;NM_000036.2:c.1029G>T;NM_001172626.1:c.1017G>T;NP_000027.2:p.Met343Ile;NP_001166097.1:p.Met339Ile 491298728 61752478 nonsyn_14955_chr_1_115221116 2.30e-03 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115221116C>A;NG_008012.1:g.22061G>T;NM_000036.2:c.1029G>T;NM_001172626.1:c.1017G>T;NP_000027.2:p.Met343Ile;NP_001166097.1:p.Met339Ile 491600804 61752478 SNV-chr1-115022639 2.30e-03 2012.03.06 2012.03.12 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115221131A>C;NG_008012.1:g.22046T>G;NM_000036.2:c.1014T>G;NM_001172626.1:c.1002T>G;NP_000027.2:p.His338Gln;NP_001166097.1:p.His334Gln 341983586 148795776 ESP2500-chr1-115221131 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115221336A>T;NG_008012.1:g.21841T>A;NM_000036.2:c.997-188T>A;NM_001172626.1:c.985-188T>A 218609404 76816611 pilot_1_YRI_419087_chr1_115022859 5.31e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115221336A>T;NG_008012.1:g.21841T>A;NM_000036.2:c.997-188T>A;NM_001172626.1:c.985-188T>A 230700996 76816611 pilot_1_CEU_305625_chr1_115022859 5.31e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115221336A>T;NG_008012.1:g.21841T>A;NM_000036.2:c.997-188T>A;NM_001172626.1:c.985-188T>A 275986641 76816611 GMI_AK_SNP_306804 5.31e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115221345G>T;NG_008012.1:g.21832C>A;NM_000036.2:c.997-197C>A;NM_001172626.1:c.985-197C>A 218609405 75349593 pilot_1_YRI_419088_chr1_115022868 5.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115221366A>G;NG_008012.1:g.21811T>C;NM_000036.2:c.997-218T>C;NM_001172626.1:c.985-218T>C 205273278 111912053 BCM_CMT_1011-116392 2.30e-03 2010.03.15 2010.03.15 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115221366A>G;NG_008012.1:g.21811T>C;NM_000036.2:c.997-218T>C;NM_001172626.1:c.985-218T>C 230700997 111912053 pilot_1_CEU_305626_chr1_115022889 2.30e-03 2010.05.01 2010.05.01 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115221410C>T;NG_008012.1:g.21767G>A;NM_000036.2:c.997-262G>A;NM_001172626.1:c.985-262G>A 454333760 187048331 20101123_snps_500990_chr1_115221410 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 270 NC_000001.10:g.115221598G>A;NG_008012.1:g.21579C>T;NM_000036.2:c.997-450C>T;NM_001172626.1:c.985-450C>T 79815664 58375823 Cor18507_SNV_20070510.chr1_114933640 2007.11.23 2007.11.23 2007.12.15 2011.07.08 137 BUSHMAN 270 NC_000001.10:g.115221627G>A;NG_008012.1:g.21550C>T;NM_000036.2:c.997-479C>T;NM_001172626.1:c.985-479C>T 198961439 112026379 BUSHMAN-chr1-115023149 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115221748A>G;NG_008012.1:g.21429T>C;NM_000036.2:c.996+452T>C;NM_001172626.1:c.984+452T>C 328871262 141334239 20100804_snps_514798_chr1_115221748 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 270 NC_000001.10:g.115221752T>A;NG_008012.1:g.21425A>T;NM_000036.2:c.996+448A>T;NM_001172626.1:c.984+448A>T 9866777 6685096 chr1.NT_019273.15_5657556 2.70e-02 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115221752T>A;NG_008012.1:g.21425A>T;NM_000036.2:c.996+448A>T;NM_001172626.1:c.984+448A>T 85562808 6685096 Cor18517_SNV_20070510.chr1_114933794 2.70e-02 2007.12.09 2007.12.09 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115221752T>A;NG_008012.1:g.21425A>T;NM_000036.2:c.996+448A>T;NM_001172626.1:c.984+448A>T 218609406 6685096 pilot_1_YRI_419089_chr1_115023275 2.70e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222066T>C;NG_008012.1:g.21111A>G;NM_000036.2:c.996+134A>G;NM_001172626.1:c.984+134A>G 454333761 192753656 20101123_snps_500991_chr1_115222066 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 270 NC_000001.10:g.115222087T>C;NG_008012.1:g.21090A>G;NM_000036.2:c.996+113A>G;NM_001172626.1:c.984+113A>G 275986642 201724664 GMI_AK_SNP_306805 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 TSC-CSHL 270 NC_000001.10:g.115222107A>G;NG_008012.1:g.21070T>C;NM_000036.2:c.996+93T>C;NM_001172626.1:c.984+93T>C 84519 737549 TSC0032809 3.20e-03 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 ABI 270 NC_000001.10:g.115222107A>G;NG_008012.1:g.21070T>C;NM_000036.2:c.996+93T>C;NM_001172626.1:c.984+93T>C 44062105 737549 hCV2233107 3.20e-03 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222107A>G;NG_008012.1:g.21070T>C;NM_000036.2:c.996+93T>C;NM_001172626.1:c.984+93T>C 328871263 737549 20100804_snps_514799_chr1_115222107 3.20e-03 2011.03.22 2011.03.22 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222110A>C;NG_008012.1:g.21067T>G;NM_000036.2:c.996+90T>G;NM_001172626.1:c.984+90T>G 454333762 184999114 20101123_snps_500992_chr1_115222110 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115222169G>C;NG_008012.1:g.21008C>G;NM_000036.2:c.996+31C>G;NM_001172626.1:c.984+31C>G 230700998 115883987 pilot_1_CEU_305627_chr1_115023692 1.88e-02 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115222169G>C;NG_008012.1:g.21008C>G;NM_000036.2:c.996+31C>G;NM_001172626.1:c.984+31C>G 491600805 115883987 SNV-chr1-115023692 1.88e-02 2012.03.06 2012.03.12 2010.07.14 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115222220C>G;NG_008012.1:g.20957G>C;NM_000036.2:c.976G>C;NM_001172626.1:c.964G>C;NP_000027.2:p.Asp326His;NP_001166097.1:p.Asp322His 341983587 142477997 ESP2500-chr1-115222220 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115222223G>A;NG_008012.1:g.20954C>T;NM_000036.2:c.973C>T;NM_001172626.1:c.961C>T;NP_000027.2:p.Arg325Ter;NP_001166097.1:p.Arg321Ter 341983590 143235944 ESP2500-chr1-115222223 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 APPLERA_GI 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 48429341 34526199 hCV25952807 1.88e-02 2005.11.30 2005.11.30 2006.03.14 2012.11.28 137 SI_EXO 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 52061293 34526199 NT_019273.17_11308352 1.88e-02 2006.03.29 2006.03.29 2006.03.14 2012.11.28 137 CANCER-GENOME 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 86342062 34526199 370 1.88e-02 2008.01.25 2008.01.25 2006.03.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 230700999 34526199 pilot_1_CEU_305628_chr1_115023760 1.88e-02 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 244294956 34526199 CVDSNP55v1_A_rs34526199 1.88e-02 2010.06.10 2010.06.10 2006.03.14 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 341983592 34526199 ESP2500-chr1-115222237 1.88e-02 2011.03.25 2011.03.25 2006.03.14 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 491298729 34526199 nonsyn_14956_chr_1_115222237 1.88e-02 2012.03.05 2012.03.05 2006.03.14 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115222237T>A;NG_008012.1:g.20940A>T;NM_000036.2:c.959A>T;NM_001172626.1:c.947A>T;NP_000027.2:p.Lys320Ile;NP_001166097.1:p.Lys316Ile 491600806 34526199 SNV-chr1-115023760 1.88e-02 2012.03.06 2012.03.12 2006.03.14 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115222254G>A;NG_008012.1:g.20923C>T;NM_000036.2:c.942C>T;NM_001172626.1:c.930C>T;NP_000027.2:p.Asp314=;NP_001166097.1:p.Asp310= 341983594 145030449 ESP2500-chr1-115222254 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 TSC-CSHL 270 NC_000001.10:g.115222290G>C;NG_008012.1:g.20887C>G;NM_000036.2:c.906C>G;NM_001172626.1:c.894C>G;NP_000027.2:p.Ser302=;NP_001166097.1:p.Ser298= 1392473 949421 TSC0375582 2000.09.06 2003.10.10 2000.10.05 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115222310G>A;NG_008012.1:g.20867C>T;NM_000036.2:c.886C>T;NM_001172626.1:c.874C>T;NP_000027.2:p.Arg296Cys;NP_001166097.1:p.Arg292Cys 341983597 139003085 ESP2500-chr1-115222310 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115222340T>C;NG_008012.1:g.20837A>G;NM_000036.2:c.867-11A>G;NM_001172626.1:c.855-11A>G 454333763 189111132 20101123_snps_500993_chr1_115222340 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 135212 761755 TSC0113844 2.02e-01 2000.09.06 2006.10.25 2000.10.05 2012.11.28 137 YUSUKE 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 2984444 761755 IMS-JST006128 2.02e-01 2001.05.24 2006.10.25 2000.10.05 2012.11.28 137 HGBASE 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 3186083 761755 SNP000571667 2.02e-01 2001.07.09 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 9890410 761755 chr1.NT_019273.15_5658238 2.02e-01 2003.06.28 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 15445151 761755 NT_019273.16_6218382 2.02e-01 2003.11.14 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 19128929 761755 CSHL-HuDD-200402.chr1.NT_019273.16_6218382 2.02e-01 2004.02.20 2004.03.04 2000.10.05 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 19854618 761755 CSHL-HuFF-200402.chr1.NT_019273.16_6218382 2.02e-01 2004.02.21 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 20478621 761755 WGSA-200403-chr1.chr1.NT_019273.16_6218382 2.02e-01 2004.03.18 2004.03.18 2000.10.05 2012.11.28 137 ABI 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 43985385 761755 hCV2233106 2.02e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 66787752 761755 HumanHap300v1.1_rs761755 2.02e-01 2006.11.09 2006.11.09 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 67807652 761755 HumanHap550v1.1_rs761755 2.02e-01 2006.11.14 2006.11.14 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 67976929 761755 HumanHap650Yv1.0_rs761755 2.02e-01 2006.11.15 2006.11.15 2000.10.05 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 68778594 761755 PGP00682742 2.02e-01 2007.01.30 2007.08.14 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 70938267 761755 HumanHap550v3.0__rs761755 2.02e-01 2007.04.20 2008.03.31 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 71541436 761755 HumanHap650Yv3.0_rs761755 2.02e-01 2007.04.23 2007.04.23 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 75793972 761755 ILMN_Human_1M_rs761755 2.02e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 SI_EXO 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 76899863 761755 NT_019273.18_11130119 2.02e-01 2007.09.20 2007.09.20 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 79263389 761755 HumanHap300v2.0_rs761755 2.02e-01 2007.11.18 2007.11.18 2000.10.05 2012.11.28 137 HGSV 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 81341655 761755 Cor18507_SNV_20070510.chr1_114934476 2.02e-01 2007.11.29 2007.11.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 83555314 761755 KHS488780 2.02e-01 2007.12.05 2007.12.05 2000.10.05 2012.11.28 137 HGSV 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 84888233 761755 Cor19129_SNV_20070510.chr1_114934476 2.02e-01 2007.12.08 2007.12.08 2000.10.05 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 87730617 761755 JWB-0108793 2.02e-01 2008.02.26 2008.02.26 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 97969162 761755 1103675202576 2.02e-01 2008.03.30 2008.03.30 2000.10.05 2012.11.28 137 BGI 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 106596536 761755 BGI_rs761755 2.02e-01 2008.09.17 2009.06.16 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 108541034 761755 CEU.trio.12.15.2008_148142_chr1_115023957 2.02e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 111044750 761755 NA19240_2008_12_16_135329_chr1_115023957 2.02e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 118985576 761755 NA18507_000134296_NCBI36.1_chr1_115023957 2.02e-01 2009.01.22 2009.01.22 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 122794822 761755 HumanCNV370v1_C_rs761755 2.02e-01 2009.04.15 2009.04.15 2000.10.05 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 138064397 761755 ENSSNP5984628 2.02e-01 2009.05.16 2009.05.16 2000.10.05 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 139270207 761755 ENSSNP20414 2.02e-01 2009.05.18 2009.10.16 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 154435000 761755 Human610_Quadv1_B_rs761755-128_B_F_1501856071 2.02e-01 2009.06.20 2009.06.20 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 159610029 761755 Human660W-Quad_v1_A_rs761755-128_B_F_1501856071 2.02e-01 2009.07.07 2009.07.07 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 163941819 761755 NA19240_36_chr1_115023957 2.02e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 165070076 761755 NA07022_36_chr1_115023957 2.02e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 167025316 761755 NA20431_36_chr1_115023957 2.02e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 172318390 761755 HumanCNV370-Quadv3_C_rs761755-128_B_F_1501856071 2.02e-01 2009.10.02 2009.10.04 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 174454140 761755 Human1M-Duov3_B_rs761755-128_B_F_1501856071 2.02e-01 2009.10.04 2009.10.04 2000.10.05 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 198961441 761755 BUSHMAN-chr1-115023956 2.02e-01 2010.03.06 2010.03.06 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 205046023 761755 BCM_CMT_1011-3844 2.02e-01 2010.03.15 2010.03.15 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 218609407 761755 pilot_1_YRI_419090_chr1_115023957 2.02e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 230701000 761755 pilot_1_CEU_305629_chr1_115023957 2.02e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 238356370 761755 pilot_1_CHB+JPT_241447_chr1_115023957 2.02e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 244310239 761755 CVDSNP55v1_A_rs761755 2.02e-01 2010.06.10 2010.06.10 2000.10.05 2012.11.28 137 BL 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 253401814 761755 SNP120181_1_115023957 2.02e-01 2010.08.18 2010.08.18 2000.10.05 2012.11.28 137 GMI 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 275986643 761755 GMI_AK_SNP_306806 2.02e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 270 NC_000001.10:g.115222434G>A;NG_008012.1:g.20743C>T;NM_000036.2:c.867-105C>T;NM_001172626.1:c.855-105C>T 290603371 761755 SNP_109729_chr1_115023957 2.02e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222471C>T;NG_008012.1:g.20706G>A;NM_000036.2:c.867-142G>A;NM_001172626.1:c.855-142G>A 454333764 192799036 20101123_snps_500994_chr1_115222471 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 92049 743041 TSC0113843 1.63e-01 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 19128990 743041 CSHL-HuDD-200402.chr1.NT_019273.16_6218426 1.63e-01 2004.02.20 2004.03.04 2000.10.05 2012.11.28 137 ABI 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 43967878 743041 hCV2486771 1.63e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 87730621 743041 JWB-0108794 1.63e-01 2008.02.26 2008.02.26 2000.10.05 2012.11.28 137 BGI 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 102777128 743041 BGI_rs743041 1.63e-01 2008.06.04 2009.06.16 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 108541038 743041 CEU.trio.12.15.2008_148143_chr1_115024001 1.63e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 138064398 743041 ENSSNP11611746 1.63e-01 2009.05.16 2009.05.16 2000.10.05 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 161161196 743041 ENSSNP20415 1.63e-01 2009.09.24 2010.03.07 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 205059806 743041 BCM_CMT_1011-10704 1.63e-01 2010.03.15 2010.03.15 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 230701001 743041 pilot_1_CEU_305630_chr1_115024001 1.63e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 238356371 743041 pilot_1_CHB+JPT_241448_chr1_115024001 1.63e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 253401818 743041 SNP120182_1_115024001 1.63e-01 2010.08.18 2010.08.18 2000.10.05 2012.11.28 137 GMI 270 NC_000001.10:g.115222478G>A;NG_008012.1:g.20699C>T;NM_000036.2:c.867-149C>T;NM_001172626.1:c.855-149C>T 275986644 743041 GMI_AK_SNP_306807 1.63e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 TSC-CSHL 270 NC_000001.10:g.115222543G>T;NG_008012.1:g.20634C>A;NM_000036.2:c.867-214C>A;NM_001172626.1:c.855-214C>A 1351287 915955 TSC0200639 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115222779T>C;NG_008012.1:g.20398A>G;NM_000036.2:c.866+101A>G;NM_001172626.1:c.854+101A>G 454333765 184699605 20101123_snps_500995_chr1_115222779 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115222810A>G;NG_008012.1:g.20367T>C;NM_000036.2:c.866+70T>C;NM_001172626.1:c.854+70T>C 328871265 142271092 20100804_snps_514801_chr1_115222810 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115222862G>T;NG_008012.1:g.20315C>A;NM_000036.2:c.866+18C>A;NM_001172626.1:c.854+18C>A 328871266 146422068 20100804_snps_514802_chr1_115222862 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115222892G>A;NG_008012.1:g.20285C>T;NM_000036.2:c.854C>T;NM_001172626.1:c.842C>T;NP_000027.2:p.Ala285Val;NP_001166097.1:p.Ala281Val 454333766 189357141 20101123_snps_500996_chr1_115222892 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 270 NC_000001.10:g.115222943G>C;NG_008012.1:g.20234C>G;NM_000036.2:c.803C>G;NM_001172626.1:c.791C>G;NP_000027.2:p.Pro268Arg;NP_001166097.1:p.Pro264Arg 341983598 141559920 ESP2500-chr1-115222943 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115222959T>C;NG_008012.1:g.20218A>G;NM_000036.2:c.787A>G;NM_001172626.1:c.775A>G;NP_000027.2:p.Lys263Glu;NP_001166097.1:p.Lys259Glu 328871267 138705920 20100804_snps_514803_chr1_115222959 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115222959T>C;NG_008012.1:g.20218A>G;NM_000036.2:c.787A>G;NM_001172626.1:c.775A>G;NP_000027.2:p.Lys263Glu;NP_001166097.1:p.Lys259Glu 341983600 138705920 ESP2500-chr1-115222959 1.40e-03 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115222959T>C;NG_008012.1:g.20218A>G;NM_000036.2:c.787A>G;NM_001172626.1:c.775A>G;NP_000027.2:p.Lys263Glu;NP_001166097.1:p.Lys259Glu 491298730 138705920 nonsyn_14957_chr_1_115222959 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 GMI 270 NC_000001.10:g.115222966A>G;NG_008012.1:g.20211T>C;NM_000036.2:c.780T>C;NM_001172626.1:c.768T>C;NP_000027.2:p.Asp260=;NP_001166097.1:p.Asp256= 275986645 201988963 GMI_AK_SNP_306808 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 YSAMUELS 270 NC_000001.9:g.115024515G>A NC_000001.10:g.115222992G>A;NG_008012.1:g.20185C>T;NM_000036.2:c.754C>T;NM_001172626.1:c.742C>T;NP_000027.2:p.Pro252Ser;NP_001166097.1:p.Pro248Ser 344937841 149987981 NC_000001.9:g.115024515G>A germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 1000GENOMES 270 NC_000001.10:g.115223011G>A;NG_008012.1:g.20166C>T;NM_000036.2:c.735C>T;NM_001172626.1:c.723C>T;NP_000027.2:p.Asp245=;NP_001166097.1:p.Asp241= 454333767 181412206 20101123_snps_500997_chr1_115223011 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 270 NC_000001.10:g.115223042T>G;NG_008012.1:g.20135A>C;NM_000036.2:c.704A>C;NM_001172626.1:c.692A>C;NP_000027.2:p.Glu235Ala;NP_001166097.1:p.Glu231Ala 341983603 138908593 ESP2500-chr1-115223042 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115223060C>T;NG_008012.1:g.20117G>A;NM_000036.2:c.686G>A;NM_001172626.1:c.674G>A;NP_000027.2:p.Arg229Gln;NP_001166097.1:p.Arg225Gln 341983604 149424604 ESP2500-chr1-115223060 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 APPLERA_GI 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 48431008 35197706 hCV25953697 7.30e-03 2005.11.30 2005.11.30 2006.03.14 2012.11.28 137 SEATTLESEQ 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 159698389 35197706 AMPD1-115024618 7.30e-03 2009.07.10 2009.07.10 2006.03.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 160625679 35197706 HumanOmni1-Quad_v1-0_B_rs35197706-128_T_F_1562621105 7.30e-03 2009.08.06 2009.10.04 2006.03.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 218609408 35197706 pilot_1_YRI_419091_chr1_115024618 7.30e-03 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 341983608 35197706 ESP2500-chr1-115223095 7.30e-03 2011.03.25 2011.03.25 2006.03.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 480775086 35197706 HumanOmni2.5-4v1_D_kgp15147359-0_T_F_1835535677 7.30e-03 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 481717467 35197706 HumanOmni1-Quad_v1-0_C_rs35197706-131_T_F_1863355551 7.30e-03 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 482079309 35197706 HumanOmni2.5-4v1_B_SNP1-115024618-0_T_F_1625878729 7.30e-03 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115223095A>G;NG_008012.1:g.20082T>C;NM_000036.2:c.651T>C;NM_001172626.1:c.639T>C;NP_000027.2:p.Phe217=;NP_001166097.1:p.Phe213= 491600807 35197706 SNV-chr1-115024618 7.30e-03 2012.03.06 2012.03.12 2006.03.14 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115223108A>G;NG_008012.1:g.20069T>C;NM_000036.2:c.647-9T>C;NM_001172626.1:c.635-9T>C 491600808 201714031 SNV-chr1-115024631 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 GMI 270 NC_000001.10:g.115223156A>T;NG_008012.1:g.20021T>A;NM_000036.2:c.647-57T>A;NM_001172626.1:c.635-57T>A 275986646 148919817 GMI_AK_SNP_306809 5.31e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223156A>T;NG_008012.1:g.20021T>A;NM_000036.2:c.647-57T>A;NM_001172626.1:c.635-57T>A 328871268 148919817 20100804_snps_514804_chr1_115223156 5.31e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223179_115223181delACA;NG_008012.1:g.19996_19998delTGT;NM_000036.2:c.647-82_647-80delTGT;NM_001172626.1:c.635-82_635-80delTGT 498977558 200467714 20110316_indels_chr1_115223178_115223180 6.00e-03 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 16451400 11589112 CSHL-HuAA-200402.chr1.NT_019273.16_6219261 2.44e-01 2004.02.17 2004.03.04 2004.02.28 2012.11.28 137 ABI 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 41340358 11589112 hCV26680486 2.44e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 84461039 11589112 Cor18517_SNV_20070510.chr1_114935355 2.44e-01 2007.12.07 2007.12.07 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 99242737 11589112 1103675202574 2.44e-01 2008.04.03 2008.04.03 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 108541042 11589112 CEU.trio.12.15.2008_148144_chr1_115024836 2.44e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 118985580 11589112 NA18507_000134297_NCBI36.1_chr1_115024836 2.44e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 143681895 11589112 ENSSNP4247675 2.44e-01 2009.06.06 2009.10.19 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 155559906 11589112 GMI_SNP_71849979 2.44e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 159983353 11589112 HumanOmni1-Quad_v1-0_B_rs11589112-128_B_F_1562885018 2.44e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 163941830 11589112 NA19240_36_chr1_115024836 2.44e-01 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 165070089 11589112 NA07022_36_chr1_115024836 2.44e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 167025325 11589112 NA20431_36_chr1_115024836 2.44e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 198961445 11589112 BUSHMAN-chr1-115024835 2.44e-01 2010.03.06 2010.03.06 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 230701002 11589112 pilot_1_CEU_305631_chr1_115024836 2.44e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 253401823 11589112 SNP120183_1_115024836 2.44e-01 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 275986647 11589112 GMI_AK_SNP_306810 2.44e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 290603372 11589112 SNP_109730_chr1_115024836 2.44e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115223313C>T;NG_008012.1:g.19864G>A;NM_000036.2:c.647-214G>A;NM_001172626.1:c.635-214G>A 479999240 11589112 HumanOmni1-Quad_v1-0_C_rs11589112-131_B_F_1863280127 2.44e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115223314G>A;NG_008012.1:g.19863C>T;NM_000036.2:c.647-215C>T;NM_001172626.1:c.635-215C>T 275986648 143712146 GMI_AK_SNP_306811 5.59e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223314G>A;NG_008012.1:g.19863C>T;NM_000036.2:c.647-215C>T;NM_001172626.1:c.635-215C>T 328871269 143712146 20100804_snps_514805_chr1_115223314 5.59e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223427C>G;NG_008012.1:g.19750G>C;NM_000036.2:c.647-328G>C;NM_001172626.1:c.635-328G>C 328871270 148103122 20100804_snps_514806_chr1_115223427 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115223499G>A;NG_008012.1:g.19678C>T;NM_000036.2:c.647-400C>T;NM_001172626.1:c.635-400C>T 328871271 142999296 20100804_snps_514807_chr1_115223499 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115223502T>C;NG_008012.1:g.19675A>G;NM_000036.2:c.647-403A>G;NM_001172626.1:c.635-403A>G 454333768 185950835 20101123_snps_500998_chr1_115223502 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 270 NC_000001.10:g.115223699C>T;NG_008012.1:g.19478G>A;NM_000036.2:c.647-600G>A;NM_001172626.1:c.635-600G>A 118985584 74113508 NA18507_000134298_NCBI36.1_chr1_115025222 3.62e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 GMI 270 NC_000001.10:g.115223699C>T;NG_008012.1:g.19478G>A;NM_000036.2:c.647-600G>A;NM_001172626.1:c.635-600G>A 155559914 74113508 GMI_SNP_71619836 3.62e-02 2009.06.24 2009.06.24 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223699C>T;NG_008012.1:g.19478G>A;NM_000036.2:c.647-600G>A;NM_001172626.1:c.635-600G>A 218609409 74113508 pilot_1_YRI_419092_chr1_115025222 3.62e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223699C>T;NG_008012.1:g.19478G>A;NM_000036.2:c.647-600G>A;NM_001172626.1:c.635-600G>A 230701003 74113508 pilot_1_CEU_305632_chr1_115025222 3.62e-02 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 GMI 270 NC_000001.10:g.115223699C>T;NG_008012.1:g.19478G>A;NM_000036.2:c.647-600G>A;NM_001172626.1:c.635-600G>A 275986649 74113508 GMI_AK_SNP_306812 3.62e-02 2010.12.16 2010.12.16 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115223954G>A;NG_008012.1:g.19223C>T;NM_000036.2:c.647-855C>T;NM_001172626.1:c.635-855C>T 454333769 190347269 20101123_snps_500999_chr1_115223954 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115223980C>T;NG_008012.1:g.19197G>A;NM_000036.2:c.647-881G>A;NM_001172626.1:c.635-881G>A 328871272 145107690 20100804_snps_514808_chr1_115223980 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115224121T>C;NG_008012.1:g.19056A>G;NM_000036.2:c.647-1022A>G;NM_001172626.1:c.635-1022A>G 454333770 181212295 20101123_snps_501000_chr1_115224121 1.33e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 270 NC_000001.10:g.115224146A>G;NG_008012.1:g.19031T>C;NM_000036.2:c.647-1047T>C;NM_001172626.1:c.635-1047T>C 275986650 200914867 GMI_AK_SNP_306813 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 15075462 10645732 INDEL_GP34_WGS_165052 4.69e-01 2003.11.13 2003.11.22 2003.12.05 2012.11.28 137 ABI 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 41281838 10645732 hCV33603825 4.69e-01 2005.07.17 2005.07.17 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 98575613 10645732 1103675202575 4.69e-01 2008.04.01 2008.04.01 2003.12.05 2012.11.28 137 GMI 270 NC_000001.10:g.115224147T>A;NG_008012.1:g.19030A>T;NM_000036.2:c.647-1048A>T;NM_001172626.1:c.635-1048A>T 275986651 201751160 GMI_AK_SNP_306814 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 288029316 10645732 GMI_AK_INDEL_45220 4.69e-01 2010.12.20 2011.12.22 2003.12.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 326078520 10645732 JPTCHB_chr1_115025670_indel 4.69e-01 2011.03.11 2011.04.01 2003.12.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 326081434 10645732 CEU_chr1_115025670_indel 4.69e-01 2011.03.11 2011.04.01 2003.12.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 326107543 10645732 YRI_chr1_115025670_indel 4.69e-01 2011.03.11 2011.04.01 2003.12.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115224147_115224148insGGA;NG_008012.1:g.19029_19030insTCC;NM_000036.2:c.647-1049_647-1048insTCC;NM_001172626.1:c.635-1049_635-1048insTCC 498977562 10645732 20110316_indels_chr1_115224147_115224148 4.69e-01 2012.03.19 2012.03.19 2003.12.05 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115224148_115224149insGGA;NG_008012.1:g.19028_19029insTCC;NM_000036.2:c.647-1050_647-1049insTCC;NM_001172626.1:c.635-1050_635-1049insTCC 99788168 66790543 INDEL_GP36_2007a_475273_0 2008.05.06 2008.05.06 2009.02.04 2011.09.17 137 DEVINE_LAB 270 NC_000001.10:g.115224148_115224149insGGA;NG_008012.1:g.19028_19029insTCC;NM_000036.2:c.647-1050_647-1049insTCC;NM_001172626.1:c.635-1050_635-1049insTCC 102587928 66790543 INDEL_GP36_2008a_475273_1 2008.05.18 2008.05.18 2009.02.04 2011.09.17 137 DEVINE_LAB 270 NC_000001.10:g.115224148_115224149insGGA;NG_008012.1:g.19028_19029insTCC;NM_000036.2:c.647-1050_647-1049insTCC;NM_001172626.1:c.635-1050_635-1049insTCC 102587929 66790543 INDEL_GP36_2008a_475273_2 2008.05.18 2008.05.18 2009.02.04 2011.09.17 137 DEVINE_LAB 270 NC_000001.10:g.115224148_115224149insGGA;NG_008012.1:g.19028_19029insTCC;NM_000036.2:c.647-1050_647-1049insTCC;NM_001172626.1:c.635-1050_635-1049insTCC 102587932 66790543 INDEL_GP36_2008a_475273_3 2008.05.18 2008.05.18 2009.02.04 2011.09.17 137 PJP 270 NC_000001.10:g.115224148_115224149insGGA;NG_008012.1:g.19028_19029insTCC;NM_000036.2:c.647-1050_647-1049insTCC;NM_001172626.1:c.635-1050_635-1049insTCC 294599646 66790543 DIP_37350_chr1_115025671 2011.01.21 2011.01.21 2009.02.04 2011.09.17 137 1000GENOMES 270 NC_000001.10:g.115224174C>A;NG_008012.1:g.19003G>T;NM_000036.2:c.647-1075G>T;NM_001172626.1:c.635-1075G>T 230701004 115391531 pilot_1_CEU_305633_chr1_115025697 5.31e-02 2010.05.01 2010.05.01 2010.07.14 2012.11.28 137 GMI 270 NC_000001.10:g.115224174C>A;NG_008012.1:g.19003G>T;NM_000036.2:c.647-1075G>T;NM_001172626.1:c.635-1075G>T 275986652 115391531 GMI_AK_SNP_306815 5.31e-02 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115224202G>A;NG_008012.1:g.18975C>T;NM_000036.2:c.647-1103C>T;NM_001172626.1:c.635-1103C>T 328871273 139032774 20100804_snps_514809_chr1_115224202 1.88e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 80365145 59385008 Cor18507_DIV_20070510.chr1_114936272-114936274_1 2007.11.25 2007.11.25 2007.12.15 2012.11.28 137 HGSV 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 80419527 59385008 Cor18507_DIV_20070510.chr1_114936272-114936274_2 2007.11.25 2007.11.25 2007.12.15 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 95241146 59385008 1104685713241 2008.03.21 2008.12.02 2007.12.15 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 99353997 59385008 INDEL_GP36_2007a_905621_0 2008.05.05 2008.05.05 2007.12.15 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 99751667 59385008 INDEL_GP36_2007a_901091_0 2008.05.06 2008.05.06 2007.12.15 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 99781321 59385008 INDEL_GP36_2007a_944115_0 2008.05.06 2008.05.06 2007.12.15 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 100801592 59385008 INDEL_GP36_2008a_2016538_0 2008.05.17 2008.05.17 2007.12.15 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 102256582 59385008 INDEL_GP36_2008a_901091_1 2008.05.18 2008.05.18 2007.12.15 2012.11.28 137 BL 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 255937087 59385008 SNP8130_1_115025737 2010.08.20 2010.08.20 2007.12.15 2012.11.28 137 GMI 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 288029318 59385008 GMI_AK_INDEL_45221 2010.12.20 2011.12.22 2007.12.15 2012.11.28 137 PJP 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 294599647 59385008 DIP_37351_chr1_115025738 2011.01.21 2011.01.21 2007.12.15 2012.11.28 137 PJP 270 NC_000001.10:g.115224215delA;NG_008012.1:g.18962delT;NM_000036.2:c.647-1116delT;NM_001172626.1:c.635-1116delT 294599648 59385008 DIP_37352_chr1_115025754 2011.01.21 2011.01.21 2007.12.15 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115224232G>A;NG_008012.1:g.18945C>T;NM_000036.2:c.647-1133C>T;NM_001172626.1:c.635-1133C>T 482079312 200643167 HumanOmni2.5-4v1_B_SNP1-115025755-0_B_R_1648201256 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115224232G>A;NG_008012.1:g.18945C>T;NM_000036.2:c.647-1133C>T;NM_001172626.1:c.635-1133C>T 482913746 200643167 HumanOmni2.5-4v1_D_kgp22837292-0_B_R_1860425723 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115224516T>A;NG_008012.1:g.18661A>T;NM_000036.2:c.647-1417A>T;NM_001172626.1:c.635-1417A>T 328871274 142232577 20100804_snps_514810_chr1_115224516 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115224695C>T;NG_008012.1:g.18482G>A;NM_000036.2:c.647-1596G>A;NM_001172626.1:c.635-1596G>A 218609410 78399827 pilot_1_YRI_419093_chr1_115026218 8.70e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115224876C>A;NG_008012.1:g.18301G>T;NM_000036.2:c.647-1777G>T;NM_001172626.1:c.635-1777G>T 454333771 186717397 20101123_snps_501001_chr1_115224876 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115224932T>C;NG_008012.1:g.18245A>G;NM_000036.2:c.647-1833A>G;NM_001172626.1:c.635-1833A>G 165070102 112378952 NA07022_36_chr1_115026455 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115224969A>T;NG_008012.1:g.18208T>A;NM_000036.2:c.646+1851T>A;NM_001172626.1:c.634+1851T>A 454333772 190763976 20101123_snps_501002_chr1_115224969 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 4975997 3789627 IMS-JST146717 1.76e-01 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 65792461 3789627 Human1-rs3789627 1.76e-01 2006.10.10 2006.10.10 2002.08.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 74861187 3789627 ILMN_Human_1M_rs3789627 1.76e-01 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 119462938 3789627 KHS1625185 1.76e-01 2009.02.04 2009.02.04 2002.08.28 2012.11.28 137 GMI 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 155559922 3789627 GMI_SNP_35952990 1.76e-01 2009.06.24 2009.06.24 2002.08.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 173640261 3789627 Human1M-Duov3_B_rs3789627-128_T_R_1513902031 1.76e-01 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 218609411 3789627 pilot_1_YRI_419094_chr1_115026561 1.76e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 230701005 3789627 pilot_1_CEU_305634_chr1_115026561 1.76e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 238356372 3789627 pilot_1_CHB+JPT_241449_chr1_115026561 1.76e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 275986653 3789627 GMI_AK_SNP_306816 1.76e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 482079315 3789627 HumanOmni2.5-4v1_B_SNP1-115026561-0_T_R_1616859460 1.76e-01 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115225038C>T;NG_008012.1:g.18139G>A;NM_000036.2:c.646+1782G>A;NM_001172626.1:c.634+1782G>A 483809071 3789627 HumanOmni2.5-4v1_D_kgp6897567-0_T_R_1817497513 1.76e-01 2012.02.03 2012.02.03 2002.08.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225088G>A;NG_008012.1:g.18089C>T;NM_000036.2:c.646+1732C>T;NM_001172626.1:c.634+1732C>T 328871275 150895987 20100804_snps_514811_chr1_115225088 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 270 NC_000001.10:g.115225216T>C;NG_008012.1:g.17961A>G;NM_000036.2:c.646+1604A>G;NM_001172626.1:c.634+1604A>G 77524972 55967635 Cor12156_SNV_20070510.chr1_114937258 1.83e-02 2007.10.13 2007.10.13 2007.12.07 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225216T>C;NG_008012.1:g.17961A>G;NM_000036.2:c.646+1604A>G;NM_001172626.1:c.634+1604A>G 454333773 55967635 20101123_snps_501003_chr1_115225216 1.83e-02 2011.07.20 2011.07.20 2007.12.07 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115225217T>G;NG_008012.1:g.17960A>C;NM_000036.2:c.646+1603A>C;NM_001172626.1:c.634+1603A>C 138064399 76274269 ENSSNP11611747 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 DEVINE_LAB 270 NC_000001.10:g.115225203_115225204insT;NG_008012.1:g.17973_17974insA;NM_000036.2:c.646+1616_646+1617insA;NM_001172626.1:c.634+1616_634+1617insA 99344958 71665256 INDEL_GP36_2007a_917123_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 HGSV 270 NC_000001.10:g.115225231C>G;NG_008012.1:g.17946G>C;NM_000036.2:c.646+1589G>C;NM_001172626.1:c.634+1589G>C 77701256 55999139 Cor12156_SNV_20070510.chr1_114937273 1.83e-02 2007.10.14 2007.10.14 2007.12.07 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225231C>G;NG_008012.1:g.17946G>C;NM_000036.2:c.646+1589G>C;NM_001172626.1:c.634+1589G>C 328871276 55999139 20100804_snps_514812_chr1_115225231 1.83e-02 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 HGSV 270 NC_000001.10:g.115225238C>T;NG_008012.1:g.17939G>A;NM_000036.2:c.646+1582G>A;NM_001172626.1:c.634+1582G>A 77736881 56222444 Cor12156_SNV_20070510.chr1_114937280 1.79e-02 2007.10.14 2007.10.14 2007.12.07 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225238C>T;NG_008012.1:g.17939G>A;NM_000036.2:c.646+1582G>A;NM_001172626.1:c.634+1582G>A 328871277 56222444 20100804_snps_514813_chr1_115225238 1.79e-02 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 HGSV 270 NC_000001.10:g.115225261G>A;NG_008012.1:g.17916C>T;NM_000036.2:c.646+1559C>T;NM_001172626.1:c.634+1559C>T 77254750 55838131 Cor12156_SNV_20070510.chr1_114937303 1.37e-02 2007.10.10 2007.10.12 2007.12.06 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225261G>A;NG_008012.1:g.17916C>T;NM_000036.2:c.646+1559C>T;NM_001172626.1:c.634+1559C>T 454333774 55838131 20101123_snps_501004_chr1_115225261 1.37e-02 2011.07.20 2011.07.20 2007.12.06 2012.11.28 137 HGSV 270 NC_000001.10:g.115225268C>T;NG_008012.1:g.17909G>A;NM_000036.2:c.646+1552G>A;NM_001172626.1:c.634+1552G>A 77159451 55783625 Cor12156_SNV_20070510.chr1_114937310 1.37e-02 2007.10.09 2007.10.11 2007.12.06 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225268C>T;NG_008012.1:g.17909G>A;NM_000036.2:c.646+1552G>A;NM_001172626.1:c.634+1552G>A 454333775 55783625 20101123_snps_501005_chr1_115225268 1.37e-02 2011.07.20 2011.07.20 2007.12.06 2012.11.28 137 HGSV 270 NC_000001.10:g.115225269A>G;NG_008012.1:g.17908T>C;NM_000036.2:c.646+1551T>C;NM_001172626.1:c.634+1551T>C 77177698 55918151 Cor12156_SNV_20070510.chr1_114937311 1.19e-02 2007.10.09 2007.10.11 2007.12.06 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225269A>G;NG_008012.1:g.17908T>C;NM_000036.2:c.646+1551T>C;NM_001172626.1:c.634+1551T>C 454333776 55918151 20101123_snps_501006_chr1_115225269 1.19e-02 2011.07.20 2011.07.20 2007.12.06 2012.11.28 137 WI_SSAHASNP 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 11402112 7541903 chr1.NT_019273.15_5661097 2.38e-01 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 WUGSC_SSAHASNP 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 14458970 7541903 chr1.NT_019273.16_6221241 2.38e-01 2003.11.07 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 19851022 7541903 CSHL-HuFF-200402.chr1.NT_019273.16_6221241 2.38e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 20602055 7541903 WGSA-200403-chr1.chr1.NT_019273.16_6221241 2.38e-01 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 ABI 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 41066519 7541903 hCV30335747 2.38e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 77325883 7541903 Cor12156_SNV_20070510.chr1_114937335 2.38e-01 2007.10.10 2007.10.12 2003.07.11 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 87730625 7541903 JWB-0108795 2.38e-01 2008.02.26 2008.02.26 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 97969163 7541903 1103675202585 2.38e-01 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 138064400 7541903 ENSSNP7218414 2.38e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 139270204 7541903 ENSSNP20416 2.38e-01 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 155559930 7541903 GMI_SNP_238414817 2.38e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 163941840 7541903 NA19240_36_chr1_115026816 2.38e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 198961450 7541903 BUSHMAN-chr1-115026815 2.38e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 205530081 7541903 BCM_CMT_1011-243957 2.38e-01 2010.03.16 2010.03.16 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 275986654 7541903 GMI_AK_SNP_306817 2.38e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 290603373 7541903 SNP_109731_chr1_115026816 2.38e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225293G>A;NG_008012.1:g.17884C>T;NM_000036.2:c.646+1527C>T;NM_001172626.1:c.634+1527C>T 328871278 7541903 20100804_snps_514814_chr1_115225293 2.38e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225398A>G;NG_008012.1:g.17779T>C;NM_000036.2:c.646+1422T>C;NM_001172626.1:c.634+1422T>C 454333777 187453366 20101123_snps_501007_chr1_115225398 8.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115225405T>A;NG_008012.1:g.17772A>T;NM_000036.2:c.646+1415A>T;NM_001172626.1:c.634+1415A>T 454333778 193189207 20101123_snps_501008_chr1_115225405 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115225408C>T;NG_008012.1:g.17769G>A;NM_000036.2:c.646+1412G>A;NM_001172626.1:c.634+1412G>A 454333779 182960166 20101123_snps_501009_chr1_115225408 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115225411A>G;NG_008012.1:g.17766T>C;NM_000036.2:c.646+1409T>C;NM_001172626.1:c.634+1409T>C 454333780 188455661 20101123_snps_501010_chr1_115225411 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115225586A>T;NG_008012.1:g.17591T>A;NM_000036.2:c.646+1234T>A;NM_001172626.1:c.634+1234T>A 454333781 192150094 20101123_snps_501011_chr1_115225586 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115225591A>G;NG_008012.1:g.17586T>C;NM_000036.2:c.646+1229T>C;NM_001172626.1:c.634+1229T>C 454333782 183666158 20101123_snps_501012_chr1_115225591 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 270 NC_000001.10:g.115225623_115225624insT;NG_008012.1:g.17553_17554insA;NM_000036.2:c.646+1196_646+1197insA;NM_001172626.1:c.634+1196_634+1197insA 102276374 72420107 INDEL_GP36_2008a_1075710_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115225659G>A;NG_008012.1:g.17518C>T;NM_000036.2:c.646+1161C>T;NM_001172626.1:c.634+1161C>T 454333783 189213166 20101123_snps_501013_chr1_115225659 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 270 NC_000001.10:g.115225735A>G;NG_008012.1:g.17442T>C;NM_000036.2:c.646+1085T>C;NM_001172626.1:c.634+1085T>C 275986655 139545229 GMI_AK_SNP_306818 2.30e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225735A>G;NG_008012.1:g.17442T>C;NM_000036.2:c.646+1085T>C;NM_001172626.1:c.634+1085T>C 328871279 139545229 20100804_snps_514815_chr1_115225735 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115225735A>G;NG_008012.1:g.17442T>C;NM_000036.2:c.646+1085T>C;NM_001172626.1:c.634+1085T>C 491600809 139545229 SNV-chr1-115027258 2.30e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115225789A>G;NG_008012.1:g.17388T>C;NM_000036.2:c.646+1031T>C;NM_001172626.1:c.634+1031T>C 454333784 192407811 20101123_snps_501014_chr1_115225789 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115225850C>T;NG_008012.1:g.17327G>A;NM_000036.2:c.646+970G>A;NM_001172626.1:c.634+970G>A 328871280 145267957 20100804_snps_514816_chr1_115225850 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115225850C>T;NG_008012.1:g.17327G>A;NM_000036.2:c.646+970G>A;NM_001172626.1:c.634+970G>A 491600810 145267957 SNV-chr1-115027373 5.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115226072A>G;NG_008012.1:g.17105T>C;NM_000036.2:c.646+748T>C;NM_001172626.1:c.634+748T>C 454333785 184819473 20101123_snps_501015_chr1_115226072 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115226093A>T;NG_008012.1:g.17084T>A;NM_000036.2:c.646+727T>A;NM_001172626.1:c.634+727T>A 108541046 72687866 CEU.trio.12.15.2008_148145_chr1_115027616 1.05e-02 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115226093A>T;NG_008012.1:g.17084T>A;NM_000036.2:c.646+727T>A;NM_001172626.1:c.634+727T>A 328871281 72687866 20100804_snps_514817_chr1_115226093 1.05e-02 2011.03.22 2011.03.22 2009.02.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115226135T>C;NG_008012.1:g.17042A>G;NM_000036.2:c.646+685A>G;NM_001172626.1:c.634+685A>G 454333786 189938923 20101123_snps_501016_chr1_115226135 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 270 NC_000001.10:g.115226238A>G;NG_008012.1:g.16939T>C;NM_000036.2:c.646+582T>C;NM_001172626.1:c.634+582T>C 275986656 201542733 GMI_AK_SNP_306819 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 SC_SNP 270 NC_000001.10:g.115226277G>A;NG_008012.1:g.16900C>T;NM_000036.2:c.646+543C>T;NM_001172626.1:c.634+543C>T 18097825 12036263 SC-CHR1_NA11321-200402.chr1.NT_019273.16_6222225 1.58e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115226277G>A;NG_008012.1:g.16900C>T;NM_000036.2:c.646+543C>T;NM_001172626.1:c.634+543C>T 155559938 12036263 GMI_SNP_72233776 1.58e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115226277G>A;NG_008012.1:g.16900C>T;NM_000036.2:c.646+543C>T;NM_001172626.1:c.634+543C>T 275986657 12036263 GMI_AK_SNP_306820 1.58e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115226277G>A;NG_008012.1:g.16900C>T;NM_000036.2:c.646+543C>T;NM_001172626.1:c.634+543C>T 328871282 12036263 20100804_snps_514818_chr1_115226277 1.58e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115226291G>A;NG_008012.1:g.16886C>T;NM_000036.2:c.646+529C>T;NM_001172626.1:c.634+529C>T 99242738 71664861 1103675202577 2008.04.03 2008.04.03 2009.02.13 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115226315G>A;NG_008012.1:g.16862C>T;NM_000036.2:c.646+505C>T;NM_001172626.1:c.634+505C>T 454333787 182167407 20101123_snps_501017_chr1_115226315 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 270 NC_000001.10:g.115226379T>C;NG_008012.1:g.16798A>G;NM_000036.2:c.646+441A>G;NM_001172626.1:c.634+441A>G 155559947 78095624 GMI_SNP_100751690 4.10e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115226379T>C;NG_008012.1:g.16798A>G;NM_000036.2:c.646+441A>G;NM_001172626.1:c.634+441A>G 275986658 78095624 GMI_AK_SNP_306821 4.10e-03 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115226379T>C;NG_008012.1:g.16798A>G;NM_000036.2:c.646+441A>G;NM_001172626.1:c.634+441A>G 454333788 78095624 20101123_snps_501018_chr1_115226379 4.10e-03 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 ABI 270 NC_000001.10:g.115226510_115226511insA;NG_008012.1:g.16666_16667insT;NM_000036.2:c.646+309_646+310insT;NM_001172626.1:c.634+309_634+310insT 41285627 35241478 hCV33603847 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BUSHMAN 270 NC_000001.10:g.115226651T>C;NG_008012.1:g.16526A>G;NM_000036.2:c.646+169A>G;NM_001172626.1:c.634+169A>G 198961455 79610287 BUSHMAN-chr1-115028173 5.17e-02 2010.03.06 2010.03.06 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115226651T>C;NG_008012.1:g.16526A>G;NM_000036.2:c.646+169A>G;NM_001172626.1:c.634+169A>G 230701006 79610287 pilot_1_CEU_305635_chr1_115028174 5.17e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115226651T>C;NG_008012.1:g.16526A>G;NM_000036.2:c.646+169A>G;NM_001172626.1:c.634+169A>G 275986659 79610287 GMI_AK_SNP_306822 5.17e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115226658G>A;NG_008012.1:g.16519C>T;NM_000036.2:c.646+162C>T;NM_001172626.1:c.634+162C>T 328871283 142227917 20100804_snps_514819_chr1_115226658 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 270 NC_000001.10:g.115226855C>T;NG_008012.1:g.16322G>A;NM_000036.2:c.611G>A;NM_001172626.1:c.599G>A;NP_000027.2:p.Gly204Asp;NP_001166097.1:p.Gly200Asp 341983610 142582318 ESP2500-chr1-115226855 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115226855C>T;NG_008012.1:g.16322G>A;NM_000036.2:c.611G>A;NM_001172626.1:c.599G>A;NP_000027.2:p.Gly204Asp;NP_001166097.1:p.Gly200Asp 491298731 142582318 nonsyn_14958_chr_1_115226855 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115226855C>T;NG_008012.1:g.16322G>A;NM_000036.2:c.611G>A;NM_001172626.1:c.599G>A;NP_000027.2:p.Gly204Asp;NP_001166097.1:p.Gly200Asp 491600811 142582318 SNV-chr1-115028378 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115226899C>A;NG_008012.1:g.16278G>T;NM_000036.2:c.567G>T;NM_001172626.1:c.555G>T;NP_000027.2:p.Gln189His;NP_001166097.1:p.Gln185His 341983612 139582106 ESP2500-chr1-115226899 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115226899C>A;NG_008012.1:g.16278G>T;NM_000036.2:c.567G>T;NM_001172626.1:c.555G>T;NP_000027.2:p.Gln189His;NP_001166097.1:p.Gln185His 491298732 139582106 nonsyn_14959_chr_1_115226899 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115226899C>A;NG_008012.1:g.16278G>T;NM_000036.2:c.567G>T;NM_001172626.1:c.555G>T;NP_000027.2:p.Gln189His;NP_001166097.1:p.Gln185His 491600812 139582106 SNV-chr1-115028422 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115226927C>T;NG_008012.1:g.16250G>A;NM_000036.2:c.539G>A;NM_001172626.1:c.527G>A;NP_000027.2:p.Arg180His;NP_001166097.1:p.Arg176His 341983614 147852547 ESP2500-chr1-115226927 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115226928G>A;NG_008012.1:g.16249C>T;NM_000036.2:c.538C>T;NM_001172626.1:c.526C>T;NP_000027.2:p.Arg180Cys;NP_001166097.1:p.Arg176Cys 341983616 147035391 ESP2500-chr1-115226928 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115226973C>T;NG_008012.1:g.16204G>A;NM_000036.2:c.493G>A;NM_001172626.1:c.481G>A;NP_000027.2:p.Asp165Asn;NP_001166097.1:p.Asp161Asn 341983618 149160130 ESP2500-chr1-115226973 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115226973C>T;NG_008012.1:g.16204G>A;NM_000036.2:c.493G>A;NM_001172626.1:c.481G>A;NP_000027.2:p.Asp165Asn;NP_001166097.1:p.Asp161Asn 491298733 149160130 nonsyn_14960_chr_1_115226973 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115226991A>C;NG_008012.1:g.16186T>G;NM_000036.2:c.481-6T>G;NM_001172626.1:c.469-6T>G 138064401 77923723 ENSSNP11611749 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115227004T>G;NG_008012.1:g.16173A>C;NM_000036.2:c.481-19A>C;NM_001172626.1:c.469-19A>C 454333789 189874221 20101123_snps_501019_chr1_115227004 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 270 NC_000001.10:g.115227147_115227148insC;NG_008012.1:g.16029_16030insG;NM_000036.2:c.481-163_481-162insG;NM_001172626.1:c.469-163_469-162insG 41277082 35468504 hCV33603852 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BUSHMAN 270 NC_000001.10:g.115227227G>C;NG_008012.1:g.15950C>G;NM_000036.2:c.481-242C>G;NM_001172626.1:c.469-242C>G 198961459 113523399 BUSHMAN-chr1-115028749 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115227320C>T;NG_008012.1:g.15857G>A;NM_000036.2:c.481-335G>A;NM_001172626.1:c.469-335G>A 454333790 180746408 20101123_snps_501020_chr1_115227320 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115227366A>G;NG_008012.1:g.15811T>C;NM_000036.2:c.481-381T>C;NM_001172626.1:c.469-381T>C 328871284 151214359 20100804_snps_514820_chr1_115227366 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115227416G>T;NG_008012.1:g.15761C>A;NM_000036.2:c.481-431C>A;NM_001172626.1:c.469-431C>A 454333791 185405405 20101123_snps_501021_chr1_115227416 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115227451G>A;NG_008012.1:g.15726C>T;NM_000036.2:c.481-466C>T;NM_001172626.1:c.469-466C>T 454333792 189972346 20101123_snps_501022_chr1_115227451 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 3202535 2268697 IMS-JST022619 4.56e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 19854206 2268697 CSHL-HuFF-200402.chr1.NT_019273.16_6223441 4.56e-01 2004.02.21 2004.03.04 2001.09.28 2012.11.28 137 ABI 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 43815257 2268697 hCV15875108 4.56e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 46534665 2268697 PS00682750 4.56e-01 2005.08.01 2005.08.01 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 65921976 2268697 SNP_A-1646148 4.56e-01 2006.10.26 2006.10.26 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 66096458 2268697 SNP_A-1962933 4.56e-01 2006.10.27 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 66709968 2268697 HumanHap300v1.1_rs2268697 4.56e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 67239462 2268697 HumanHap550v1.1_rs2268697 4.56e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 67636031 2268697 HumanHap650Yv1.0_rs2268697 4.56e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 70717798 2268697 HumanHap550v3.0__rs2268697 4.56e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 71285948 2268697 HumanHap650Yv3.0_rs2268697 4.56e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 75625832 2268697 ILMN_Human_1M_rs2268697 4.56e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 76057673 2268697 AFFY_6_1M_SNP_A-1962933 4.56e-01 2007.08.29 2010.03.07 2001.09.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 77582612 2268697 Cor12156_SNV_20070510.chr1_114939535 4.56e-01 2007.10.13 2007.10.13 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 79124484 2268697 HumanHap300v2.0_rs2268697 4.56e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 84013344 2268697 KHS601805 4.56e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 87730629 2268697 JWB-0108796 4.56e-01 2008.02.26 2008.02.26 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 99242739 2268697 1103675202578 4.56e-01 2008.04.03 2008.04.03 2001.09.28 2012.11.28 137 BGI 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 106596537 2268697 BGI_rs2268697 4.56e-01 2008.09.17 2009.06.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 108541050 2268697 CEU.trio.12.15.2008_148146_chr1_115029016 4.56e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 111044761 2268697 NA19240_2008_12_16_135330_chr1_115029016 4.56e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 121973344 2268697 HumanCNV370v1_C_rs2268697 4.56e-01 2009.04.14 2009.04.14 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 131642276 2268697 ENSSNP20417 4.56e-01 2009.05.11 2009.10.14 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 138064402 2268697 ENSSNP7088423 4.56e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 153896478 2268697 Human610_Quadv1_B_rs2268697-128_T_F_1501718882 4.56e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 159374321 2268697 Human660W-Quad_v1_A_rs2268697-128_T_F_1501718882 4.56e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 160524269 2268697 HumanOmni1-Quad_v1-0_B_rs2268697-128_T_F_1501718882 4.56e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 163941849 2268697 NA19240_36_chr1_115029016 4.56e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 171136930 2268697 HumanCNV370-Quadv3_C_rs2268697-128_T_F_1501718882 4.56e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 172349196 2268697 GenomeWideSNP_5_SNP_A-1962933 4.56e-01 2009.10.02 2009.10.02 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 173227604 2268697 Human1M-Duov3_B_rs2268697-128_T_F_1501718882 4.56e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 198961461 2268697 BUSHMAN-chr1-115029015 4.56e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 205087812 2268697 BCM_CMT_1011-24517 4.56e-01 2010.03.15 2010.03.15 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 218609413 2268697 pilot_1_YRI_419096_chr1_115029016 4.56e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 230701007 2268697 pilot_1_CEU_305636_chr1_115029016 4.56e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 238356374 2268697 pilot_1_CHB+JPT_241451_chr1_115029016 4.56e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 275986660 2268697 GMI_AK_SNP_306823 4.56e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 290603374 2268697 SNP_109732_chr1_115029016 4.56e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 480493309 2268697 HumanOmni2.5-4v1_B_rs2268697-128_T_F_1673415262 4.56e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 480507659 2268697 HumanOmniExpress-12v1_C_rs2268697-131_T_F_1857177908 4.56e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 481311373 2268697 HumanOmni1-Quad_v1-0_C_rs2268697-131_T_F_1865655719 4.56e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227493G>A;NG_008012.1:g.15684C>T;NM_000036.2:c.481-508C>T;NM_001172626.1:c.469-508C>T 485044172 2268697 HumanOmni2.5-4v1_D_rs2268697-131_T_F_1857177908 4.56e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227505C>T;NG_008012.1:g.15672G>A;NM_000036.2:c.481-520G>A;NM_001172626.1:c.469-520G>A 454333793 183318558 20101123_snps_501023_chr1_115227505 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115227528G>A;NG_008012.1:g.15649C>T;NM_000036.2:c.481-543C>T;NM_001172626.1:c.469-543C>T 238356375 117768080 pilot_1_CHB+JPT_241452_chr1_115029051 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 YUSUKE 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 3202536 2268698 IMS-JST022620 2.10e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 66210480 2268698 SNP_A-2309711 2.10e-01 2006.10.28 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 75268584 2268698 ILMN_Human_1M_rs2268698 2.10e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 76308050 2268698 AFFY_6_1M_SNP_A-2309711 2.10e-01 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 81743967 2268698 KHS133852 2.10e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 83527718 2268698 Cor18555_SNV_20070510.chr1_114939642 2.10e-01 2007.12.05 2007.12.05 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 160524270 2268698 HumanOmni1-Quad_v1-0_B_rs2268698-128_T_F_1514249738 2.10e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 173207301 2268698 GenomeWideSNP_5_SNP_A-2309711 2.10e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 173227608 2268698 Human1M-Duov3_B_rs2268698-128_T_F_1514249738 2.10e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 218609414 2268698 pilot_1_YRI_419097_chr1_115029123 2.10e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 230701008 2268698 pilot_1_CEU_305637_chr1_115029123 2.10e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 238356376 2268698 pilot_1_CHB+JPT_241453_chr1_115029123 2.10e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 244288847 2268698 CVDSNP55v1_A_rs2268698 2.10e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 275986661 2268698 GMI_AK_SNP_306824 2.10e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 480493312 2268698 HumanOmni2.5-4v1_B_rs2268698-128_T_F_1617289979 2.10e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 480507663 2268698 HumanOmniExpress-12v1_C_rs2268698-131_T_F_1857177909 2.10e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 481311377 2268698 HumanOmni1-Quad_v1-0_C_rs2268698-131_T_F_1865751374 2.10e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227600G>C;NG_008012.1:g.15577C>G;NM_000036.2:c.481-615C>G;NM_001172626.1:c.469-615C>G 485044174 2268698 HumanOmni2.5-4v1_D_rs2268698-131_T_F_1857177909 2.10e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227662G>C;NG_008012.1:g.15515C>G;NM_000036.2:c.481-677C>G;NM_001172626.1:c.469-677C>G 328871285 140451851 20100804_snps_514821_chr1_115227662 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115227706A>T;NG_008012.1:g.15471T>A;NM_000036.2:c.481-721T>A;NM_001172626.1:c.469-721T>A 328871286 150400627 20100804_snps_514822_chr1_115227706 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115227730G>A;NG_008012.1:g.15447C>T;NM_000036.2:c.481-745C>T;NM_001172626.1:c.469-745C>T 328871287 146591109 20100804_snps_514823_chr1_115227730 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115227761T>C;NG_008012.1:g.15416A>G;NM_000036.2:c.481-776A>G;NM_001172626.1:c.469-776A>G 328871288 141287073 20100804_snps_514824_chr1_115227761 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 270 NC_000001.10:g.115227875A>G;NG_008012.1:g.15302T>C;NM_000036.2:c.481-890T>C;NM_001172626.1:c.469-890T>C 275986662 201656046 GMI_AK_SNP_306825 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 YUSUKE 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 3202537 2268699 IMS-JST022621 4.72e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 9866807 2268699 chr1.NT_019273.15_5663700 4.72e-01 2003.06.28 2004.05.28 2001.09.28 2012.11.28 137 ABI 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 43965339 2268699 hCV15875097 4.72e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 66775426 2268699 HumanHap300v1.1_rs2268699 4.72e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 67239463 2268699 HumanHap550v1.1_rs2268699 4.72e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 67636032 2268699 HumanHap650Yv1.0_rs2268699 4.72e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 70717799 2268699 HumanHap550v3.0__rs2268699 4.72e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 71285949 2268699 HumanHap650Yv3.0_rs2268699 4.72e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 75780039 2268699 ILMN_Human_1M_rs2268699 4.72e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 76565676 2268699 AFFY_6_1M_SNP_A-8426636 4.72e-01 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 77561640 2268699 Cor12156_SNV_20070510.chr1_114939938 4.72e-01 2007.10.13 2007.10.13 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 79124485 2268699 HumanHap300v2.0_rs2268699 4.72e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 84013347 2268699 KHS601806 4.72e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 85658448 2268699 Cor18517_SNV_20070510.chr1_114939938 4.72e-01 2007.12.09 2007.12.09 2001.09.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 87730633 2268699 JWB-0108797 4.72e-01 2008.02.26 2008.02.26 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 99242740 2268699 1103675202579 4.72e-01 2008.04.03 2008.04.03 2001.09.28 2012.11.28 137 BGI 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 106596538 2268699 BGI_rs2268699 4.72e-01 2008.09.17 2009.06.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 108541054 2268699 CEU.trio.12.15.2008_148147_chr1_115029419 4.72e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 121973350 2268699 HumanCNV370v1_C_rs2268699 4.72e-01 2009.04.14 2009.04.14 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 131642279 2268699 ENSSNP20418 4.72e-01 2009.05.11 2009.10.14 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 138064403 2268699 ENSSNP6800799 4.72e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 153896479 2268699 Human610_Quadv1_B_rs2268699-128_B_R_1501710170 4.72e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 159374322 2268699 Human660W-Quad_v1_A_rs2268699-128_B_R_1501710170 4.72e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 163941861 2268699 NA19240_36_chr1_115029419 4.72e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 171136940 2268699 HumanCNV370-Quadv3_C_rs2268699-128_B_R_1501710170 4.72e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 173227612 2268699 Human1M-Duov3_B_rs2268699-128_B_R_1501710170 4.72e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 198961466 2268699 BUSHMAN-chr1-115029418 4.72e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 205080329 2268699 BCM_CMT_1011-20913 4.72e-01 2010.03.15 2010.03.15 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 210622894 2268699 YRI.trio.3.2010_59417_chr1_115029419 4.72e-01 2010.03.29 2010.03.29 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 218609415 2268699 pilot_1_YRI_419098_chr1_115029419 4.72e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 230701009 2268699 pilot_1_CEU_305638_chr1_115029419 4.72e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 238356377 2268699 pilot_1_CHB+JPT_241454_chr1_115029419 4.72e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 253401825 2268699 SNP120184_1_115029419 4.72e-01 2010.08.18 2010.08.18 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 275986663 2268699 GMI_AK_SNP_306826 4.72e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 270 NC_000001.10:g.115227896A>C;NG_008012.1:g.15281T>G;NM_000036.2:c.481-911T>G;NM_001172626.1:c.469-911T>G 290603375 2268699 SNP_109733_chr1_115029419 4.72e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227908C>T;NG_008012.1:g.15269G>A;NM_000036.2:c.481-923G>A;NM_001172626.1:c.469-923G>A 230701010 74851252 pilot_1_CEU_305639_chr1_115029431 5.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115227943T>G;NG_008012.1:g.15234A>C;NM_000036.2:c.481-958A>C;NM_001172626.1:c.469-958A>C 454333794 187646025 20101123_snps_501024_chr1_115227943 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115228401A>C;NG_008012.1:g.14776T>G;NM_000036.2:c.480+965T>G;NM_001172626.1:c.468+965T>G 328871289 145129040 20100804_snps_514825_chr1_115228401 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115228507C>T;NG_008012.1:g.14670G>A;NM_000036.2:c.480+859G>A;NM_001172626.1:c.468+859G>A 454333795 191572526 20101123_snps_501025_chr1_115228507 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115228565G>A;NG_008012.1:g.14612C>T;NM_000036.2:c.480+801C>T;NM_001172626.1:c.468+801C>T 328871290 138973178 20100804_snps_514826_chr1_115228565 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 270 NC_000001.10:g.115228588T>A;NG_008012.1:g.14589A>T;NM_000036.2:c.480+778A>T;NM_001172626.1:c.468+778A>T 11406156 7543893 chr1.NT_019273.15_5664392 3.20e-03 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228588T>A;NG_008012.1:g.14589A>T;NM_000036.2:c.480+778A>T;NM_001172626.1:c.468+778A>T 218609416 7543893 pilot_1_YRI_419099_chr1_115030111 3.20e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228609C>T;NG_008012.1:g.14568G>A;NM_000036.2:c.480+757G>A;NM_001172626.1:c.468+757G>A 454333796 183697320 20101123_snps_501026_chr1_115228609 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115228647G>C;NG_008012.1:g.14530C>G;NM_000036.2:c.480+719C>G;NM_001172626.1:c.468+719C>G 454333797 187841301 20101123_snps_501027_chr1_115228647 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115228685G>T;NG_008012.1:g.14492C>A;NM_000036.2:c.480+681C>A;NM_001172626.1:c.468+681C>A 328871291 142116040 20100804_snps_514827_chr1_115228685 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 270 NC_000001.10:g.115228706T>G;NG_008012.1:g.14471A>C;NM_000036.2:c.480+660A>C;NM_001172626.1:c.468+660A>C 86127613 57771663 Cor18517_SNV_20070510.chr1_114940748 2.34e-02 2007.12.11 2007.12.11 2007.12.15 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115228706T>G;NG_008012.1:g.14471A>C;NM_000036.2:c.480+660A>C;NM_001172626.1:c.468+660A>C 218609417 57771663 pilot_1_YRI_419100_chr1_115030229 2.34e-02 2010.04.22 2010.04.22 2007.12.15 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115228797T>C;NG_008012.1:g.14380A>G;NM_000036.2:c.480+569A>G;NM_001172626.1:c.468+569A>G 218609418 114912995 pilot_1_YRI_419101_chr1_115030320 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115228861T>G;NG_008012.1:g.14316A>C;NM_000036.2:c.480+505A>C;NM_001172626.1:c.468+505A>C 454333798 191503391 20101123_snps_501028_chr1_115228861 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 3202538 2268700 IMS-JST022622 4.61e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 11406702 2268700 chr1.NT_019273.15_5664683 4.61e-01 2003.07.03 2003.10.10 2001.09.28 2012.11.28 137 ABI 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 41143654 2268700 hCV26680536 4.61e-01 2005.07.17 2005.07.17 2001.09.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 83607365 2268700 Cor18956_SNV_20070510.chr1_114940921 4.61e-01 2007.12.05 2007.12.05 2001.09.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 87730637 2268700 JWB-0108798 4.61e-01 2008.02.26 2008.02.26 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 99242741 2268700 1103675202580 4.61e-01 2008.04.03 2008.04.03 2001.09.28 2012.11.28 137 BGI 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 106596539 2268700 BGI_rs2268700 4.61e-01 2008.09.17 2009.06.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 108541058 2268700 CEU.trio.12.15.2008_148148_chr1_115030402 4.61e-01 2008.12.16 2008.12.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 111044767 2268700 NA19240_2008_12_16_135331_chr1_115030402 4.61e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 138064404 2268700 ENSSNP6591467 4.61e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 139270201 2268700 ENSSNP20419 4.61e-01 2009.05.18 2009.10.16 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 163941870 2268700 NA19240_36_chr1_115030402 4.61e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 167025334 2268700 NA20431_36_chr1_115030402 4.61e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 198961470 2268700 BUSHMAN-chr1-115030401 4.61e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 205259384 2268700 BCM_CMT_1011-109429 4.61e-01 2010.03.15 2010.03.15 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 218609419 2268700 pilot_1_YRI_419102_chr1_115030402 4.61e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 230701011 2268700 pilot_1_CEU_305640_chr1_115030402 4.61e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 238356378 2268700 pilot_1_CHB+JPT_241455_chr1_115030402 4.61e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 253401829 2268700 SNP120185_1_115030402 4.61e-01 2010.08.18 2010.08.18 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 275986664 2268700 GMI_AK_SNP_306827 4.61e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 270 NC_000001.10:g.115228879T>G;NG_008012.1:g.14298A>C;NM_000036.2:c.480+487A>C;NM_001172626.1:c.468+487A>C 290603376 2268700 SNP_109734_chr1_115030402 4.61e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115228941A>G;NG_008012.1:g.14236T>C;NM_000036.2:c.480+425T>C;NM_001172626.1:c.468+425T>C 454333799 182631959 20101123_snps_501029_chr1_115228941 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115228965A>G;NG_008012.1:g.14212T>C;NM_000036.2:c.480+401T>C;NM_001172626.1:c.468+401T>C 454333800 186605414 20101123_snps_501030_chr1_115228965 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115229000C>T;NG_008012.1:g.14177G>A;NM_000036.2:c.480+366G>A;NM_001172626.1:c.468+366G>A 328871292 143821619 20100804_snps_514828_chr1_115229000 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115229058C>A;NG_008012.1:g.14119G>T;NM_000036.2:c.480+308G>T;NM_001172626.1:c.468+308G>T 218609420 114473838 pilot_1_YRI_419103_chr1_115030581 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229058C>A;NG_008012.1:g.14119G>T;NM_000036.2:c.480+308G>T;NM_001172626.1:c.468+308G>T 480933553 114473838 HumanOmni2.5-4v1_D_kgp15745850-0_B_R_1837738516 1.40e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229058C>A;NG_008012.1:g.14119G>T;NM_000036.2:c.480+308G>T;NM_001172626.1:c.468+308G>T 482079318 114473838 HumanOmni2.5-4v1_B_SNP1-115030581-0_B_R_1631258639 1.40e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229138T>C;NG_008012.1:g.14039A>G;NM_000036.2:c.480+228A>G;NM_001172626.1:c.468+228A>G 328871293 148155502 20100804_snps_514829_chr1_115229138 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 270 NC_000001.10:g.115229161T>C;NG_008012.1:g.14016A>G;NM_000036.2:c.480+205A>G;NM_001172626.1:c.468+205A>G 118985587 74113509 NA18507_000134299_NCBI36.1_chr1_115030684 3.71e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 GMI 270 NC_000001.10:g.115229161T>C;NG_008012.1:g.14016A>G;NM_000036.2:c.480+205A>G;NM_001172626.1:c.468+205A>G 155559954 74113509 GMI_SNP_36431074 3.71e-02 2009.06.24 2009.06.24 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229161T>C;NG_008012.1:g.14016A>G;NM_000036.2:c.480+205A>G;NM_001172626.1:c.468+205A>G 218609421 74113509 pilot_1_YRI_419104_chr1_115030684 3.71e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229161T>C;NG_008012.1:g.14016A>G;NM_000036.2:c.480+205A>G;NM_001172626.1:c.468+205A>G 230701012 74113509 pilot_1_CEU_305641_chr1_115030684 3.71e-02 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229161T>C;NG_008012.1:g.14016A>G;NM_000036.2:c.480+205A>G;NM_001172626.1:c.468+205A>G 238356379 74113509 pilot_1_CHB+JPT_241456_chr1_115030684 3.71e-02 2010.05.01 2010.05.01 2009.02.15 2012.11.28 137 GMI 270 NC_000001.10:g.115229161T>C;NG_008012.1:g.14016A>G;NM_000036.2:c.480+205A>G;NM_001172626.1:c.468+205A>G 275986665 74113509 GMI_AK_SNP_306828 3.71e-02 2010.12.16 2010.12.16 2009.02.15 2012.11.28 137 SC_SNP 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 18858960 12354159 SC-CHR9-12_NA07340-200402.chr1.NT_019273.16_6225227 2.47e-02 2004.02.20 2008.03.31 2004.02.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 66207865 12354159 SNP_A-2302431 2.47e-02 2006.10.28 2008.03.31 2004.02.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 76302617 12354159 AFFY_6_1M_SNP_A-2302431 2.47e-02 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 82973169 12354159 KHS366221 2.47e-02 2007.12.04 2007.12.04 2004.02.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 84799528 12354159 Cor19240_SNV_20070510.chr1_114941321 2.47e-02 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 111044777 12354159 NA19240_2008_12_16_135332_chr1_115030802 2.47e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 118985591 12354159 NA18507_000134300_NCBI36.1_chr1_115030802 2.47e-02 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 163941880 12354159 NA19240_36_chr1_115030802 2.47e-02 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 198961473 12354159 BUSHMAN-chr1-115030801 2.47e-02 2010.03.06 2010.03.06 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 218609422 12354159 pilot_1_YRI_419105_chr1_115030802 2.47e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 PJP 270 NC_000001.10:g.115229279A>G;NG_008012.1:g.13898T>C;NM_000036.2:c.480+87T>C;NM_001172626.1:c.468+87T>C 290603377 12354159 SNP_109735_chr1_115030802 2.47e-02 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115229365C>G;NG_008012.1:g.13812G>C;NM_000036.2:c.480+1G>C;NM_001172626.1:c.468+1G>C 341983619 143303736 ESP2500-chr1-115229365 1.40e-03 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229365C>G;NG_008012.1:g.13812G>C;NM_000036.2:c.480+1G>C;NM_001172626.1:c.468+1G>C 454333801 143303736 20101123_snps_501031_chr1_115229365 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115229365C>G;NG_008012.1:g.13812G>C;NM_000036.2:c.480+1G>C;NM_001172626.1:c.468+1G>C 491298734 143303736 splice_14961_chr_1_115229365 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229387A>G;NG_008012.1:g.13790T>C;NM_000036.2:c.459T>C;NM_001172626.1:c.447T>C;NP_000027.2:p.Ile153=;NP_001166097.1:p.Ile149= 454333802 184683277 20101123_snps_501032_chr1_115229387 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CORNELL 270 NC_000001.10:g.115229413C>T;NG_008012.1:g.13764G>A;NM_000036.2:c.433G>A;NM_001172626.1:c.421G>A;NP_000027.2:p.Val145Met;NP_001166097.1:p.Val141Met 86262359 61741025 hCV25952142 2.30e-03 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229413C>T;NG_008012.1:g.13764G>A;NM_000036.2:c.433G>A;NM_001172626.1:c.421G>A;NP_000027.2:p.Val145Met;NP_001166097.1:p.Val141Met 161039966 61741025 HumanOmni1-Quad_v1-0_B_SNP1-115030936-0_T_R_1588077758 2.30e-03 2009.08.07 2009.10.05 2008.03.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229413C>T;NG_008012.1:g.13764G>A;NM_000036.2:c.433G>A;NM_001172626.1:c.421G>A;NP_000027.2:p.Val145Met;NP_001166097.1:p.Val141Met 218609423 61741025 pilot_1_YRI_419106_chr1_115030936 2.30e-03 2010.04.22 2010.04.22 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115229413C>T;NG_008012.1:g.13764G>A;NM_000036.2:c.433G>A;NM_001172626.1:c.421G>A;NP_000027.2:p.Val145Met;NP_001166097.1:p.Val141Met 341983621 61741025 ESP2500-chr1-115229413 2.30e-03 2011.03.25 2011.03.25 2008.03.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229413C>T;NG_008012.1:g.13764G>A;NM_000036.2:c.433G>A;NM_001172626.1:c.421G>A;NP_000027.2:p.Val145Met;NP_001166097.1:p.Val141Met 479216855 61741025 HumanOmni1-Quad_v1-0_C_kgp15722136-0_T_R_1837632143 2.30e-03 2012.01.30 2012.01.30 2008.03.23 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115229413C>T;NG_008012.1:g.13764G>A;NM_000036.2:c.433G>A;NM_001172626.1:c.421G>A;NP_000027.2:p.Val145Met;NP_001166097.1:p.Val141Met 491298735 61741025 nonsyn_14962_chr_1_115229413 2.30e-03 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115229414G>C;NG_008012.1:g.13763C>G;NM_000036.2:c.432C>G;NM_001172626.1:c.420C>G;NP_000027.2:p.Thr144=;NP_001166097.1:p.Thr140= 341983623 138479739 ESP2500-chr1-115229414 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 BUSHMAN 270 NC_000001.10:g.115229415G>T;NG_008012.1:g.13762C>A;NM_000036.2:c.431C>A;NM_001172626.1:c.419C>A;NP_000027.2:p.Thr144Asn;NP_001166097.1:p.Thr140Asn 198961479 113506010 BUSHMAN-chr1-115030937 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115229446C>G;NG_008012.1:g.13731G>C;NM_000036.2:c.400G>C;NM_001172626.1:c.388G>C;NP_000027.2:p.Glu134Gln;NP_001166097.1:p.Glu130Gln 454333803 189060095 20101123_snps_501033_chr1_115229446 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 270 NC_000001.10:g.115229492G>A;NG_008012.1:g.13685C>T;NM_000036.2:c.354C>T;NM_001172626.1:c.342C>T;NP_000027.2:p.Ser118=;NP_001166097.1:p.Ser114= 341983626 139055091 ESP2500-chr1-115229492 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115229504A>C;NG_008012.1:g.13673T>G;NM_000036.2:c.342T>G;NM_001172626.1:c.330T>G;NP_000027.2:p.Thr114=;NP_001166097.1:p.Thr110= 218609424 115655141 pilot_1_YRI_419107_chr1_115031027 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115229504A>C;NG_008012.1:g.13673T>G;NM_000036.2:c.342T>G;NM_001172626.1:c.330T>G;NP_000027.2:p.Thr114=;NP_001166097.1:p.Thr110= 341983628 115655141 ESP2500-chr1-115229504 3.70e-03 2011.03.25 2011.03.25 2010.07.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229504A>C;NG_008012.1:g.13673T>G;NM_000036.2:c.342T>G;NM_001172626.1:c.330T>G;NP_000027.2:p.Thr114=;NP_001166097.1:p.Thr110= 480897214 115655141 HumanOmni2.5-4v1_D_kgp15611862-0_T_F_1837164832 3.70e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229504A>C;NG_008012.1:g.13673T>G;NM_000036.2:c.342T>G;NM_001172626.1:c.330T>G;NP_000027.2:p.Thr114=;NP_001166097.1:p.Thr110= 482079321 115655141 HumanOmni2.5-4v1_B_SNP1-115031027-0_T_F_1625923325 3.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115229511C>T;NG_008012.1:g.13666G>A;NM_000036.2:c.335G>A;NM_001172626.1:c.323G>A;NP_000027.2:p.Arg112Gln;NP_001166097.1:p.Arg108Gln 491600813 200543002 SNV-chr1-115031034 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 CANCER-GENOME 270 NC_000001.10:g.115229512G>A;NG_008012.1:g.13665C>T;NM_000036.2:c.334C>T;NM_001172626.1:c.322C>T;NP_000027.2:p.Arg112Trp;NP_001166097.1:p.Arg108Trp 86350960 61758863 368 1.80e-03 2008.01.25 2008.01.25 2008.03.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229512G>A;NG_008012.1:g.13665C>T;NM_000036.2:c.334C>T;NM_001172626.1:c.322C>T;NP_000027.2:p.Arg112Trp;NP_001166097.1:p.Arg108Trp 328871294 61758863 20100804_snps_514830_chr1_115229512 1.80e-03 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115229512G>A;NG_008012.1:g.13665C>T;NM_000036.2:c.334C>T;NM_001172626.1:c.322C>T;NP_000027.2:p.Arg112Trp;NP_001166097.1:p.Arg108Trp 341983630 61758863 ESP2500-chr1-115229512 1.80e-03 2011.03.25 2011.03.25 2008.03.23 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115229512G>A;NG_008012.1:g.13665C>T;NM_000036.2:c.334C>T;NM_001172626.1:c.322C>T;NP_000027.2:p.Arg112Trp;NP_001166097.1:p.Arg108Trp 491298736 61758863 nonsyn_14963_chr_1_115229512 1.80e-03 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 CORNELL 270 NC_000001.10:g.115229523C>T;NG_008012.1:g.13654G>A;NM_000036.2:c.323G>A;NM_001172626.1:c.311G>A;NP_000027.2:p.Arg108His;NP_001166097.1:p.Arg104His 86262635 61738827 hCV25953800 3.20e-03 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229523C>T;NG_008012.1:g.13654G>A;NM_000036.2:c.323G>A;NM_001172626.1:c.311G>A;NP_000027.2:p.Arg108His;NP_001166097.1:p.Arg104His 328871295 61738827 20100804_snps_514831_chr1_115229523 3.20e-03 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115229523C>T;NG_008012.1:g.13654G>A;NM_000036.2:c.323G>A;NM_001172626.1:c.311G>A;NP_000027.2:p.Arg108His;NP_001166097.1:p.Arg104His 341983631 61738827 ESP2500-chr1-115229523 3.20e-03 2011.03.25 2011.03.25 2008.03.23 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115229523C>T;NG_008012.1:g.13654G>A;NM_000036.2:c.323G>A;NM_001172626.1:c.311G>A;NP_000027.2:p.Arg108His;NP_001166097.1:p.Arg104His 491298737 61738827 nonsyn_14964_chr_1_115229523 3.20e-03 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115229523C>T;NG_008012.1:g.13654G>A;NM_000036.2:c.323G>A;NM_001172626.1:c.311G>A;NP_000027.2:p.Arg108His;NP_001166097.1:p.Arg104His 491600814 61738827 SNV-chr1-115031046 3.20e-03 2012.03.06 2012.03.12 2008.03.23 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115229524G>A;NG_008012.1:g.13653C>T;NM_000036.2:c.322C>T;NM_001172626.1:c.310C>T;NP_000027.2:p.Arg108Cys;NP_001166097.1:p.Arg104Cys 19857337 12566550 CSHL-HuFF-200402.chr1.NT_019273.16_6225472 5.00e-04 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ABI 270 NC_000001.10:g.115229524G>A;NG_008012.1:g.13653C>T;NM_000036.2:c.322C>T;NM_001172626.1:c.310C>T;NP_000027.2:p.Arg108Cys;NP_001166097.1:p.Arg104Cys 41107488 12566550 hCV26680542 5.00e-04 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229524G>A;NG_008012.1:g.13653C>T;NM_000036.2:c.322C>T;NM_001172626.1:c.310C>T;NP_000027.2:p.Arg108Cys;NP_001166097.1:p.Arg104Cys 160283025 12566550 HumanOmni1-Quad_v1-0_B_rs12566550-128_T_F_1562597189 5.00e-04 2009.08.06 2009.10.02 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115229524G>A;NG_008012.1:g.13653C>T;NM_000036.2:c.322C>T;NM_001172626.1:c.310C>T;NP_000027.2:p.Arg108Cys;NP_001166097.1:p.Arg104Cys 161161198 12566550 ENSSNP20420 5.00e-04 2009.09.24 2010.03.07 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229524G>A;NG_008012.1:g.13653C>T;NM_000036.2:c.322C>T;NM_001172626.1:c.310C>T;NP_000027.2:p.Arg108Cys;NP_001166097.1:p.Arg104Cys 454333804 12566550 20101123_snps_501034_chr1_115229524 5.00e-04 2011.07.20 2011.07.20 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115229524G>A;NG_008012.1:g.13653C>T;NM_000036.2:c.322C>T;NM_001172626.1:c.310C>T;NP_000027.2:p.Arg108Cys;NP_001166097.1:p.Arg104Cys 480348851 12566550 HumanOmni1-Quad_v1-0_C_rs12566550-131_T_F_1863310976 5.00e-04 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229579G>A;NG_008012.1:g.13598C>T;NM_000036.2:c.315-48C>T;NM_001172626.1:c.303-48C>T 328871296 139585917 20100804_snps_514832_chr1_115229579 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115229666C>A;NG_008012.1:g.13511G>T;NM_000036.2:c.315-135G>T;NM_001172626.1:c.303-135G>T 328871297 79168230 20100804_snps_514833_chr1_115229666 7.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229709G>A;NG_008012.1:g.13468C>T;NM_000036.2:c.315-178C>T;NM_001172626.1:c.303-178C>T 328871298 147157015 20100804_snps_514834_chr1_115229709 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115229729G>A;NG_008012.1:g.13448C>T;NM_000036.2:c.315-198C>T;NM_001172626.1:c.303-198C>T 328871299 140527693 20100804_snps_514835_chr1_115229729 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115229778G>T;NG_008012.1:g.13399C>A;NM_000036.2:c.315-247C>A;NM_001172626.1:c.303-247C>A 454333805 185355484 20101123_snps_501035_chr1_115229778 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115229814A>T;NG_008012.1:g.13363T>A;NM_000036.2:c.315-283T>A;NM_001172626.1:c.303-283T>A 328871300 75919038 20100804_snps_514836_chr1_115229814 4.10e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229857A>G;NG_008012.1:g.13320T>C;NM_000036.2:c.315-326T>C;NM_001172626.1:c.303-326T>C 111044785 72994428 NA19240_2008_12_16_135333_chr1_115031380 2.11e-02 2008.12.17 2008.12.17 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115229857A>G;NG_008012.1:g.13320T>C;NM_000036.2:c.315-326T>C;NM_001172626.1:c.303-326T>C 163941891 72994428 NA19240_36_chr1_115031380 2.11e-02 2009.09.29 2009.09.29 2009.02.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229857A>G;NG_008012.1:g.13320T>C;NM_000036.2:c.315-326T>C;NM_001172626.1:c.303-326T>C 218609425 72994428 pilot_1_YRI_419108_chr1_115031380 2.11e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 HGSV 270 NC_000001.10:g.115229956T>A;NG_008012.1:g.13221A>T;NM_000036.2:c.315-425A>T;NM_001172626.1:c.303-425A>T 85204636 58144625 Cor18517_SNV_20070510.chr1_114941998 5.00e-04 2007.12.08 2007.12.08 2007.12.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115229956T>A;NG_008012.1:g.13221A>T;NM_000036.2:c.315-425A>T;NM_001172626.1:c.303-425A>T 218609426 58144625 pilot_1_YRI_419109_chr1_115031479 5.00e-04 2010.04.22 2010.04.22 2007.12.15 2012.11.28 137 GMI 270 NC_000001.10:g.115230179T>C;NG_008012.1:g.12998A>G;NM_000036.2:c.315-648A>G;NM_001172626.1:c.303-648A>G 155559962 78950239 GMI_SNP_36876710 2.56e-02 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115230179T>C;NG_008012.1:g.12998A>G;NM_000036.2:c.315-648A>G;NM_001172626.1:c.303-648A>G 238356380 78950239 pilot_1_CHB+JPT_241457_chr1_115031702 2.56e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 270 NC_000001.10:g.115230179T>C;NG_008012.1:g.12998A>G;NM_000036.2:c.315-648A>G;NM_001172626.1:c.303-648A>G 275986666 78950239 GMI_AK_SNP_306829 2.56e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ABI 270 NC_000001.10:g.115230200_115230201insG;NG_008012.1:g.12976_12977insC;NM_000036.2:c.315-670_315-669insC;NM_001172626.1:c.303-670_303-669insC 41337451 34741374 hCV33603869 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115230222G>T;NG_008012.1:g.12955C>A;NM_000036.2:c.315-691C>A;NM_001172626.1:c.303-691C>A 454333806 189465140 20101123_snps_501036_chr1_115230222 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115230287C>T;NG_008012.1:g.12890G>A;NM_000036.2:c.315-756G>A;NM_001172626.1:c.303-756G>A 328871301 145668341 20100804_snps_514837_chr1_115230287 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 PERLEGEN 270 NC_000001.10:g.115230294G>A;NG_008012.1:g.12883C>T;NM_000036.2:c.315-763C>T;NM_001172626.1:c.303-763C>T 23191426 17032832 afd0682761 2.34e-02 2004.08.20 2004.09.13 2004.09.20 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230294G>A;NG_008012.1:g.12883C>T;NM_000036.2:c.315-763C>T;NM_001172626.1:c.303-763C>T 218609427 17032832 pilot_1_YRI_419110_chr1_115031817 2.34e-02 2010.04.22 2010.04.22 2004.09.20 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230457G>C;NG_008012.1:g.12720C>G;NM_000036.2:c.314+725C>G;NM_001172626.1:c.302+725C>G 328871302 148481029 20100804_snps_514838_chr1_115230457 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230480C>T;NG_008012.1:g.12697G>A;NM_000036.2:c.314+702G>A;NM_001172626.1:c.302+702G>A 210622897 114080858 YRI.trio.3.2010_59418_chr1_115032003 4.10e-03 2010.03.29 2010.03.29 2010.07.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230480C>T;NG_008012.1:g.12697G>A;NM_000036.2:c.314+702G>A;NM_001172626.1:c.302+702G>A 218609428 114080858 pilot_1_YRI_419111_chr1_115032003 4.10e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 270 NC_000001.10:g.115230613G>A;NG_008012.1:g.12564C>T;NM_000036.2:c.314+569C>T;NM_001172626.1:c.302+569C>T 198961482 112116602 BUSHMAN-chr1-115032135 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230624G>C;NG_008012.1:g.12553C>G;NM_000036.2:c.314+558C>G;NM_001172626.1:c.302+558C>G 328871303 142822792 20100804_snps_514839_chr1_115230624 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230743G>C;NG_008012.1:g.12434C>G;NM_000036.2:c.314+439C>G;NM_001172626.1:c.302+439C>G 454333807 181194528 20101123_snps_501037_chr1_115230743 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 270 NC_000001.10:g.115230754A>T;NG_008012.1:g.12423T>A;NM_000036.2:c.314+428T>A;NM_001172626.1:c.302+428T>A 87730641 61811032 JWB-2735530 2008.02.26 2008.02.26 2008.03.24 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115230754A>T;NG_008012.1:g.12423T>A;NM_000036.2:c.314+428T>A;NM_001172626.1:c.302+428T>A 138064405 61811032 ENSSNP11611753 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 GMI 270 NC_000001.10:g.115230771C>A;NG_008012.1:g.12406G>T;NM_000036.2:c.314+411G>T;NM_001172626.1:c.302+411G>T 275986667 200974008 GMI_AK_SNP_306830 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 270 NC_000001.10:g.115230794G>T;NG_008012.1:g.12383C>A;NM_000036.2:c.314+388C>A;NM_001172626.1:c.302+388C>A 454333808 184303194 20101123_snps_501038_chr1_115230794 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 270 NC_000001.10:g.115230822T>C;NG_008012.1:g.12355A>G;NM_000036.2:c.314+360A>G;NM_001172626.1:c.302+360A>G 198961486 113877460 BUSHMAN-chr1-115032344 6.00e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115230822T>C;NG_008012.1:g.12355A>G;NM_000036.2:c.314+360A>G;NM_001172626.1:c.302+360A>G 454333809 113877460 20101123_snps_501039_chr1_115230822 6.00e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115230884G>T;NG_008012.1:g.12293C>A;NM_000036.2:c.314+298C>A;NM_001172626.1:c.302+298C>A 328871304 146543220 20100804_snps_514840_chr1_115230884 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 270 NC_000001.10:g.115230985G>A;NG_008012.1:g.12192C>T;NM_000036.2:c.314+197C>T;NM_001172626.1:c.302+197C>T 79913807 57859921 Cor18507_SNV_20070510.chr1_114943027 2.38e-02 2007.11.24 2007.11.24 2007.12.15 2011.09.09 137 ILLUMINA-UK 270 NC_000001.10:g.115230985G>A;NG_008012.1:g.12192C>T;NM_000036.2:c.314+197C>T;NM_001172626.1:c.302+197C>T 118985596 57859921 NA18507_000134301_NCBI36.1_chr1_115032508 2.38e-02 2009.01.22 2009.01.22 2007.12.15 2011.09.09 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115230985G>A;NG_008012.1:g.12192C>T;NM_000036.2:c.314+197C>T;NM_001172626.1:c.302+197C>T 163941901 57859921 NA19240_36_chr1_115032508 2.38e-02 2009.09.29 2009.09.29 2007.12.15 2011.09.09 137 BUSHMAN 270 NC_000001.10:g.115230985G>A;NG_008012.1:g.12192C>T;NM_000036.2:c.314+197C>T;NM_001172626.1:c.302+197C>T 198961491 57859921 BUSHMAN-chr1-115032507 2.38e-02 2010.03.06 2010.03.06 2007.12.15 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230985G>A;NG_008012.1:g.12192C>T;NM_000036.2:c.314+197C>T;NM_001172626.1:c.302+197C>T 328871305 57859921 20100804_snps_514841_chr1_115230985 2.38e-02 2011.03.22 2011.03.22 2007.12.15 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115230990C>T;NG_008012.1:g.12187G>A;NM_000036.2:c.314+192G>A;NM_001172626.1:c.302+192G>A 454333810 181070709 20101123_snps_501040_chr1_115230990 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 270 NC_000001.10:g.115230994C>A;NG_008012.1:g.12183G>T;NM_000036.2:c.314+188G>T;NM_001172626.1:c.302+188G>T 198961493 113403886 BUSHMAN-chr1-115032516 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231125T>A;NG_008012.1:g.12052A>T;NM_000036.2:c.314+57A>T;NM_001172626.1:c.302+57A>T 218609429 115120750 pilot_1_YRI_419112_chr1_115032648 5.00e-04 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 9862867 6683173 chr1.NT_019273.15_5666976 2.47e-02 2003.06.28 2006.10.25 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 75062565 6683173 ILMN_Human_1M_rs6683173 2.47e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 78787818 6683173 Cor18507_SNV_20070510.chr1_114943214 2.47e-02 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 111044800 6683173 NA19240_2008_12_16_135335_chr1_115032695 2.47e-02 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 118985600 6683173 NA18507_000134302_NCBI36.1_chr1_115032695 2.47e-02 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 119520715 6683173 KHS1682962 2.47e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 160797632 6683173 HumanOmni1-Quad_v1-0_B_rs6683173-128_B_F_1514048598 2.47e-02 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 163941911 6683173 NA19240_36_chr1_115032695 2.47e-02 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 174067689 6683173 Human1M-Duov3_B_rs6683173-128_B_F_1514048598 2.47e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 198961497 6683173 BUSHMAN-chr1-115032694 2.47e-02 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 218609430 6683173 pilot_1_YRI_419113_chr1_115032695 2.47e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 481316040 6683173 HumanOmni2.5-4v1_B_rs6683173-128_B_F_1673402353 2.47e-02 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 481341224 6683173 HumanOmniExpress-12v1_C_rs6683173-131_B_F_1857019614 2.47e-02 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 482323097 6683173 HumanOmni1-Quad_v1-0_C_rs6683173-131_B_F_1865610582 2.47e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 485453208 6683173 HumanOmni2.5-4v1_D_rs6683173-131_B_F_1857019614 2.47e-02 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115231172C>T;NG_008012.1:g.12005G>A;NM_000036.2:c.314+10G>A;NM_001172626.1:c.302+10G>A 491600815 6683173 SNV-chr1-115032695 2.47e-02 2012.03.06 2012.03.12 2003.07.11 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231197G>A;NG_008012.1:g.11980C>T;NM_000036.2:c.299C>T;NM_001172626.1:c.287C>T;NP_000027.2:p.Ser100Phe;NP_001166097.1:p.Ser96Phe 341983633 145315039 ESP2500-chr1-115231197 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115231197G>A;NG_008012.1:g.11980C>T;NM_000036.2:c.299C>T;NM_001172626.1:c.287C>T;NP_000027.2:p.Ser100Phe;NP_001166097.1:p.Ser96Phe 491298738 145315039 nonsyn_14965_chr_1_115231197 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231202G>A;NG_008012.1:g.11975C>T;NM_000036.2:c.294C>T;NM_001172626.1:c.282C>T;NP_000027.2:p.Ser98=;NP_001166097.1:p.Ser94= 341983636 150208948 ESP2500-chr1-115231202 5.00e-04 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231202G>A;NG_008012.1:g.11975C>T;NM_000036.2:c.294C>T;NM_001172626.1:c.282C>T;NP_000027.2:p.Ser98=;NP_001166097.1:p.Ser94= 454333811 150208948 20101123_snps_501041_chr1_115231202 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115231202G>A;NG_008012.1:g.11975C>T;NM_000036.2:c.294C>T;NM_001172626.1:c.282C>T;NP_000027.2:p.Ser98=;NP_001166097.1:p.Ser94= 491600816 150208948 SNV-chr1-115032725 5.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115231208A>C;NG_008012.1:g.11969T>G;NM_000036.2:c.288T>G;NM_001172626.1:c.276T>G;NP_000027.2:p.Thr96=;NP_001166097.1:p.Thr92= 491600817 202046815 SNV-chr1-115032731 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231241A>G;NG_008012.1:g.11936T>C;NM_000036.2:c.255T>C;NM_001172626.1:c.243T>C;NP_000027.2:p.His85=;NP_001166097.1:p.His81= 341983638 140636373 ESP2500-chr1-115231241 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115231253C>T;NG_008012.1:g.11924G>A;NM_000036.2:c.243G>A;NM_001172626.1:c.231G>A;NP_000027.2:p.Pro81=;NP_001166097.1:p.Pro77= 341983639 145786786 ESP2500-chr1-115231253 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 CANCER-GENOME 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 86342063 61752479 377 5.45e-02 2008.01.25 2008.01.25 2008.03.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 161109487 61752479 HumanOmni1-Quad_v1-0_B_VG01S1903-0_T_F_1569786606 5.45e-02 2009.08.07 2009.10.05 2008.03.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 230701013 61752479 pilot_1_CEU_305642_chr1_115032777 5.45e-02 2010.05.01 2010.05.01 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 341983642 61752479 ESP2500-chr1-115231254 5.45e-02 2011.03.25 2011.03.25 2008.03.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 482077089 61752479 HumanOmniExpress-12v1_C_VG01S1903-0_T_F_1852963109 5.45e-02 2012.02.01 2012.02.01 2008.03.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 483025997 61752479 HumanOmni1-Quad_v1-0_C_VG01S1903-0_T_F_1852963109 5.45e-02 2012.02.02 2012.02.02 2008.03.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 485814758 61752479 HumanOmni2.5-4v1_D_VG01S1903-0_T_F_1852963109 5.45e-02 2012.02.05 2012.02.05 2008.03.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 485827451 61752479 HumanOmni2.5-4v1_B_VG01S1903-0_T_F_1569786606 5.45e-02 2012.02.05 2012.02.05 2008.03.23 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 491298739 61752479 nonsyn_14966_chr_1_115231254 5.45e-02 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115231254G>A;NG_008012.1:g.11923C>T;NM_000036.2:c.242C>T;NM_001172626.1:c.230C>T;NP_000027.2:p.Pro81Leu;NP_001166097.1:p.Pro77Leu 491600818 61752479 SNV-chr1-115032777 5.45e-02 2012.03.06 2012.03.12 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231293C>A;NG_008012.1:g.11884G>T;NM_000036.2:c.203G>T;NM_001172626.1:c.191G>T;NP_000027.2:p.Arg68Leu;NP_001166097.1:p.Arg64Leu 341983643 147972392 ESP2500-chr1-115231293 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115231294G>A;NG_008012.1:g.11883C>T;NM_000036.2:c.202C>T;NM_001172626.1:c.190C>T;NP_000027.2:p.Arg68Cys;NP_001166097.1:p.Arg64Cys 341983646 139512772 ESP2500-chr1-115231294 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 CANCER-GENOME 270 NC_000001.10:g.115231298T>C;NG_008012.1:g.11879A>G;NM_000036.2:c.198A>G;NM_001172626.1:c.186A>G;NP_000027.2:p.Gly66=;NP_001166097.1:p.Gly62= 86342064 61752480 21920 1.80e-03 2008.01.25 2008.01.25 2008.03.23 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231298T>C;NG_008012.1:g.11879A>G;NM_000036.2:c.198A>G;NM_001172626.1:c.186A>G;NP_000027.2:p.Gly66=;NP_001166097.1:p.Gly62= 341983648 61752480 ESP2500-chr1-115231298 1.80e-03 2011.03.25 2011.03.25 2008.03.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231298T>C;NG_008012.1:g.11879A>G;NM_000036.2:c.198A>G;NM_001172626.1:c.186A>G;NP_000027.2:p.Gly66=;NP_001166097.1:p.Gly62= 454333812 61752480 20101123_snps_501042_chr1_115231298 1.80e-03 2011.07.20 2011.07.20 2008.03.23 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115231298T>C;NG_008012.1:g.11879A>G;NM_000036.2:c.198A>G;NM_001172626.1:c.186A>G;NP_000027.2:p.Gly66=;NP_001166097.1:p.Gly62= 491600819 61752480 SNV-chr1-115032821 1.80e-03 2012.03.06 2012.03.12 2008.03.23 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115231305T>C;NG_008012.1:g.11872A>G;NM_000036.2:c.191A>G;NM_001172626.1:c.179A>G;NP_000027.2:p.Asp64Gly;NP_001166097.1:p.Asp60Gly 491600820 201837665 SNV-chr1-115032828 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231310G>A;NG_008012.1:g.11867C>T;NM_000036.2:c.186C>T;NM_001172626.1:c.174C>T;NP_000027.2:p.Val62=;NP_001166097.1:p.Val58= 341983650 145281002 ESP2500-chr1-115231310 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115231316A>G;NG_008012.1:g.11861T>C;NM_000036.2:c.180T>C;NM_001172626.1:c.168T>C;NP_000027.2:p.Ser60=;NP_001166097.1:p.Ser56= 341983651 144154328 ESP2500-chr1-115231316 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 YUSUKE 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 3208656 2273268 IMS-JST068740 5.00e-04 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 74817279 2273268 SNP_M-314882 5.00e-04 2007.08.09 2007.08.09 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 74869162 2273268 ILMN_Human_1M_rs2273268 5.00e-04 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 119425800 2273268 KHS1588047 5.00e-04 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 160525513 2273268 HumanOmni1-Quad_v1-0_B_rs2273268-128_B_R_1513896134 5.00e-04 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 173234013 2273268 Human1M-Duov3_B_rs2273268-128_B_R_1513896134 5.00e-04 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 244288960 2273268 CVDSNP55v1_A_rs2273268 5.00e-04 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 454333813 2273268 20101123_snps_501043_chr1_115231333 5.00e-04 2011.07.20 2011.07.20 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 480497228 2273268 HumanOmni2.5-4v1_B_rs2273268-128_B_R_1673442298 5.00e-04 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 480511573 2273268 HumanOmniExpress-12v1_C_rs2273268-131_B_R_1857180822 5.00e-04 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 481316304 2273268 HumanOmni1-Quad_v1-0_C_rs2273268-131_B_R_1857180822 5.00e-04 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231333C>T;NG_008012.1:g.11844G>A;NM_000036.2:c.163G>A;NM_001172626.1:c.151G>A;NP_000027.2:p.Glu55Lys;NP_001166097.1:p.Glu51Lys 485046114 2273268 HumanOmni2.5-4v1_D_rs2273268-131_B_R_1857180822 5.00e-04 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115231334A>G;NG_008012.1:g.11843T>C;NM_000036.2:c.162T>C;NM_001172626.1:c.150T>C;NP_000027.2:p.Ala54=;NP_001166097.1:p.Ala50= 341983654 151258843 ESP2500-chr1-115231334 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 NHLBI-ESP 270 NC_000001.10:g.115231344C>T;NG_008012.1:g.11833G>A;NM_000036.2:c.152G>A;NM_001172626.1:c.140G>A;NP_000027.2:p.Arg51His;NP_001166097.1:p.Arg47His 341983655 140601541 ESP2500-chr1-115231344 2011.03.25 2011.03.25 2011.05.09 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115231350G>A;NG_008012.1:g.11827C>T;NM_000036.2:c.146C>T;NM_001172626.1:c.134C>T;NP_000027.2:p.Ala49Val;NP_001166097.1:p.Ala45Val 454333814 186874878 20101123_snps_501044_chr1_115231350 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115231396C>T;NG_008012.1:g.11781G>A;NM_000036.2:c.134-34G>A;NM_001172626.1:c.122-34G>A 328871306 145067058 20100804_snps_514842_chr1_115231396 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231440T>C;NG_008012.1:g.11737A>G;NM_000036.2:c.134-78A>G;NM_001172626.1:c.122-78A>G 328871307 146803602 20100804_snps_514843_chr1_115231440 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231459C>T;NG_008012.1:g.11718G>A;NM_000036.2:c.134-97G>A;NM_001172626.1:c.122-97G>A 328871308 140554709 20100804_snps_514844_chr1_115231459 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 270 NC_000001.10:g.115231494A>C;NG_008012.1:g.11683T>G;NM_000036.2:c.134-132T>G;NM_001172626.1:c.122-132T>G 85573314 56969432 Cor18517_SNV_20070510.chr1_114943536 1.33e-02 2007.12.09 2007.12.09 2007.12.14 2011.09.09 137 BUSHMAN 270 NC_000001.10:g.115231494A>C;NG_008012.1:g.11683T>G;NM_000036.2:c.134-132T>G;NM_001172626.1:c.122-132T>G 198961501 56969432 BUSHMAN-chr1-115033016 1.33e-02 2010.03.06 2010.03.06 2007.12.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231494A>C;NG_008012.1:g.11683T>G;NM_000036.2:c.134-132T>G;NM_001172626.1:c.122-132T>G 210622900 56969432 YRI.trio.3.2010_59419_chr1_115033017 1.33e-02 2010.03.29 2010.03.29 2007.12.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231494A>C;NG_008012.1:g.11683T>G;NM_000036.2:c.134-132T>G;NM_001172626.1:c.122-132T>G 218609431 56969432 pilot_1_YRI_419114_chr1_115033017 1.33e-02 2010.04.22 2010.04.22 2007.12.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231538G>C;NG_008012.1:g.11639C>G;NM_000036.2:c.134-176C>G;NM_001172626.1:c.122-176C>G 328871309 80270587 20100804_snps_514845_chr1_115231538 2.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115231571G>A;NG_008012.1:g.11606C>T;NM_000036.2:c.134-209C>T;NM_001172626.1:c.122-209C>T 491600821 200389082 SNV-chr1-115033094 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231627C>T;NG_008012.1:g.11550G>A;NM_000036.2:c.134-265G>A;NM_001172626.1:c.122-265G>A 328871310 138352165 20100804_snps_514846_chr1_115231627 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231646G>A;NG_008012.1:g.11531C>T;NM_000036.2:c.134-284C>T;NM_001172626.1:c.122-284C>T 328871311 149211990 20100804_snps_514847_chr1_115231646 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 270 NC_000001.10:g.115231717_115231718insG;NG_008012.1:g.11459_11460insC;NM_000036.2:c.134-356_134-355insC;NM_001172626.1:c.122-356_122-355insC 41128413 34418559 hCV33603883 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ABI 270 NC_000001.10:g.115231720_115231721insC;NG_008012.1:g.11456_11457insG;NM_000036.2:c.134-359_134-358insG;NM_001172626.1:c.122-359_122-358insG 41159720 34909498 hCV33603884 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115231743T>C;NG_008012.1:g.11434A>G;NM_000036.2:c.134-381A>G;NM_001172626.1:c.122-381A>G 328871312 146939762 20100804_snps_514848_chr1_115231743 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115231823C>G;NG_008012.1:g.11354G>C;NM_000036.2:c.134-461G>C;NM_001172626.1:c.122-461G>C 328871313 137923404 20100804_snps_514849_chr1_115231823 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.10.06 137 MPI_MOLGEN 270 NC_000001.10:g.115231823C>G;NG_008012.1:g.11354G>C;NM_000036.2:c.134-461G>C;NM_001172626.1:c.122-461G>C 469110893 137923404 Chromosome1_115033346 6.90e-03 2011.08.15 2011.08.15 2011.05.09 2011.10.06 137 SC_SNP 270 NC_000001.10:g.115231942C>T;NG_008012.1:g.11235G>A;NM_000036.2:c.134-580G>A;NM_001172626.1:c.122-580G>A 18210710 12096667 SC-CHR1_NA17109-200402.chr1.NT_019273.16_6227890 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231942C>T;NG_008012.1:g.11235G>A;NM_000036.2:c.134-580G>A;NM_001172626.1:c.122-580G>A 160033127 12096667 HumanOmni1-Quad_v1-0_B_rs12096667-128_T_R_1562884987 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115231942C>T;NG_008012.1:g.11235G>A;NM_000036.2:c.134-580G>A;NM_001172626.1:c.122-580G>A 480198256 12096667 HumanOmni1-Quad_v1-0_C_rs12096667-131_T_R_1863780119 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115231997A>C;NG_008012.1:g.11180T>G;NM_000036.2:c.134-635T>G;NM_001172626.1:c.122-635T>G 328871314 143390181 20100804_snps_514850_chr1_115231997 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115232025G>T;NG_008012.1:g.11152C>A;NM_000036.2:c.134-663C>A;NM_001172626.1:c.122-663C>A 328871315 147167156 20100804_snps_514851_chr1_115232025 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115232031A>G;NG_008012.1:g.11146T>C;NM_000036.2:c.134-669T>C;NM_001172626.1:c.122-669T>C 218609433 115269545 pilot_1_YRI_419116_chr1_115033554 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115232046T>A;NG_008012.1:g.11131A>T;NM_000036.2:c.134-684A>T;NM_001172626.1:c.122-684A>T 218609434 77950686 pilot_1_YRI_419117_chr1_115033569 9.60e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115232305G>C;NG_008012.1:g.10872C>G;NM_000036.2:c.134-943C>G;NM_001172626.1:c.122-943C>G 454333815 190634088 20101123_snps_501045_chr1_115232305 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 270 NC_000001.10:g.115232307G>A;NG_008012.1:g.10870C>T;NM_000036.2:c.134-945C>T;NM_001172626.1:c.122-945C>T 198961507 111282032 BUSHMAN-chr1-115033829 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115232360C>A;NG_008012.1:g.10817G>T;NM_000036.2:c.134-998G>T;NM_001172626.1:c.122-998G>T 138064406 74699500 ENSSNP11611754 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115232362C>T;NG_008012.1:g.10815G>A;NM_000036.2:c.134-1000G>A;NM_001172626.1:c.122-1000G>A 454333816 182492432 20101123_snps_501046_chr1_115232362 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115232363G>A;NG_008012.1:g.10814C>T;NM_000036.2:c.134-1001C>T;NM_001172626.1:c.122-1001C>T 454333817 187176084 20101123_snps_501047_chr1_115232363 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115232442A>T;NG_008012.1:g.10735T>A;NM_000036.2:c.134-1080T>A;NM_001172626.1:c.122-1080T>A 454333818 189523160 20101123_snps_501048_chr1_115232442 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 3288804 2336363 TSC1426728 2.22e-01 2001.09.20 2006.10.25 2001.09.28 2012.11.28 137 WI_SSAHASNP 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 6683552 2336363 NT_019273.13_4747380 2.22e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 23861483 2336363 afd0682762 2.22e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 ABI 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 44047379 2336363 hCV16204859 2.22e-01 2005.07.18 2005.07.18 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 155559970 2336363 GMI_SNP_72303328 2.22e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 218609435 2336363 pilot_1_YRI_419118_chr1_115034091 2.22e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 230701014 2336363 pilot_1_CEU_305643_chr1_115034091 2.22e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 238356381 2336363 pilot_1_CHB+JPT_241458_chr1_115034091 2.22e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115232568C>T;NG_008012.1:g.10609G>A;NM_000036.2:c.134-1206G>A;NM_001172626.1:c.122-1206G>A 275986668 2336363 GMI_AK_SNP_306831 2.22e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115232817C>T;NG_008012.1:g.10360G>A;NM_000036.2:c.134-1455G>A;NM_001172626.1:c.122-1455G>A 328871316 138717598 20100804_snps_514852_chr1_115232817 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115232858T>C;NG_008012.1:g.10319A>G;NM_000036.2:c.134-1496A>G;NM_001172626.1:c.122-1496A>G 218609436 115377379 pilot_1_YRI_419119_chr1_115034381 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BCM_SSAHASNP 270 NC_000001.10:g.115232889T>C;NG_008012.1:g.10288A>G;NM_000036.2:c.134-1527A>G;NM_001172626.1:c.122-1527A>G 9807659 6656110 chr1.NT_019273.15_5668693 2003.06.27 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115232968A>C;NG_008012.1:g.10209T>G;NM_000036.2:c.134-1606T>G;NM_001172626.1:c.122-1606T>G 218609437 79188452 pilot_1_YRI_419120_chr1_115034491 9.00e-04 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115232972T>C;NG_008012.1:g.10205A>G;NM_000036.2:c.134-1610A>G;NM_001172626.1:c.122-1610A>G 454333819 182882863 20101123_snps_501049_chr1_115232972 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 3202539 2268701 IMS-JST022623 4.80e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 9876475 2268701 chr1.NT_019273.15_5668850 4.80e-01 2003.06.28 2006.10.25 2001.09.28 2012.11.28 137 WI_SSAHASNP 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 11404513 2268701 chr1.NT_019273.15_5668850 4.80e-01 2003.07.03 2003.10.10 2001.09.28 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 19154637 2268701 CSHL-HuDD-200402.chr1.NT_019273.16_6228994 4.80e-01 2004.02.20 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 20611260 2268701 WGSA-200403-chr1.chr1.NT_019273.16_6228994 4.80e-01 2004.03.18 2004.03.18 2001.09.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 23191448 2268701 afd0682763 4.80e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 ABI 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 44051018 2268701 hCV15875096 4.80e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 65776061 2268701 Human1-rs2268701 4.80e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 68778595 2268701 PGP00682763 4.80e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 74874158 2268701 ILMN_Human_1M_rs2268701 4.80e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 76693939 2268701 AFFY_6_1M_SNP_A-8555391 4.80e-01 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 81509667 2268701 Cor19240_SNV_20070510.chr1_114945088 4.80e-01 2007.11.30 2007.11.30 2001.09.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 87730645 2268701 JWB-0108799 4.80e-01 2008.02.26 2008.02.26 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 99242742 2268701 1103675202583 4.80e-01 2008.04.03 2008.04.03 2001.09.28 2012.11.28 137 BGI 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 106596540 2268701 BGI_rs2268701 4.80e-01 2008.09.17 2009.06.16 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 111044809 2268701 NA19240_2008_12_16_135336_chr1_115034569 4.80e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 119425151 2268701 KHS1587398 4.80e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 138064407 2268701 ENSSNP6485164 4.80e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 139270198 2268701 ENSSNP20421 4.80e-01 2009.05.18 2009.10.16 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 163941921 2268701 NA19240_36_chr1_115034569 4.80e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 167025343 2268701 NA20431_36_chr1_115034569 4.80e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 173227620 2268701 Human1M-Duov3_B_rs2268701-128_T_R_1513895936 4.80e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 198961510 2268701 BUSHMAN-chr1-115034568 4.80e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 205047552 2268701 BCM_CMT_1011-4609 4.80e-01 2010.03.15 2010.03.15 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 218609438 2268701 pilot_1_YRI_419121_chr1_115034569 4.80e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 230701017 2268701 pilot_1_CEU_305646_chr1_115034569 4.80e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 238356382 2268701 pilot_1_CHB+JPT_241459_chr1_115034569 4.80e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 253401831 2268701 SNP120186_1_115034569 4.80e-01 2010.08.18 2010.08.18 2001.09.28 2012.11.28 137 GMI 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 275986669 2268701 GMI_AK_SNP_306832 4.80e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 290603378 2268701 SNP_109736_chr1_115034569 4.80e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 482079324 2268701 HumanOmni2.5-4v1_B_SNP1-115034569-0_T_R_1616829700 4.80e-01 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115233046C>T;NG_008012.1:g.10131G>A;NM_000036.2:c.134-1684G>A;NM_001172626.1:c.122-1684G>A 484369416 2268701 HumanOmni2.5-4v1_D_kgp9959073-0_T_R_1817785472 4.80e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233115G>T;NG_008012.1:g.10062C>A;NM_000036.2:c.134-1753C>A;NM_001172626.1:c.122-1753C>A 454333820 188630841 20101123_snps_501050_chr1_115233115 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115233306A>T;NG_008012.1:g.9871T>A;NM_000036.2:c.134-1944T>A;NM_001172626.1:c.122-1944T>A 454333821 193277416 20101123_snps_501051_chr1_115233306 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115233384C>T;NG_008012.1:g.9793G>A;NM_000036.2:c.134-2022G>A;NM_001172626.1:c.122-2022G>A 454333822 185672223 20101123_snps_501052_chr1_115233384 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115233695T>A;NG_008012.1:g.9482A>T;NM_000036.2:c.134-2333A>T;NM_001172626.1:c.122-2333A>T 454333823 188610582 20101123_snps_501053_chr1_115233695 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115233738_115233739insT;NG_008012.1:g.9438_9439insA;NM_000036.2:c.133+2318_133+2319insA;NM_001172626.1:c.122-2377_122-2376insA 326107547 139829625 YRI_chr1_115035262_indel 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233738_115233739insT;NG_008012.1:g.9438_9439insA;NM_000036.2:c.133+2318_133+2319insA;NM_001172626.1:c.122-2377_122-2376insA 498977565 139829625 20110316_indels_chr1_115233739_115233740 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233760C>T;NG_008012.1:g.9417G>A;NM_000036.2:c.133+2297G>A;NM_001172626.1:c.122-2398G>A 210622903 116289331 YRI.trio.3.2010_59420_chr1_115035283 9.20e-03 2010.03.29 2010.03.29 2010.07.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115233760C>T;NG_008012.1:g.9417G>A;NM_000036.2:c.133+2297G>A;NM_001172626.1:c.122-2398G>A 218609439 116289331 pilot_1_YRI_419122_chr1_115035283 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115233777A>G;NG_008012.1:g.9400T>C;NM_000036.2:c.133+2280T>C;NM_001172626.1:c.122-2415T>C 454333824 192324905 20101123_snps_501054_chr1_115233777 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 270 NC_000001.10:g.115233830A>G;NG_008012.1:g.9347T>C;NM_000036.2:c.133+2227T>C;NM_001172626.1:c.122-2468T>C 118985605 74113510 NA18507_000134303_NCBI36.1_chr1_115035353 1.14e-02 2009.01.22 2009.01.22 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233830A>G;NG_008012.1:g.9347T>C;NM_000036.2:c.133+2227T>C;NM_001172626.1:c.122-2468T>C 218609440 74113510 pilot_1_YRI_419123_chr1_115035353 1.14e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233835A>G;NG_008012.1:g.9342T>C;NM_000036.2:c.133+2222T>C;NM_001172626.1:c.122-2473T>C 454333825 184157040 20101123_snps_501055_chr1_115233835 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115233885G>A;NG_008012.1:g.9292C>T;NM_000036.2:c.133+2172C>T;NM_001172626.1:c.122-2523C>T 454333826 188694883 20101123_snps_501056_chr1_115233885 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 270 NC_000001.10:g.115233956_115233957insT;NG_008012.1:g.9220_9221insA;NM_000036.2:c.133+2100_133+2101insA;NM_001172626.1:c.122-2595_122-2594insA 41298041 35746234 hCV33603895 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 DEVINE_LAB 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 15297727 11412027 INDEL_GP34_WGS_440461 4.76e-01 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 41158266 11412027 hCV26680562 4.76e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 BGI 270 NC_000001.10:g.115233986C>T;NG_008012.1:g.9191G>A;NM_000036.2:c.133+2071G>A;NM_001172626.1:c.122-2624G>A 102777129 75803075 BGI_rs11412027 2008.06.04 2009.06.16 2009.12.01 2011.07.08 137 BGI 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 104668095 11412027 BGI_rs33984400 4.76e-01 2008.06.09 2008.06.09 2004.02.28 2012.11.28 137 BGI 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 105446256 11412027 BGI_YHIndelrs33984400 4.76e-01 2008.09.10 2009.06.16 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 287679692 11412027 GMI_NA10851_INDEL_12292 4.76e-01 2010.12.18 2010.12.20 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 288029320 11412027 GMI_AK_INDEL_45222 4.76e-01 2010.12.20 2011.12.22 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 326078523 11412027 JPTCHB_chr1_115035509_indel 4.76e-01 2011.03.11 2011.04.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 326081437 11412027 CEU_chr1_115035509_indel 4.76e-01 2011.03.11 2011.04.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 326107549 11412027 YRI_chr1_115035509_indel 4.76e-01 2011.03.11 2011.04.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115233986_115233987insT;NG_008012.1:g.9190_9191insA;NM_000036.2:c.133+2070_133+2071insA;NM_001172626.1:c.122-2625_122-2624insA 498977569 11412027 20110316_indels_chr1_115233986_115233987 4.76e-01 2012.03.19 2012.03.19 2004.02.28 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 50046426 33984400 INDEL_GP35_WGS_234883 2006.01.24 2006.01.24 2006.03.13 2011.10.06 137 DEVINE_LAB 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 50083872 33984400 INDEL_GP35_WGS_283188 2006.01.24 2006.01.24 2006.03.13 2011.10.06 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 95241147 33984400 1104685713242 2008.03.21 2008.12.02 2006.03.13 2011.10.06 137 DEVINE_LAB 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 99430950 33984400 INDEL_GP36_2007a_320663_0 2008.05.05 2008.05.05 2006.03.13 2011.10.06 137 DEVINE_LAB 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 101366802 33984400 INDEL_GP36_2008a_320663_1 2008.05.17 2008.05.17 2006.03.13 2011.10.06 137 DEVINE_LAB 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 101366804 33984400 INDEL_GP36_2008a_320663_2 2008.05.17 2008.05.17 2006.03.13 2011.10.06 137 DEVINE_LAB 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 101366806 33984400 INDEL_GP36_2008a_320663_3 2008.05.17 2008.05.17 2006.03.13 2011.10.06 137 PJP 270 NC_000001.10:g.115233987_115233988insT;NG_008012.1:g.9189_9190insA;NM_000036.2:c.133+2069_133+2070insA;NM_001172626.1:c.122-2626_122-2625insA 294599649 33984400 DIP_37353_chr1_115035510 2011.01.21 2011.01.21 2006.03.13 2011.10.06 137 GMI 270 NC_000001.10:g.115233988G>T;NG_008012.1:g.9189C>A;NM_000036.2:c.133+2069C>A;NM_001172626.1:c.122-2626C>A 275986670 200879312 GMI_AK_SNP_306833 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 270 NC_000001.10:g.115234021_115234022insT;NC_000001.10:g.115234021_115234022insTT;NG_008012.1:g.9155_9156insA;NG_008012.1:g.9155_9156insAA;NM_000036.2:c.133+2035_133+2036insA;NM_000036.2:c.133+2035_133+2036insAA;NM_001172626.1:c.122-2660_122-2659insA;NM_001172626.1:c.122-2660_122-2659insAA 15340095 11451311 INDEL_GP34_WGS_489564 2003.11.14 2003.11.22 2004.02.28 2012.08.01 137 DEVINE_LAB 270 NC_000001.10:g.115234021_115234022insT;NC_000001.10:g.115234021_115234022insTT;NG_008012.1:g.9155_9156insA;NG_008012.1:g.9155_9156insAA;NM_000036.2:c.133+2035_133+2036insA;NM_000036.2:c.133+2035_133+2036insAA;NM_001172626.1:c.122-2660_122-2659insA;NM_001172626.1:c.122-2660_122-2659insAA 50110839 11451311 INDEL_GP35_WGS_318002 2006.01.24 2006.01.24 2004.02.28 2012.08.01 137 HGSV 270 NC_000001.10:g.115234021_115234022insT;NC_000001.10:g.115234021_115234022insTT;NG_008012.1:g.9155_9156insA;NG_008012.1:g.9155_9156insAA;NM_000036.2:c.133+2035_133+2036insA;NM_000036.2:c.133+2035_133+2036insAA;NM_001172626.1:c.122-2660_122-2659insA;NM_001172626.1:c.122-2660_122-2659insAA 80172705 11451311 Cor18507_DIV_20070510.chr1_114946075-114946076_1 2007.11.24 2007.11.24 2004.02.28 2012.08.01 137 DEVINE_LAB 270 NC_000001.10:g.115234021_115234022insT;NC_000001.10:g.115234021_115234022insTT;NG_008012.1:g.9155_9156insA;NG_008012.1:g.9155_9156insAA;NM_000036.2:c.133+2035_133+2036insA;NM_000036.2:c.133+2035_133+2036insAA;NM_001172626.1:c.122-2660_122-2659insA;NM_001172626.1:c.122-2660_122-2659insAA 99441380 11451311 INDEL_GP36_2007a_363006_0 2008.05.05 2008.05.05 2004.02.28 2012.08.01 137 DEVINE_LAB 270 NC_000001.10:g.115234021_115234022insT;NC_000001.10:g.115234021_115234022insTT;NG_008012.1:g.9155_9156insA;NG_008012.1:g.9155_9156insAA;NM_000036.2:c.133+2035_133+2036insA;NM_000036.2:c.133+2035_133+2036insAA;NM_001172626.1:c.122-2660_122-2659insA;NM_001172626.1:c.122-2660_122-2659insAA 101306887 11451311 INDEL_GP36_2008a_2804290_0 2008.05.17 2008.05.17 2004.02.28 2012.08.01 137 DEVINE_LAB 270 NC_000001.10:g.115234021_115234022insT;NC_000001.10:g.115234021_115234022insTT;NG_008012.1:g.9155_9156insA;NG_008012.1:g.9155_9156insAA;NM_000036.2:c.133+2035_133+2036insA;NM_000036.2:c.133+2035_133+2036insAA;NM_001172626.1:c.122-2660_122-2659insA;NM_001172626.1:c.122-2660_122-2659insAA 102039307 11451311 INDEL_GP36_2008a_2032787_0 2008.05.18 2008.05.18 2004.02.28 2012.08.01 137 DEVINE_LAB 270 NC_000001.10:g.115234021_115234022insT;NC_000001.10:g.115234021_115234022insTT;NG_008012.1:g.9155_9156insA;NG_008012.1:g.9155_9156insAA;NM_000036.2:c.133+2035_133+2036insA;NM_000036.2:c.133+2035_133+2036insAA;NM_001172626.1:c.122-2660_122-2659insA;NM_001172626.1:c.122-2660_122-2659insAA 102491544 11451311 INDEL_GP36_2008a_1302472_0 2008.05.18 2008.05.18 2004.02.28 2012.08.01 137 1000GENOMES 270 NC_000001.10:g.115234129C>T;NG_008012.1:g.9048G>A;NM_000036.2:c.133+1928G>A;NM_001172626.1:c.122-2767G>A 454333827 180704633 20101123_snps_501057_chr1_115234129 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 270 NC_000001.10:g.115234195_115234196insTT;NG_008012.1:g.8981_8982insAA;NM_000036.2:c.133+1861_133+1862insAA;NM_001172626.1:c.122-2834_122-2833insAA 15135275 10698057 INDEL_GP34_WGS_230010 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115234204G>A;NG_008012.1:g.8973C>T;NM_000036.2:c.133+1853C>T;NM_001172626.1:c.122-2842C>T 454333828 184562738 20101123_snps_501058_chr1_115234204 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 19131801 12407408 CSHL-HuDD-200402.chr1.NT_019273.16_6230223 4.75e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 20514414 12407408 WGSA-200403-chr1.chr1.NT_019273.16_6230223 4.75e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 ABI 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 41303061 12407408 hCV26680563 4.75e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 66298036 12407408 SNP_A-1839493 4.75e-01 2006.10.29 2008.03.31 2004.02.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 75967712 12407408 AFFY_6_1M_SNP_A-1839493 4.75e-01 2007.08.29 2010.03.07 2004.02.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 82976122 12407408 KHS366921 4.75e-01 2007.12.04 2007.12.04 2004.02.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 87730649 12407408 JWB-0108800 4.75e-01 2008.02.26 2008.02.26 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 99242743 12407408 1103675202586 4.75e-01 2008.04.03 2008.04.03 2004.02.28 2012.11.28 137 BGI 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 106596541 12407408 BGI_rs12407408 4.75e-01 2008.09.17 2009.06.16 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 108541062 12407408 CEU.trio.12.15.2008_148149_chr1_115035798 4.75e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 111044817 12407408 NA19240_2008_12_16_135337_chr1_115035798 4.75e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 131642282 12407408 ENSSNP20422 4.75e-01 2009.05.11 2009.10.14 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 138064408 12407408 ENSSNP11611756 4.75e-01 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 163941929 12407408 NA19240_36_chr1_115035798 4.75e-01 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 167025352 12407408 NA20431_36_chr1_115035798 4.75e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 169797444 12407408 GenomeWideSNP_5_SNP_A-1839493 4.75e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 198961514 12407408 BUSHMAN-chr1-115035797 4.75e-01 2010.03.06 2010.03.06 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 205191715 12407408 BCM_CMT_1011-75751 4.75e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 218609442 12407408 pilot_1_YRI_419125_chr1_115035798 4.75e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 230701019 12407408 pilot_1_CEU_305648_chr1_115035798 4.75e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 238356384 12407408 pilot_1_CHB+JPT_241461_chr1_115035798 4.75e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 253401836 12407408 SNP120187_1_115035798 4.75e-01 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 275986671 12407408 GMI_AK_SNP_306834 4.75e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 270 NC_000001.10:g.115234275G>A;NG_008012.1:g.8902C>T;NM_000036.2:c.133+1782C>T;NM_001172626.1:c.122-2913C>T 290603379 12407408 SNP_109737_chr1_115035798 4.75e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234309G>A;NG_008012.1:g.8868C>T;NM_000036.2:c.133+1748C>T;NM_001172626.1:c.122-2947C>T 454333829 189278265 20101123_snps_501059_chr1_115234309 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115234337A>G;NG_008012.1:g.8840T>C;NM_000036.2:c.133+1720T>C;NM_001172626.1:c.122-2975T>C 328871317 141292486 20100804_snps_514853_chr1_115234337 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115234356G>T;NG_008012.1:g.8821C>A;NM_000036.2:c.133+1701C>A;NM_001172626.1:c.122-2994C>A 134125454 80262293 ENSSNP3006691 2009.05.13 2009.10.15 2009.12.01 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115234357G>A;NC_000001.10:g.115234357G>T;NG_008012.1:g.8820C>A;NG_008012.1:g.8820C>T;NM_000036.2:c.133+1700C>A;NM_000036.2:c.133+1700C>T;NM_001172626.1:c.122-2995C>A;NM_001172626.1:c.122-2995C>T 138831827 78107912 ENSSNP301055 2009.05.18 2009.10.16 2009.12.01 2011.07.08 137 ENSEMBL 270 NC_000001.10:g.115234363A>T;NG_008012.1:g.8814T>A;NM_000036.2:c.133+1694T>A;NM_001172626.1:c.122-3001T>A 143292276 79614177 ENSSNP13432551 2009.06.06 2009.06.06 2009.12.01 2011.09.09 137 ENSEMBL 270 NC_000001.10:g.115234363A>T;NG_008012.1:g.8814T>A;NM_000036.2:c.133+1694T>A;NM_001172626.1:c.122-3001T>A 161623986 79614177 ENSSNP2778031 2009.09.25 2009.09.25 2009.12.01 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115234365G>A;NG_008012.1:g.8812C>T;NM_000036.2:c.133+1692C>T;NM_001172626.1:c.122-3003C>T 454333830 182321834 20101123_snps_501060_chr1_115234365 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115234414C>T;NG_008012.1:g.8763G>A;NM_000036.2:c.133+1643G>A;NM_001172626.1:c.122-3052G>A 454333831 187383084 20101123_snps_501061_chr1_115234414 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115234540C>T;NG_008012.1:g.8637G>A;NM_000036.2:c.133+1517G>A;NM_001172626.1:c.122-3178G>A 454333832 190476811 20101123_snps_501062_chr1_115234540 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115234558A>T;NG_008012.1:g.8619T>A;NM_000036.2:c.133+1499T>A;NM_001172626.1:c.122-3196T>A 163941940 111892769 NA19240_36_chr1_115036081 1.74e-02 2009.09.29 2009.09.29 2010.07.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234558A>T;NG_008012.1:g.8619T>A;NM_000036.2:c.133+1499T>A;NM_001172626.1:c.122-3196T>A 218609443 111892769 pilot_1_YRI_419126_chr1_115036081 1.74e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 SC_SNP 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 18103033 12038990 SC-CHR1_NA11321-200402.chr1.NT_019273.16_6230580 2.02e-01 2004.02.20 2006.10.26 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 66977419 12038990 HumanHap550v1.1_rs12038990 2.02e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 67148844 12038990 HumanHap650Yv1.0_rs12038990 2.02e-01 2006.11.14 2006.11.14 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 68119820 12038990 HumanHap250Sv1.0_rs12038990 2.02e-01 2006.12.06 2006.12.07 2004.02.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 68778596 12038990 PGP06019575 2.02e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 70553159 12038990 HumanHap550v3.0__rs12038990 2.02e-01 2007.04.20 2008.03.30 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 71089369 12038990 HumanHap650Yv3.0_rs12038990 2.02e-01 2007.04.23 2007.04.23 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 75488595 12038990 ILMN_Human_1M_rs12038990 2.02e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 76586633 12038990 AFFY_6_1M_SNP_A-8447827 2.02e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 83952258 12038990 Cor18555_SNV_20070510.chr1_114946674 2.02e-01 2007.12.06 2007.12.06 2004.02.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 85175652 12038990 KHS919204 2.02e-01 2007.12.08 2007.12.08 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 153118753 12038990 Human610_Quadv1_B_rs12038990-120_B_F_1502106255 2.02e-01 2009.06.18 2009.06.19 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 155559978 12038990 GMI_SNP_71456668 2.02e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 159201113 12038990 Human660W-Quad_v1_A_rs12038990-120_B_F_1502106255 2.02e-01 2009.07.06 2009.07.06 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 160028186 12038990 HumanOmni1-Quad_v1-0_B_rs12038990-120_B_F_1502106255 2.02e-01 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 171806132 12038990 Human1M-Duov3_B_rs12038990-120_B_F_1502106255 2.02e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 218609444 12038990 pilot_1_YRI_419127_chr1_115036155 2.02e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 230701020 12038990 pilot_1_CEU_305649_chr1_115036155 2.02e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 238356385 12038990 pilot_1_CHB+JPT_241462_chr1_115036155 2.02e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 275986672 12038990 GMI_AK_SNP_306835 2.02e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 290603380 12038990 SNP_109738_chr1_115036155 2.02e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 410897217 12038990 Cardio-Metabo_Chip_11395247_A_rs12038990 2.02e-01 2011.06.07 2011.06.07 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 479657917 12038990 HumanOmni2.5-4v1_B_rs12038990-128_B_F_1501409228 2.02e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 479663244 12038990 HumanOmniExpress-12v1_C_rs12038990-131_B_F_1857369510 2.02e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 480178563 12038990 HumanOmni1-Quad_v1-0_C_rs12038990-131_B_F_1865700987 2.02e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234632G>T;NG_008012.1:g.8545C>A;NM_000036.2:c.133+1425C>A;NM_001172626.1:c.122-3270C>A 484627615 12038990 HumanOmni2.5-4v1_D_rs12038990-131_B_F_1857369510 2.02e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234703A>G;NG_008012.1:g.8474T>C;NM_000036.2:c.133+1354T>C;NM_001172626.1:c.122-3341T>C 328871318 150766227 20100804_snps_514854_chr1_115234703 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 9852887 6678312 chr1.NT_019273.15_5670537 9.60e-03 2003.06.28 2006.10.25 2003.07.11 2012.11.28 137 AFFY 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 76683791 6678312 AFFY_6_1M_SNP_A-8545198 9.60e-03 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 104929307 6678312 KHS1321630 9.60e-03 2008.07.10 2008.07.10 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 160797057 6678312 HumanOmni1-Quad_v1-0_B_rs6678312-128_T_R_1562892955 9.60e-03 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 218609445 6678312 pilot_1_YRI_419128_chr1_115036256 9.60e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 481314238 6678312 HumanOmni2.5-4v1_B_rs6678312-128_T_R_1735669354 9.60e-03 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 481339376 6678312 HumanOmniExpress-12v1_C_rs6678312-131_T_R_1858003658 9.60e-03 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 482321388 6678312 HumanOmni1-Quad_v1-0_C_rs6678312-131_T_R_1865401194 9.60e-03 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115234733C>T;NG_008012.1:g.8444G>A;NM_000036.2:c.133+1324G>A;NM_001172626.1:c.121+3338G>A 485452316 6678312 HumanOmni2.5-4v1_D_rs6678312-131_T_R_1858003658 9.60e-03 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115234766T>C;NG_008012.1:g.8411A>G;NM_000036.2:c.133+1291A>G;NM_001172626.1:c.121+3305A>G 328871319 139218749 20100804_snps_514855_chr1_115234766 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 270 NC_000001.10:g.115234847C>T;NG_008012.1:g.8330G>A;NM_000036.2:c.133+1210G>A;NM_001172626.1:c.121+3224G>A 205293924 113336121 BCM_CMT_1011-126390 2010.03.15 2010.03.15 2010.07.04 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115234884G>A;NG_008012.1:g.8293C>T;NM_000036.2:c.133+1173C>T;NM_001172626.1:c.121+3187C>T 454333833 181555879 20101123_snps_501063_chr1_115234884 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115234894G>A;NG_008012.1:g.8283C>T;NM_000036.2:c.133+1163C>T;NM_001172626.1:c.121+3177C>T 328871320 149962032 20100804_snps_514856_chr1_115234894 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115234940A>G;NG_008012.1:g.8237T>C;NM_000036.2:c.133+1117T>C;NM_001172626.1:c.121+3131T>C 328871321 146022581 20100804_snps_514857_chr1_115234940 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115234963T>A;NG_008012.1:g.8214A>T;NM_000036.2:c.133+1094A>T;NM_001172626.1:c.121+3108A>T 454333834 185298575 20101123_snps_501064_chr1_115234963 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 2857929 2010899 TSC0192244 2.46e-01 2001.01.03 2003.10.10 2001.01.23 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 9853531 2010899 chr1.NT_019273.15_5670814 2.46e-01 2003.06.28 2006.10.25 2001.01.23 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 23191458 2010899 afd0682766 2.46e-01 2004.08.20 2004.09.13 2001.01.23 2012.11.28 137 ABI 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 41216119 2010899 hCV8701399 2.46e-01 2005.07.17 2005.07.17 2001.01.23 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 68778597 2010899 PGP00682766 2.46e-01 2007.01.30 2007.08.14 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 75155471 2010899 ILMN_Human_1M_rs2010899 2.46e-01 2007.08.29 2007.08.29 2001.01.23 2012.11.28 137 HGSV 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 77634975 2010899 Cor12156_SNV_20070510.chr1_114947052 2.46e-01 2007.10.14 2007.10.14 2001.01.23 2012.11.28 137 HGSV 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 85802668 2010899 Cor18517_SNV_20070510.chr1_114947052 2.46e-01 2007.12.10 2007.12.10 2001.01.23 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 87730653 2010899 JWB-0108801 2.46e-01 2008.02.26 2008.02.26 2001.01.23 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 99242744 2010899 1103675202588 2.46e-01 2008.04.03 2008.04.03 2001.01.23 2012.11.28 137 BGI 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 106596542 2010899 BGI_rs2010899 2.46e-01 2008.09.17 2009.06.16 2001.01.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 108541066 2010899 CEU.trio.12.15.2008_148150_chr1_115036533 2.46e-01 2008.12.16 2008.12.16 2001.01.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 111044825 2010899 NA19240_2008_12_16_135338_chr1_115036533 2.46e-01 2008.12.17 2008.12.17 2001.01.23 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 118985609 2010899 NA18507_000134304_NCBI36.1_chr1_115036533 2.46e-01 2009.01.22 2009.01.22 2001.01.23 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 119411994 2010899 KHS1574241 2.46e-01 2009.02.04 2009.02.04 2001.01.23 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 138064409 2010899 ENSSNP11611757 2.46e-01 2009.05.16 2009.05.16 2001.01.23 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 143206721 2010899 ENSSNP4014369 2.46e-01 2009.06.06 2009.10.19 2001.01.23 2012.11.28 137 GMI 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 155559986 2010899 GMI_SNP_71440835 2.46e-01 2009.06.24 2009.06.24 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 160488199 2010899 HumanOmni1-Quad_v1-0_B_rs2010899-128_T_R_1514095416 2.46e-01 2009.08.06 2009.10.02 2001.01.23 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 163941951 2010899 NA19240_36_chr1_115036533 2.46e-01 2009.09.29 2009.09.29 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 173042629 2010899 Human1M-Duov3_B_rs2010899-128_T_R_1514095416 2.46e-01 2009.10.02 2009.10.02 2001.01.23 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 198961518 2010899 BUSHMAN-chr1-115036532 2.46e-01 2010.03.06 2010.03.06 2001.01.23 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 205287068 2010899 BCM_CMT_1011-123122 2.46e-01 2010.03.15 2010.03.15 2001.01.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 218609446 2010899 pilot_1_YRI_419129_chr1_115036533 2.46e-01 2010.04.22 2010.04.22 2001.01.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 230701021 2010899 pilot_1_CEU_305650_chr1_115036533 2.46e-01 2010.05.01 2010.05.01 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 244286157 2010899 CVDSNP55v1_A_rs2010899 2.46e-01 2010.06.10 2010.06.10 2001.01.23 2012.11.28 137 BL 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 253401839 2010899 SNP120188_1_115036533 2.46e-01 2010.08.18 2010.08.18 2001.01.23 2012.11.28 137 GMI 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 275986673 2010899 GMI_AK_SNP_306836 2.46e-01 2010.12.16 2010.12.16 2001.01.23 2012.11.28 137 PJP 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 290603381 2010899 SNP_109739_chr1_115036533 2.46e-01 2011.01.21 2011.01.21 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 480380088 2010899 HumanOmni2.5-4v1_B_rs2010899-128_T_R_1731861386 2.46e-01 2012.01.31 2012.01.31 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 480392564 2010899 HumanOmniExpress-12v1_C_rs2010899-131_T_R_1857082486 2.46e-01 2012.01.31 2012.01.31 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 481168258 2010899 HumanOmni1-Quad_v1-0_C_rs2010899-131_T_R_1865652215 2.46e-01 2012.01.31 2012.01.31 2001.01.23 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115235010C>A;NG_008012.1:g.8167G>T;NM_000036.2:c.133+1047G>T;NM_001172626.1:c.121+3061G>T 484987626 2010899 HumanOmni2.5-4v1_D_rs2010899-131_T_R_1857082486 2.46e-01 2012.02.04 2012.02.04 2001.01.23 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235290G>A;NG_008012.1:g.7887C>T;NM_000036.2:c.133+767C>T;NM_001172626.1:c.121+2781C>T 328871322 140027450 20100804_snps_514858_chr1_115235290 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115235307T>A;NG_008012.1:g.7870A>T;NM_000036.2:c.133+750A>T;NM_001172626.1:c.121+2764A>T 328871323 143546816 20100804_snps_514859_chr1_115235307 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115235355G>C;NG_008012.1:g.7822C>G;NM_000036.2:c.133+702C>G;NM_001172626.1:c.121+2716C>G 328871324 146828606 20100804_snps_514860_chr1_115235355 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 15036768 10611520 INDEL_GP34_WGS_122035 2003.11.13 2003.11.22 2003.12.05 2012.11.28 137 ABI 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 41136391 10611520 hCV33603902 2005.07.17 2005.07.17 2003.12.05 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 50056046 10611520 INDEL_GP35_WGS_247257 2006.01.24 2006.01.24 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 95241148 10611520 1104685713243 2008.03.21 2008.12.02 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 98575614 10611520 1103675202589 2008.04.01 2008.04.01 2003.12.05 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 99393281 10611520 INDEL_GP36_2007a_891666_0 2008.05.05 2008.05.05 2003.12.05 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 99941787 10611520 INDEL_GP36_2007a_900112_0 2008.05.06 2008.05.06 2003.12.05 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 101570526 10611520 INDEL_GP36_2008a_951314_0 2008.05.17 2008.05.17 2003.12.05 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 101909806 10611520 INDEL_GP36_2008a_1741359_0 2008.05.18 2008.05.18 2003.12.05 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 193122975 10611520 BUSHMAN-chr1-115036897-115036899 2010.02.16 2010.02.16 2003.12.05 2012.11.28 137 GMI 270 NC_000001.10:g.115235375delT;NC_000001.10:g.115235375delTinsTT;NG_008012.1:g.7802delA;NG_008012.1:g.7802delAinsAA;NM_000036.2:c.133+682delA;NM_000036.2:c.133+682delAinsAA;NM_001172626.1:c.121+2696delA;NM_001172626.1:c.121+2696delAinsAA 288029322 10611520 GMI_AK_INDEL_45223 2010.12.20 2011.12.22 2003.12.05 2012.11.28 137 PJP 270 NC_000001.10:g.115235375_115235376delTT;NG_008012.1:g.7801_7802delAA;NM_000036.2:c.133+681_133+682delAA;NM_001172626.1:c.121+2695_121+2696delAA 294599650 138950067 DIP_37354_chr1_115036913 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 GMI 270 NC_000001.10:g.115235391_115235392insT;NG_008012.1:g.7785_7786insA;NM_000036.2:c.133+665_133+666insA;NM_001172626.1:c.121+2679_121+2680insA 288029324 200969454 GMI_AK_INDEL_45224 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 1000GENOMES 270 NC_000001.10:g.115235394G>A;NG_008012.1:g.7783C>T;NM_000036.2:c.133+663C>T;NM_001172626.1:c.121+2677C>T 328871325 148953455 20100804_snps_514861_chr1_115235394 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 2763603 1884296 TSC0899804 4.83e-01 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 BCM_SSAHASNP 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 9885391 1884296 chr1.NT_019273.15_5671520 4.83e-01 2003.06.28 2003.10.10 2001.01.12 2012.11.28 137 ABI 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 41197797 1884296 hCV12073060 4.83e-01 2005.07.17 2005.07.17 2001.01.12 2012.11.28 137 HGSV 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 77583237 1884296 Cor12156_SNV_20070510.chr1_114947758 4.83e-01 2007.10.13 2007.10.13 2001.01.12 2012.11.28 137 HGSV 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 85700963 1884296 Cor18517_SNV_20070510.chr1_114947758 4.83e-01 2007.12.10 2007.12.10 2001.01.12 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 87730657 1884296 JWB-0108802 4.83e-01 2008.02.26 2008.02.26 2001.01.12 2012.11.28 137 BGI 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 106596543 1884296 BGI_rs1884296 4.83e-01 2008.09.17 2009.06.16 2001.01.12 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 108541070 1884296 CEU.trio.12.15.2008_148151_chr1_115037239 4.83e-01 2008.12.16 2008.12.16 2001.01.12 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 111044833 1884296 NA19240_2008_12_16_135339_chr1_115037239 4.83e-01 2008.12.17 2008.12.17 2001.01.12 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 138064410 1884296 ENSSNP11611758 4.83e-01 2009.05.16 2009.05.16 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 163941961 1884296 NA19240_36_chr1_115037239 4.83e-01 2009.09.29 2009.09.29 2001.01.12 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 198961522 1884296 BUSHMAN-chr1-115037238 4.83e-01 2010.03.06 2010.03.06 2001.01.12 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 205289966 1884296 BCM_CMT_1011-124503 4.83e-01 2010.03.15 2010.03.15 2001.01.12 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 218609447 1884296 pilot_1_YRI_419130_chr1_115037239 4.83e-01 2010.04.22 2010.04.22 2001.01.12 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 230701022 1884296 pilot_1_CEU_305651_chr1_115037239 4.83e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 238356386 1884296 pilot_1_CHB+JPT_241463_chr1_115037239 4.83e-01 2010.05.01 2010.05.01 2001.01.12 2012.11.28 137 BL 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 253401844 1884296 SNP120189_1_115037239 4.83e-01 2010.08.18 2010.08.18 2001.01.12 2012.11.28 137 GMI 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 275986674 1884296 GMI_AK_SNP_306837 4.83e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 PJP 270 NC_000001.10:g.115235716A>C;NG_008012.1:g.7461T>G;NM_000036.2:c.133+341T>G;NM_001172626.1:c.121+2355T>G 290603382 1884296 SNP_109740_chr1_115037239 4.83e-01 2011.01.21 2011.01.21 2001.01.12 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115235739delA;NC_000001.10:g.115235739delAinsAAAT;NG_008012.1:g.7438delT;NG_008012.1:g.7438delTinsATTT;NM_000036.2:c.133+318delT;NM_000036.2:c.133+318delTinsATTT;NM_001172626.1:c.121+2332delT;NM_001172626.1:c.121+2332delTinsATTT 101953913 72307563 INDEL_GP36_2008a_2584539_0 2008.05.18 2008.05.18 2009.02.13 2012.11.28 137 GMI 270 NC_000001.10:g.115235739delA;NC_000001.10:g.115235739delAinsAAAT;NG_008012.1:g.7438delT;NG_008012.1:g.7438delTinsATTT;NM_000036.2:c.133+318delT;NM_000036.2:c.133+318delTinsATTT;NM_001172626.1:c.121+2332delT;NM_001172626.1:c.121+2332delTinsATTT 287679693 72307563 GMI_NA10851_INDEL_12293 2010.12.18 2010.12.20 2009.02.13 2012.11.28 137 GMI 270 NC_000001.10:g.115235739_115235742delAAAT;NG_008012.1:g.7435_7438delATTT;NM_000036.2:c.133+315_133+318delATTT;NM_001172626.1:c.121+2329_121+2332delATTT 288029326 200004615 GMI_AK_INDEL_45225 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 DEVINE_LAB 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 15025451 10601370 INDEL_GP34_WGS_110288 2003.11.13 2003.11.22 2003.12.05 2012.05.11 137 HGSV 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 77957503 10601370 Cor12156_DIV_20070510.chr1_114947826-114947831_1 2007.10.16 2007.10.16 2003.12.05 2012.05.11 137 HGSV 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 83893965 10601370 Cor18517_DIV_20070510.chr1_114947826-114947831_1 2007.12.06 2007.12.06 2003.12.05 2012.05.11 137 DEVINE_LAB 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 99314532 10601370 INDEL_GP36_2007a_473914_0 2008.05.04 2008.05.04 2003.12.05 2012.05.11 137 DEVINE_LAB 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 100058404 10601370 INDEL_GP36_2008a_473914_1 2008.05.16 2008.05.16 2003.12.05 2012.05.11 137 DEVINE_LAB 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 100058406 10601370 INDEL_GP36_2008a_473914_2 2008.05.16 2008.05.16 2003.12.05 2012.05.11 137 DEVINE_LAB 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 101569367 10601370 INDEL_GP36_2008a_950777_0 2008.05.17 2008.05.17 2003.12.05 2012.05.11 137 PJP 270 NC_000001.10:g.115235741_115235744delATAA;NG_008012.1:g.7433_7436delTTAT;NM_000036.2:c.133+313_133+316delTTAT;NM_001172626.1:c.121+2327_121+2330delTTAT 294599651 10601370 DIP_37355_chr1_115037308 2011.01.21 2011.01.21 2003.12.05 2012.05.11 137 ENSEMBL 270 NC_000001.10:g.115235781A>G;NG_008012.1:g.7396T>C;NM_000036.2:c.133+276T>C;NM_001172626.1:c.121+2290T>C 131642285 79658258 ENSSNP20423 1.79e-01 2009.05.11 2009.10.14 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235781A>G;NG_008012.1:g.7396T>C;NM_000036.2:c.133+276T>C;NM_001172626.1:c.121+2290T>C 328871327 79658258 20100804_snps_514863_chr1_115235781 1.79e-01 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 SC_SNP 270 NC_000001.10:g.115235785A>G;NG_008012.1:g.7392T>C;NM_000036.2:c.133+272T>C;NM_001172626.1:c.121+2286T>C 18273189 12132598 SC-CHR1_NA07340-200402.chr1.NT_019273.16_6231733 2.53e-01 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115235785A>G;NG_008012.1:g.7392T>C;NM_000036.2:c.133+272T>C;NM_001172626.1:c.121+2286T>C 20460647 12132598 WGSA-200403-chr1.chr1.NT_019273.16_6231733 2.53e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115235785A>G;NG_008012.1:g.7392T>C;NM_000036.2:c.133+272T>C;NM_001172626.1:c.121+2286T>C 97969164 12132598 1103675202591 2.53e-01 2008.03.30 2008.03.30 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115235785A>G;NG_008012.1:g.7392T>C;NM_000036.2:c.133+272T>C;NM_001172626.1:c.121+2286T>C 131642288 12132598 ENSSNP20424 2.53e-01 2009.05.11 2009.10.14 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235785A>G;NG_008012.1:g.7392T>C;NM_000036.2:c.133+272T>C;NM_001172626.1:c.121+2286T>C 328871328 12132598 20100804_snps_514864_chr1_115235785 2.53e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115235821A>G;NG_008012.1:g.7356T>C;NM_000036.2:c.133+236T>C;NM_001172626.1:c.121+2250T>C 205525907 112311590 BCM_CMT_1011-241852 2010.03.16 2010.03.16 2010.07.04 2011.07.08 137 ILLUMINA-UK 270 NC_000001.10:g.115235905A>G;NG_008012.1:g.7272T>C;NM_000036.2:c.133+152T>C;NM_001172626.1:c.121+2166T>C 118985614 79972831 NA18507_000134305_NCBI36.1_chr1_115037428 4.17e-02 2009.01.22 2009.01.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235905A>G;NG_008012.1:g.7272T>C;NM_000036.2:c.133+152T>C;NM_001172626.1:c.121+2166T>C 218609448 79972831 pilot_1_YRI_419131_chr1_115037428 4.17e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115235905A>G;NG_008012.1:g.7272T>C;NM_000036.2:c.133+152T>C;NM_001172626.1:c.121+2166T>C 230701023 79972831 pilot_1_CEU_305652_chr1_115037428 4.17e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115236021T>A;NG_008012.1:g.7156A>T;NM_000036.2:c.133+36A>T;NM_001172626.1:c.121+2050A>T 198961525 112134699 BUSHMAN-chr1-115037543 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115236052C>T;NG_008012.1:g.7125G>A;NM_000036.2:c.133+5G>A;NM_001172626.1:c.121+2019G>A 238356387 117880627 pilot_1_CHB+JPT_241464_chr1_115037575 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 NHLBI-ESP 270 NC_000001.10:g.115236056C>T;NG_008012.1:g.7121G>A;NM_000036.2:c.133+1G>A;NM_001172626.1:c.121+2015G>A 341983657 146599099 ESP2500-chr1-115236056 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 EXOME_CHIP 270 NC_000001.10:g.115236056C>T;NG_008012.1:g.7121G>A;NM_000036.2:c.133+1G>A;NM_001172626.1:c.121+2015G>A 491298740 146599099 splice_14967_chr_1_115236056 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 24267495 17602729 afd0682768 5.36e-02 germline pathogenic 2004.08.21 2004.09.13 2004.09.20 2013.02.07 137 PERLEGEN 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 68778598 17602729 PGP00682768 5.36e-02 germline pathogenic 2007.01.30 2008.03.31 2004.09.20 2013.02.07 137 AFFY 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 74820849 17602729 SNP_M-323645 5.36e-02 germline pathogenic 2007.08.09 2007.08.09 2004.09.20 2013.02.07 137 AFFY 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 76753856 17602729 AFFY_6_1M_SNP_A-8615215 5.36e-02 germline pathogenic 2007.08.30 2007.08.30 2004.09.20 2013.02.07 137 CANCER-GENOME 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 86342065 17602729 380 5.36e-02 germline pathogenic 2008.01.25 2008.01.25 2004.09.20 2013.02.07 137 KRIBB_YJKIM 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 105102733 17602729 KHS1495056 5.36e-02 germline pathogenic 2008.07.11 2008.07.11 2004.09.20 2013.02.07 137 1000GENOMES 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 108541074 17602729 CEU.trio.12.15.2008_148152_chr1_115037580 5.36e-02 germline pathogenic 2008.12.16 2008.12.16 2004.09.20 2013.02.07 137 SEATTLESEQ 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 159698390 17602729 AMPD1-115037580 5.36e-02 germline pathogenic 2009.07.10 2009.07.10 2004.09.20 2013.02.07 137 ILLUMINA 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 160449314 17602729 HumanOmni1-Quad_v1-0_B_rs17602729-128_T_F_1513232736 5.36e-02 germline pathogenic 2009.08.06 2009.10.02 2004.09.20 2013.02.07 137 OMICIA 270 NC_000001.9:g.115037580G>A NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 169586357 17602729 2009_August_001_002_AMPD1_102770_0001 5.36e-02 germline pathogenic 2009.10.01 2012.08.28 2004.09.20 2013.02.07 137 ILLUMINA 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 172857974 17602729 Human1M-Duov3_B_rs17602729-128_T_F_1513232736 5.36e-02 germline pathogenic 2009.10.02 2009.10.02 2004.09.20 2013.02.07 137 1000GENOMES 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 230701024 17602729 pilot_1_CEU_305653_chr1_115037580 5.36e-02 germline pathogenic 2010.05.01 2010.05.01 2004.09.20 2013.02.07 137 NHLBI-ESP 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 341983661 17602729 ESP2500-chr1-115236057 5.36e-02 germline pathogenic 2011.03.25 2011.03.25 2004.09.20 2013.02.07 137 ILLUMINA 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 480258422 17602729 HumanOmni2.5-4v1_B_rs17602729-128_T_F_1616886998 5.36e-02 germline pathogenic 2012.01.31 2012.01.31 2004.09.20 2013.02.07 137 ILLUMINA 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 480269270 17602729 HumanOmniExpress-12v1_C_rs17602729-128_T_F_1616886998 5.36e-02 germline pathogenic 2012.01.31 2012.01.31 2004.09.20 2013.02.07 137 ILLUMINA 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 481013251 17602729 HumanOmni1-Quad_v1-0_C_rs17602729-128_T_F_1616886998 5.36e-02 germline pathogenic 2012.01.31 2012.01.31 2004.09.20 2013.02.07 137 ILLUMINA 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 484927116 17602729 HumanOmni2.5-4v1_D_rs17602729-128_T_F_1616886998 5.36e-02 germline pathogenic 2012.02.04 2012.02.04 2004.09.20 2013.02.07 137 EXOME_CHIP 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 491298741 17602729 stopgl_14968_chr_1_115236057 5.36e-02 germline pathogenic 2012.03.05 2012.03.05 2004.09.20 2013.02.07 137 CLINSEQ_SNP 270 NC_000001.10:g.115236057G>A;NG_008012.1:g.7120C>T;NM_000036.2:c.133C>T;NM_001172626.1:c.121+2014C>T;NP_000027.2:p.Gln45Ter 491600822 17602729 SNV-chr1-115037580 5.36e-02 germline pathogenic 2012.03.06 2012.03.12 2004.09.20 2013.02.07 137 BUSHMAN 270 NC_000001.10:g.115236086A>G;NG_008012.1:g.7091T>C;NM_000036.2:c.122-18T>C;NM_001172626.1:c.121+1985T>C 198961530 111523102 BUSHMAN-chr1-115037608 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115236125G>T;NG_008012.1:g.7052C>A;NM_000036.2:c.122-57C>A;NM_001172626.1:c.121+1946C>A 454333835 190159136 20101123_snps_501065_chr1_115236125 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115236160T>C;NG_008012.1:g.7017A>G;NM_000036.2:c.122-92A>G;NM_001172626.1:c.121+1911A>G 454333836 182463974 20101123_snps_501066_chr1_115236160 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115236305A>G;NG_008012.1:g.6872T>C;NM_000036.2:c.122-237T>C;NM_001172626.1:c.121+1766T>C 454333837 186006022 20101123_snps_501067_chr1_115236305 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115236310C>T;NG_008012.1:g.6867G>A;NM_000036.2:c.122-242G>A;NM_001172626.1:c.121+1761G>A 328871329 146910232 20100804_snps_514865_chr1_115236310 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115236439T>C;NG_008012.1:g.6738A>G;NM_000036.2:c.122-371A>G;NM_001172626.1:c.121+1632A>G 454333838 190926059 20101123_snps_501068_chr1_115236439 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115236545G>A;NG_008012.1:g.6632C>T;NM_000036.2:c.122-477C>T;NM_001172626.1:c.121+1526C>T 328871330 139297362 20100804_snps_514866_chr1_115236545 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 9892088 6697362 chr1.NT_019273.15_5672383 2.80e-01 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 16429498 6697362 CSHL-HuAA-200402.chr1.NT_019273.16_6232527 2.80e-01 2004.02.17 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 20485240 6697362 WGSA-200403-chr1.chr1.NT_019273.16_6232527 2.80e-01 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 80126109 6697362 Cor18507_SNV_20070510.chr1_114948621 2.80e-01 2007.11.24 2007.11.24 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 83337599 6697362 Cor18555_SNV_20070510.chr1_114948621 2.80e-01 2007.12.04 2007.12.04 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 84107532 6697362 Cor19240_SNV_20070510.chr1_114948621 2.80e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 87730661 6697362 JWB-0108803 2.80e-01 2008.02.26 2008.02.26 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 97969165 6697362 1103675202592 2.80e-01 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 108541078 6697362 CEU.trio.12.15.2008_148153_chr1_115038102 2.80e-01 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 118985619 6697362 NA18507_000134306_NCBI36.1_chr1_115038102 2.80e-01 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 138064411 6697362 ENSSNP6715558 2.80e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 139270195 6697362 ENSSNP20425 2.80e-01 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 155559994 6697362 GMI_SNP_133487739 2.80e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 163941970 6697362 NA19240_36_chr1_115038102 2.80e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 165070115 6697362 NA07022_36_chr1_115038102 2.80e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 167025362 6697362 NA20431_36_chr1_115038102 2.80e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 198961534 6697362 BUSHMAN-chr1-115038101 2.80e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 205481337 6697362 BCM_CMT_1011-219764 2.80e-01 2010.03.16 2010.03.16 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 230701025 6697362 pilot_1_CEU_305654_chr1_115038102 2.80e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 238356388 6697362 pilot_1_CHB+JPT_241465_chr1_115038102 2.80e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 253401849 6697362 SNP120190_1_115038102 2.80e-01 2010.08.18 2010.08.18 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 275986675 6697362 GMI_AK_SNP_306838 2.80e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 270 NC_000001.10:g.115236579A>T;NG_008012.1:g.6598T>A;NM_000036.2:c.122-511T>A;NM_001172626.1:c.121+1492T>A 290603383 6697362 SNP_109741_chr1_115038102 2.80e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115236669G>A;NG_008012.1:g.6508C>T;NM_000036.2:c.122-601C>T;NM_001172626.1:c.121+1402C>T 454333839 184025936 20101123_snps_501069_chr1_115236669 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115236731T>A;NG_008012.1:g.6446A>T;NM_000036.2:c.122-663A>T;NM_001172626.1:c.121+1340A>T 454333840 188078603 20101123_snps_501070_chr1_115236731 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115236761C>T;NG_008012.1:g.6416G>A;NM_000036.2:c.122-693G>A;NM_001172626.1:c.121+1310G>A 454333841 191968644 20101123_snps_501071_chr1_115236761 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115236762G>A;NG_008012.1:g.6415C>T;NM_000036.2:c.122-694C>T;NM_001172626.1:c.121+1309C>T 454333842 183070373 20101123_snps_501072_chr1_115236762 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 270 NC_000001.10:g.115236794A>G;NG_008012.1:g.6383T>C;NM_000036.2:c.122-726T>C;NM_001172626.1:c.121+1277T>C 275986676 142001626 GMI_AK_SNP_306839 3.85e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115236794A>G;NG_008012.1:g.6383T>C;NM_000036.2:c.122-726T>C;NM_001172626.1:c.121+1277T>C 328871331 142001626 20100804_snps_514867_chr1_115236794 3.85e-02 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115236800G>C;NG_008012.1:g.6377C>G;NM_000036.2:c.122-732C>G;NM_001172626.1:c.121+1271C>G 205551994 111458369 BCM_CMT_1011-255032 2010.03.16 2010.03.16 2010.07.04 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115236871_115236872insA;NG_008012.1:g.6305_6306insT;NM_000036.2:c.122-804_122-803insT;NM_001172626.1:c.121+1199_121+1200insT 498977573 200842534 20110316_indels_chr1_115236871_115236872 3.07e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 HGSV 270 NC_000001.10:g.115236881C>A;NG_008012.1:g.6296G>T;NM_000036.2:c.122-813G>T;NM_001172626.1:c.121+1190G>T 78932862 55798726 Cor18507_SNV_20070510.chr1_114948923 3.94e-02 2007.10.21 2007.10.21 2007.12.06 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115236881C>A;NG_008012.1:g.6296G>T;NM_000036.2:c.122-813G>T;NM_001172626.1:c.121+1190G>T 118985623 55798726 NA18507_000134307_NCBI36.1_chr1_115038404 3.94e-02 2009.01.22 2009.01.22 2007.12.06 2012.11.28 137 GMI 270 NC_000001.10:g.115236881C>A;NG_008012.1:g.6296G>T;NM_000036.2:c.122-813G>T;NM_001172626.1:c.121+1190G>T 155560002 55798726 GMI_SNP_237741323 3.94e-02 2009.06.24 2009.06.24 2007.12.06 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115236881C>A;NG_008012.1:g.6296G>T;NM_000036.2:c.122-813G>T;NM_001172626.1:c.121+1190G>T 218609449 55798726 pilot_1_YRI_419132_chr1_115038404 3.94e-02 2010.04.22 2010.04.22 2007.12.06 2012.11.28 137 GMI 270 NC_000001.10:g.115236881C>A;NG_008012.1:g.6296G>T;NM_000036.2:c.122-813G>T;NM_001172626.1:c.121+1190G>T 275986677 55798726 GMI_AK_SNP_306840 3.94e-02 2010.12.16 2010.12.16 2007.12.06 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115237048T>A;NG_008012.1:g.6129A>T;NM_000036.2:c.122-980A>T;NM_001172626.1:c.121+1023A>T 328871332 145765267 20100804_snps_514868_chr1_115237048 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115237050A>G;NG_008012.1:g.6127T>C;NM_000036.2:c.122-982T>C;NM_001172626.1:c.121+1021T>C 454333843 187047966 20101123_snps_501073_chr1_115237050 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115237059C>A;NG_008012.1:g.6118G>T;NM_000036.2:c.122-991G>T;NM_001172626.1:c.121+1012G>T 454333844 191696429 20101123_snps_501074_chr1_115237059 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115237061delT;NG_008012.1:g.6116delA;NM_000036.2:c.122-993delA;NM_001172626.1:c.121+1010delA 498977577 202131855 20110316_indels_chr1_115237060_115237060 1.43e-01 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 16433951 11585780 CSHL-HuAA-200402.chr1.NT_019273.16_6233013 4.52e-01 2004.02.17 2006.10.26 2004.02.28 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 20526743 11585780 WGSA-200403-chr1.chr1.NT_019273.16_6233013 4.52e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 68778599 11585780 PGP07906182 4.52e-01 2007.01.30 2007.01.30 2004.02.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 77786965 11585780 Cor12156_SNV_20070510.chr1_114949107 4.52e-01 2007.10.14 2007.10.14 2004.02.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 87730665 11585780 JWB-0108804 4.52e-01 2008.02.26 2008.02.26 2004.02.28 2012.11.28 137 BGI 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 106596544 11585780 BGI_rs11585780 4.52e-01 2008.09.17 2009.06.16 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 108541082 11585780 CEU.trio.12.15.2008_148154_chr1_115038588 4.52e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 131642291 11585780 ENSSNP20427 4.52e-01 2009.05.11 2009.10.14 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 138064412 11585780 ENSSNP11611760 4.52e-01 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 159983007 11585780 HumanOmni1-Quad_v1-0_B_rs11585780-128_B_F_1562880786 4.52e-01 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 163941981 11585780 NA19240_36_chr1_115038588 4.52e-01 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 198961539 11585780 BUSHMAN-chr1-115038587 4.52e-01 2010.03.06 2010.03.06 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 205454663 11585780 BCM_CMT_1011-206373 4.52e-01 2010.03.16 2010.03.16 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 210622906 11585780 YRI.trio.3.2010_59421_chr1_115038588 4.52e-01 2010.03.29 2010.03.29 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 218609450 11585780 pilot_1_YRI_419133_chr1_115038588 4.52e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 230701026 11585780 pilot_1_CEU_305655_chr1_115038588 4.52e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 238356389 11585780 pilot_1_CHB+JPT_241466_chr1_115038588 4.52e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 253401851 11585780 SNP120191_1_115038588 4.52e-01 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 275986678 11585780 GMI_AK_SNP_306841 4.52e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 290603384 11585780 SNP_109742_chr1_115038588 4.52e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115237065T>A;NG_008012.1:g.6112A>T;NM_000036.2:c.122-997A>T;NM_001172626.1:c.121+1006A>T 479997859 11585780 HumanOmni1-Quad_v1-0_C_rs11585780-131_B_F_1863279509 4.52e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 WI_SSAHASNP 270 NC_000001.10:g.115237329G>A;NG_008012.1:g.5848C>T;NM_000036.2:c.121+742C>T;NM_001172626.1:c.121+742C>T 11353648 7518060 chr1.NT_019273.15_5673133 2003.07.03 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115237396T>C;NG_008012.1:g.5781A>G;NM_000036.2:c.121+675A>G;NM_001172626.1:c.121+675A>G 454333845 184909499 20101123_snps_501075_chr1_115237396 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115237505T>C;NG_008012.1:g.5672A>G;NM_000036.2:c.121+566A>G;NM_001172626.1:c.121+566A>G 454333846 189416570 20101123_snps_501076_chr1_115237505 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 270 NC_000001.10:g.115237530G>C;NG_008012.1:g.5647C>G;NM_000036.2:c.121+541C>G;NM_001172626.1:c.121+541C>G 9822188 6663302 chr1.NT_019273.15_5673334 9.20e-03 2003.06.28 2006.10.25 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115237530G>C;NG_008012.1:g.5647C>G;NM_000036.2:c.121+541C>G;NM_001172626.1:c.121+541C>G 218609451 6663302 pilot_1_YRI_419134_chr1_115039053 9.20e-03 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238016delC;NG_008012.1:g.5161delG;NM_000036.2:c.121+55delG;NM_001172626.1:c.121+55delG 326078526 147123542 JPTCHB_chr1_115039538_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 95241149 68036474 1104685713244 2008.03.21 2008.12.02 2009.02.06 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 99593466 68036474 INDEL_GP36_2007a_938536_0 2008.05.05 2008.05.05 2009.02.06 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 100926113 68036474 INDEL_GP36_2008a_1265193_0 2008.05.17 2008.05.17 2009.02.06 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 101335661 68036474 INDEL_GP36_2008a_1533132_0 2008.05.17 2008.05.17 2009.02.06 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 101805443 68036474 INDEL_GP36_2008a_538884_0 2008.05.18 2008.05.18 2009.02.06 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 101805446 68036474 INDEL_GP36_2008a_538884_1 2008.05.18 2008.05.18 2009.02.06 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 101805449 68036474 INDEL_GP36_2008a_538884_2 2008.05.18 2008.05.18 2009.02.06 2012.11.28 137 DEVINE_LAB 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 101805452 68036474 INDEL_GP36_2008a_538884_3 2008.05.18 2008.05.18 2009.02.06 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 193122977 68036474 BUSHMAN-chr1-115039539-115039540 2010.02.16 2010.02.16 2009.02.06 2012.11.28 137 GMI 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 287679694 68036474 GMI_NA10851_INDEL_12294 2010.12.18 2010.12.20 2009.02.06 2012.11.28 137 GMI 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 288029328 68036474 GMI_AK_INDEL_45226 2010.12.20 2011.12.22 2009.02.06 2012.11.28 137 GMI 270 NC_000001.10:g.115238017_115238018delAA;NG_008012.1:g.5159_5160delTT;NM_000036.2:c.121+53_121+54delTT;NM_001172626.1:c.121+53_121+54delTT 288029330 200909380 GMI_AK_INDEL_45227 2010.12.20 2011.12.22 2012.05.04 2012.05.04 137 PJP 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 294599652 68036474 DIP_37356_chr1_115039540 2011.01.21 2011.01.21 2009.02.06 2012.11.28 137 PJP 270 NC_000001.10:g.115238017delA;NG_008012.1:g.5160delT;NM_000036.2:c.121+54delT;NM_001172626.1:c.121+54delT 294599653 68036474 DIP_37357_chr1_115039554 2011.01.21 2011.01.21 2009.02.06 2012.11.28 137 CLINSEQ_SNP 270 NC_000001.10:g.115238029A>C;NG_008012.1:g.5148T>G;NM_000036.2:c.121+42T>G;NM_001172626.1:c.121+42T>G 491600823 201623044 SNV-chr1-115039552 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115238030A>C;NG_008012.1:g.5147T>G;NM_000036.2:c.121+41T>G;NM_001172626.1:c.121+41T>G 138064413 75441249 ENSSNP11611761 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 CLINSEQ_SNP 270 NC_000001.10:g.115238032C>A;NG_008012.1:g.5145G>T;NM_000036.2:c.121+39G>T;NM_001172626.1:c.121+39G>T 491600824 200377594 SNV-chr1-115039555 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238094G>A;NG_008012.1:g.5083C>T;NM_000036.2:c.98C>T;NM_001172626.1:c.98C>T;NP_000027.2:p.Thr33Ile;NP_001166097.1:p.Thr33Ile 454333847 192509679 20101123_snps_501077_chr1_115238094 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115238392T>A;NG_008012.1:g.4785A>T;NM_000036.2:c.-201A>T;NM_001172626.1:c.-201A>T 454333848 185487282 20101123_snps_501078_chr1_115238392 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115238552_115238553insCACACACGCACACG;NG_008012.1:g.4624_4625insCGTGTGCGTGTGTG;NM_000036.2:c.-362_-361insCGTGTGCGTGTGTG;NM_001172626.1:c.-362_-361insCGTGTGCGTGTGTG 326078529 146675064 JPTCHB_chr1_115040075_indel 4.17e-02 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238552_115238553insCACACACGCACACG;NG_008012.1:g.4624_4625insCGTGTGCGTGTGTG;NM_000036.2:c.-362_-361insCGTGTGCGTGTGTG;NM_001172626.1:c.-362_-361insCGTGTGCGTGTGTG 326081440 146675064 CEU_chr1_115040075_indel 4.17e-02 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238552_115238553insCACACACGCACACG;NG_008012.1:g.4624_4625insCGTGTGCGTGTGTG;NM_000036.2:c.-362_-361insCGTGTGCGTGTGTG;NM_001172626.1:c.-362_-361insCGTGTGCGTGTGTG 326107551 146675064 YRI_chr1_115040075_indel 4.17e-02 2011.03.11 2011.04.01 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238552_115238553insCACACACGCACACG;NG_008012.1:g.4624_4625insCGTGTGCGTGTGTG;NM_000036.2:c.-362_-361insCGTGTGCGTGTGTG;NM_001172626.1:c.-362_-361insCGTGTGCGTGTGTG 498977581 146675064 20110316_indels_chr1_115238552_115238553 4.17e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238565C>T;NG_008012.1:g.4612G>A;NM_000036.2:c.-374G>A;NM_001172626.1:c.-374G>A 218609452 114682725 pilot_1_YRI_419135_chr1_115040088 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238593T>C;NG_008012.1:g.4584A>G;NM_000036.2:c.-402A>G;NM_001172626.1:c.-402A>G 218609453 115239946 pilot_1_YRI_419136_chr1_115040116 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115238616C>G;NG_008012.1:g.4561G>C;NM_000036.2:c.-425G>C;NM_001172626.1:c.-425G>C 328871333 138543748 20100804_snps_514869_chr1_115238616 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 MPI_MOLGEN 270 NC_000001.10:g.115238696G>A;NG_008012.1:g.4481C>T;NM_000036.2:c.-505C>T;NM_001172626.1:c.-505C>T 469110894 183580940 Chromosome1_115040219 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 1000GENOMES 270 NC_000001.10:g.115238708C>T;NG_008012.1:g.4469G>A;NM_000036.2:c.-517G>A;NM_001172626.1:c.-517G>A 328871334 149267451 20100804_snps_514870_chr1_115238708 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115238833C>T;NG_008012.1:g.4344G>A;NM_000036.2:c.-642G>A;NM_001172626.1:c.-642G>A 328871335 144479019 20100804_snps_514871_chr1_115238833 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BGI 270 NC_000001.10:g.115238891T>A;NG_008012.1:g.4286A>T;NM_000036.2:c.-700A>T;NM_001172626.1:c.-700A>T 102777130 79229978 BGI_YHSNP0141925 2008.06.04 2009.06.16 2009.12.01 2011.07.08 137 1000GENOMES 270 NC_000001.10:g.115238911G>A;NG_008012.1:g.4266C>T;NM_000036.2:c.-720C>T;NM_001172626.1:c.-720C>T 454333849 189350204 20101123_snps_501079_chr1_115238911 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 9830145 6667218 chr1.NT_019273.15_5674786 1.86e-01 2003.06.28 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 16444187 6667218 CSHL-HuAA-200402.chr1.NT_019273.16_6234930 1.86e-01 2004.02.17 2006.10.26 2003.07.11 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 19140740 6667218 CSHL-HuDD-200402.chr1.NT_019273.16_6234930 1.86e-01 2004.02.20 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 20439938 6667218 WGSA-200403-chr1.chr1.NT_019273.16_6234930 1.86e-01 2004.03.18 2004.03.18 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 75155552 6667218 ILMN_Human_1M_rs6667218 1.86e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 77130058 6667218 Cor12156_SNV_20070510.chr1_114951024 1.86e-01 2007.10.09 2007.10.11 2003.07.11 2012.11.28 137 HGSV 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 84176099 6667218 Cor19129_SNV_20070510.chr1_114951024 1.86e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 87730669 6667218 JWB-0108805 1.86e-01 2008.02.26 2008.02.26 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 97969166 6667218 1103675202593 1.86e-01 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 106596545 6667218 BGI_rs6667218 1.86e-01 2008.09.17 2009.06.16 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 108541086 6667218 CEU.trio.12.15.2008_148155_chr1_115040505 1.86e-01 2008.12.16 2008.12.16 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 111044851 6667218 NA19240_2008_12_16_135341_chr1_115040505 1.86e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 118985626 6667218 NA18507_000134308_NCBI36.1_chr1_115040505 1.86e-01 2009.01.22 2009.01.22 2003.07.11 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 119519881 6667218 KHS1682128 1.86e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 138064414 6667218 ENSSNP6255332 1.86e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 139270192 6667218 ENSSNP20428 1.86e-01 2009.05.18 2009.10.16 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 155560010 6667218 GMI_SNP_72242735 1.86e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 160795852 6667218 HumanOmni1-Quad_v1-0_B_rs6667218-128_T_F_1514115061 1.86e-01 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 163941991 6667218 NA19240_36_chr1_115040505 1.86e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 167025369 6667218 NA20431_36_chr1_115040505 1.86e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 174061657 6667218 Human1M-Duov3_B_rs6667218-128_T_F_1514115061 1.86e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 198961543 6667218 BUSHMAN-chr1-115040504 1.86e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 205258860 6667218 BCM_CMT_1011-109160 1.86e-01 2010.03.15 2010.03.15 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 218609454 6667218 pilot_1_YRI_419137_chr1_115040505 1.86e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 230701027 6667218 pilot_1_CEU_305656_chr1_115040505 1.86e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 238356390 6667218 pilot_1_CHB+JPT_241467_chr1_115040505 1.86e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 253401855 6667218 SNP120192_1_115040505 1.86e-01 2010.08.18 2010.08.18 2003.07.11 2012.11.28 137 GMI 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 275986679 6667218 GMI_AK_SNP_306842 1.86e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 290603385 6667218 SNP_109743_chr1_115040505 1.86e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 481310552 6667218 HumanOmni2.5-4v1_B_rs6667218-128_T_F_1673345686 1.86e-01 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 481335601 6667218 HumanOmniExpress-12v1_C_rs6667218-131_T_F_1857015699 1.86e-01 2012.01.31 2012.01.31 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 482317777 6667218 HumanOmni1-Quad_v1-0_C_rs6667218-131_T_F_1865381663 1.86e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115238982G>A;NG_008012.1:g.4195C>T;NM_000036.2:c.-791C>T;NM_001172626.1:c.-791C>T 485450482 6667218 HumanOmni2.5-4v1_D_rs6667218-131_T_F_1857015699 1.86e-01 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 1000GENOMES 270 ARRAY(0x329bf480) 498977585 201562184 20110316_indels_chr1_115239014_115239015 1.83e-02 2012.03.19 2012.03.19 2012.05.04 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239046C>T;NG_008012.1:g.4131G>A;NM_000036.2:c.-855G>A;NM_001172626.1:c.-855G>A 454333850 181409126 20101123_snps_501080_chr1_115239046 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115239059C>T;NG_008012.1:g.4118G>A;NM_000036.2:c.-868G>A;NM_001172626.1:c.-868G>A 328871336 148040404 20100804_snps_514872_chr1_115239059 1.79e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115239142C>T;NG_008012.1:g.4035G>A;NM_000036.2:c.-951G>A;NM_001172626.1:c.-951G>A 454333851 185942976 20101123_snps_501081_chr1_115239142 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115239153C>T;NG_008012.1:g.4024G>A;NM_000036.2:c.-962G>A;NM_001172626.1:c.-962G>A 328871337 141712628 20100804_snps_514873_chr1_115239153 4.12e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115239309C>T;NG_008012.1:g.3868G>A;NM_000036.2:c.-1118G>A;NM_001172626.1:c.-1118G>A 454333852 189054120 20101123_snps_501082_chr1_115239309 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 16446348 11588144 CSHL-HuAA-200402.chr1.NT_019273.16_6235303 4.00e-01 2004.02.17 2006.10.26 2004.02.28 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 20461201 11588144 WGSA-200403-chr1.chr1.NT_019273.16_6235303 4.00e-01 2004.03.18 2004.03.18 2004.02.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 23861510 11588144 afd0682770 4.00e-01 2004.08.20 2004.09.13 2004.02.28 2012.11.28 137 ABI 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 41295156 11588144 hCV26680590 4.00e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 PERLEGEN 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 68778600 11588144 PGP00682770 4.00e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 AFFY 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 74854010 11588144 SNP_M-613913 4.00e-01 2007.08.09 2007.08.09 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 75101669 11588144 ILMN_Human_1M_rs11588144 4.00e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 HGSV 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 85804933 11588144 Cor19129_SNV_20070510.chr1_114951397 4.00e-01 2007.12.10 2007.12.10 2004.02.28 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 87730672 11588144 JWB-0108806 4.00e-01 2008.02.26 2008.02.26 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 97969167 11588144 1103675202594 4.00e-01 2008.03.30 2008.03.30 2004.02.28 2012.11.28 137 BGI 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 106596546 11588144 BGI_rs11588144 4.00e-01 2008.09.17 2009.06.16 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 108541092 11588144 CEU.trio.12.15.2008_148156_chr1_115040878 4.00e-01 2008.12.16 2008.12.16 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 111044859 11588144 NA19240_2008_12_16_135342_chr1_115040878 4.00e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ILLUMINA-UK 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 118985631 11588144 NA18507_000134309_NCBI36.1_chr1_115040878 4.00e-01 2009.01.22 2009.01.22 2004.02.28 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 119692620 11588144 KHS1810416 4.00e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 138064415 11588144 ENSSNP6762570 4.00e-01 2009.05.16 2009.05.16 2004.02.28 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 139270189 11588144 ENSSNP20429 4.00e-01 2009.05.18 2009.10.16 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 159983246 11588144 HumanOmni1-Quad_v1-0_B_rs11588144-128_B_R_1514061545 4.00e-01 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 163942001 11588144 NA19240_36_chr1_115040878 4.00e-01 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 165070128 11588144 NA07022_36_chr1_115040878 4.00e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 167025380 11588144 NA20431_36_chr1_115040878 4.00e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 171317580 11588144 Human1M-Duov3_B_rs11588144-128_B_R_1514061545 4.00e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 198961546 11588144 BUSHMAN-chr1-115040877 4.00e-01 2010.03.06 2010.03.06 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 205082602 11588144 BCM_CMT_1011-21958 4.00e-01 2010.03.15 2010.03.15 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 218609455 11588144 pilot_1_YRI_419138_chr1_115040878 4.00e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 230701029 11588144 pilot_1_CEU_305658_chr1_115040878 4.00e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 238356391 11588144 pilot_1_CHB+JPT_241468_chr1_115040878 4.00e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 BL 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 253401857 11588144 SNP120193_1_115040878 4.00e-01 2010.08.18 2010.08.18 2004.02.28 2012.11.28 137 GMI 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 275986680 11588144 GMI_AK_SNP_306843 4.00e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 290603386 11588144 SNP_109744_chr1_115040878 4.00e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 479533632 11588144 HumanOmni2.5-4v1_B_rs11588144-128_B_R_1731861384 4.00e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 479537495 11588144 HumanOmniExpress-12v1_C_rs11588144-131_B_R_1857277909 4.00e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 479998814 11588144 HumanOmni1-Quad_v1-0_C_rs11588144-131_B_R_1865209931 4.00e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239355G>A;NG_008012.1:g.3822C>T;NM_000036.2:c.-1164C>T;NM_001172626.1:c.-1164C>T 484565706 11588144 HumanOmni2.5-4v1_D_rs11588144-131_B_R_1857277909 4.00e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239436C>T;NG_008012.1:g.3741G>A;NM_000036.2:c.-1245G>A;NM_001172626.1:c.-1245G>A 328871338 146034188 20100804_snps_514874_chr1_115239436 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 270 NC_000001.10:g.115239617C>G;NG_008012.1:g.3560G>C;NM_000036.2:c.-1426G>C;NM_001172626.1:c.-1426G>C 454333853 181246313 20101123_snps_501083_chr1_115239617 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115239758A>G;NG_008012.1:g.3419T>C;NM_000036.2:c.-1567T>C;NM_001172626.1:c.-1567T>C 328871339 139965600 20100804_snps_514875_chr1_115239758 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 1364700 926938 TSC0243277 4.66e-01 2000.09.06 2006.10.25 2000.10.05 2012.11.28 137 SC_SNP 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 15451794 926938 NT_019273.16_6235764 4.66e-01 2003.11.14 2004.05.16 2000.10.05 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 17361408 926938 CSHL-HuCC-200402.chr1.NT_019273.16_6235764 4.66e-01 2004.02.19 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 20564842 926938 WGSA-200403-chr1.chr1.NT_019273.16_6235764 4.66e-01 2004.03.18 2004.03.18 2000.10.05 2012.11.28 137 ABI 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 43991138 926938 hCV8701398 4.66e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 65778500 926938 Human1-rs926938 4.66e-01 2006.10.10 2006.10.10 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 66821180 926938 HumanHap300v1.1_rs926938 4.66e-01 2006.11.09 2006.11.09 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 67897138 926938 HumanHap550v1.1_rs926938 4.66e-01 2006.11.14 2006.11.14 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 68030996 926938 HumanHap650Yv1.0_rs926938 4.66e-01 2006.11.15 2006.11.15 2000.10.05 2012.11.28 137 CSHL-HAPMAP 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 68373995 926938 sanger:assay:1408246:1 4.66e-01 2007.01.11 2007.01.16 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 71595651 926938 HumanHap650Yv3.0_rs926938 4.66e-01 2007.04.23 2007.04.23 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 75818971 926938 ILMN_Human_1M_rs926938 4.66e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 77591206 926938 Cor12156_SNV_20070510.chr1_114951858 4.66e-01 2007.10.13 2007.10.13 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 79290215 926938 HumanHap300v2.0_rs926938 4.66e-01 2007.11.18 2007.11.18 2000.10.05 2012.11.28 137 HGSV 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 83380011 926938 Cor18555_SNV_20070510.chr1_114951858 4.66e-01 2007.12.04 2007.12.04 2000.10.05 2012.11.28 137 KRIBB_YJKIM 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 83615779 926938 KHS502402 4.66e-01 2007.12.05 2007.12.05 2000.10.05 2012.11.28 137 BCMHGSC_JDW 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 87730676 926938 JWB-0108807 4.66e-01 2008.02.26 2008.02.26 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 97969168 926938 1103675202595 4.66e-01 2008.03.30 2008.03.30 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 98238605 926938 HumanHap550v3.0__rs926938 4.66e-01 2008.03.31 2008.03.31 2000.10.05 2012.11.28 137 BGI 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 106596547 926938 BGI_rs926938 4.66e-01 2008.09.17 2009.06.16 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 108541096 926938 CEU.trio.12.15.2008_148157_chr1_115041339 4.66e-01 2008.12.16 2008.12.16 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 111044867 926938 NA19240_2008_12_16_135343_chr1_115041339 4.66e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 122955059 926938 HumanCNV370v1_C_rs926938 4.66e-01 2009.04.15 2009.04.15 2000.10.05 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 138064416 926938 ENSSNP5644321 4.66e-01 2009.05.16 2009.05.16 2000.10.05 2012.11.28 137 ENSEMBL 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 139270186 926938 ENSSNP20430 4.66e-01 2009.05.18 2009.10.16 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 154482883 926938 Human610_Quadv1_B_rs926938-128_T_R_1501883926 4.66e-01 2009.06.20 2009.06.20 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 159657111 926938 Human660W-Quad_v1_A_rs926938-128_T_R_1501883926 4.66e-01 2009.07.07 2009.07.07 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 160970668 926938 HumanOmni1-Quad_v1-0_B_rs926938-128_T_R_1501883926 4.66e-01 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 163942010 926938 NA19240_36_chr1_115041339 4.66e-01 2009.09.29 2009.09.29 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 165070141 926938 NA07022_36_chr1_115041339 4.66e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 167025388 926938 NA20431_36_chr1_115041339 4.66e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 172436526 926938 HumanCNV370-Quadv3_C_rs926938-128_T_R_1501883926 4.66e-01 2009.10.02 2009.10.04 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 174789999 926938 Human1M-Duov3_B_rs926938-128_T_R_1501883926 4.66e-01 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 198961551 926938 BUSHMAN-chr1-115041338 4.66e-01 2010.03.06 2010.03.06 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 205044640 926938 BCM_CMT_1011-3153 4.66e-01 2010.03.15 2010.03.15 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 218609456 926938 pilot_1_YRI_419139_chr1_115041339 4.66e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 230701030 926938 pilot_1_CEU_305659_chr1_115041339 4.66e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 238356392 926938 pilot_1_CHB+JPT_241469_chr1_115041339 4.66e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 244313903 926938 CVDSNP55v1_A_rs926938 4.66e-01 2010.06.10 2010.06.10 2000.10.05 2012.11.28 137 BL 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 253401861 926938 SNP120194_1_115041339 4.66e-01 2010.08.18 2010.08.18 2000.10.05 2012.11.28 137 GMI 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 275986681 926938 GMI_AK_SNP_306844 4.66e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 290603387 926938 SNP_109745_chr1_115041339 4.66e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 481848684 926938 HumanOmni2.5-4v1_B_rs926938-128_T_R_1773393385 4.66e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 481881395 926938 HumanOmniExpress-12v1_C_rs926938-131_T_R_1857569381 4.66e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 482840685 926938 HumanOmni1-Quad_v1-0_C_rs926938-131_T_R_1865444551 4.66e-01 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 270 NC_000001.10:g.115239816A>G;NG_008012.1:g.3361T>C;NM_000036.2:c.-1625T>C;NM_001172626.1:c.-1625T>C 485718774 926938 HumanOmni2.5-4v1_D_rs926938-131_T_R_1857569381 4.66e-01 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 1000GENOMES 270 NC_000001.10:g.115239821C>T;NG_008012.1:g.3356G>A;NM_000036.2:c.-1630G>A;NM_001172626.1:c.-1630G>A 454333854 186517178 20101123_snps_501084_chr1_115239821 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 270 NC_000001.10:g.115240193A>G;NG_008012.1:g.2984T>C;NM_000036.2:c.-2002T>C;NM_001172626.1:c.-2002T>C 454333855 191027520 20101123_snps_501085_chr1_115240193 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 # Report date: 2013.2.9, Gene: AMPD1 (270), ss count: 1425, rs count: 457.