# 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 1945 328952643 144089621 20100804_snps_596179_chr1_155034229 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 1945 341997598 140796036 ESP2500-chr1-155034421 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997601 148865238 ESP2500-chr1-155034425 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 ILLUMINA 1945 NM_003815.3:c.2278-254G>T;NT_004487.19:g.6523109G>T;NM_207191.1:c.2208-254G>T;NT_004487.19:g.6523109G>T;NM_207194.1:c.2353-254G>T;NT_004487.19:g.6523109G>T;NM_207195.1:c.2349+16G>T;NT_004487.19:g.6523109G>T;NM_207196.1:c.2421+16G>T;NT_004487.19:g.6523109G>T;NM_207197.1:c.2424+16G>T;NT_004487.19:g.6523109G>T;XR_108354.1:c.187+1766C>A;NT_004487.19:g.6523109G>T 75012221 12748855 ILMN_Human_1M_rs12748855 2007.08.29 2007.08.29 2004.04.05 2011.09.09 132 ILLUMINA 1945 NM_003815.3:c.2278-254G>T;NT_004487.19:g.6523109G>T;NM_207191.1:c.2208-254G>T;NT_004487.19:g.6523109G>T;NM_207194.1:c.2353-254G>T;NT_004487.19:g.6523109G>T;NM_207195.1:c.2349+16G>T;NT_004487.19:g.6523109G>T;NM_207196.1:c.2421+16G>T;NT_004487.19:g.6523109G>T;NM_207197.1:c.2424+16G>T;NT_004487.19:g.6523109G>T;XR_108354.1:c.187+1766C>A;NT_004487.19:g.6523109G>T 172238549 12748855 Human1M-Duov3_B_rs12748855-128_T_R_1513961618 2009.10.02 2009.10.02 2004.04.05 2011.09.09 132 KRIBB_YJKIM 1945 NM_003815.3:c.2278-254G>T;NT_004487.19:g.6523109G>T;NM_207191.1:c.2208-254G>T;NT_004487.19:g.6523109G>T;NM_207194.1:c.2353-254G>T;NT_004487.19:g.6523109G>T;NM_207195.1:c.2349+16G>T;NT_004487.19:g.6523109G>T;NM_207196.1:c.2421+16G>T;NT_004487.19:g.6523109G>T;NM_207197.1:c.2424+16G>T;NT_004487.19:g.6523109G>T;XR_108354.1:c.187+1766C>A;NT_004487.19:g.6523109G>T 119809569 12748855 KHS1854737 2009.02.05 2009.02.05 2004.04.05 2011.09.09 132 SSAHASNP 1945 NM_003815.3:c.2278-254G>T;NT_004487.19:g.6523109G>T;NM_207191.1:c.2208-254G>T;NT_004487.19:g.6523109G>T;NM_207194.1:c.2353-254G>T;NT_004487.19:g.6523109G>T;NM_207195.1:c.2349+16G>T;NT_004487.19:g.6523109G>T;NM_207196.1:c.2421+16G>T;NT_004487.19:g.6523109G>T;NM_207197.1:c.2424+16G>T;NT_004487.19:g.6523109G>T;XR_108354.1:c.187+1766C>A;NT_004487.19:g.6523109G>T 20555165 12748855 WGSA-200403-chr1.chr1.NT_079484.1_1484299 2004.03.18 2004.03.18 2004.04.05 2011.09.09 132 WI_SSAHASNP 1945 6693783 4845711 NT_021907.13_3478496 2003.02.13 2003.10.10 2003.02.20 2011.07.08 132 1000GENOMES 1945 NM_003815.3:c.2278-89C>G;NT_004487.19:g.6523274C>G;NM_207191.1:c.2208-89C>G;NT_004487.19:g.6523274C>G;NM_207194.1:c.2353-89C>G;NT_004487.19:g.6523274C>G;NM_207195.1:c.2350-89C>G;NT_004487.19:g.6523274C>G;NM_207196.1:c.2422-89C>G;NT_004487.19:g.6523274C>G;NM_207197.1:c.2425-89C>G;NT_004487.19:g.6523274C>G;XR_108354.1:c.187+1601G>C;NT_004487.19:g.6523274C>G 218652800 45444697 pilot_1_YRI_462483_chr1_153301256 1.03e-01 2010.04.22 2010.04.22 2007.05.16 2011.09.09 132 1000GENOMES 1945 NM_003815.3:c.2278-89C>G;NT_004487.19:g.6523274C>G;NM_207191.1:c.2208-89C>G;NT_004487.19:g.6523274C>G;NM_207194.1:c.2353-89C>G;NT_004487.19:g.6523274C>G;NM_207195.1:c.2350-89C>G;NT_004487.19:g.6523274C>G;NM_207196.1:c.2422-89C>G;NT_004487.19:g.6523274C>G;NM_207197.1:c.2425-89C>G;NT_004487.19:g.6523274C>G;XR_108354.1:c.187+1601G>C;NT_004487.19:g.6523274C>G 230733073 45444697 pilot_1_CEU_337702_chr1_153301256 1.03e-01 2010.05.01 2010.05.01 2007.05.16 2011.09.09 132 COMPLETE_GENOMICS 1945 NM_003815.3:c.2278-89C>G;NT_004487.19:g.6523274C>G;NM_207191.1:c.2208-89C>G;NT_004487.19:g.6523274C>G;NM_207194.1:c.2353-89C>G;NT_004487.19:g.6523274C>G;NM_207195.1:c.2350-89C>G;NT_004487.19:g.6523274C>G;NM_207196.1:c.2422-89C>G;NT_004487.19:g.6523274C>G;NM_207197.1:c.2425-89C>G;NT_004487.19:g.6523274C>G;XR_108354.1:c.187+1601G>C;NT_004487.19:g.6523274C>G 165225466 45444697 NA07022_36_chr1_153301256 1.03e-01 2009.09.30 2009.09.30 2007.05.16 2011.09.09 132 PJP 1945 NM_003815.3:c.2278-89C>G;NT_004487.19:g.6523274C>G;NM_207191.1:c.2208-89C>G;NT_004487.19:g.6523274C>G;NM_207194.1:c.2353-89C>G;NT_004487.19:g.6523274C>G;NM_207195.1:c.2350-89C>G;NT_004487.19:g.6523274C>G;NM_207196.1:c.2422-89C>G;NT_004487.19:g.6523274C>G;NM_207197.1:c.2425-89C>G;NT_004487.19:g.6523274C>G;XR_108354.1:c.187+1601G>C;NT_004487.19:g.6523274C>G 290637703 45444697 SNP_144061_chr1_153301256 1.03e-01 2011.01.21 2011.01.21 2007.05.16 2011.09.09 132 SI_EXO 1945 NM_003815.3:c.2278-89C>G;NT_004487.19:g.6523274C>G;NM_207191.1:c.2208-89C>G;NT_004487.19:g.6523274C>G;NM_207194.1:c.2353-89C>G;NT_004487.19:g.6523274C>G;NM_207195.1:c.2350-89C>G;NT_004487.19:g.6523274C>G;NM_207196.1:c.2422-89C>G;NT_004487.19:g.6523274C>G;NM_207197.1:c.2425-89C>G;NT_004487.19:g.6523274C>G;XR_108354.1:c.187+1601G>C;NT_004487.19:g.6523274C>G 71648682 45444697 NT_004487.18_5524987 1.03e-01 2007.05.07 2007.05.07 2007.05.16 2011.09.09 132 1000GENOMES 1945 454391967 183831885 20101123_snps_559197_chr1_155034655 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 1945 NM_003815.3:c.2278-41_2278-40insC;NT_004487.19:g.6523322_6523323insC;NM_207191.1:c.2208-41_2208-40insC;NT_004487.19:g.6523322_6523323insC;NM_207194.1:c.2353-41_2353-40insC;NT_004487.19:g.6523322_6523323insC;NM_207195.1:c.2350-41_2350-40insC;NT_004487.19:g.6523322_6523323insC;NM_207196.1:c.2422-41_2422-40insC;NT_004487.19:g.6523322_6523323insC;NM_207197.1:c.2425-41_2425-40insC;NT_004487.19:g.6523322_6523323insC;XR_108354.1:c.187+1552_187+1553insC;NT_004487.19:g.6523322_6523323insC 193129555 111294050 BUSHMAN-chr1-153301304-153301304 2010.02.16 2010.02.16 2010.07.04 2011.09.09 132 DEVINE_LAB 1945 99314568 71644240 INDEL_GP36_2007a_210346_0 2008.05.04 2008.05.04 2009.02.13 2011.07.08 132 BUSHMAN 1945 NM_003815.3:c.2418T>C;NT_004487.19:g.6523593T>C;NM_207191.1:c.*29T>C;NT_004487.19:g.6523593T>C;NM_207194.1:c.2493T>C;NT_004487.19:g.6523593T>C;NM_207195.1:c.2490T>C;NT_004487.19:g.6523593T>C;NM_207196.1:c.2562T>C;NT_004487.19:g.6523593T>C;NM_207197.1:c.2565T>C;NT_004487.19:g.6523593T>C;XR_108354.1:c.187+1282A>G;NT_004487.19:g.6523593T>C 199090242 113112770 BUSHMAN-chr1-153301574 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 LEE 1945 NM_003815.3:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207191.1:c.*103G>A;NT_004487.19:g.6523667G>A;NM_207194.1:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207195.1:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207196.1:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207197.1:c.*47G>A;NT_004487.19:g.6523667G>A;XR_108354.1:c.187+1208C>T;NT_004487.19:g.6523667G>A 1527829 1051908 475989 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 LEE 1945 NM_003815.3:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207191.1:c.*103G>A;NT_004487.19:g.6523667G>A;NM_207194.1:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207195.1:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207196.1:c.*47G>A;NT_004487.19:g.6523667G>A;NM_207197.1:c.*47G>A;NT_004487.19:g.6523667G>A;XR_108354.1:c.187+1208C>T;NT_004487.19:g.6523667G>A 4417807 1051908 e475989 2002.04.26 2003.10.10 2000.10.05 2011.07.08 132 BUSHMAN 1945 NM_003815.3:c.*54G>A;NT_004487.19:g.6523674G>A;NM_207191.1:c.*110G>A;NT_004487.19:g.6523674G>A;NM_207194.1:c.*54G>A;NT_004487.19:g.6523674G>A;NM_207195.1:c.*54G>A;NT_004487.19:g.6523674G>A;NM_207196.1:c.*54G>A;NT_004487.19:g.6523674G>A;NM_207197.1:c.*54G>A;NT_004487.19:g.6523674G>A;XR_108354.1:c.187+1201C>T;NT_004487.19:g.6523674G>A 199090246 111613143 BUSHMAN-chr1-153301655 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 LEE 1945 NM_003815.3:c.*126G>C;NT_004487.19:g.6523746G>C;NM_207191.1:c.*182G>C;NT_004487.19:g.6523746G>C;NM_207194.1:c.*126G>C;NT_004487.19:g.6523746G>C;NM_207195.1:c.*126G>C;NT_004487.19:g.6523746G>C;NM_207196.1:c.*126G>C;NT_004487.19:g.6523746G>C;NM_207197.1:c.*126G>C;NT_004487.19:g.6523746G>C;XR_108354.1:c.187+1129C>G;NT_004487.19:g.6523746G>C 1527846 1051917 476719 2000.09.13 2003.10.10 2000.10.05 2011.07.08 132 1000GENOMES 1945 NM_003815.3:c.*244T>C;NT_004487.19:g.6523864T>C;NM_207191.1:c.*300T>C;NT_004487.19:g.6523864T>C;NM_207194.1:c.*244T>C;NT_004487.19:g.6523864T>C;NM_207195.1:c.*244T>C;NT_004487.19:g.6523864T>C;NM_207196.1:c.*244T>C;NT_004487.19:g.6523864T>C;NM_207197.1:c.*244T>C;NT_004487.19:g.6523864T>C;XR_108354.1:c.187+1011A>G;NT_004487.19:g.6523864T>C 218652801 115065045 pilot_1_YRI_462484_chr1_153301846 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 ILLUMINA 1945 NM_003815.3:c.*272T>C;NT_004487.19:g.6523892T>C;NM_207191.1:c.*328T>C;NT_004487.19:g.6523892T>C;NM_207194.1:c.*272T>C;NT_004487.19:g.6523892T>C;NM_207195.1:c.*272T>C;NT_004487.19:g.6523892T>C;NM_207196.1:c.*272T>C;NT_004487.19:g.6523892T>C;NM_207197.1:c.*272T>C;NT_004487.19:g.6523892T>C;XR_108354.1:c.187+983A>G;NT_004487.19:g.6523892T>C 169011912 111355590 Human1M-Duov3_B_GA019473-0_B_F_1533449264 2009.10.01 2009.10.01 2010.07.04 2011.07.08 132 1000GENOMES 1945 454391968 186667421 20101123_snps_559198_chr1_155035262 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 328952644 138754969 20100804_snps_596180_chr1_155035451 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 CSHL-HAPMAP 1945 XR_108354.1:c.187+631G>A;NT_004487.19:g.6524244C>T 19839010 12563388 CSHL-HuFF-200402.chr1.NT_079484.1_1485434 2004.02.21 2004.03.04 2004.02.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+631G>A;NT_004487.19:g.6524244C>T 160282715 12563388 HumanOmni1-Quad_v1-0_B_rs12563388-128_T_R_1577040536 2009.08.06 2009.10.02 2004.02.28 2011.09.09 132 SSAHASNP 1945 XR_108354.1:c.187+631G>A;NT_004487.19:g.6524244C>T 20587946 12563388 WGSA-200403-chr1.chr1.NT_079484.1_1485434 2004.03.18 2004.03.18 2004.02.28 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 111158846 3806256 NA19240_2008_12_16_149254_chr1_153302235 4.22e-01 2008.12.17 2008.12.17 2002.08.28 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 210463465 3806256 CEU.trio.3.2010_7279_chr1_153302235 4.22e-01 2010.03.29 2010.03.29 2002.08.28 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 218652802 3806256 pilot_1_YRI_462485_chr1_153302235 4.22e-01 2010.04.22 2010.04.22 2002.08.28 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 230733074 3806256 pilot_1_CEU_337703_chr1_153302235 4.22e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 238380671 3806256 pilot_1_CHB+JPT_265748_chr1_153302235 4.22e-01 2010.05.01 2010.05.01 2002.08.28 2011.09.09 132 ABI 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 44092455 3806256 hCV1635147 4.22e-01 2005.07.18 2006.11.03 2002.08.28 2011.09.09 132 BCM-HGSC-SUB 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 205317985 3806256 BCM_CMT_1011-138411 4.22e-01 2010.03.15 2010.03.15 2002.08.28 2011.09.09 132 BCMHGSC_JDW 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 87825715 3806256 JWB-0128609 4.22e-01 2008.02.26 2008.02.26 2002.08.28 2011.09.09 132 BGI 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 102785897 3806256 BGI_rs3806256 4.22e-01 2008.06.04 2009.06.16 2002.08.28 2011.09.09 132 BL 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 253511748 3806256 SNP142585_1_153302235 4.22e-01 2010.08.18 2010.08.18 2002.08.28 2011.09.09 132 BUSHMAN 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 199090250 3806256 BUSHMAN-chr1-153302234 4.22e-01 2010.03.06 2010.03.06 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 165225485 3806256 NA07022_36_chr1_153302235 4.22e-01 2009.09.30 2009.09.30 2002.08.28 2011.09.09 132 COMPLETE_GENOMICS 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 167137692 3806256 NA20431_36_chr1_153302235 4.22e-01 2009.09.30 2009.09.30 2002.08.28 2011.09.09 132 CSHL-HAPMAP 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 19108232 3806256 CSHL-HuDD-200402.chr1.NT_079484.1_1485443 4.22e-01 2004.02.20 2004.03.04 2002.08.28 2011.09.09 132 CSHL-HAPMAP 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 19839012 3806256 CSHL-HuFF-200402.chr1.NT_079484.1_1485443 4.22e-01 2004.02.21 2004.03.04 2002.08.28 2011.09.09 132 ENSEMBL 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 138083846 3806256 ENSSNP6645060 4.22e-01 2009.05.16 2009.05.16 2002.08.28 2011.09.09 132 ENSEMBL 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 161176376 3806256 ENSSNP67548 4.22e-01 2009.09.24 2009.09.24 2002.08.28 2011.09.09 132 GMI 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 155756716 3806256 GMI_SNP_71779969 4.22e-01 2009.06.24 2009.06.24 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 66585591 3806256 HumanHap300v1.1_rs3806256 4.22e-01 2006.11.09 2006.11.09 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 67305056 3806256 HumanHap550v1.1_rs3806256 4.22e-01 2006.11.14 2006.11.14 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 67710170 3806256 HumanHap650Yv1.0_rs3806256 4.22e-01 2006.11.14 2006.11.14 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 70783709 3806256 HumanHap550v3.0__rs3806256 4.22e-01 2007.04.20 2008.03.30 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 71360360 3806256 HumanHap650Yv3.0_rs3806256 4.22e-01 2007.04.23 2007.04.23 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 74937427 3806256 ILMN_Human_1M_rs3806256 4.22e-01 2007.08.29 2007.08.29 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 79168656 3806256 HumanHap300v2.0_rs3806256 4.22e-01 2007.11.18 2007.11.18 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 122231209 3806256 HumanCNV370v1_C_rs3806256 4.22e-01 2009.04.15 2009.04.15 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 154271350 3806256 Human610_Quadv1_B_rs3806256-128_T_R_1501764541 4.22e-01 2009.06.20 2009.06.20 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 159448083 3806256 Human660W-Quad_v1_A_rs3806256-128_T_R_1501764541 4.22e-01 2009.07.07 2009.07.07 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 160644883 3806256 HumanOmni1-Quad_v1-0_B_rs3806256-128_T_R_1501764541 4.22e-01 2009.08.06 2009.10.04 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 171670252 3806256 HumanCNV370-Quadv3_C_rs3806256-128_T_R_1501764541 4.22e-01 2009.10.01 2009.10.04 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 173647180 3806256 Human1M-Duov3_B_rs3806256-128_T_R_1501764541 4.22e-01 2009.10.04 2009.10.04 2002.08.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 244297503 3806256 CVDSNP55v1_A_rs3806256 4.22e-01 2010.06.10 2010.06.10 2002.08.28 2011.09.09 132 KRIBB_YJKIM 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 84192046 3806256 KHS654580 4.22e-01 2007.12.06 2007.12.06 2002.08.28 2011.09.09 132 PERLEGEN 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 68780667 3806256 PGP13301474 4.22e-01 2007.01.30 2008.03.31 2002.08.28 2011.09.09 132 PJP 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 290637704 3806256 SNP_144062_chr1_153302235 4.22e-01 2011.01.21 2011.01.21 2002.08.28 2011.09.09 132 YUSUKE 1945 XR_108354.1:c.187+622G>A;NT_004487.19:g.6524253C>T 4992649 3806256 IMS-JST165508 4.22e-01 2002.08.12 2003.11.22 2002.08.28 2011.09.09 132 1000GENOMES 1945 454391969 192591534 20101123_snps_559199_chr1_155035701 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 CSHL-HAPMAP 1945 XR_108354.1:c.187+502G>A;NT_004487.19:g.6524373C>T 19839064 12563403 CSHL-HuFF-200402.chr1.NT_079484.1_1485563 2004.02.21 2004.03.04 2004.02.28 2011.09.09 132 ENSEMBL 1945 XR_108354.1:c.187+502G>A;NT_004487.19:g.6524373C>T 161176377 12563403 ENSSNP67549 2009.09.24 2009.09.24 2004.02.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+502G>A;NT_004487.19:g.6524373C>T 74972836 12563403 ILMN_Human_1M_rs12563403 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 1945 XR_108354.1:c.187+502G>A;NT_004487.19:g.6524373C>T 172157615 12563403 Human1M-Duov3_B_rs12563403-128_T_R_1513924581 2009.10.02 2009.10.02 2004.02.28 2011.09.09 132 KRIBB_YJKIM 1945 XR_108354.1:c.187+502G>A;NT_004487.19:g.6524373C>T 119793595 12563403 KHS1848328 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 SSAHASNP 1945 XR_108354.1:c.187+502G>A;NT_004487.19:g.6524373C>T 20588828 12563403 WGSA-200403-chr1.chr1.NT_079484.1_1485563 2004.03.18 2004.03.18 2004.02.28 2011.09.09 132 ENSEMBL 1945 XR_108354.1:c.187+477G>A;NT_004487.19:g.6524398C>T 161176379 78785291 ENSSNP67550 2009.09.24 2009.09.24 2009.12.01 2011.07.08 132 1000GENOMES 1945 328952645 141889239 20100804_snps_596181_chr1_155035838 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+248T>C;NT_004487.19:g.6524627A>G 218652803 114319959 pilot_1_YRI_462486_chr1_153302609 2.74e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 1945 454391970 185807326 20101123_snps_559200_chr1_155036030 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 326118476 148834192 YRI_chr1_153302656_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+151G>C;NT_004487.19:g.6524724C>G 328952646 113930398 20100804_snps_596182_chr1_155036082 4.57e-04 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 BUSHMAN 1945 XR_108354.1:c.187+151G>C;NT_004487.19:g.6524724C>G 199090254 113930398 BUSHMAN-chr1-153302705 4.57e-04 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 1945 328952647 140005810 20100804_snps_596183_chr1_155036121 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 XR_108354.1:c.187+94T>A;NT_004487.19:g.6524781A>T 218652804 114857607 pilot_1_YRI_462487_chr1_153302763 2.74e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182689.1:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182690.2:c.-71G>A;NT_004487.19:g.6524871G>A;XR_108354.1:c.187+4C>T;NT_004487.19:g.6524871G>A 74964997 1002230 ILMN_Human_1M_rs1002230 2007.08.29 2007.08.29 2000.10.05 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182689.1:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182690.2:c.-71G>A;NT_004487.19:g.6524871G>A;XR_108354.1:c.187+4C>T;NT_004487.19:g.6524871G>A 159852835 1002230 HumanOmni1-Quad_v1-0_B_rs1002230-128_T_F_1513915473 2009.08.04 2009.10.01 2000.10.05 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182689.1:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182690.2:c.-71G>A;NT_004487.19:g.6524871G>A;XR_108354.1:c.187+4C>T;NT_004487.19:g.6524871G>A 169524424 1002230 Human1M-Duov3_B_rs1002230-128_T_F_1513915473 2009.10.01 2009.10.01 2000.10.05 2011.09.09 132 KRIBB_YJKIM 1945 NM_005227.2:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182689.1:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182690.2:c.-71G>A;NT_004487.19:g.6524871G>A;XR_108354.1:c.187+4C>T;NT_004487.19:g.6524871G>A 119377556 1002230 KHS1539803 2009.02.04 2009.02.04 2000.10.05 2011.09.09 132 TSC-CSHL 1945 NM_005227.2:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182689.1:c.-71G>A;NT_004487.19:g.6524871G>A;NM_182690.2:c.-71G>A;NT_004487.19:g.6524871G>A;XR_108354.1:c.187+4C>T;NT_004487.19:g.6524871G>A 1462837 1002230 TSC0036720 2000.09.07 2004.04.07 2000.10.05 2011.09.09 132 SSAHASNP 1945 NM_005227.2:c.33C>A;NT_004487.19:g.6524974C>A;NM_182689.1:c.33C>A;NT_004487.19:g.6524974C>A;NM_182690.2:c.33C>A;NT_004487.19:g.6524974C>A;XR_108354.1:c.88G>T;NT_004487.19:g.6524974C>A 20611717 12760718 WGSA-200403-chr1.chr1.NT_079484.1_1486164 2004.03.18 2004.03.18 2004.04.05 2011.07.08 132 BUSHMAN 1945 NM_005227.2:c.42G>A;NT_004487.19:g.6524983G>A;NM_182689.1:c.42G>A;NT_004487.19:g.6524983G>A;NM_182690.2:c.42G>A;NT_004487.19:g.6524983G>A;XR_108354.1:c.79C>T;NT_004487.19:g.6524983G>A 199090257 111269205 BUSHMAN-chr1-153302964 2010.03.06 2010.03.06 2010.07.04 2011.07.08 132 BCMHGSC_JDW 1945 NM_005227.2:c.113+6C>T;NT_004487.19:g.6525060C>T;NM_182689.1:c.113+6C>T;NT_004487.19:g.6525060C>T;NM_182690.2:c.113+6C>T;NT_004487.19:g.6525060C>T;XR_108354.1:c.2G>A;NT_004487.19:g.6525060C>T 87825716 61811914 JWB-2743858 2008.02.26 2008.02.26 2008.03.24 2011.09.09 132 ENSEMBL 1945 NM_005227.2:c.113+6C>T;NT_004487.19:g.6525060C>T;NM_182689.1:c.113+6C>T;NT_004487.19:g.6525060C>T;NM_182690.2:c.113+6C>T;NT_004487.19:g.6525060C>T;XR_108354.1:c.2G>A;NT_004487.19:g.6525060C>T 138083847 61811914 ENSSNP6045909 2009.05.16 2009.05.16 2008.03.24 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.113+25G>A;NT_004487.19:g.6525079G>A;NM_182689.1:c.113+25G>A;NT_004487.19:g.6525079G>A;NM_182690.2:c.113+25G>A;NT_004487.19:g.6525079G>A 210642341 115929779 YRI.trio.3.2010_65980_chr1_153303061 8.68e-03 2010.03.29 2010.03.29 2010.07.14 2011.10.06 132 1000GENOMES 1945 NM_005227.2:c.113+25G>A;NT_004487.19:g.6525079G>A;NM_182689.1:c.113+25G>A;NT_004487.19:g.6525079G>A;NM_182690.2:c.113+25G>A;NT_004487.19:g.6525079G>A 328952648 115929779 20100804_snps_596184_chr1_155036437 8.68e-03 2011.03.22 2011.03.22 2010.07.14 2011.10.06 132 1000GENOMES 1945 NM_005227.2:c.113+248G>C;NT_004487.19:g.6525302G>C;NM_182689.1:c.113+248G>C;NT_004487.19:g.6525302G>C;NM_182690.2:c.113+248G>C;NT_004487.19:g.6525302G>C 218652805 115212960 pilot_1_YRI_462488_chr1_153303284 3.43e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 BCM-HGSC-SUB 1945 NM_005227.2:c.113+286C>T;NT_004487.19:g.6525340C>T;NM_182689.1:c.113+286C>T;NT_004487.19:g.6525340C>T;NM_182690.2:c.113+286C>T;NT_004487.19:g.6525340C>T 205544329 111769866 BCM_CMT_1011-251152 2010.03.16 2010.03.16 2010.07.04 2011.07.08 132 1000GENOMES 1945 NM_005227.2:c.113+478C>T;NT_004487.19:g.6525532C>T;NM_182689.1:c.113+478C>T;NT_004487.19:g.6525532C>T;NM_182690.2:c.113+478C>T;NT_004487.19:g.6525532C>T 218652806 114623478 pilot_1_YRI_462489_chr1_153303514 2.74e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 1945 328952650 139330543 20100804_snps_596186_chr1_155036929 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ENSEMBL 1945 NM_005227.2:c.113+694C>A;NT_004487.19:g.6525748C>A;NM_182689.1:c.113+694C>A;NT_004487.19:g.6525748C>A;NM_182690.2:c.113+694C>A;NT_004487.19:g.6525748C>A 161176381 74436653 ENSSNP67551 2009.09.24 2009.09.24 2009.12.01 2011.07.08 132 1000GENOMES 1945 454391971 190314061 20101123_snps_559201_chr1_155037153 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 HUMANGENOME_JCVI 1945 NM_005227.2:c.113+968G>A;NT_004487.19:g.6526022G>A;NM_182689.1:c.113+968G>A;NT_004487.19:g.6526022G>A;NM_182690.2:c.113+968G>A;NT_004487.19:g.6526022G>A 99251379 71628641 1103675229563 2008.04.03 2008.04.03 2009.02.13 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.113+1152C>T;NT_004487.19:g.6526206C>T;NM_182689.1:c.113+1152C>T;NT_004487.19:g.6526206C>T;NM_182690.2:c.113+1152C>T;NT_004487.19:g.6526206C>T 230733076 76992047 pilot_1_CEU_337705_chr1_153304188 3.66e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 1945 NM_005227.2:c.113+1257C>A;NT_004487.19:g.6526311C>A;NM_182689.1:c.113+1257C>A;NT_004487.19:g.6526311C>A;NM_182690.2:c.113+1257C>A;NT_004487.19:g.6526311C>A 230733077 114973352 pilot_1_CEU_337706_chr1_153304293 1.46e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 1945 328952651 150033027 20100804_snps_596187_chr1_155037729 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 454391972 182136081 20101123_snps_559202_chr1_155037763 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 SC_JCM 1945 NM_005227.2:c.114-1296C>T;NT_004487.19:g.6526552C>T;NM_182689.1:c.114-1296C>T;NT_004487.19:g.6526552C>T;NM_182690.2:c.114-1296C>T;NT_004487.19:g.6526552C>T 5951168 4439409 NT_034428.1_123377 2003.01.11 2003.10.10 2003.02.20 2011.07.08 132 1000GENOMES 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 108601821 1564124 CEU.trio.12.15.2008_162935_chr1_153304620 4.63e-01 2008.12.16 2008.12.16 2000.10.23 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 218652807 1564124 pilot_1_YRI_462490_chr1_153304620 4.63e-01 2010.04.22 2010.04.22 2000.10.23 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 230733078 1564124 pilot_1_CEU_337707_chr1_153304620 4.63e-01 2010.05.01 2010.05.01 2000.10.23 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 238380672 1564124 pilot_1_CHB+JPT_265749_chr1_153304620 4.63e-01 2010.05.01 2010.05.01 2000.10.23 2011.09.09 132 ABI 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 41179228 1564124 hCV1635148 4.63e-01 2005.07.17 2005.07.17 2000.10.23 2011.09.09 132 BCM-HGSC-SUB 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 205210585 1564124 BCM_CMT_1011-85035 4.63e-01 2010.03.15 2010.03.15 2000.10.23 2011.09.09 132 BCMHGSC_JDW 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 87825718 1564124 JWB-0128610 4.63e-01 2008.02.26 2008.02.26 2000.10.23 2011.09.09 132 BGI 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 102785898 1564124 BGI_rs1564124 4.63e-01 2008.06.04 2009.06.16 2000.10.23 2011.09.09 132 BL 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 253511754 1564124 SNP142586_1_153304620 4.63e-01 2010.08.18 2010.08.18 2000.10.23 2011.09.09 132 BUSHMAN 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 199090261 1564124 BUSHMAN-chr1-153304619 4.63e-01 2010.03.06 2010.03.06 2000.10.23 2011.09.09 132 COMPLETE_GENOMICS 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 164126450 1564124 NA19240_36_chr1_153304620 4.63e-01 2009.09.29 2009.09.29 2000.10.23 2011.09.09 132 COMPLETE_GENOMICS 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 167137696 1564124 NA20431_36_chr1_153304620 4.63e-01 2009.09.30 2009.09.30 2000.10.23 2011.09.09 132 CSHL-HAPMAP 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 19842354 1564124 CSHL-HuFF-200402.chr1.NT_079484.1_1487828 4.63e-01 2004.02.21 2004.03.04 2000.10.23 2011.09.09 132 ENSEMBL 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 131695904 1564124 ENSSNP67552 4.63e-01 2009.05.11 2009.10.14 2000.10.23 2011.09.09 132 HUMANGENOME_JCVI 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 99251380 1564124 1103675229561 4.63e-01 2008.04.03 2008.04.03 2000.10.23 2011.09.09 132 PJP 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 290637705 1564124 SNP_144063_chr1_153304620 4.63e-01 2011.01.21 2011.01.21 2000.10.23 2011.09.09 132 SC_JCM 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 5851162 1564124 NT_004858.12_1167198 4.63e-01 2003.01.11 2003.10.10 2000.10.23 2011.09.09 132 SSAHASNP 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 20459151 1564124 WGSA-200403-chr1.chr1.NT_079484.1_1487828 4.63e-01 2004.03.18 2004.03.18 2000.10.23 2011.09.09 132 TSC-CSHL 1945 NM_005227.2:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182689.1:c.114-1210C>T;NT_004487.19:g.6526638C>T;NM_182690.2:c.114-1210C>T;NT_004487.19:g.6526638C>T 2408009 1564124 TSC0455036 4.63e-01 2000.10.20 2003.10.10 2000.10.23 2011.09.09 132 DEVINE_LAB 1945 NM_005227.2:c.114-1203_114-1202insT;NT_004487.19:g.6526645_6526646insT;NM_182689.1:c.114-1203_114-1202insT;NT_004487.19:g.6526645_6526646insT;NM_182690.2:c.114-1203_114-1202insT;NT_004487.19:g.6526645_6526646insT 100750927 72014171 INDEL_GP36_2008a_1605895_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 132 HUMANGENOME_JCVI 1945 NM_005227.2:c.114-1185_114-1184insT;NT_004487.19:g.6526663_6526664insT;NM_182689.1:c.114-1185_114-1184insT;NT_004487.19:g.6526663_6526664insT;NM_182690.2:c.114-1185_114-1184insT;NT_004487.19:g.6526663_6526664insT 98576949 71586050 1103675229562 2008.04.01 2008.04.01 2009.02.13 2011.09.09 132 1000GENOMES 1945 328952652 147728291 20100804_snps_596188_chr1_155038093 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 454391973 185144983 20101123_snps_559203_chr1_155038124 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 326090164 149262026 CEU_chr1_153304800_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 1000GENOMES 1945 326118480 149262026 YRI_chr1_153304800_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 DEVINE_LAB 1945 99600728 71746140 INDEL_GP36_2007a_926576_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 DEVINE_LAB 1945 NM_005227.2:c.114-1019_114-1016del4;NT_004487.19:g.6526829_6526832del4;NM_182689.1:c.114-1019_114-1016del4;NT_004487.19:g.6526829_6526832del4;NM_182690.2:c.114-1019_114-1016del4;NT_004487.19:g.6526829_6526832del4 99458304 71693962 INDEL_GP36_2007a_907551_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 DEVINE_LAB 1945 NM_005227.2:c.114-1011_114-1008del4;NT_004487.19:g.6526837_6526840del4;NM_182689.1:c.114-1011_114-1008del4;NT_004487.19:g.6526837_6526840del4;NM_182690.2:c.114-1011_114-1008del4;NT_004487.19:g.6526837_6526840del4 99342609 71659656 INDEL_GP36_2007a_926577_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 BL 1945 253511759 143043891 SNP142587_1_153304836 2010.08.18 2010.08.18 2011.05.09 2011.07.08 132 DEVINE_LAB 1945 NM_005227.2:c.114-994_114-987del8;NT_004487.19:g.6526854_6526861del8;NM_182689.1:c.114-994_114-987del8;NT_004487.19:g.6526854_6526861del8;NM_182690.2:c.114-994_114-987del8;NT_004487.19:g.6526854_6526861del8 99403899 71679788 INDEL_GP36_2007a_907552_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 132 HUMANGENOME_JCVI 1945 98576950 71586051 1103675229560 2008.04.01 2008.04.01 2009.02.13 2011.09.09 132 BL 1945 253511764 148421055 SNP142588_1_153304839 2010.08.18 2010.08.18 2011.05.09 2011.07.08 132 HUMANGENOME_JCVI 1945 95243485 71077977 1104685105511 2008.03.21 2008.12.02 2009.02.13 2011.07.08 132 1000GENOMES 1945 328952654 144898470 20100804_snps_596190_chr1_155038370 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 454391974 189845981 20101123_snps_559204_chr1_155038583 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ABI 1945 NM_005227.2:c.114-588_114-587insA;NT_004487.19:g.6527260_6527261insA;NM_182689.1:c.114-588_114-587insA;NT_004487.19:g.6527260_6527261insA;NM_182690.2:c.114-588_114-587insA;NT_004487.19:g.6527260_6527261insA 41329477 35113993 hCV32514580 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 1945 NM_005227.2:c.114-500C>T;NT_004487.19:g.6527348C>T;NM_182689.1:c.114-500C>T;NT_004487.19:g.6527348C>T;NM_182690.2:c.114-500C>T;NT_004487.19:g.6527348C>T 218652810 115350188 pilot_1_YRI_462493_chr1_153305330 4.57e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 1945 454391975 181052792 20101123_snps_559205_chr1_155038747 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 108601826 4045192 CEU.trio.12.15.2008_162936_chr1_153305380 4.60e-01 2008.12.16 2008.12.16 2002.10.10 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 111158853 4045192 NA19240_2008_12_16_149255_chr1_153305380 4.60e-01 2008.12.17 2008.12.17 2002.10.10 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 218652811 4045192 pilot_1_YRI_462494_chr1_153305380 4.60e-01 2010.04.22 2010.04.22 2002.10.10 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 230733080 4045192 pilot_1_CEU_337709_chr1_153305380 4.60e-01 2010.05.01 2010.05.01 2002.10.10 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 238380673 4045192 pilot_1_CHB+JPT_265750_chr1_153305380 4.60e-01 2010.05.01 2010.05.01 2002.10.10 2011.09.09 132 ABI 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 44014511 4045192 hCV1635150 4.60e-01 2005.07.18 2006.11.03 2002.10.10 2011.09.09 132 BCM-HGSC-SUB 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 205140485 4045192 BCM_CMT_1011-50111 4.60e-01 2010.03.15 2010.03.15 2002.10.10 2011.09.09 132 BCMHGSC_JDW 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 87825721 4045192 JWB-0128611 4.60e-01 2008.02.26 2008.02.26 2002.10.10 2011.09.09 132 BGI 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 102785899 4045192 BGI_rs4045192 4.60e-01 2008.06.04 2009.06.16 2002.10.10 2011.09.09 132 BL 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 253511769 4045192 SNP142589_1_153305380 4.60e-01 2010.08.18 2010.08.18 2002.10.10 2011.09.09 132 BUSHMAN 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 199090265 4045192 BUSHMAN-chr1-153305379 4.60e-01 2010.03.06 2010.03.06 2002.10.10 2011.09.09 132 COMPLETE_GENOMICS 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 164126462 4045192 NA19240_36_chr1_153305380 4.60e-01 2009.09.29 2009.09.29 2002.10.10 2011.09.09 132 COMPLETE_GENOMICS 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 167137708 4045192 NA20431_36_chr1_153305380 4.60e-01 2009.09.30 2009.09.30 2002.10.10 2011.09.09 132 CSHL-HAPMAP 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 19153533 4045192 CSHL-HuDD-200402.chr1.NT_079484.1_1488588 4.60e-01 2004.02.20 2004.10.30 2002.10.10 2011.09.09 132 ENSEMBL 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 138083848 4045192 ENSSNP11634677 4.60e-01 2009.05.16 2009.05.16 2002.10.10 2011.09.09 132 ENSEMBL 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 139209832 4045192 ENSSNP67553 4.60e-01 2009.05.18 2009.10.16 2002.10.10 2011.09.09 132 GMI 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 155756722 4045192 GMI_SNP_36492161 4.60e-01 2009.06.24 2009.06.24 2002.10.10 2011.09.09 132 HGSV 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 82348665 4045192 Cor18555_SNV_20070510.chr1_151851829 4.60e-01 2007.12.02 2007.12.02 2002.10.10 2011.09.09 132 HGSV 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 82666772 4045192 Cor18956_SNV_20070510.chr1_151851829 4.60e-01 2007.12.03 2007.12.03 2002.10.10 2011.09.09 132 HUMANGENOME_JCVI 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 99251381 4045192 1103675229579 4.60e-01 2008.04.03 2008.04.03 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 66682516 4045192 HumanHap300v1.1_rs4045192 4.60e-01 2006.11.09 2006.11.09 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 67313250 4045192 HumanHap550v1.1_rs4045192 4.60e-01 2006.11.14 2006.11.14 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 67719315 4045192 HumanHap650Yv1.0_rs4045192 4.60e-01 2006.11.14 2006.11.14 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 70791879 4045192 HumanHap550v3.0__rs4045192 4.60e-01 2007.04.20 2008.03.30 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 71369475 4045192 HumanHap650Yv3.0_rs4045192 4.60e-01 2007.04.23 2007.04.23 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 75609477 4045192 ILMN_Human_1M_rs4045192 4.60e-01 2007.08.29 2007.08.29 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 79174142 4045192 HumanHap300v2.0_rs4045192 4.60e-01 2007.11.18 2007.11.18 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 122263754 4045192 HumanCNV370v1_C_rs4045192 4.60e-01 2009.04.15 2009.04.15 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 154280294 4045192 Human610_Quadv1_B_rs4045192-128_B_R_1501795700 4.60e-01 2009.06.20 2009.06.20 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 159457061 4045192 Human660W-Quad_v1_A_rs4045192-128_B_R_1501795700 4.60e-01 2009.07.07 2009.07.07 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 160658428 4045192 HumanOmni1-Quad_v1-0_B_rs4045192-128_B_R_1501795700 4.60e-01 2009.08.06 2009.10.04 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 171727617 4045192 HumanCNV370-Quadv3_C_rs4045192-128_B_R_1501795700 4.60e-01 2009.10.01 2009.10.04 2002.10.10 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 173681273 4045192 Human1M-Duov3_B_rs4045192-128_B_R_1501795700 4.60e-01 2009.10.04 2009.10.04 2002.10.10 2011.09.09 132 KRIBB_YJKIM 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 84221736 4045192 KHS661375 4.60e-01 2007.12.06 2007.12.06 2002.10.10 2011.09.09 132 PJP 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 290637706 4045192 SNP_144064_chr1_153305380 4.60e-01 2011.01.21 2011.01.21 2002.10.10 2011.09.09 132 SC_SNP 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 16044591 4045192 NT_079484.1_1488588 4.60e-01 2003.11.18 2003.11.22 2002.10.10 2011.09.09 132 SSAHASNP 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 20597422 4045192 WGSA-200403-chr1.chr1.NT_079484.1_1488588 4.60e-01 2004.03.18 2004.03.18 2002.10.10 2011.09.09 132 TSC-CSHL 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 5405755 4045192 TSC1424813 4.60e-01 2002.09.21 2003.10.10 2002.10.10 2011.09.09 132 WI_SSAHASNP 1945 NM_005227.2:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182689.1:c.114-450T>C;NT_004487.19:g.6527398T>C;NM_182690.2:c.114-450T>C;NT_004487.19:g.6527398T>C 6693784 4045192 NT_021907.13_3482623 4.60e-01 2003.02.13 2003.10.10 2002.10.10 2011.09.09 132 1000GENOMES 1945 454391976 185138849 20101123_snps_559206_chr1_155038961 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 454391977 189599665 20101123_snps_559207_chr1_155038992 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 454391978 180760187 20101123_snps_559208_chr1_155039082 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 326118482 140490936 YRI_chr1_153305755_indel 2011.03.11 2011.04.01 2011.05.09 2011.09.09 132 BUSHMAN 1945 NM_005227.2:c.114-71delG;NT_004487.19:g.6527777delG;NM_182689.1:c.114-71delG;NT_004487.19:g.6527777delG;NM_182690.2:c.114-71delG;NT_004487.19:g.6527777delG 193129557 112776418 BUSHMAN-chr1-153305758-153305759 2010.02.16 2010.02.16 2010.07.04 2011.07.08 132 NHLBI-ESP 1945 341997602 146980401 ESP2500-chr1-155039224 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997604 142249822 ESP2500-chr1-155039225 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997606 148289726 ESP2500-chr1-155039270 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997609 138277393 ESP2500-chr1-155039321 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997610 142999275 ESP2500-chr1-155039367 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997613 143886639 ESP2500-chr1-155039441 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 1000GENOMES 1945 NM_005227.2:c.372C>T;NT_004487.19:g.6528106C>T;NM_182689.1:c.372C>T;NT_004487.19:g.6528106C>T;NM_182690.2:c.372C>T;NT_004487.19:g.6528106C>T 217317117 114301457 pilot_3_CEU_188_chr1_153306088 2.29e-03 2010.04.09 2010.04.09 2010.07.14 2011.10.06 132 1000GENOMES 1945 NM_005227.2:c.372C>T;NT_004487.19:g.6528106C>T;NM_182689.1:c.372C>T;NT_004487.19:g.6528106C>T;NM_182690.2:c.372C>T;NT_004487.19:g.6528106C>T 454391979 114301457 20101123_snps_559209_chr1_155039464 2.29e-03 2011.07.20 2011.07.20 2010.07.14 2011.10.06 132 NHLBI-ESP 1945 NM_005227.2:c.372C>T;NT_004487.19:g.6528106C>T;NM_182689.1:c.372C>T;NT_004487.19:g.6528106C>T;NM_182690.2:c.372C>T;NT_004487.19:g.6528106C>T 341997614 114301457 ESP2500-chr1-155039464 2.29e-03 2011.03.25 2011.03.25 2010.07.14 2011.10.06 132 1000GENOMES 1945 328952655 147961184 20100804_snps_596191_chr1_155039566 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 328952656 148813565 20100804_snps_596192_chr1_155039596 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 328952657 143447984 20100804_snps_596193_chr1_155039738 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 1945 341997617 151179474 ESP2500-chr1-155039849 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 SI_EXO 1945 NM_005227.2:c.408C>T;NT_004487.19:g.6528497C>T;NM_182689.1:c.408C>T;NT_004487.19:g.6528497C>T;NM_182690.2:c.408C>T;NT_004487.19:g.6528497C>T 52052973 41264287 NT_004487.17_5530210 2006.03.29 2006.03.29 2006.10.18 2011.07.08 132 NHLBI-ESP 1945 341997618 141223577 ESP2500-chr1-155039880 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997621 142288768 ESP2500-chr1-155039885 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 ABI 1945 NM_005227.2:c.469+132_469+133insC;NT_004487.19:g.6528690_6528691insC;NM_182689.1:c.469+132_469+133insC;NT_004487.19:g.6528690_6528691insC;NM_182690.2:c.469+132_469+133insC;NT_004487.19:g.6528690_6528691insC 41201716 34854348 hCV32514579 2005.07.17 2005.07.17 2006.03.14 2011.07.08 132 1000GENOMES 1945 454391980 191959511 20101123_snps_559210_chr1_155040140 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 NM_005227.2:c.469+653A>T;NT_004487.19:g.6529211A>T;NM_182689.1:c.469+653A>T;NT_004487.19:g.6529211A>T;NM_182690.2:c.469+653A>T;NT_004487.19:g.6529211A>T 218652812 114785244 pilot_1_YRI_462495_chr1_153307193 1.83e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.470-675C>T;NT_004487.19:g.6529296C>T;NM_182689.1:c.469+738C>T;NT_004487.19:g.6529296C>T;NM_182690.2:c.469+738C>T;NT_004487.19:g.6529296C>T 328952658 6675468 20100804_snps_596194_chr1_155040654 6.95e-02 2011.03.22 2011.03.22 2003.07.11 2011.09.09 132 BCMHGSC_JDW 1945 NM_005227.2:c.470-675C>T;NT_004487.19:g.6529296C>T;NM_182689.1:c.469+738C>T;NT_004487.19:g.6529296C>T;NM_182690.2:c.469+738C>T;NT_004487.19:g.6529296C>T 87825723 6675468 JWB-0128612 6.95e-02 2008.02.26 2008.02.26 2003.07.11 2011.09.09 132 BCM_SSAHASNP 1945 NM_005227.2:c.470-675C>T;NT_004487.19:g.6529296C>T;NM_182689.1:c.469+738C>T;NT_004487.19:g.6529296C>T;NM_182690.2:c.469+738C>T;NT_004487.19:g.6529296C>T 9847204 6675468 chr1.NT_004668.15_1490486 6.95e-02 2003.06.28 2003.10.10 2003.07.11 2011.09.09 132 BL 1945 NM_005227.2:c.470-675C>T;NT_004487.19:g.6529296C>T;NM_182689.1:c.469+738C>T;NT_004487.19:g.6529296C>T;NM_182690.2:c.469+738C>T;NT_004487.19:g.6529296C>T 253511774 6675468 SNP142590_1_153307278 6.95e-02 2010.08.18 2010.08.18 2003.07.11 2011.09.09 132 COMPLETE_GENOMICS 1945 NM_005227.2:c.470-675C>T;NT_004487.19:g.6529296C>T;NM_182689.1:c.469+738C>T;NT_004487.19:g.6529296C>T;NM_182690.2:c.469+738C>T;NT_004487.19:g.6529296C>T 164126473 6675468 NA19240_36_chr1_153307278 6.95e-02 2009.09.29 2009.09.29 2003.07.11 2011.09.09 132 1000GENOMES 1945 454391981 183693043 20101123_snps_559211_chr1_155040655 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 NM_005227.2:c.470-646A>G;NT_004487.19:g.6529325A>G;NM_182689.1:c.469+767A>G;NT_004487.19:g.6529325A>G;NM_182690.2:c.469+767A>G;NT_004487.19:g.6529325A>G 218652813 115643285 pilot_1_YRI_462496_chr1_153307307 7.77e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 BL 1945 255946399 147168263 SNP9679_1_153307361 2010.08.20 2010.08.20 2011.05.09 2011.07.08 132 BUSHMAN 1945 NM_005227.2:c.470-591delT;NT_004487.19:g.6529380delT;NM_182689.1:c.470-757delT;NT_004487.19:g.6529380delT;NM_182690.2:c.470-737delT;NT_004487.19:g.6529380delT 193129559 112084468 BUSHMAN-chr1-153307361-153307362 2010.02.16 2010.02.16 2010.07.04 2011.09.09 132 ENSEMBL 1945 NM_005227.2:c.470-579T>G;NT_004487.19:g.6529392T>G;NM_182689.1:c.470-745T>G;NT_004487.19:g.6529392T>G;NM_182690.2:c.470-725T>G;NT_004487.19:g.6529392T>G 138083849 75309008 ENSSNP11634678 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 ABI 1945 NM_005227.2:c.470-578_470-577del2;NT_004487.19:g.6529393_6529394del2;NM_182689.1:c.470-744_470-743del2;NT_004487.19:g.6529393_6529394del2;NM_182690.2:c.470-724_470-723del2;NT_004487.19:g.6529393_6529394del2 41313820 35275098 hCV32514578 2005.07.17 2005.07.17 2006.03.15 2011.10.06 132 HUMANGENOME_JCVI 1945 NM_005227.2:c.470-578_470-577del2;NT_004487.19:g.6529393_6529394del2;NM_182689.1:c.470-744_470-743del2;NT_004487.19:g.6529393_6529394del2;NM_182690.2:c.470-724_470-723del2;NT_004487.19:g.6529393_6529394del2 95243486 35275098 1104685105510 2008.03.21 2008.12.02 2006.03.15 2011.10.06 132 PJP 1945 NM_005227.2:c.470-578_470-577del2;NT_004487.19:g.6529393_6529394del2;NM_182689.1:c.470-744_470-743del2;NT_004487.19:g.6529393_6529394del2;NM_182690.2:c.470-724_470-723del2;NT_004487.19:g.6529393_6529394del2 294604969 35275098 DIP_42673_chr1_153307375 2011.01.21 2011.01.21 2006.03.15 2011.10.06 132 BCMHGSC_JDW 1945 103491357 78590247 JWB-4007676 2008.06.06 2009.05.11 2009.12.01 2011.07.08 132 1000GENOMES 1945 454391982 188215344 20101123_snps_559212_chr1_155040779 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 1945 328952659 140799092 20100804_snps_596195_chr1_155040811 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 HUMANGENOME_JCVI 1945 NM_005227.2:c.470-392_470-391ins3;NT_004487.19:g.6529579_6529580ins3;NM_182689.1:c.470-558_470-557ins3;NT_004487.19:g.6529579_6529580ins3;NM_182690.2:c.470-538_470-537ins3;NT_004487.19:g.6529579_6529580ins3 95243487 71077978 1104685105509 2008.03.21 2008.12.02 2009.02.13 2011.07.08 132 CSHL-HAPMAP 1945 NM_005227.2:c.470-148G>A;NT_004487.19:g.6529823G>A;NM_182689.1:c.470-314G>A;NT_004487.19:g.6529823G>A;NM_182690.2:c.470-294G>A;NT_004487.19:g.6529823G>A 19872818 12569179 CSHL-HuFF-200402.chr1.NT_079484.1_1491013 2004.02.21 2004.03.04 2004.02.28 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.470-148G>A;NT_004487.19:g.6529823G>A;NM_182689.1:c.470-314G>A;NT_004487.19:g.6529823G>A;NM_182690.2:c.470-294G>A;NT_004487.19:g.6529823G>A 74986909 12569179 ILMN_Human_1M_rs12569179 2007.08.29 2007.08.29 2004.02.28 2011.09.09 132 ILLUMINA 1945 NM_005227.2:c.470-148G>A;NT_004487.19:g.6529823G>A;NM_182689.1:c.470-314G>A;NT_004487.19:g.6529823G>A;NM_182690.2:c.470-294G>A;NT_004487.19:g.6529823G>A 172160831 12569179 Human1M-Duov3_B_rs12569179-128_T_F_1513960834 2009.10.02 2009.10.02 2004.02.28 2011.09.09 132 KRIBB_YJKIM 1945 NM_005227.2:c.470-148G>A;NT_004487.19:g.6529823G>A;NM_182689.1:c.470-314G>A;NT_004487.19:g.6529823G>A;NM_182690.2:c.470-294G>A;NT_004487.19:g.6529823G>A 119794309 12569179 KHS1848592 2009.02.05 2009.02.05 2004.02.28 2011.09.09 132 1000GENOMES 1945 NM_005227.2:c.470-144G>A;NT_004487.19:g.6529827G>A;NM_182689.1:c.470-310G>A;NT_004487.19:g.6529827G>A;NM_182690.2:c.470-290G>A;NT_004487.19:g.6529827G>A 454391983 112839033 20101123_snps_559213_chr1_155041185 4.57e-04 2011.07.20 2011.07.20 2010.07.04 2011.10.06 132 BUSHMAN 1945 NM_005227.2:c.470-144G>A;NT_004487.19:g.6529827G>A;NM_182689.1:c.470-310G>A;NT_004487.19:g.6529827G>A;NM_182690.2:c.470-290G>A;NT_004487.19:g.6529827G>A 199090268 112839033 BUSHMAN-chr1-153307808 4.57e-04 2010.03.06 2010.03.06 2010.07.04 2011.10.06 132 NHLBI-ESP 1945 341997623 138724248 ESP2500-chr1-155041395 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997624 148918689 ESP2500-chr1-155041397 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997627 142837088 ESP2500-chr1-155041442 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 NHLBI-ESP 1945 341997628 145129032 ESP2500-chr1-155041449 2011.03.25 2011.03.25 2011.05.09 2011.07.08 132 BUSHMAN 1945 NM_005227.2:c.*275C>A;NT_004487.19:g.6530382C>A;NM_182689.1:c.*91C>A;NT_004487.19:g.6530382C>A;NM_182690.2:c.*153C>A;NT_004487.19:g.6530382C>A 199090273 112399433 BUSHMAN-chr1-153308363 2010.03.06 2010.03.06 2010.07.04 2011.09.09 132 1000GENOMES 1945 328952660 144763497 20100804_snps_596196_chr1_155041770 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 328952661 138703028 20100804_snps_596197_chr1_155042048 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 328952662 141761111 20100804_snps_596198_chr1_155042107 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 328952663 146259832 20100804_snps_596199_chr1_155042224 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 1945 328952664 138128692 20100804_snps_596200_chr1_155042237 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 ENSEMBL 1945 NT_004487.19:g.6531025C>T 138083850 80109902 ENSSNP11634679 2009.05.16 2009.05.16 2009.12.01 2011.09.09 132 # Report date: 2012.1.24, Gene: EFNA4 (1945), ss count: 238, rs count: 112.