# 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 83596 NC_000019.9:g.50166407C>T;NM_001040668.1:c.-2674C>T;NM_138639.1:c.-2674C>T 465637056 183288452 20101123_snps_11804286_chr19_50166407 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166407C>T;NM_001040668.1:c.-2674C>T;NM_138639.1:c.-2674C>T 491164588 183288452 20110521_exome_672386_chr19_50166407 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166442C>T;NM_001040668.1:c.-2639C>T;NM_138639.1:c.-2639C>T 465637057 185945607 20101123_snps_11804287_chr19_50166442 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166442C>T;NM_001040668.1:c.-2639C>T;NM_138639.1:c.-2639C>T 491164589 185945607 20110521_exome_672387_chr19_50166442 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 WICVAR 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 3177822 2230666 WI-18844 1.14e-02 2001.06.28 2003.10.10 2001.08.15 2012.11.28 137 YUSUKE 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 4996662 2230666 IMS-JST170008 1.14e-02 2002.08.12 2003.10.10 2001.08.15 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 48295272 2230666 IRF3-06 1.14e-02 2005.08.19 2006.11.03 2001.08.15 2012.11.28 137 CGM_KYOTO 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 76872842 2230666 15362 1.14e-02 2007.09.12 2007.09.12 2001.08.15 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 243901405 2230666 pilot_1_CHB+JPT_5786482_chr19_54858275 1.14e-02 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 342505809 2230666 ESP2500-chr19-50166463 1.14e-02 2011.03.27 2011.03.27 2001.08.15 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 482335497 2230666 HumanOmni2.5-4v1_D_kgp21438967-0_B_R_1844230224 1.14e-02 2012.02.01 2012.02.01 2001.08.15 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 483841723 2230666 HumanOmni2.5-4v1_B_SNP19-54858275-0_B_R_1635692263 1.14e-02 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166463G>A;NM_001040668.1:c.-2618G>A;NM_138639.1:c.-2618G>A 491164590 2230666 20110521_exome_672388_chr19_50166463 1.14e-02 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166473T>C;NM_001040668.1:c.-2608T>C;NM_138639.1:c.-2608T>C 340515869 137902370 20100804_snps_12159410_chr19_50166473 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166473T>C;NM_001040668.1:c.-2608T>C;NM_138639.1:c.-2608T>C 491164591 137902370 20110521_exome_672389_chr19_50166473 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50166473T>C;NM_001040668.1:c.-2608T>C;NM_138639.1:c.-2608T>C 491551533 137902370 nonsyn_267759_chr_19_50166473 9.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50166481C>T;NM_001040668.1:c.-2600C>T;NM_138639.1:c.-2600C>T 48295271 34084728 IRF3-05 2005.08.19 2006.11.03 2006.03.13 2011.07.08 137 NHLBI-ESP 83596 NC_000019.9:g.50166481C>T;NM_001040668.1:c.-2600C>T;NM_138639.1:c.-2600C>T 342505810 34084728 ESP2500-chr19-50166481 2011.03.27 2011.03.27 2006.03.13 2011.07.08 137 CLINSEQ_SNP 83596 NC_000019.9:g.50166484A>G;NM_001040668.1:c.-2597A>G;NM_138639.1:c.-2597A>G 491772004 200070462 SNV-chr19-54858296 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 BUSHMAN 83596 NC_000019.9:g.50166511A>G;NM_001040668.1:c.-2570A>G;NM_138639.1:c.-2570A>G 203777048 113448877 BUSHMAN-chr19-54858322 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50166557C>A;NM_001040668.1:c.-2524C>A;NM_138639.1:c.-2524C>A 489175424 201586716 20110521_exome_261063_chr19_50166557 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166567C>T;NM_001040668.1:c.-2514C>T;NM_138639.1:c.-2514C>T 489175426 200811206 20110521_exome_261064_chr19_50166567 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166569A>G;NM_001040668.1:c.-2512A>G;NM_138639.1:c.-2512A>G 489175428 200534563 20110521_exome_261065_chr19_50166569 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166586C>A;NM_001040668.1:c.-2495C>A;NM_138639.1:c.-2495C>A 340515870 141776913 20100804_snps_12159411_chr19_50166586 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166586C>A;NM_001040668.1:c.-2495C>A;NM_138639.1:c.-2495C>A 491164592 141776913 20110521_exome_672390_chr19_50166586 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166607C>T;NM_001040668.1:c.-2474C>T;NM_138639.1:c.-2474C>T 489175430 202162642 20110521_exome_261066_chr19_50166607 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50166617T>A;NM_001040668.1:c.-2464T>A;NM_138639.1:c.-2464T>A 48295270 34745118 IRF3-04 2005.08.19 2006.11.03 2006.03.14 2011.07.08 137 NHLBI-ESP 83596 NC_000019.9:g.50166617T>A;NM_001040668.1:c.-2464T>A;NM_138639.1:c.-2464T>A 342505811 34745118 ESP2500-chr19-50166617 2011.03.27 2011.03.27 2006.03.14 2011.07.08 137 1000GENOMES 83596 NC_000019.9:g.50166649C>G;NM_001040668.1:c.-2432C>G;NM_138639.1:c.-2432C>G 465637058 189870557 20101123_snps_11804288_chr19_50166649 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166649C>G;NM_001040668.1:c.-2432C>G;NM_138639.1:c.-2432C>G 491164593 189870557 20110521_exome_672391_chr19_50166649 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 TSC-CSHL 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 1417615 968457 TSC0276730 2.29e-02 2000.09.07 2003.10.10 2000.10.05 2012.11.28 137 WICVAR 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 3177821 968457 WI-18843 2.29e-02 2001.06.28 2004.04.07 2000.10.05 2012.11.28 137 ABI 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 44164398 968457 hCV8703724 2.29e-02 2005.07.18 2007.08.14 2000.10.05 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 48295269 968457 IRF3-03 2.29e-02 2005.08.19 2006.11.03 2000.10.05 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 65730999 968457 Human1-rs968457 2.29e-02 2006.10.10 2006.10.10 2000.10.05 2012.11.28 137 AFFY 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 74814264 968457 SNP_M-304964 2.29e-02 2007.08.09 2007.08.09 2000.10.05 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 74890042 968457 ILMN_Human_1M_rs968457 2.29e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 KRIBB_YJKIM 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 119376013 968457 KHS1538260 2.29e-02 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 174888491 968457 Human1M-Duov3_B_rs968457-128_B_R_1513914750 2.29e-02 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 228172356 968457 pilot_1_YRI_9982039_chr19_54858462 2.29e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 244315468 968457 CVDSNP55v1_A_rs968457 2.29e-02 2010.06.10 2010.06.10 2000.10.05 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 342505812 968457 ESP2500-chr19-50166650 2.29e-02 2011.03.27 2011.03.27 2000.10.05 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 491164594 968457 20110521_exome_672392_chr19_50166650 2.29e-02 2012.02.22 2012.02.22 2000.10.05 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50166650C>T;NM_001040668.1:c.-2431C>T;NM_138639.1:c.-2431C>T 491551534 968457 nonsyn_267760_chr_19_50166650 2.29e-02 2012.03.06 2012.03.06 2000.10.05 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50166714T>C;NM_001040668.1:c.-2367T>C;NM_138639.1:c.-2367T>C 342505813 145341832 ESP2500-chr19-50166714 0 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166714T>C;NM_001040668.1:c.-2367T>C;NM_138639.1:c.-2367T>C 489175432 145341832 20110521_exome_261067_chr19_50166714 0 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50166714T>C;NM_001040668.1:c.-2367T>C;NM_138639.1:c.-2367T>C 491551535 145341832 nonsyn_267761_chr_19_50166714 0 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50166745A>G;NM_001040668.1:c.-2336A>G;NM_138639.1:c.-2336A>G 491772005 201186025 SNV-chr19-54858557 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 ABI 83596 NC_000019.9:g.50166754_50166755insG;NM_001040668.1:c.-2327_-2326insG;NM_138639.1:c.-2327_-2326insG 41044883 35954079 hCV32928710 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BCM-HGSC-SUB 83596 NC_000019.9:g.50166763G>A;NC_000019.9:g.50166763G>C;NM_001040668.1:c.-2318G>A;NM_001040668.1:c.-2318G>C;NM_138639.1:c.-2318G>A;NM_138639.1:c.-2318G>C 208557905 112234580 BCM_CMT_1011-3143964 5.00e-04 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166763G>A;NC_000019.9:g.50166763G>C;NM_001040668.1:c.-2318G>A;NM_001040668.1:c.-2318G>C;NM_138639.1:c.-2318G>A;NM_138639.1:c.-2318G>C 489175434 112234580 20110521_exome_261068_chr19_50166763 5.00e-04 2012.02.14 2012.02.14 2010.07.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166786G>A;NM_001040668.1:c.-2295G>A;NM_138639.1:c.-2295G>A 228172357 115470762 pilot_1_YRI_9982040_chr19_54858598 3.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166786G>A;NM_001040668.1:c.-2295G>A;NM_138639.1:c.-2295G>A 491164595 115470762 20110521_exome_672393_chr19_50166786 3.20e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 YUSUKE 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 4996663 3810260 IMS-JST170009 4.26e-02 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 48295273 3810260 IRF3-07 4.26e-02 2005.08.19 2006.11.03 2002.08.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 75018340 3810260 ILMN_Human_1M_rs3810260 4.26e-02 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 CGM_KYOTO 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 76872841 3810260 15361 4.26e-02 2007.09.12 2007.09.12 2002.08.28 2012.11.28 137 KRIBB_YJKIM 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 119464705 3810260 KHS1626952 4.26e-02 2009.02.04 2009.02.04 2002.08.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 173649306 3810260 Human1M-Duov3_B_rs3810260-128_T_R_1514004729 4.26e-02 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 243901407 3810260 pilot_1_CHB+JPT_5786484_chr19_54858607 4.26e-02 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 GMI 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 283236738 3810260 GMI_AK_SNP_7557159 4.26e-02 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 491164596 3810260 20110521_exome_672394_chr19_50166795 4.26e-02 2012.02.22 2012.02.22 2002.08.28 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50166795T>C;NM_001040668.1:c.-2286T>C;NM_138639.1:c.-2286T>C 491772006 3810260 SNV-chr19-54858607 4.26e-02 2012.03.07 2012.03.13 2002.08.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50166918C>T;NM_001040668.1:c.-2163C>T;NM_138639.1:c.-2163C>T 465637059 183177527 20101123_snps_11804289_chr19_50166918 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50166989G>C;NM_001040668.1:c.-2092G>C;NM_138639.1:c.-2092G>C 465637060 187865744 20101123_snps_11804290_chr19_50166989 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 83596 NC_000019.9:g.50167188G>A;NM_001040668.1:c.-1893G>A;NM_138639.1:c.-1893G>A 12457754 8104507 chr19.NT_011109.15_22435378 1.37e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50167188G>A;NM_001040668.1:c.-1893G>A;NM_138639.1:c.-1893G>A 340515871 8104507 20100804_snps_12159412_chr19_50167188 1.37e-02 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50167264C>T;NM_001040668.1:c.-1817C>T;NM_138639.1:c.-1817C>T 340515872 138648260 20100804_snps_12159413_chr19_50167264 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50167447G>C;NM_001040668.1:c.-1634G>C;NM_138639.1:c.-1634G>C 340515873 149284720 20100804_snps_12159414_chr19_50167447 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50167449C>A;NM_001040668.1:c.-1632C>A;NM_138639.1:c.-1632C>A 465637061 190973294 20101123_snps_11804291_chr19_50167449 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50167612A>C;NM_001040668.1:c.-1469A>C;NM_138639.1:c.-1469A>C 465637062 183292068 20101123_snps_11804292_chr19_50167612 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50167668A>T;NM_001040668.1:c.-1413A>T;NM_138639.1:c.-1413A>T 340515874 147409942 20100804_snps_12159415_chr19_50167668 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 3251031 2304207 IMS-JST061116 1.11e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 CGAP-GAI 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 16258759 2304207 1517567 1.11e-01 2003.11.18 2003.11.22 2001.09.28 2012.11.28 137 CGM_KYOTO 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 76872840 2304207 15360 1.11e-01 2007.09.12 2007.09.12 2001.09.28 2012.11.28 137 KRIBB_YJKIM 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 104800450 2304207 KHS1104824 1.11e-01 2008.06.09 2008.06.09 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 111470515 2304207 CEU.trio.12.15.2008_3629505_chr19_54859538 1.11e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 BUSHMAN 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 203777049 2304207 BUSHMAN-chr19-54859537 1.11e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 228172358 2304207 pilot_1_YRI_9982041_chr19_54859538 1.11e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 237700897 2304207 pilot_1_CEU_7305526_chr19_54859538 1.11e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 243901408 2304207 pilot_1_CHB+JPT_5786485_chr19_54859538 1.11e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 244289878 2304207 CVDSNP55v1_A_rs2304207 1.11e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 BL 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 255729807 2304207 SNP61908_19_54859538 1.11e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50167726C>G;NM_001040668.1:c.-1355C>G;NM_138639.1:c.-1355C>G 491551536 2304207 nonsyn_267762_chr_19_50167726 1.11e-01 2012.03.06 2012.03.06 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50167954G>C;NM_001040668.1:c.-1127G>C;NM_138639.1:c.-1127G>C 161064376 76863988 HumanOmni1-Quad_v1-0_B_SNP19-54859766-128_T_F_1588024576 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50167954G>C;NM_001040668.1:c.-1127G>C;NM_138639.1:c.-1127G>C 479351602 76863988 HumanOmni1-Quad_v1-0_C_kgp22853966-0_T_F_1862727750 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50167979C>T;NM_001040668.1:c.-1102C>T;NM_138639.1:c.-1102C>T 342505814 147660107 ESP2500-chr19-50167979 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 83596 NC_000019.9:g.50168052T>C;NM_001040668.1:c.-1029T>C;NM_138639.1:c.-1029T>C 342505815 140943712 ESP2500-chr19-50168052 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ABI 83596 NC_000019.9:g.50168122_50168123insA;NM_001040668.1:c.-959_-958insA;NM_138639.1:c.-959_-958insA 41010736 34856575 hCV32928711 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ABI 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 44181538 34739574 hCV7798218 6.32e-02 2005.07.18 2006.11.03 2006.03.14 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 74965875 34739574 ILMN_Human_1M_rs34739574 6.32e-02 2007.08.29 2007.08.29 2006.03.14 2012.11.28 137 BCMHGSC_JDW 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 90996529 34739574 JWB-1177969 6.32e-02 2008.03.01 2008.03.01 2006.03.14 2012.11.28 137 HUMANGENOME_JCVI 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 96311754 34739574 1103691162957 6.32e-02 2008.03.26 2008.03.26 2006.03.14 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 115232233 34739574 NA19240_2008_12_16_3271653_chr19_54859986 6.32e-02 2008.12.19 2008.12.19 2006.03.14 2012.11.28 137 ILLUMINA-UK 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 117727040 34739574 NA18507_000055882_NCBI36.1_chr19_54859986 6.32e-02 2009.01.20 2009.01.20 2006.03.14 2012.11.28 137 KRIBB_YJKIM 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 119912522 34739574 KHS1914479 6.32e-02 2009.02.05 2009.02.05 2006.03.14 2012.11.28 137 ENSEMBL 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 136247474 34739574 ENSSNP1542576 6.32e-02 2009.05.15 2009.10.15 2006.03.14 2012.11.28 137 ENSEMBL 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 137711810 34739574 ENSSNP5880323 6.32e-02 2009.05.16 2009.05.16 2006.03.14 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 160623345 34739574 HumanOmni1-Quad_v1-0_B_rs34739574-128_T_R_1513937655 6.32e-02 2009.08.06 2009.10.04 2006.03.14 2012.11.28 137 COMPLETE_GENOMICS 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 169964080 34739574 NA19240_36_chr19_54859986 6.32e-02 2009.10.01 2009.10.01 2006.03.14 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 173592586 34739574 Human1M-Duov3_B_rs34739574-128_T_R_1513937655 6.32e-02 2009.10.04 2009.10.04 2006.03.14 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 228172359 34739574 pilot_1_YRI_9982042_chr19_54859986 6.32e-02 2010.04.22 2010.04.22 2006.03.14 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 237700898 34739574 pilot_1_CEU_7305527_chr19_54859986 6.32e-02 2010.05.01 2010.05.01 2006.03.14 2012.11.28 137 PJP 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 292189702 34739574 SNP_1696060_chr19_54859986 6.32e-02 2011.01.21 2011.01.21 2006.03.14 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 480785102 34739574 HumanOmni2.5-4v1_B_rs34739574-128_T_R_1783932071 6.32e-02 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 480800805 34739574 HumanOmniExpress-12v1_C_rs34739574-131_T_R_1857448321 6.32e-02 2012.01.31 2012.01.31 2006.03.14 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 481708033 34739574 HumanOmni1-Quad_v1-0_C_rs34739574-131_T_R_1857448321 6.32e-02 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168174C>T;NM_001040668.1:c.-907C>T;NM_138639.1:c.-907C>T 485187271 34739574 HumanOmni2.5-4v1_D_rs34739574-131_T_R_1857448321 6.32e-02 2012.02.04 2012.02.04 2006.03.14 2012.11.28 137 BUSHMAN 83596 NC_000019.9:g.50168230A>C;NM_001040668.1:c.-851A>C;NM_138639.1:c.-851A>C 203777050 113907362 BUSHMAN-chr19-54860041 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50168357A>G;NM_001040668.1:c.-724A>G;NM_138639.1:c.-724A>G 228172360 78843549 pilot_1_YRI_9982043_chr19_54860169 1.47e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 83596 NC_000019.9:g.50168506C>T;NM_001040668.1:c.-575C>T;NM_138639.1:c.-575C>T 228172361 74735524 pilot_1_YRI_9982044_chr19_54860318 5.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168510T>A;NM_001040668.1:c.-571T>A;NM_138639.1:c.-571T>A 465637063 188684348 20101123_snps_11804293_chr19_50168510 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50168537C>T;NM_001040668.1:c.-544C>T;NM_138639.1:c.-544C>T 228172362 115732479 pilot_1_YRI_9982045_chr19_54860349 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50168673C>T;NM_001040668.1:c.-408C>T;NM_138639.1:c.-408C>T 465637064 192529016 20101123_snps_11804294_chr19_50168673 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CGM_KYOTO 83596 NC_000019.9:g.50168697delT;NC_000019.9:g.50168697delTinsTTTCCTC;NM_001040668.1:c.-384delT;NM_001040668.1:c.-384delTinsTTTCCTC;NM_138639.1:c.-384delT;NM_138639.1:c.-384delTinsTTTCCTC 76872839 56241346 15359 2007.09.12 2007.09.12 2007.12.07 2011.07.08 137 GMI 83596 NC_000019.9:g.50168707C>T;NM_001040668.1:c.-374C>T;NM_138639.1:c.-374C>T 283236739 199755093 GMI_AK_SNP_7557160 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 83596 NC_000019.9:g.50168760A>G;NM_001040668.1:c.-321A>G;NM_138639.1:c.-321A>G 465637065 185063299 20101123_snps_11804295_chr19_50168760 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50168765C>T;NM_001040668.1:c.-316C>T;NM_138639.1:c.-316C>T 340515876 143931729 20100804_snps_12159417_chr19_50168765 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50168841C>T;NM_001040668.1:c.-240C>T;NM_138639.1:c.-240C>T 340515878 148729350 20100804_snps_12159419_chr19_50168841 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 3251030 2304206 IMS-JST061115 3.51e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 14725305 2304206 chr19.NT_011109.15_22437061 3.51e-01 2003.11.10 2006.10.25 2001.09.28 2012.11.28 137 PERLEGEN 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 23615288 2304206 afd1615537 3.51e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 KYUGEN 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 35074877 2304206 QH10475 3.51e-01 2005.03.04 2006.11.02 2001.09.28 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 48295278 2304206 IRF3-12 3.51e-01 2005.08.19 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 75260490 2304206 ILMN_Human_1M_rs2304206 3.51e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 CGM_KYOTO 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 76872838 2304206 15358 3.51e-01 2007.09.12 2007.09.12 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 83302677 2304206 Cor18555_SNV_20070510.chr19_54860683 3.51e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 85530005 2304206 Cor19129_SNV_20070510.chr19_54860683 3.51e-01 2007.12.09 2007.12.09 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 85676451 2304206 Cor18517_SNV_20070510.chr19_54860683 3.51e-01 2007.12.09 2007.12.09 2001.09.28 2012.11.28 137 BGI 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 103443453 2304206 BGI_rs2304206 3.51e-01 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 111470523 2304206 CEU.trio.12.15.2008_3629506_chr19_54860683 3.51e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA-UK 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 117727043 2304206 NA18507_000055883_NCBI36.1_chr19_54860683 3.51e-01 2009.01.20 2009.01.20 2001.09.28 2012.11.28 137 KRIBB_YJKIM 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 119430321 2304206 KHS1592568 3.51e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 160534184 2304206 HumanOmni1-Quad_v1-0_B_rs2304206-128_T_R_1514210572 3.51e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 173278301 2304206 Human1M-Duov3_B_rs2304206-128_T_R_1514210572 3.51e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 203777051 2304206 BUSHMAN-chr19-54860682 3.51e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 211972572 2304206 YRI.trio.3.2010_1445182_chr19_54860683 3.51e-01 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 228172363 2304206 pilot_1_YRI_9982046_chr19_54860683 3.51e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 237700899 2304206 pilot_1_CEU_7305528_chr19_54860683 3.51e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 243901409 2304206 pilot_1_CHB+JPT_5786486_chr19_54860683 3.51e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 244289877 2304206 CVDSNP55v1_A_rs2304206 3.51e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 BL 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 255729816 2304206 SNP61909_19_54860683 3.51e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 PJP 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 292189703 2304206 SNP_1696061_chr19_54860683 3.51e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 480524406 2304206 HumanOmni2.5-4v1_B_rs2304206-128_T_R_1782908335 3.51e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 480540303 2304206 HumanOmniExpress-12v1_C_rs2304206-131_T_R_1859432146 3.51e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 481351128 2304206 HumanOmni1-Quad_v1-0_C_rs2304206-131_T_R_1859432146 3.51e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168871G>A;NM_001040668.1:c.-210G>A;NM_138639.1:c.-210G>A 485059446 2304206 HumanOmni2.5-4v1_D_rs2304206-131_T_R_1859432146 3.51e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168895G>A;NM_001040668.1:c.-186G>A;NM_138639.1:c.-186G>A 340515879 142452867 20100804_snps_12159420_chr19_50168895 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50168902C>G;NM_001040668.1:c.-179C>G;NM_138639.1:c.-179C>G 465637066 187554099 20101123_snps_11804296_chr19_50168902 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50168913G>C;NM_001040668.1:c.-168G>C;NM_138639.1:c.-168G>C 340515880 151315907 20100804_snps_12159421_chr19_50168913 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50168920G>A;NM_001040668.1:c.-161G>A;NM_138639.1:c.-161G>A 340515881 139412285 20100804_snps_12159422_chr19_50168920 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 3251029 2304205 IMS-JST061114 3.49e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 LEE 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 4400888 2304205 ge1170356 3.49e-01 2002.04.25 2003.10.10 2001.09.28 2012.11.28 137 LEE 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 4434199 2304205 e1170356 3.49e-01 2002.04.26 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 14724745 2304205 chr19.NT_011109.15_22437117 3.49e-01 2003.11.10 2003.11.22 2001.09.28 2012.11.28 137 CGAP-GAI 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 16258756 2304205 1517558 3.49e-01 2003.11.18 2003.11.22 2001.09.28 2012.11.28 137 SEQUENOM 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 24812694 2304205 sqnm202811 3.49e-01 2004.06.18 2004.08.05 2001.09.28 2012.11.28 137 KYUGEN 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 35074876 2304205 QH10474 3.49e-01 2005.03.04 2006.11.02 2001.09.28 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 48295275 2304205 IRF3-09 3.49e-01 2005.08.19 2006.11.03 2001.09.28 2012.11.28 137 CGM_KYOTO 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 76872837 2304205 15357 3.49e-01 2007.09.12 2007.09.12 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 81723865 2304205 Cor18555_SNV_20070510.chr19_54860739 3.49e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 84546148 2304205 Cor19129_SNV_20070510.chr19_54860739 3.49e-01 2007.12.07 2007.12.07 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 84628538 2304205 Cor18517_SNV_20070510.chr19_54860739 3.49e-01 2007.12.07 2007.12.07 2001.09.28 2012.11.28 137 BGI 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 103443454 2304205 BGI_rs2304205 3.49e-01 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 111470531 2304205 CEU.trio.12.15.2008_3629507_chr19_54860739 3.49e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA-UK 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 117727045 2304205 NA18507_000055884_NCBI36.1_chr19_54860739 3.49e-01 2009.01.20 2009.01.20 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 159849108 2304205 HumanOmni1-Quad_v1-0_B_GA016697-0_T_F_1533444867 3.49e-01 2009.08.04 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 168991709 2304205 Human1M-Duov3_B_GA016697-0_T_F_1533444867 3.49e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 203777052 2304205 BUSHMAN-chr19-54860738 3.49e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 211972574 2304205 YRI.trio.3.2010_1445183_chr19_54860739 3.49e-01 2010.03.31 2010.03.31 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 228172364 2304205 pilot_1_YRI_9982047_chr19_54860739 3.49e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 237700900 2304205 pilot_1_CEU_7305529_chr19_54860739 3.49e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 243901410 2304205 pilot_1_CHB+JPT_5786487_chr19_54860739 3.49e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 244289876 2304205 CVDSNP55v1_A_rs2304205 3.49e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 BL 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 255729821 2304205 SNP61910_19_54860739 3.49e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 PJP 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 292189704 2304205 SNP_1696062_chr19_54860739 3.49e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 479156507 2304205 HumanOmni1-Quad_v1-0_C_GA016697-0_T_F_1853027222 3.49e-01 2012.01.30 2012.01.30 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 483281242 2304205 HumanOmni2.5-4v1_D_kgp4030353-0_T_F_1816229829 3.49e-01 2012.02.02 2012.02.02 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50168927A>C;NM_001040668.1:c.-154A>C;NM_138639.1:c.-154A>C 483841725 2304205 HumanOmni2.5-4v1_B_SNP19-54860739-0_T_F_1644527636 3.49e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 LEE 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 4434198 3204440 e1170353 4.17e-02 2002.04.26 2003.10.10 2002.05.29 2011.07.08 137 CGAP-GAI 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 16258758 3204440 1517564 4.17e-02 2003.11.18 2003.11.22 2002.05.29 2011.07.08 137 KYUGEN 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 35074875 3204440 QH10473 4.17e-02 2005.03.04 2006.11.02 2002.05.29 2011.07.08 137 SNP500CANCER 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 48295276 3204440 IRF3-10 4.17e-02 2005.08.19 2006.11.03 2002.05.29 2011.07.08 137 CGM_KYOTO 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 76872836 3204440 15356 4.17e-02 2007.09.12 2007.09.12 2002.05.29 2011.07.08 137 HGSV 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 81127576 3204440 Cor18555_SNV_20070510.chr19_54860752 4.17e-02 2007.11.28 2007.11.28 2002.05.29 2011.07.08 137 1000GENOMES 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 228172365 3204440 pilot_1_YRI_9982048_chr19_54860752 4.17e-02 2010.04.22 2010.04.22 2002.05.29 2011.07.08 137 1000GENOMES 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 237700901 3204440 pilot_1_CEU_7305530_chr19_54860752 4.17e-02 2010.05.01 2010.05.01 2002.05.29 2011.07.08 137 ILLUMINA 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 244294077 3204440 CVDSNP55v1_A_rs3204440 4.17e-02 2010.06.10 2010.06.10 2002.05.29 2011.07.08 137 BL 83596 NC_000019.9:g.50168940A>G;NM_001040668.1:c.-141A>G;NM_138639.1:c.-141A>G 255729826 3204440 SNP61911_19_54860752 4.17e-02 2010.08.20 2010.08.20 2002.05.29 2011.07.08 137 COMPLETE_GENOMICS 83596 NC_000019.9:g.50168945C>T;NM_001040668.1:c.-136C>T;NM_138639.1:c.-136C>T 168299829 111859305 NA07022_36_chr19_54860757 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 YUSUKE 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 3251028 2304204 IMS-JST061113 3.78e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 14727687 2304204 chr19.NT_011109.15_22437210 3.78e-01 2003.11.10 2006.10.25 2001.09.28 2012.11.28 137 CGAP-GAI 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 16258755 2304204 1517557 3.78e-01 2003.11.18 2003.11.22 2001.09.28 2012.11.28 137 PERLEGEN 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 23615308 2304204 afd4307759 3.78e-01 2004.08.20 2004.09.13 2001.09.28 2012.11.28 137 KYUGEN 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 35074874 2304204 QH10472 3.78e-01 2005.03.04 2006.11.02 2001.09.28 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 48295267 2304204 IRF3-01 3.78e-01 2005.08.19 2006.11.03 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 65741820 2304204 Human1-rs2304204 3.78e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 PERLEGEN 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 69229990 2304204 PGP04307759 3.78e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 AFFY 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 74830040 2304204 SNP_M-586745 3.78e-01 2007.08.09 2007.08.09 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 74884435 2304204 ILMN_Human_1M_rs2304204 3.78e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 CGM_KYOTO 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 76872835 2304204 15355 3.78e-01 2007.09.12 2007.09.12 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 83186957 2304204 Cor18555_SNV_20070510.chr19_54860832 3.78e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 85485003 2304204 Cor19129_SNV_20070510.chr19_54860832 3.78e-01 2007.12.09 2007.12.09 2001.09.28 2012.11.28 137 HGSV 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 85622778 2304204 Cor18517_SNV_20070510.chr19_54860832 3.78e-01 2007.12.09 2007.12.09 2001.09.28 2012.11.28 137 BGI 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 103443455 2304204 BGI_rs2304204 3.78e-01 2008.06.06 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 111470539 2304204 CEU.trio.12.15.2008_3629508_chr19_54860832 3.78e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 115232239 2304204 NA19240_2008_12_16_3271654_chr19_54860832 3.78e-01 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 KRIBB_YJKIM 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 119430320 2304204 KHS1592567 3.78e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 160534183 2304204 HumanOmni1-Quad_v1-0_B_rs2304204-128_T_F_1513897333 3.78e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 169964100 2304204 NA19240_36_chr19_54860832 3.78e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 173278297 2304204 Human1M-Duov3_B_rs2304204-128_T_F_1513897333 3.78e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 203777053 2304204 BUSHMAN-chr19-54860831 3.78e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 228172366 2304204 pilot_1_YRI_9982049_chr19_54860832 3.78e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 237700902 2304204 pilot_1_CEU_7305531_chr19_54860832 3.78e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 243901411 2304204 pilot_1_CHB+JPT_5786488_chr19_54860832 3.78e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 244289875 2304204 CVDSNP55v1_A_rs2304204 3.78e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 GMI 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 283236740 2304204 GMI_AK_SNP_7557161 3.78e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 292189705 2304204 SNP_1696063_chr19_54860832 3.78e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 480524402 2304204 HumanOmni2.5-4v1_B_rs2304204-128_T_F_1735650796 3.78e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 480540298 2304204 HumanOmniExpress-12v1_C_rs2304204-131_T_F_1859514234 3.78e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 481351125 2304204 HumanOmni1-Quad_v1-0_C_rs2304204-131_T_F_1865369001 3.78e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169020T>C;NM_001040668.1:c.-61T>C;NM_138639.1:c.-61T>C 485059444 2304204 HumanOmni2.5-4v1_D_rs2304204-131_T_F_1859514234 3.78e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169081A>G;NM_001040668.1:c.1A>G;NM_138639.1:c.1A>G;NP_001035758.1:p.Met1Val;NP_619580.1:p.Met1Val 342505816 150208335 ESP2500-chr19-50169081 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50169081A>G;NM_001040668.1:c.1A>G;NM_138639.1:c.1A>G;NP_001035758.1:p.Met1Val;NP_619580.1:p.Met1Val 491551537 150208335 nonsyn_267763_chr_19_50169081 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169098G>A;NM_001040668.1:c.18G>A;NM_138639.1:c.18G>A;NP_001035758.1:p.Gly6=;NP_619580.1:p.Gly6= 342505817 145762717 ESP2500-chr19-50169098 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CLINSEQ_SNP 83596 NC_000019.9:g.50169107G>A;NM_001040668.1:c.27G>A;NM_138639.1:c.27G>A;NP_001035758.1:p.Pro9=;NP_619580.1:p.Pro9= 491772007 199911047 SNV-chr19-54860919 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169116C>T;NM_001040668.1:c.36C>T;NM_138639.1:c.36C>T;NP_001035758.1:p.Cys12=;NP_619580.1:p.Cys12= 342505818 148875442 ESP2500-chr19-50169116 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 BGI 83596 NC_000019.9:g.50169134G>T;NM_001040668.1:c.54G>T;NM_138639.1:c.54G>T;NP_001035758.1:p.Arg18=;NP_619580.1:p.Arg18= 103443456 78186439 BGI_YHSNP0127201 9.00e-04 2008.06.06 2009.06.17 2009.12.01 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169134G>T;NM_001040668.1:c.54G>T;NM_138639.1:c.54G>T;NP_001035758.1:p.Arg18=;NP_619580.1:p.Arg18= 489175436 78186439 20110521_exome_261069_chr19_50169134 9.00e-04 2012.02.14 2012.02.14 2009.12.01 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50169177C>T;NM_001040668.1:c.97C>T;NM_138639.1:c.97C>T;NP_001035758.1:p.Pro33Ser;NP_619580.1:p.Pro33Ser 491772008 200984195 SNV-chr19-54860989 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169179C>G;NC_000019.9:g.50169179C>T;NM_001040668.1:c.99C>G;NM_001040668.1:c.99C>T;NM_138639.1:c.99C>G;NM_138639.1:c.99C>T;NP_001035758.1:p.Pro33=;NP_619580.1:p.Pro33= 342505819 145496469 ESP2500-chr19-50169179 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50169179C>G;NC_000019.9:g.50169179C>T;NM_001040668.1:c.99C>G;NM_001040668.1:c.99C>T;NM_138639.1:c.99C>G;NM_138639.1:c.99C>T;NP_001035758.1:p.Pro33=;NP_619580.1:p.Pro33= 491772009 145496469 SNV-chr19-54860991 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169190C>T;NM_001040668.1:c.110C>T;NM_138639.1:c.110C>T;NP_001035758.1:p.Pro37Leu;NP_619580.1:p.Pro37Leu 342505820 138111341 ESP2500-chr19-50169190 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 83596 NC_000019.9:g.50169197A>T;NM_001040668.1:c.117A>T;NM_138639.1:c.117A>T;NP_001035758.1:p.Leu39=;NP_619580.1:p.Leu39= 342505821 142687869 ESP2500-chr19-50169197 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 ABI 83596 NC_000019.9:g.50169201_50169202insG;NM_001040668.1:c.121_122insG;NM_138639.1:c.121_122insG;NP_001035758.1:p.Trp41delinsTrpGlyfs;NP_619580.1:p.Trp41delinsTrpGlyfs 40962383 34958637 hCV32928712 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 NHLBI-ESP 83596 NC_000019.9:g.50169205C>T;NM_001040668.1:c.125C>T;NM_138639.1:c.125C>T;NP_001035758.1:p.Ala42Val;NP_619580.1:p.Ala42Val 342505822 144909468 ESP2500-chr19-50169205 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50169205C>T;NM_001040668.1:c.125C>T;NM_138639.1:c.125C>T;NP_001035758.1:p.Ala42Val;NP_619580.1:p.Ala42Val 491551538 144909468 nonsyn_267764_chr_19_50169205 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169206C>T;NM_001040668.1:c.126C>T;NM_138639.1:c.126C>T;NP_001035758.1:p.Ala42=;NP_619580.1:p.Ala42= 342505823 148185263 ESP2500-chr19-50169206 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 83596 NC_000019.9:g.50169212T>G;NM_001040668.1:c.132T>G;NM_138639.1:c.132T>G;NP_001035758.1:p.Tyr44Ter;NP_619580.1:p.Tyr44Ter 342505824 141156787 ESP2500-chr19-50169212 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50169212T>G;NM_001040668.1:c.132T>G;NM_138639.1:c.132T>G;NP_001035758.1:p.Tyr44Ter;NP_619580.1:p.Tyr44Ter 491551539 141156787 stopgl_267765_chr_19_50169212 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169216C>G;NM_001040668.1:c.136C>G;NM_138639.1:c.136C>G;NP_001035758.1:p.Pro46Ala;NP_619580.1:p.Pro46Ala 340515882 150028589 20100804_snps_12159423_chr19_50169216 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 2971384 2060263 TSC1090597 4.62e-02 2001.01.29 2003.10.10 2001.04.12 2012.11.28 137 PERLEGEN 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 23615322 2060263 afd4182523 4.62e-02 2004.08.20 2004.09.13 2001.04.12 2012.11.28 137 ABI 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 44161974 2060263 hCV11463289 4.62e-02 2005.07.18 2005.07.18 2001.04.12 2012.11.28 137 SNP500CANCER 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 48295277 2060263 IRF3-11 4.62e-02 2005.08.19 2006.11.03 2001.04.12 2012.11.28 137 HGSV 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 84263848 2060263 Cor18517_SNV_20070510.chr19_54861032 4.62e-02 2007.12.06 2007.12.06 2001.04.12 2012.11.28 137 SEATTLESEQ 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 159740588 2060263 BCL2L12-54861032 4.62e-02 2009.07.10 2009.07.10 2001.04.12 2012.11.28 137 BUSHMAN 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 203777054 2060263 BUSHMAN-chr19-54861031 4.62e-02 2010.03.09 2010.03.09 2001.04.12 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 228172367 2060263 pilot_1_YRI_9982050_chr19_54861032 4.62e-02 2010.04.22 2010.04.22 2001.04.12 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 342505825 2060263 ESP2500-chr19-50169220 4.62e-02 2011.03.27 2011.03.27 2001.04.12 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 482343005 2060263 HumanOmni2.5-4v1_D_kgp21480456-0_T_R_1844313192 4.62e-02 2012.02.01 2012.02.01 2001.04.12 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 483841727 2060263 HumanOmni2.5-4v1_B_SNP19-54861032-0_T_R_1647539501 4.62e-02 2012.02.03 2012.02.03 2001.04.12 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 491164597 2060263 20110521_exome_672395_chr19_50169220 4.62e-02 2012.02.22 2012.02.22 2001.04.12 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 491551540 2060263 nonsyn_267766_chr_19_50169220 4.62e-02 2012.03.06 2012.03.06 2001.04.12 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50169220G>T;NM_001040668.1:c.140G>T;NM_138639.1:c.140G>T;NP_001035758.1:p.Gly47Val;NP_619580.1:p.Gly47Val 491772010 2060263 SNV-chr19-54861032 4.62e-02 2012.03.07 2012.03.13 2001.04.12 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169227G>A;NM_001040668.1:c.147G>A;NM_138639.1:c.147G>A;NP_001035758.1:p.Val49=;NP_619580.1:p.Val49= 489175438 201895036 20110521_exome_261070_chr19_50169227 9.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169264C>T;NM_001040668.1:c.184C>T;NM_138639.1:c.184C>T;NP_001035758.1:p.Arg62Ter;NP_619580.1:p.Arg62Ter 228172368 79741544 pilot_1_YRI_9982051_chr19_54861076 9.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50169264C>T;NM_001040668.1:c.184C>T;NM_138639.1:c.184C>T;NP_001035758.1:p.Arg62Ter;NP_619580.1:p.Arg62Ter 342505826 79741544 ESP2500-chr19-50169264 9.00e-04 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50169264C>T;NM_001040668.1:c.184C>T;NM_138639.1:c.184C>T;NP_001035758.1:p.Arg62Ter;NP_619580.1:p.Arg62Ter 491164598 79741544 20110521_exome_672396_chr19_50169264 9.00e-04 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50169264C>T;NM_001040668.1:c.184C>T;NM_138639.1:c.184C>T;NP_001035758.1:p.Arg62Ter;NP_619580.1:p.Arg62Ter 491551541 79741544 stopgl_267767_chr_19_50169264 9.00e-04 2012.03.06 2012.03.06 2009.12.01 2012.11.28 137 KYUGEN 83596 NC_000019.9:g.50169402C>G;NM_001040668.1:c.244+78C>G;NM_138639.1:c.244+78C>G 35074873 28372865 QH10471 2005.03.04 2006.11.02 2005.05.24 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50169509G>A;NM_001040668.1:c.244+185G>A;NM_138639.1:c.244+185G>A 340515883 146612551 20100804_snps_12159424_chr19_50169509 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 83596 NC_000019.9:g.50169764T>C;NM_001040668.1:c.245-178T>C;NM_138639.1:c.245-178T>C 81890029 56752819 Cor18555_SNV_20070510.chr19_54861576 variation has been flagged as failed by submitter 2007.12.01 2007.12.01 2007.12.14 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50169795A>G;NM_001040668.1:c.245-147A>G;NM_138639.1:c.245-147A>G 340515884 140281418 20100804_snps_12159425_chr19_50169795 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50169929C>T;NM_001040668.1:c.245-13C>T;NM_138639.1:c.245-13C>T 489175440 200553874 20110521_exome_261071_chr19_50169929 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170094T>C;NM_001040668.1:c.359+38T>C;NM_138639.1:c.359+38T>C 465637067 191544096 20101123_snps_11804297_chr19_50170094 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170094T>C;NM_001040668.1:c.359+38T>C;NM_138639.1:c.359+38T>C 491164599 191544096 20110521_exome_672397_chr19_50170094 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170197G>C;NM_001040668.1:c.360-82G>C;NM_138639.1:c.360-79G>C 340515885 145379081 20100804_snps_12159426_chr19_50170197 8.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50170197G>C;NM_001040668.1:c.360-82G>C;NM_138639.1:c.360-79G>C 491772011 145379081 SNV-chr19-54862009 8.20e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 CORNELL 83596 NC_000019.9:g.50170280C>T;NM_001040668.1:c.361C>T;NM_138639.1:c.364C>T;NP_001035758.1:p.Pro121Ser;NP_619580.1:p.Pro122Ser 86269411 61739444 hCV25999677 3.20e-03 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170280C>T;NM_001040668.1:c.361C>T;NM_138639.1:c.364C>T;NP_001035758.1:p.Pro121Ser;NP_619580.1:p.Pro122Ser 340515886 61739444 20100804_snps_12159427_chr19_50170280 3.20e-03 2011.03.22 2011.03.22 2008.03.23 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50170280C>T;NM_001040668.1:c.361C>T;NM_138639.1:c.364C>T;NP_001035758.1:p.Pro121Ser;NP_619580.1:p.Pro122Ser 342505827 61739444 ESP2500-chr19-50170280 3.20e-03 2011.03.27 2011.03.27 2008.03.23 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170280C>T;NM_001040668.1:c.361C>T;NM_138639.1:c.364C>T;NP_001035758.1:p.Pro121Ser;NP_619580.1:p.Pro122Ser 491164600 61739444 20110521_exome_672398_chr19_50170280 3.20e-03 2012.02.22 2012.02.22 2008.03.23 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50170280C>T;NM_001040668.1:c.361C>T;NM_138639.1:c.364C>T;NP_001035758.1:p.Pro121Ser;NP_619580.1:p.Pro122Ser 491551542 61739444 splice_267768_chr_19_50170280 3.20e-03 2012.03.06 2012.03.06 2008.03.23 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50170313C>T;NM_001040668.1:c.394C>T;NM_138639.1:c.397C>T;NP_001035758.1:p.Arg132Cys;NP_619580.1:p.Arg133Cys 342505828 147519290 ESP2500-chr19-50170313 1.40e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170313C>T;NM_001040668.1:c.394C>T;NM_138639.1:c.397C>T;NP_001035758.1:p.Arg132Cys;NP_619580.1:p.Arg133Cys 465637068 147519290 20101123_snps_11804298_chr19_50170313 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170313C>T;NM_001040668.1:c.394C>T;NM_138639.1:c.397C>T;NP_001035758.1:p.Arg132Cys;NP_619580.1:p.Arg133Cys 491164601 147519290 20110521_exome_672399_chr19_50170313 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50170313C>T;NM_001040668.1:c.394C>T;NM_138639.1:c.397C>T;NP_001035758.1:p.Arg132Cys;NP_619580.1:p.Arg133Cys 491551543 147519290 nonsyn_267769_chr_19_50170313 1.40e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50170346C>T;NM_001040668.1:c.427C>T;NM_138639.1:c.430C>T;NP_001035758.1:p.Arg143Ter;NP_619580.1:p.Arg144Ter 342505829 140106231 ESP2500-chr19-50170346 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50170346C>T;NM_001040668.1:c.427C>T;NM_138639.1:c.430C>T;NP_001035758.1:p.Arg143Ter;NP_619580.1:p.Arg144Ter 491551544 140106231 stopgl_267770_chr_19_50170346 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50170347G>A;NM_001040668.1:c.428G>A;NM_138639.1:c.431G>A;NP_001035758.1:p.Arg143Gln;NP_619580.1:p.Arg144Gln 342505830 145624833 ESP2500-chr19-50170347 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50170347G>A;NM_001040668.1:c.428G>A;NM_138639.1:c.431G>A;NP_001035758.1:p.Arg143Gln;NP_619580.1:p.Arg144Gln 491551545 145624833 nonsyn_267771_chr_19_50170347 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170370C>T;NM_001040668.1:c.451C>T;NM_138639.1:c.454C>T;NP_001035758.1:p.Pro151Ser;NP_619580.1:p.Pro152Ser 340515887 149021967 20100804_snps_12159428_chr19_50170370 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50170370C>T;NM_001040668.1:c.451C>T;NM_138639.1:c.454C>T;NP_001035758.1:p.Pro151Ser;NP_619580.1:p.Pro152Ser 342505831 149021967 ESP2500-chr19-50170370 3.70e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170370C>T;NM_001040668.1:c.451C>T;NM_138639.1:c.454C>T;NP_001035758.1:p.Pro151Ser;NP_619580.1:p.Pro152Ser 491164602 149021967 20110521_exome_672400_chr19_50170370 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50170370C>T;NM_001040668.1:c.451C>T;NM_138639.1:c.454C>T;NP_001035758.1:p.Pro151Ser;NP_619580.1:p.Pro152Ser 491551546 149021967 nonsyn_267772_chr_19_50170370 3.70e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50170370C>T;NM_001040668.1:c.451C>T;NM_138639.1:c.454C>T;NP_001035758.1:p.Pro151Ser;NP_619580.1:p.Pro152Ser 491772012 149021967 SNV-chr19-54862182 3.70e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50170374G>A;NM_001040668.1:c.455G>A;NM_138639.1:c.458G>A;NP_001035758.1:p.Arg152Gln;NP_619580.1:p.Arg153Gln 342505832 148704394 ESP2500-chr19-50170374 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170374G>A;NM_001040668.1:c.455G>A;NM_138639.1:c.458G>A;NP_001035758.1:p.Arg152Gln;NP_619580.1:p.Arg153Gln 465637069 148704394 20101123_snps_11804299_chr19_50170374 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 EXOME_CHIP 83596 NC_000019.9:g.50170374G>A;NM_001040668.1:c.455G>A;NM_138639.1:c.458G>A;NP_001035758.1:p.Arg152Gln;NP_619580.1:p.Arg153Gln 491551547 148704394 nonsyn_267773_chr_19_50170374 5.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 83596 NC_000019.9:g.50170390C>T;NM_001040668.1:c.471C>T;NM_138639.1:c.474C>T;NP_001035758.1:p.Pro157=;NP_619580.1:p.Pro158= 342505833 142297125 ESP2500-chr19-50170390 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 EXOME_CHIP 83596 NC_000019.9:g.50170394C>T;NM_001040668.1:c.475C>T;NM_138639.1:c.478C>T;NP_001035758.1:p.Arg159Cys;NP_619580.1:p.Arg160Cys 491551548 201494242 nonsyn_267774_chr_19_50170394 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 83596 NC_000019.9:g.50170404A>G;NM_001040668.1:c.485A>G;NM_138639.1:c.488A>G;NP_001035758.1:p.Tyr162Cys;NP_619580.1:p.Tyr163Cys 489175442 200118913 20110521_exome_261072_chr19_50170404 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 83596 NC_000019.9:g.50170430C>G;NM_001040668.1:c.499+12C>G;NM_138639.1:c.502+12C>G 491772013 200531303 SNV-chr19-54862242 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 83596 ARRAY(0x58217bb0) 491772014 201413687 SNV-chr19-54862306 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50170577A>G;NM_001040668.1:c.499+159A>G;NM_138639.1:c.502+159A>G 465637070 181952011 20101123_snps_11804300_chr19_50170577 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 83596 NC_000019.9:g.50170721C>T;NM_001040668.1:c.499+303C>T;NM_138639.1:c.502+303C>T 340515888 143027981 20100804_snps_12159429_chr19_50170721 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50170803T>C;NM_001040668.1:c.499+385T>C;NM_138639.1:c.502+385T>C 340515889 148264878 20100804_snps_12159430_chr19_50170803 0 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 83596 NC_000019.9:g.50170862A>C;NM_001040668.1:c.499+444A>C;NM_138639.1:c.502+444A>C 465637071 184986263 20101123_snps_11804301_chr19_50170862 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 83596 NC_000019.9:g.50170898G>A;NM_001040668.1:c.499+480G>A;NM_138639.1:c.502+480G>A 14707820 10412713 chr19.NT_011109.15_22439088 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50170898G>A;NM_001040668.1:c.499+480G>A;NM_138639.1:c.502+480G>A 74994562 10412713 ILMN_Human_1M_rs10412713 2007.08.29 2007.08.29 2003.12.05 2012.11.28 137 KRIBB_YJKIM 83596 NC_000019.9:g.50170898G>A;NM_001040668.1:c.499+480G>A;NM_138639.1:c.502+480G>A 119621020 10412713 KHS1783267 2009.02.05 2009.02.05 2003.12.05 2012.11.28 137 ILLUMINA 83596 NC_000019.9:g.50170898G>A;NM_001040668.1:c.499+480G>A;NM_138639.1:c.502+480G>A 170040646 10412713 Human1M-Duov3_B_rs10412713-128_B_R_1513951635 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 1000GENOMES 83596 NC_000019.9:g.50171020A>G;NM_001040668.1:c.499+602A>G;NM_138639.1:c.502+602A>G 228172369 114345261 pilot_1_YRI_9982052_chr19_54862832 1.47e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 # Report date: 2013.2.9, Gene: BCL2L12 (83596), ss count: 304, rs count: 96.