# 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 ENSEMBL 2065 NC_000012.11:g.56471832A>C;NG_011529.1:g.2941A>C;NM_001982.3:c.-2253A>C 133183789 76460727 ENSSNP10616186 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 GMI 2065 NC_000012.11:g.56471843_56471844insA;NG_011529.1:g.2952_2953insA;NM_001982.3:c.-2242_-2241insA 289130221 201089580 GMI_AK_INDEL_803731 2010.12.27 2011.12.28 2012.05.04 2012.05.04 137 SSAHASNP 2065 NC_000012.11:g.56472029A>G;NG_011529.1:g.3138A>G;NM_001005915.1:c.-2056A>G;NM_001982.3:c.-2056A>G 20873675 12811106 WGSA-200403-chr12.chr12.NT_029419.10_18615335 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 SSAHASNP 2065 NC_000012.11:g.56472036T>C;NG_011529.1:g.3145T>C;NM_001005915.1:c.-2049T>C;NM_001982.3:c.-2049T>C 20881313 12812697 WGSA-200403-chr12.chr12.NT_029419.10_18615342 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56472042G>T;NG_011529.1:g.3151G>T;NM_001005915.1:c.-2043G>T;NM_001982.3:c.-2043G>T 337368316 147802594 20100804_snps_9011857_chr12_56472042 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56472052G>A;NG_011529.1:g.3161G>A;NM_001005915.1:c.-2033G>A;NM_001982.3:c.-2033G>A 462884800 183499024 20101123_snps_9052030_chr12_56472052 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 2065 NC_000012.11:g.56472099C>T;NG_011529.1:g.3208C>T;NM_001005915.1:c.-1986C>T;NM_001982.3:c.-1986C>T 20875369 12811472 WGSA-200403-chr12.chr12.NT_029419.10_18615405 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 ABI 2065 NC_000012.11:g.56472099C>T;NG_011529.1:g.3208C>T;NM_001005915.1:c.-1986C>T;NM_001982.3:c.-1986C>T 40108011 12811472 hCV31186726 2005.07.16 2005.07.16 2004.04.05 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56472100G>A;NG_011529.1:g.3209G>A;NM_001005915.1:c.-1985G>A;NM_001982.3:c.-1985G>A 462884801 189451890 20101123_snps_9052031_chr12_56472100 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 2065 NC_000012.11:g.56472113C>T;NG_011529.1:g.3222C>T;NM_001005915.1:c.-1972C>T;NM_001982.3:c.-1972C>T 20875412 12811477 WGSA-200403-chr12.chr12.NT_029419.10_18615419 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56472126C>T;NG_011529.1:g.3235C>T;NM_001005915.1:c.-1959C>T;NM_001982.3:c.-1959C>T 462884802 192488000 20101123_snps_9052032_chr12_56472126 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2065 NC_000012.11:g.56472279delA;NG_011529.1:g.3388delA;NM_001005915.1:c.-1806delA;NM_001982.3:c.-1806delA 40235774 34938837 hCV33213338 2005.07.16 2005.07.16 2006.03.14 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56472279delA;NG_011529.1:g.3388delA;NM_001005915.1:c.-1806delA;NM_001982.3:c.-1806delA 101020268 34938837 INDEL_GP36_2008a_2612856_0 2008.05.17 2008.05.17 2006.03.14 2012.11.28 137 BL 2065 NC_000012.11:g.56472279delA;NG_011529.1:g.3388delA;NM_001005915.1:c.-1806delA;NM_001982.3:c.-1806delA 256118365 34938837 SNP3993_12_54758545 2010.08.20 2010.08.20 2006.03.14 2012.11.28 137 GMI 2065 NC_000012.11:g.56472279delA;NG_011529.1:g.3388delA;NM_001005915.1:c.-1806delA;NM_001982.3:c.-1806delA 289130222 34938837 GMI_AK_INDEL_803732 2010.12.27 2011.12.28 2006.03.14 2012.11.28 137 PJP 2065 NC_000012.11:g.56472279delA;NG_011529.1:g.3388delA;NM_001005915.1:c.-1806delA;NM_001982.3:c.-1806delA 294753858 34938837 DIP_191562_chr12_54758546 2011.01.22 2011.01.22 2006.03.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56472286A>C;NG_011529.1:g.3395A>C;NM_001005915.1:c.-1799A>C;NM_001982.3:c.-1799A>C 337368318 145007073 20100804_snps_9011859_chr12_56472286 2.11e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 2065 NC_000012.11:g.56472293A>G;NC_000012.11:g.56472293delA;NG_011529.1:g.3402A>G;NG_011529.1:g.3402delA;NM_001005915.1:c.-1792A>G;NM_001005915.1:c.-1792delA;NM_001982.3:c.-1792A>G;NM_001982.3:c.-1792delA 81899535 58034809 Cor18555_DIV_20070510.chr12_54758559-54758561_1 2007.12.01 2007.12.01 2007.12.15 2012.05.16 137 HGSV 2065 NC_000012.11:g.56472293A>G;NC_000012.11:g.56472293delA;NG_011529.1:g.3402A>G;NG_011529.1:g.3402delA;NM_001005915.1:c.-1792A>G;NM_001005915.1:c.-1792delA;NM_001982.3:c.-1792A>G;NM_001982.3:c.-1792delA 81910962 58034809 Cor18555_DIV_20070510.chr12_54758559-54758561_2 2007.12.01 2007.12.01 2007.12.15 2012.05.16 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56472293A>G;NC_000012.11:g.56472293delA;NG_011529.1:g.3402A>G;NG_011529.1:g.3402delA;NM_001005915.1:c.-1792A>G;NM_001005915.1:c.-1792delA;NM_001982.3:c.-1792A>G;NM_001982.3:c.-1792delA 95597491 58034809 1104685052984 2008.03.22 2008.12.03 2007.12.15 2012.05.16 137 1000GENOMES 2065 NC_000012.11:g.56472293A>G;NC_000012.11:g.56472293delA;NG_011529.1:g.3402A>G;NG_011529.1:g.3402delA;NM_001005915.1:c.-1792A>G;NM_001005915.1:c.-1792delA;NM_001982.3:c.-1792A>G;NM_001982.3:c.-1792delA 327980102 58034809 YRI_chr12_54758560_indel 2011.03.13 2011.04.03 2007.12.15 2012.05.16 137 BL 2065 NC_000012.11:g.56472294G>A;NG_011529.1:g.3403G>A;NM_001005915.1:c.-1791G>A;NM_001982.3:c.-1791G>A 255141555 76454111 SNP67592_12_54758561 variation has been flagged as failed by submitter 2010.08.20 2010.08.20 2009.12.01 2011.07.08 137 ILLUMINA 2065 NC_000012.11:g.56472299G>A;NG_011529.1:g.3408G>A;NM_001005915.1:c.-1786G>A;NM_001982.3:c.-1786G>A 161047228 75341312 HumanOmni1-Quad_v1-0_B_SNP12-54758566-0_B_R_1588269339 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56472299G>A;NG_011529.1:g.3408G>A;NM_001005915.1:c.-1786G>A;NM_001982.3:c.-1786G>A 479359250 75341312 HumanOmni1-Quad_v1-0_C_kgp22855905-0_B_R_1862708597 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56472554G>T;NG_011529.1:g.3663G>T;NM_001005915.1:c.-1531G>T;NM_001982.3:c.-1531G>T 198224994 112552087 BUSHMAN-chr12-54758820 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56472878G>A;NG_011529.1:g.3987G>A;NM_001005915.1:c.-1207G>A;NM_001982.3:c.-1207G>A 208437407 112051709 BCM_CMT_1011-2440713 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56473152G>C;NG_011529.1:g.4261G>C;NM_001005915.1:c.-933G>C;NM_001982.3:c.-933G>C 208437991 112104740 BCM_CMT_1011-2440913 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56473315C>T;NG_011529.1:g.4424C>T;NM_001005915.1:c.-770C>T;NM_001982.3:c.-770C>T 337368319 144911105 20100804_snps_9011860_chr12_56473315 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56473492C>A;NG_011529.1:g.4601C>A;NM_001005915.1:c.-593C>A;NM_001982.3:c.-593C>A 462884803 185457835 20101123_snps_9052033_chr12_56473492 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56473516G>A;NG_011529.1:g.4625G>A;NM_001005915.1:c.-569G>A;NM_001982.3:c.-569G>A 337368320 149216050 20100804_snps_9011861_chr12_56473516 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 2065 NC_000012.11:g.56473548A>G;NG_011529.1:g.4657A>G;NM_001005915.1:c.-537A>G;NM_001982.3:c.-537A>G 4945125 3759093 IMS-JST112464 3.70e-03 2002.08.01 2003.10.10 2002.08.28 2012.11.28 137 KYUGEN 2065 NC_000012.11:g.56473548A>G;NG_011529.1:g.4657A>G;NM_001005915.1:c.-537A>G;NM_001982.3:c.-537A>G 28459680 3759093 QH00787 3.70e-03 2004.07.07 2006.11.02 2002.08.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56473548A>G;NG_011529.1:g.4657A>G;NM_001005915.1:c.-537A>G;NM_001982.3:c.-537A>G 160637638 3759093 HumanOmni1-Quad_v1-0_B_rs3759093-128_B_R_1578069187 3.70e-03 2009.08.06 2009.10.04 2002.08.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56473548A>G;NG_011529.1:g.4657A>G;NM_001005915.1:c.-537A>G;NM_001982.3:c.-537A>G 242503514 3759093 pilot_1_CHB+JPT_4388591_chr12_54759815 3.70e-03 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56473548A>G;NG_011529.1:g.4657A>G;NM_001005915.1:c.-537A>G;NM_001982.3:c.-537A>G 481765347 3759093 HumanOmni1-Quad_v1-0_C_rs3759093-131_B_R_1863111273 3.70e-03 2012.02.01 2012.02.01 2002.08.28 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56473557A>G;NG_011529.1:g.4666A>G;NM_001005915.1:c.-528A>G;NM_001982.3:c.-528A>G 120255325 75540345 NT_029419.11_18616863 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 BUSHMAN 2065 NC_000012.11:g.56473601C>T;NG_011529.1:g.4710C>T;NM_001005915.1:c.-484C>T;NM_001982.3:c.-484C>T 198224999 112003232 BUSHMAN-chr12-54759867 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56473780G>A;NG_011529.1:g.4889G>A;NM_001005915.1:c.-305G>A;NM_001982.3:c.-305G>A 211287915 115699610 YRI.trio.3.2010_1104209_chr12_54760047 7.19e-02 2010.03.30 2010.03.30 2010.07.14 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56473780G>A;NG_011529.1:g.4889G>A;NM_001005915.1:c.-305G>A;NM_001982.3:c.-305G>A 225768563 115699610 pilot_1_YRI_7578246_chr12_54760047 7.19e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BCM_SSAHASNP 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 11019283 7297175 chr12.NT_029419.10_18617114 3.82e-01 2003.07.01 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 15834989 7297175 NT_029419.10_18617114 3.82e-01 2003.11.17 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 19934768 7297175 CSHL-HuFF-200402.chr12.NT_029419.10_18617114 3.82e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 ABI 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 40118073 7297175 hCV2022153 3.82e-01 2005.07.16 2005.07.16 2003.07.11 2012.11.28 137 HGSV 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 78657245 7297175 Cor12878_SNV_20070510.chr12_54760075 3.82e-01 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 97311598 7297175 1103649448827 3.82e-01 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 103050304 7297175 BGI_rs7297175 3.82e-01 2008.06.05 2009.10.21 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 113585948 7297175 NA19240_2008_12_16_2464834_chr12_54760075 3.82e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 120253918 7297175 NT_029419.11_18617114 3.82e-01 2009.04.10 2009.04.24 2003.07.11 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 132134266 7297175 ENSSNP760569 3.82e-01 2009.05.11 2010.03.07 2003.07.11 2012.11.28 137 GMI 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 157507921 7297175 GMI_SNP_194170423 3.82e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 168344843 7297175 NA07022_36_chr12_54760075 3.82e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 208402420 7297175 BCM_CMT_1011-2428933 3.82e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 225768564 7297175 pilot_1_YRI_7578247_chr12_54760075 3.82e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 235946034 7297175 pilot_1_CEU_5550663_chr12_54760075 3.82e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 242503515 7297175 pilot_1_CHB+JPT_4388592_chr12_54760075 3.82e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 255141560 7297175 SNP67593_12_54760075 3.82e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 281408638 7297175 GMI_AK_SNP_5729027 3.82e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 2065 NC_000012.11:g.56473808T>C;NG_011529.1:g.4917T>C;NM_001005915.1:c.-277T>C;NM_001982.3:c.-277T>C 291256964 7297175 SNP_763322_chr12_54760075 3.82e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56473875_56473876delCT;NG_011529.1:g.4984_4985delCT;NM_001005915.1:c.-210_-209delCT;NM_001982.3:c.-210_-209delCT 327535871 141470287 CEU_chr12_54760141_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 ILLUMINA-UK 2065 NC_000012.11:g.56473890T>A;NG_011529.1:g.4999T>A;NM_001005915.1:c.-195T>A;NM_001982.3:c.-195T>A 118827966 74094518 NA18507_000071840_NCBI36.1_chr12_54760157 3.98e-02 2009.01.21 2009.01.21 2009.02.15 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56473890T>A;NG_011529.1:g.4999T>A;NM_001005915.1:c.-195T>A;NM_001982.3:c.-195T>A 198225004 74094518 BUSHMAN-chr12-54760156 3.98e-02 2010.03.06 2010.03.06 2009.02.15 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56473890T>A;NG_011529.1:g.4999T>A;NM_001005915.1:c.-195T>A;NM_001982.3:c.-195T>A 225768565 74094518 pilot_1_YRI_7578248_chr12_54760157 3.98e-02 2010.04.22 2010.04.22 2009.02.15 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56473892A>T;NG_011529.1:g.5001A>T;NM_001005915.1:c.-193A>T;NM_001982.3:c.-193A>T 198225009 113949839 BUSHMAN-chr12-54760158 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886466 67420827 INDEL_GP36_2008a_2629878_0 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886468 67420827 INDEL_GP36_2008a_2629878_1 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886469 67420827 INDEL_GP36_2008a_2629878_2 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886471 67420827 INDEL_GP36_2008a_2629878_3 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886473 67420827 INDEL_GP36_2008a_2629878_4 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886477 67420827 INDEL_GP36_2008a_2629878_5 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886478 67420827 INDEL_GP36_2008a_2629878_6 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886482 67420827 INDEL_GP36_2008a_2629878_7 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474137_56474138insG;NG_011529.1:g.5246_5247insG;NM_001005915.1:c.53_54insG;NM_001982.3:c.53_54insG;NP_001005915.1:p.Arg18delinsArgGlyfs;NP_001973.2:p.Arg18delinsArgGlyfs 101886486 67420827 INDEL_GP36_2008a_2629878_8 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56474143C>A;NG_011529.1:g.5252C>A;NM_001005915.1:c.59C>A;NM_001982.3:c.59C>A;NP_001005915.1:p.Ser20Tyr;NP_001973.2:p.Ser20Tyr 48533441 34379766 NC_000012.9_54760410 2005.10.20 2005.11.29 2006.03.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474143C>A;NG_011529.1:g.5252C>A;NM_001005915.1:c.59C>A;NM_001982.3:c.59C>A;NP_001005915.1:p.Ser20Tyr;NP_001973.2:p.Ser20Tyr 160621457 34379766 HumanOmni1-Quad_v1-0_B_rs34379766-128_T_F_1562343591 2009.08.06 2009.10.04 2006.03.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474143C>A;NG_011529.1:g.5252C>A;NM_001005915.1:c.59C>A;NM_001982.3:c.59C>A;NP_001005915.1:p.Ser20Tyr;NP_001973.2:p.Ser20Tyr 481700443 34379766 HumanOmni1-Quad_v1-0_C_rs34379766-131_T_F_1863341721 2012.02.01 2012.02.01 2006.03.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474162G>A;NG_011529.1:g.5271G>A;NM_001005915.1:c.78G>A;NM_001982.3:c.78G>A;NP_001005915.1:p.Gln26=;NP_001973.2:p.Gln26= 462884804 190034531 20101123_snps_9052034_chr12_56474162 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474162G>A;NG_011529.1:g.5271G>A;NM_001005915.1:c.78G>A;NM_001982.3:c.78G>A;NP_001005915.1:p.Gln26=;NP_001973.2:p.Gln26= 491044640 190034531 20110521_exome_552438_chr12_56474162 3.20e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474321C>T;NG_011529.1:g.5430C>T;NM_001005915.1:c.82+155C>T;NM_001982.3:c.82+155C>T 462884805 181620928 20101123_snps_9052035_chr12_56474321 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670169 67466413 INDEL_GP36_2008a_2845993_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670171 67466413 INDEL_GP36_2008a_2845993_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670173 67466413 INDEL_GP36_2008a_2845993_2 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670176 67466413 INDEL_GP36_2008a_2845993_3 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670180 67466413 INDEL_GP36_2008a_2845993_4 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670183 67466413 INDEL_GP36_2008a_2845993_5 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670184 67466413 INDEL_GP36_2008a_2845993_6 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670189 67466413 INDEL_GP36_2008a_2845993_7 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670190 67466413 INDEL_GP36_2008a_2845993_8 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670193 67466413 INDEL_GP36_2008a_2845993_9 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670197 67466413 INDEL_GP36_2008a_2845993_10 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670199 67466413 INDEL_GP36_2008a_2845993_11 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670202 67466413 INDEL_GP36_2008a_2845993_12 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670205 67466413 INDEL_GP36_2008a_2845993_13 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670208 67466413 INDEL_GP36_2008a_2845993_14 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670211 67466413 INDEL_GP36_2008a_2845993_15 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670214 67466413 INDEL_GP36_2008a_2845993_16 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670217 67466413 INDEL_GP36_2008a_2845993_17 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670220 67466413 INDEL_GP36_2008a_2845993_18 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670223 67466413 INDEL_GP36_2008a_2845993_19 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670227 67466413 INDEL_GP36_2008a_2845993_20 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670230 67466413 INDEL_GP36_2008a_2845993_21 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670232 67466413 INDEL_GP36_2008a_2845993_22 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56474325delT;NG_011529.1:g.5434delT;NM_001005915.1:c.82+159delT;NM_001982.3:c.82+159delT 101670236 67466413 INDEL_GP36_2008a_2845993_23 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 ABI 2065 NC_000012.11:g.56474329_56474330insG;NG_011529.1:g.5438_5439insG;NM_001005915.1:c.82+163_82+164insG;NM_001982.3:c.82+163_82+164insG 40180571 34251350 hCV33213340 2005.07.16 2005.07.16 2006.03.13 2011.07.08 137 YUSUKE 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 4927503 3741499 IMS-JST092518 3.35e-01 2002.07.29 2003.10.10 2002.08.28 2012.11.28 137 WI_SSAHASNP 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 6564252 3741499 NT_009458.12_3128829 3.35e-01 2003.02.13 2003.10.10 2002.08.28 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 16151189 3741499 NT_029419.10_18617685 3.35e-01 2003.11.18 2003.11.22 2002.08.28 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 19232743 3741499 CSHL-HuDD-200402.chr12.NT_029419.10_18617685 3.35e-01 2004.02.20 2004.03.04 2002.08.28 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 19935063 3741499 CSHL-HuFF-200402.chr12.NT_029419.10_18617685 3.35e-01 2004.02.21 2004.03.04 2002.08.28 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 20949893 3741499 WGSA-200403-chr12.chr12.NT_029419.10_18617685 3.35e-01 2004.03.19 2004.03.19 2002.08.28 2012.11.28 137 KYUGEN 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 28477759 3741499 QH06775 3.35e-01 2004.07.29 2006.11.02 2002.08.28 2012.11.28 137 ABI 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 38890735 3741499 hCV27475268 3.35e-01 2005.07.16 2005.07.16 2002.08.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 75053555 3741499 ILMN_Human_1M_rs3741499 3.35e-01 2007.08.29 2007.08.29 2002.08.28 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 97231054 3741499 1103649448832 3.35e-01 2008.03.28 2008.03.28 2002.08.28 2012.11.28 137 BGI 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 103050305 3741499 BGI_rs3741499 3.35e-01 2008.06.05 2009.10.21 2002.08.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 111981266 3741499 CEU.trio.12.15.2008_2741447_chr12_54760646 3.35e-01 2008.12.17 2008.12.17 2002.08.28 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 118827970 3741499 NA18507_000071841_NCBI36.1_chr12_54760646 3.35e-01 2009.01.21 2009.01.21 2002.08.28 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 119458469 3741499 KHS1620716 3.35e-01 2009.02.04 2009.02.04 2002.08.28 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 120251168 3741499 NT_029419.11_18617685 3.35e-01 2009.04.10 2009.04.24 2002.08.28 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 137430933 3741499 ENSSNP760570 3.35e-01 2009.05.16 2009.10.15 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 168344855 3741499 NA07022_36_chr12_54760646 3.35e-01 2009.10.01 2009.10.01 2002.08.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 173618079 3741499 Human1M-Duov3_B_rs3741499-128_T_R_1514043743 3.35e-01 2009.10.04 2009.10.04 2002.08.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 175137382 3741499 NA20431_36_chr12_54760646 3.35e-01 2009.10.05 2009.10.05 2002.08.28 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 198225014 3741499 BUSHMAN-chr12-54760645 3.35e-01 2010.03.06 2010.03.06 2002.08.28 2012.11.28 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 208312864 3741499 BCM_CMT_1011-2398347 3.35e-01 2010.03.19 2010.03.19 2002.08.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 225768566 3741499 pilot_1_YRI_7578249_chr12_54760646 3.35e-01 2010.04.22 2010.04.22 2002.08.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 235946035 3741499 pilot_1_CEU_5550664_chr12_54760646 3.35e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 242503516 3741499 pilot_1_CHB+JPT_4388593_chr12_54760646 3.35e-01 2010.05.01 2010.05.01 2002.08.28 2012.11.28 137 BL 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 255141565 3741499 SNP67594_12_54760646 3.35e-01 2010.08.20 2010.08.20 2002.08.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 281408639 3741499 GMI_AK_SNP_5729028 3.35e-01 2010.12.16 2010.12.16 2002.08.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56474379T>C;NG_011529.1:g.5488T>C;NM_001005915.1:c.82+213T>C;NM_001982.3:c.82+213T>C 291256965 3741499 SNP_763323_chr12_54760646 3.35e-01 2011.01.21 2011.01.21 2002.08.28 2012.11.28 137 WI_SSAHASNP 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 6564251 4759229 NT_009458.12_3128728 3.13e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 19240423 4759229 CSHL-HuDD-200402.chr12.NT_029419.10_18617786 3.13e-01 2004.02.20 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 19941449 4759229 CSHL-HuFF-200402.chr12.NT_029419.10_18617786 3.13e-01 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 20943160 4759229 WGSA-200403-chr12.chr12.NT_029419.10_18617786 3.13e-01 2004.03.19 2004.03.19 2003.02.20 2012.11.28 137 KYUGEN 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 28477758 4759229 QH06774 3.13e-01 2004.07.29 2006.11.02 2003.02.20 2012.11.28 137 ABI 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 40199648 4759229 hCV31186729 3.13e-01 2005.07.16 2005.07.16 2003.02.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 75153540 4759229 ILMN_Human_1M_rs4759229 3.13e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 97231055 4759229 1103649448833 3.13e-01 2008.03.28 2008.03.28 2003.02.20 2012.11.28 137 BGI 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 103050306 4759229 BGI_rs4759229 3.13e-01 2008.06.05 2009.10.21 2003.02.20 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 113585956 4759229 NA19240_2008_12_16_2464835_chr12_54760747 3.13e-01 2008.12.18 2008.12.18 2003.02.20 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 118827973 4759229 NA18507_000071842_NCBI36.1_chr12_54760747 3.13e-01 2009.01.21 2009.01.21 2003.02.20 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 119487099 4759229 KHS1649346 3.13e-01 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 120253465 4759229 NT_029419.11_18617786 3.13e-01 2009.04.10 2009.04.24 2003.02.20 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 137430930 4759229 ENSSNP760571 3.13e-01 2009.05.16 2009.10.15 2003.02.20 2012.11.28 137 GMI 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 157507931 4759229 GMI_SNP_68856979 3.13e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 161047229 4759229 HumanOmni1-Quad_v1-0_B_SNP12-54760747-0_B_R_1588223251 3.13e-01 2009.08.07 2009.10.05 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 168344864 4759229 NA07022_36_chr12_54760747 3.13e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 169931934 4759229 NA19240_36_chr12_54760747 3.13e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 173802461 4759229 Human1M-Duov3_B_rs4759229-128_B_F_1514108238 3.13e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 175137385 4759229 NA20431_36_chr12_54760747 3.13e-01 2009.10.05 2009.10.05 2003.02.20 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 198225019 4759229 BUSHMAN-chr12-54760746 3.13e-01 2010.03.06 2010.03.06 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 208239974 4759229 BCM_CMT_1011-2371954 3.13e-01 2010.03.19 2010.03.19 2003.02.20 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 210818665 4759229 CEU.trio.3.2010_121765_chr12_54760747 3.13e-01 2010.03.29 2010.03.29 2003.02.20 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 225768567 4759229 pilot_1_YRI_7578250_chr12_54760747 3.13e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 235946036 4759229 pilot_1_CEU_5550665_chr12_54760747 3.13e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 242503517 4759229 pilot_1_CHB+JPT_4388594_chr12_54760747 3.13e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 BL 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 255141570 4759229 SNP67595_12_54760747 3.13e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 281408640 4759229 GMI_AK_SNP_5729029 3.13e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 291256966 4759229 SNP_763324_chr12_54760747 3.13e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56474480A>G;NG_011529.1:g.5589A>G;NM_001005915.1:c.82+314A>G;NM_001982.3:c.82+314A>G 479378501 4759229 HumanOmni1-Quad_v1-0_C_kgp2381464-0_B_R_1803338073 3.13e-01 2012.01.30 2012.01.30 2003.02.20 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56474636G>A;NG_011529.1:g.5745G>A;NM_001005915.1:c.82+470G>A;NM_001982.3:c.82+470G>A 462884806 186460991 20101123_snps_9052036_chr12_56474636 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56474857A>G;NG_011529.1:g.5966A>G;NM_001005915.1:c.82+691A>G;NM_001982.3:c.82+691A>G 462884807 188543816 20101123_snps_9052037_chr12_56474857 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56475098A>G;NG_011529.1:g.6207A>G;NM_001005915.1:c.82+932A>G;NM_001982.3:c.82+932A>G 337368321 143417561 20100804_snps_9011862_chr12_56475098 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 2065 NC_000012.11:g.56475167A>C;NG_011529.1:g.6276A>C;NM_001005915.1:c.82+1001A>C;NM_001982.3:c.82+1001A>C 118827978 74094520 NA18507_000071843_NCBI36.1_chr12_54761434 2.38e-02 2009.01.21 2009.01.21 2009.02.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56475167A>C;NG_011529.1:g.6276A>C;NM_001005915.1:c.82+1001A>C;NM_001982.3:c.82+1001A>C 161047230 74094520 HumanOmni1-Quad_v1-0_B_SNP12-54761434-0_T_F_1588289710 2.38e-02 2009.08.07 2009.10.05 2009.02.15 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56475167A>C;NG_011529.1:g.6276A>C;NM_001005915.1:c.82+1001A>C;NM_001982.3:c.82+1001A>C 169931947 74094520 NA19240_36_chr12_54761434 2.38e-02 2009.10.01 2009.10.01 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56475167A>C;NG_011529.1:g.6276A>C;NM_001005915.1:c.82+1001A>C;NM_001982.3:c.82+1001A>C 211287916 74094520 YRI.trio.3.2010_1104210_chr12_54761434 2.38e-02 2010.03.30 2010.03.30 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56475167A>C;NG_011529.1:g.6276A>C;NM_001005915.1:c.82+1001A>C;NM_001982.3:c.82+1001A>C 225768568 74094520 pilot_1_YRI_7578251_chr12_54761434 2.38e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56475167A>C;NG_011529.1:g.6276A>C;NM_001005915.1:c.82+1001A>C;NM_001982.3:c.82+1001A>C 479254411 74094520 HumanOmni1-Quad_v1-0_C_kgp19063791-0_T_F_1829914478 2.38e-02 2012.01.30 2012.01.30 2009.02.15 2012.11.28 137 ABI 2065 NC_000012.11:g.56475261_56475262insA;NG_011529.1:g.6370_6371insA;NM_001005915.1:c.82+1095_82+1096insA;NM_001982.3:c.82+1095_82+1096insA 40102855 35837307 hCV33213341 2005.07.16 2005.07.16 2006.03.15 2011.07.08 137 WTCCC 2065 NC_000012.11:g.56475327G>T;NG_011529.1:g.6436G>T;NM_001005915.1:c.82+1161G>T;NM_001982.3:c.82+1161G>T 120255636 77193972 NT_029419.11_18618633 8.20e-03 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56475327G>T;NG_011529.1:g.6436G>T;NM_001005915.1:c.82+1161G>T;NM_001982.3:c.82+1161G>T 462884808 77193972 20101123_snps_9052038_chr12_56475327 8.20e-03 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56475348G>C;NG_011529.1:g.6457G>C;NM_001005915.1:c.82+1182G>C;NM_001982.3:c.82+1182G>C 120251908 76219216 NT_029419.11_18618654 2.11e-02 2009.04.10 2009.04.24 2009.12.01 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56475348G>C;NG_011529.1:g.6457G>C;NM_001005915.1:c.82+1182G>C;NM_001982.3:c.82+1182G>C 235946037 76219216 pilot_1_CEU_5550666_chr12_54761615 2.11e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 137 ILLUMINA-UK 2065 NC_000012.11:g.56475443C>T;NG_011529.1:g.6552C>T;NM_001005915.1:c.82+1277C>T;NM_001982.3:c.82+1277C>T 118827983 74094521 NA18507_000071844_NCBI36.1_chr12_54761710 2.34e-02 2009.01.21 2009.01.21 2009.02.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56475443C>T;NG_011529.1:g.6552C>T;NM_001005915.1:c.82+1277C>T;NM_001982.3:c.82+1277C>T 161047231 74094521 HumanOmni1-Quad_v1-0_B_SNP12-54761710-0_B_F_1588264033 2.34e-02 2009.08.07 2009.10.05 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56475443C>T;NG_011529.1:g.6552C>T;NM_001005915.1:c.82+1277C>T;NM_001982.3:c.82+1277C>T 225768569 74094521 pilot_1_YRI_7578252_chr12_54761710 2.34e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56475443C>T;NG_011529.1:g.6552C>T;NM_001005915.1:c.82+1277C>T;NM_001982.3:c.82+1277C>T 479252581 74094521 HumanOmni1-Quad_v1-0_C_kgp18866006-0_B_F_1829375922 2.34e-02 2012.01.30 2012.01.30 2009.02.15 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56475478C>T;NG_011529.1:g.6587C>T;NM_001005915.1:c.82+1312C>T;NM_001982.3:c.82+1312C>T 118827987 74094522 NA18507_000071845_NCBI36.1_chr12_54761745 2.52e-02 2009.01.21 2009.01.21 2009.02.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56475478C>T;NG_011529.1:g.6587C>T;NM_001005915.1:c.82+1312C>T;NM_001982.3:c.82+1312C>T 161047232 74094522 HumanOmni1-Quad_v1-0_B_SNP12-54761745-0_T_R_1588293390 2.52e-02 2009.08.07 2009.10.05 2009.02.15 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56475478C>T;NG_011529.1:g.6587C>T;NM_001005915.1:c.82+1312C>T;NM_001982.3:c.82+1312C>T 169931962 74094522 NA19240_36_chr12_54761745 2.52e-02 2009.10.01 2009.10.01 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56475478C>T;NG_011529.1:g.6587C>T;NM_001005915.1:c.82+1312C>T;NM_001982.3:c.82+1312C>T 211287918 74094522 YRI.trio.3.2010_1104211_chr12_54761745 2.52e-02 2010.03.30 2010.03.30 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56475478C>T;NG_011529.1:g.6587C>T;NM_001005915.1:c.82+1312C>T;NM_001982.3:c.82+1312C>T 225768570 74094522 pilot_1_YRI_7578253_chr12_54761745 2.52e-02 2010.04.22 2010.04.22 2009.02.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56475478C>T;NG_011529.1:g.6587C>T;NM_001005915.1:c.82+1312C>T;NM_001982.3:c.82+1312C>T 479251185 74094522 HumanOmni1-Quad_v1-0_C_kgp18702276-0_T_R_1829048472 2.52e-02 2012.01.30 2012.01.30 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56475844A>G;NG_011529.1:g.6953A>G;NM_001005915.1:c.82+1678A>G;NM_001982.3:c.82+1678A>G 462884809 185233102 20101123_snps_9052039_chr12_56475844 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA 2065 NC_000012.11:g.56475873C>A;NG_011529.1:g.6982C>A;NM_001005915.1:c.83-1662C>A;NM_001982.3:c.83-1662C>A 161047233 76247537 HumanOmni1-Quad_v1-0_B_SNP12-54762140-0_B_R_1588264309 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56475873C>A;NG_011529.1:g.6982C>A;NM_001005915.1:c.83-1662C>A;NM_001982.3:c.83-1662C>A 479354842 76247537 HumanOmni1-Quad_v1-0_C_kgp22854782-0_B_R_1862707489 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56476051C>A;NG_011529.1:g.7160C>A;NM_001005915.1:c.83-1484C>A;NM_001982.3:c.83-1484C>A 120258251 76015240 NT_029419.11_18619357 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56476115A>G;NG_011529.1:g.7224A>G;NM_001005915.1:c.83-1420A>G;NM_001982.3:c.83-1420A>G 462884810 191209918 20101123_snps_9052040_chr12_56476115 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 2341253 1508211 TSC0759573 2.38e-02 2000.10.20 2006.10.25 2000.10.23 2012.11.28 137 AFFY 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 66064833 1508211 SNP_A-1867032 2.38e-02 2006.10.27 2006.10.27 2000.10.23 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 81516991 1508211 KHS99205 2.38e-02 2007.11.30 2007.11.30 2000.10.23 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 113585965 1508211 NA19240_2008_12_16_2464836_chr12_54762569 2.38e-02 2008.12.18 2008.12.18 2000.10.23 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 118827990 1508211 NA18507_000071846_NCBI36.1_chr12_54762569 2.38e-02 2009.01.21 2009.01.21 2000.10.23 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 161047234 1508211 HumanOmni1-Quad_v1-0_B_SNP12-54762569-0_T_F_1588268754 2.38e-02 2009.08.07 2009.10.05 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 169931979 1508211 NA19240_36_chr12_54762569 2.38e-02 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 198225024 1508211 BUSHMAN-chr12-54762568 2.38e-02 2010.03.06 2010.03.06 2000.10.23 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 225768571 1508211 pilot_1_YRI_7578254_chr12_54762569 2.38e-02 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 244279862 1508211 CVDSNP55v1_A_rs1508211 2.38e-02 2010.06.10 2010.06.10 2000.10.23 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476302G>A;NG_011529.1:g.7411G>A;NM_001005915.1:c.83-1233G>A;NM_001982.3:c.83-1233G>A 479251826 1508211 HumanOmni1-Quad_v1-0_C_kgp18779310-0_T_F_1829202535 2.38e-02 2012.01.30 2012.01.30 2000.10.23 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476326C>T;NG_011529.1:g.7435C>T;NM_001005915.1:c.83-1209C>T;NM_001982.3:c.83-1209C>T 235946038 117570794 pilot_1_CEU_5550667_chr12_54762593 8.20e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476326C>T;NG_011529.1:g.7435C>T;NM_001005915.1:c.83-1209C>T;NM_001982.3:c.83-1209C>T 479872703 117570794 HumanOmni2.5-4v1_D_kgp1194392-0_B_F_1803156064 8.20e-03 2012.01.31 2012.01.31 2010.07.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476326C>T;NG_011529.1:g.7435C>T;NM_001005915.1:c.83-1209C>T;NM_001982.3:c.83-1209C>T 483083225 117570794 HumanOmni2.5-4v1_B_SNP12-54762593-0_B_F_1643823827 8.20e-03 2012.02.02 2012.02.02 2010.07.15 2012.11.28 137 ABI 2065 NC_000012.11:g.56476388_56476389insC;NG_011529.1:g.7497_7498insC;NM_001005915.1:c.83-1147_83-1146insC;NM_001982.3:c.83-1147_83-1146insC 40229874 35195400 hCV33213342 2005.07.16 2005.07.16 2006.03.14 2011.07.08 137 GMI 2065 NC_000012.11:g.56476497C>T;NG_011529.1:g.7606C>T;NM_001005915.1:c.83-1038C>T;NM_001982.3:c.83-1038C>T 281408641 201146123 GMI_AK_SNP_5729030 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2065 NC_000012.11:g.56476532A>G;NG_011529.1:g.7641A>G;NM_001005915.1:c.83-1003A>G;NM_001982.3:c.83-1003A>G 113585971 73338396 NA19240_2008_12_16_2464837_chr12_54762799 2.79e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56476532A>G;NG_011529.1:g.7641A>G;NM_001005915.1:c.83-1003A>G;NM_001982.3:c.83-1003A>G 118827995 73338396 NA18507_000071847_NCBI36.1_chr12_54762799 2.79e-02 2009.01.21 2009.01.21 2009.02.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476532A>G;NG_011529.1:g.7641A>G;NM_001005915.1:c.83-1003A>G;NM_001982.3:c.83-1003A>G 161047235 73338396 HumanOmni1-Quad_v1-0_B_SNP12-54762799-0_T_F_1588284608 2.79e-02 2009.08.07 2009.10.05 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56476532A>G;NG_011529.1:g.7641A>G;NM_001005915.1:c.83-1003A>G;NM_001982.3:c.83-1003A>G 169931994 73338396 NA19240_36_chr12_54762799 2.79e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56476532A>G;NG_011529.1:g.7641A>G;NM_001005915.1:c.83-1003A>G;NM_001982.3:c.83-1003A>G 198225029 73338396 BUSHMAN-chr12-54762798 2.79e-02 2010.03.06 2010.03.06 2009.02.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476532A>G;NG_011529.1:g.7641A>G;NM_001005915.1:c.83-1003A>G;NM_001982.3:c.83-1003A>G 225768572 73338396 pilot_1_YRI_7578255_chr12_54762799 2.79e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476532A>G;NG_011529.1:g.7641A>G;NM_001005915.1:c.83-1003A>G;NM_001982.3:c.83-1003A>G 479254089 73338396 HumanOmni1-Quad_v1-0_C_kgp19030420-0_T_F_1829786740 2.79e-02 2012.01.30 2012.01.30 2009.02.14 2012.11.28 137 HGSV 2065 NC_000012.11:g.56476567A>G;NG_011529.1:g.7676A>G;NM_001005915.1:c.83-968A>G;NM_001982.3:c.83-968A>G 86147770 57237559 Cor18517_SNV_20070510.chr12_54762834 6.09e-02 2007.12.11 2007.12.11 2007.12.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476567A>G;NG_011529.1:g.7676A>G;NM_001005915.1:c.83-968A>G;NM_001982.3:c.83-968A>G 161047236 57237559 HumanOmni1-Quad_v1-0_B_SNP12-54762834-0_T_F_1588284868 6.09e-02 2009.08.07 2009.10.05 2007.12.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476567A>G;NG_011529.1:g.7676A>G;NM_001005915.1:c.83-968A>G;NM_001982.3:c.83-968A>G 211287920 57237559 YRI.trio.3.2010_1104212_chr12_54762834 6.09e-02 2010.03.30 2010.03.30 2007.12.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476567A>G;NG_011529.1:g.7676A>G;NM_001005915.1:c.83-968A>G;NM_001982.3:c.83-968A>G 225768573 57237559 pilot_1_YRI_7578256_chr12_54762834 6.09e-02 2010.04.22 2010.04.22 2007.12.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56476567A>G;NG_011529.1:g.7676A>G;NM_001005915.1:c.83-968A>G;NM_001982.3:c.83-968A>G 479254243 57237559 HumanOmni1-Quad_v1-0_C_kgp19044303-0_T_F_1829839505 6.09e-02 2012.01.30 2012.01.30 2007.12.14 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56476754G>T;NG_011529.1:g.7863G>T;NM_001005915.1:c.83-781G>T;NM_001982.3:c.83-781G>T 120254751 80010141 NT_029419.11_18620060 2.70e-03 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476754G>T;NG_011529.1:g.7863G>T;NM_001005915.1:c.83-781G>T;NM_001982.3:c.83-781G>T 462884811 80010141 20101123_snps_9052041_chr12_56476754 2.70e-03 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56476854_56476855insC;NG_011529.1:g.7963_7964insC;NM_001005915.1:c.83-681_83-680insC;NM_001982.3:c.83-681_83-680insC 499756310 202222293 20110316_indels_chr12_56476854_56476855 1.19e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56476888C>G;NG_011529.1:g.7997C>G;NM_001005915.1:c.83-647C>G;NM_001982.3:c.83-647C>G 120258401 77313500 NT_029419.11_18620194 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56476978_56476979insC;NG_011529.1:g.8087_8088insC;NM_001005915.1:c.83-557_83-556insC;NM_001982.3:c.83-557_83-556insC 97271787 71446532 1103649448829 2008.03.28 2008.03.28 2009.02.13 2011.09.09 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56477033_56477034insC;NG_011529.1:g.8142_8143insC;NM_001005915.1:c.83-502_83-501insC;NM_001982.3:c.83-502_83-501insC 97271788 71446533 1103649448830 2008.03.28 2008.03.28 2009.02.13 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56477191G>A;NG_011529.1:g.8300G>A;NM_001005915.1:c.83-344G>A;NM_001982.3:c.83-344G>A 462884812 187218416 20101123_snps_9052042_chr12_56477191 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2065 NC_000012.11:g.56477343_56477344insA;NG_011529.1:g.8452_8453insA;NM_001005915.1:c.83-192_83-191insA;NM_001982.3:c.83-192_83-191insA 40123457 36094425 hCV33213343 2005.07.16 2005.07.16 2006.03.16 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56477393G>A;NG_011529.1:g.8502G>A;NM_001005915.1:c.83-142G>A;NM_001982.3:c.83-142G>A 462884813 191590515 20101123_snps_9052043_chr12_56477393 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2065 NC_000012.11:g.56477431A>G;NG_011529.1:g.8540A>G;NM_001005915.1:c.83-104A>G;NM_001982.3:c.83-104A>G 198225034 113780367 BUSHMAN-chr12-54763697 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 CLINSEQ_SNP 2065 NC_000012.11:g.56477471G>A;NG_011529.1:g.8580G>A;NM_001005915.1:c.83-64G>A;NM_001982.3:c.83-64G>A 491667105 201081850 SNV-chr12-54763738 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477477C>T;NG_011529.1:g.8586C>T;NM_001005915.1:c.83-58C>T;NM_001982.3:c.83-58C>T 337368325 138339733 20100804_snps_9011866_chr12_56477477 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 3205909 2271195 IMS-JST065993 2.70e-02 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 66155655 2271195 SNP_A-2147706 2.70e-02 2006.10.27 2007.08.14 2001.09.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 76191041 2271195 AFFY_6_1M_SNP_A-2147706 2.70e-02 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 81745154 2271195 KHS134031 2.70e-02 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 HGSV 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 82793225 2271195 Cor19240_SNV_20070510.chr12_54763756 2.70e-02 2007.12.03 2007.12.03 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 113585981 2271195 NA19240_2008_12_16_2464838_chr12_54763756 2.70e-02 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 118827999 2271195 NA18507_000071848_NCBI36.1_chr12_54763756 2.70e-02 2009.01.21 2009.01.21 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 160524920 2271195 HumanOmni1-Quad_v1-0_B_rs2271195-128_T_F_1569327166 2.70e-02 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 169932009 2271195 NA19240_36_chr12_54763756 2.70e-02 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 172758139 2271195 GenomeWideSNP_5_SNP_A-2147706 2.70e-02 2009.10.02 2009.10.02 2001.09.28 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 198225039 2271195 BUSHMAN-chr12-54763755 2.70e-02 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 225768574 2271195 pilot_1_YRI_7578257_chr12_54763756 2.70e-02 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 480495431 2271195 HumanOmni2.5-4v1_B_rs2271195-128_T_F_1767321585 2.70e-02 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 480509789 2271195 HumanOmniExpress-12v1_C_rs2271195-131_T_F_1858056288 2.70e-02 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 481313947 2271195 HumanOmni1-Quad_v1-0_C_rs2271195-131_T_F_1865652130 2.70e-02 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 485045223 2271195 HumanOmni2.5-4v1_D_rs2271195-131_T_F_1858056288 2.70e-02 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477489G>T;NG_011529.1:g.8598G>T;NM_001005915.1:c.83-46G>T;NM_001982.3:c.83-46G>T 491044641 2271195 20110521_exome_552439_chr12_56477489 2.70e-02 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56477509G>T;NG_011529.1:g.8618G>T;NM_001005915.1:c.83-26G>T;NM_001982.3:c.83-26G>T 291256967 138110809 SNP_763325_chr12_54763776 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56477541C>T;NG_011529.1:g.8650C>T;NM_001005915.1:c.89C>T;NM_001982.3:c.89C>T;NP_001005915.1:p.Pro30Leu;NP_001973.2:p.Pro30Leu 74801452 56017157 5838 1.80e-03 2007.07.20 2007.07.20 2007.12.07 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56477541C>T;NG_011529.1:g.8650C>T;NM_001005915.1:c.89C>T;NM_001982.3:c.89C>T;NP_001005915.1:p.Pro30Leu;NP_001973.2:p.Pro30Leu 342359222 56017157 ESP2500-chr12-56477541 1.80e-03 2011.03.26 2011.03.26 2007.12.07 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477541C>T;NG_011529.1:g.8650C>T;NM_001005915.1:c.89C>T;NM_001982.3:c.89C>T;NP_001005915.1:p.Pro30Leu;NP_001973.2:p.Pro30Leu 462884814 56017157 20101123_snps_9052044_chr12_56477541 1.80e-03 2011.07.20 2011.07.20 2007.12.07 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477541C>T;NG_011529.1:g.8650C>T;NM_001005915.1:c.89C>T;NM_001982.3:c.89C>T;NP_001005915.1:p.Pro30Leu;NP_001973.2:p.Pro30Leu 491044642 56017157 20110521_exome_552440_chr12_56477541 1.80e-03 2012.02.22 2012.02.22 2007.12.07 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56477541C>T;NG_011529.1:g.8650C>T;NM_001005915.1:c.89C>T;NM_001982.3:c.89C>T;NP_001005915.1:p.Pro30Leu;NP_001973.2:p.Pro30Leu 491469450 56017157 nonsyn_185676_chr_12_56477541 1.80e-03 2012.03.05 2012.03.05 2007.12.07 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56477541C>T;NG_011529.1:g.8650C>T;NM_001005915.1:c.89C>T;NM_001982.3:c.89C>T;NP_001005915.1:p.Pro30Leu;NP_001973.2:p.Pro30Leu 491667106 56017157 SNV-chr12-54763808 1.80e-03 2012.03.06 2012.03.12 2007.12.07 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56477626G>A;NG_011529.1:g.8735G>A;NM_001005915.1:c.174G>A;NM_001982.3:c.174G>A;NP_001005915.1:p.Val58=;NP_001973.2:p.Val58= 342359223 148902499 ESP2500-chr12-56477626 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56477655C>T;NG_011529.1:g.8764C>T;NM_001005915.1:c.203C>T;NM_001982.3:c.203C>T;NP_001005915.1:p.Thr68Met;NP_001973.2:p.Thr68Met 342359224 142735651 ESP2500-chr12-56477655 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 PJP 2065 NC_000012.11:g.56477669G>A;NC_000012.11:g.56477669G>T;NG_011529.1:g.8778G>A;NG_011529.1:g.8778G>T;NM_001005915.1:c.217G>A;NM_001005915.1:c.217G>T;NM_001982.3:c.217G>A;NM_001982.3:c.217G>T;NP_001005915.1:p.Asp73Asn;NP_001005915.1:p.Asp73Tyr;NP_001973.2:p.Asp73Asn;NP_001973.2:p.Asp73Tyr 291256968 143770796 SNP_763326_chr12_54763936 2011.01.21 2011.01.21 2011.05.09 2012.05.16 137 NHLBI-ESP 2065 NC_000012.11:g.56477669G>A;NC_000012.11:g.56477669G>T;NG_011529.1:g.8778G>A;NG_011529.1:g.8778G>T;NM_001005915.1:c.217G>A;NM_001005915.1:c.217G>T;NM_001982.3:c.217G>A;NM_001982.3:c.217G>T;NP_001005915.1:p.Asp73Asn;NP_001005915.1:p.Asp73Tyr;NP_001973.2:p.Asp73Asn;NP_001973.2:p.Asp73Tyr 342359225 143770796 ESP2500-chr12-56477669 2011.03.26 2011.03.26 2011.05.09 2012.05.16 137 1000GENOMES 2065 NC_000012.11:g.56477683G>A;NG_011529.1:g.8792G>A;NM_001005915.1:c.231G>A;NM_001982.3:c.231G>A;NP_001005915.1:p.Leu77=;NP_001973.2:p.Leu77= 488996441 199806001 20110521_exome_173376_chr12_56477683 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 YUSUKE 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 3205908 2271194 IMS-JST065992 4.20e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 12208384 2271194 chr12.NT_029419.10_18621000 4.20e-01 2003.07.04 2004.04.07 2001.09.28 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 69109877 2271194 PGP04521369 4.20e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 SI_EXO 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 71641614 2271194 NT_029419.11_18621000 4.20e-01 2007.05.07 2008.03.31 2001.09.28 2012.11.28 137 HGSV 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 77297026 2271194 Cor12156_SNV_20070510.chr12_54763961 4.20e-01 2007.10.10 2007.10.12 2001.09.28 2012.11.28 137 HGSV 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 82702030 2271194 Cor19240_SNV_20070510.chr12_54763961 4.20e-01 2007.12.03 2007.12.03 2001.09.28 2012.11.28 137 BGI 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 103050307 2271194 BGI_rs2271194 4.20e-01 2008.06.05 2009.10.21 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 111981274 2271194 CEU.trio.12.15.2008_2741448_chr12_54763961 4.20e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 113585988 2271194 NA19240_2008_12_16_2464839_chr12_54763961 4.20e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 118828001 2271194 NA18507_000071849_NCBI36.1_chr12_54763961 4.20e-01 2009.01.21 2009.01.21 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 157507936 2271194 GMI_SNP_68934456 4.20e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 168344880 2271194 NA07022_36_chr12_54763961 4.20e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 169932024 2271194 NA19240_36_chr12_54763961 4.20e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 175137388 2271194 NA20431_36_chr12_54763961 4.20e-01 2009.10.05 2009.10.05 2001.09.28 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 198225044 2271194 BUSHMAN-chr12-54763960 4.20e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 208019481 2271194 BCM_CMT_1011-2297035 4.20e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 225768575 2271194 pilot_1_YRI_7578258_chr12_54763961 4.20e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 235946039 2271194 pilot_1_CEU_5550668_chr12_54763961 4.20e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 242503518 2271194 pilot_1_CHB+JPT_4388595_chr12_54763961 4.20e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 244288909 2271194 CVDSNP55v1_A_rs2271194 4.20e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 BL 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 255141575 2271194 SNP67596_12_54763961 4.20e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 281408642 2271194 GMI_AK_SNP_5729031 4.20e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 291256969 2271194 SNP_763327_chr12_54763961 4.20e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 491044643 2271194 20110521_exome_552441_chr12_56477694 4.20e-01 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56477694A>T;NG_011529.1:g.8803A>T;NM_001005915.1:c.234+8A>T;NM_001982.3:c.234+8A>T 491667107 2271194 SNV-chr12-54763961 4.20e-01 2012.03.06 2012.03.12 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56477850G>A;NG_011529.1:g.8959G>A;NM_001005915.1:c.234+164G>A;NM_001982.3:c.234+164G>A 462884815 188032649 20101123_snps_9052045_chr12_56477850 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56477851G>A;NG_011529.1:g.8960G>A;NM_001005915.1:c.234+165G>A;NM_001982.3:c.234+165G>A 462884816 190036848 20101123_snps_9052046_chr12_56477851 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56477859G>A;NG_011529.1:g.8968G>A;NM_001005915.1:c.234+173G>A;NM_001982.3:c.234+173G>A 337368326 142878944 20100804_snps_9011867_chr12_56477859 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WTCCC 2065 NC_000012.11:g.56477947G>A;NG_011529.1:g.9056G>A;NM_001005915.1:c.234+261G>A;NM_001982.3:c.234+261G>A 120254341 76491672 NT_029419.11_18621253 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56477998C>A;NG_011529.1:g.9107C>A;NM_001005915.1:c.234+312C>A;NM_001982.3:c.234+312C>A 462884817 182284622 20101123_snps_9052047_chr12_56477998 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 16168987 10876870 NT_029419.10_18621308 4.46e-01 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 16573143 10876870 CSHL-HuAA-200402.chr12.NT_029419.10_18621308 4.46e-01 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 18515827 10876870 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18621308 4.46e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 38947074 10876870 hCV2022152 4.46e-01 2005.07.16 2005.07.16 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 74975623 10876870 ILMN_Human_1M_rs10876870 4.46e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 78165592 10876870 Cor12878_SNV_20070510.chr12_54764269 4.46e-01 2007.10.18 2007.10.18 2004.02.27 2012.11.28 137 HGSV 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 82054775 10876870 Cor18555_SNV_20070510.chr12_54764269 4.46e-01 2007.12.02 2007.12.02 2004.02.27 2012.11.28 137 BGI 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 103050308 10876870 BGI_rs10876870 4.46e-01 2008.06.05 2009.10.21 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 111981283 10876870 CEU.trio.12.15.2008_2741449_chr12_54764269 4.46e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 119646582 10876870 KHS1793329 4.46e-01 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 120252246 10876870 NT_029419.11_18621308 4.46e-01 2009.04.10 2009.04.24 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 157507942 10876870 GMI_SNP_96565523 4.46e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 168344885 10876870 NA07022_36_chr12_54764269 4.46e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 169932038 10876870 NA19240_36_chr12_54764269 4.46e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 170687848 10876870 Human1M-Duov3_B_rs10876870-128_B_R_1513919077 4.46e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 175137391 10876870 NA20431_36_chr12_54764269 4.46e-01 2009.10.05 2009.10.05 2004.02.27 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 198225047 10876870 BUSHMAN-chr12-54764268 4.46e-01 2010.03.06 2010.03.06 2004.02.27 2012.11.28 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 208171130 10876870 BCM_CMT_1011-2347530 4.46e-01 2010.03.19 2010.03.19 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 211287922 10876870 YRI.trio.3.2010_1104213_chr12_54764269 4.46e-01 2010.03.30 2010.03.30 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 225768576 10876870 pilot_1_YRI_7578259_chr12_54764269 4.46e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 235946040 10876870 pilot_1_CEU_5550669_chr12_54764269 4.46e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 242503519 10876870 pilot_1_CHB+JPT_4388596_chr12_54764269 4.46e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 BL 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 255141580 10876870 SNP67597_12_54764269 4.46e-01 2010.08.20 2010.08.20 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 281408643 10876870 GMI_AK_SNP_5729032 4.46e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 291256970 10876870 SNP_763328_chr12_54764269 4.46e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 483083229 10876870 HumanOmni2.5-4v1_B_SNP12-54764269-0_B_R_1635019427 4.46e-01 2012.02.02 2012.02.02 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478002A>C;NG_011529.1:g.9111A>C;NM_001005915.1:c.234+316A>C;NM_001982.3:c.234+316A>C 483149514 10876870 HumanOmni2.5-4v1_D_kgp3320239-0_B_R_1804958147 4.46e-01 2012.02.02 2012.02.02 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478133G>A;NG_011529.1:g.9242G>A;NM_001005915.1:c.234+447G>A;NM_001982.3:c.234+447G>A 337368327 144969061 20100804_snps_9011868_chr12_56478133 1.97e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56478188A>C;NG_011529.1:g.9297A>C;NM_001005915.1:c.234+502A>C;NM_001982.3:c.234+502A>C 462884818 186627711 20101123_snps_9052048_chr12_56478188 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56478220C>T;NG_011529.1:g.9329C>T;NM_001005915.1:c.234+534C>T;NM_001982.3:c.234+534C>T 462884819 191131399 20101123_snps_9052049_chr12_56478220 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2065 NC_000012.11:g.56478382_56478383insA;NG_011529.1:g.9491_9492insA;NM_001005915.1:c.235-397_235-396insA;NM_001982.3:c.235-397_235-396insA 40094837 35810389 hCV33213344 2005.07.16 2005.07.16 2006.03.15 2011.07.08 137 HGSV 2065 NC_000012.11:g.56478383_56478384insAA;NG_011529.1:g.9492_9493insAA;NM_001005915.1:c.235-396_235-395insAA;NM_001982.3:c.235-396_235-395insAA 82317214 60697310 Cor18555_DIV_20070510.chr12_54764664-54764665_1 2007.12.02 2007.12.02 2007.12.16 2012.12.04 137 ABI 2065 NC_000012.11:g.56478383delA;NC_000012.11:g.56478383delAinsAAA;NG_011529.1:g.9492delA;NG_011529.1:g.9492delAinsAAA;NM_001005915.1:c.235-396delA;NM_001005915.1:c.235-396delAinsAAA;NM_001982.3:c.235-396delA;NM_001982.3:c.235-396delAinsAAA 40185429 34576601 hCV33213345 2005.07.16 2005.07.16 2006.03.14 2012.05.16 137 BCMHGSC_JDW 2065 NC_000012.11:g.56478383A>C;NG_011529.1:g.9492A>C;NM_001005915.1:c.235-396A>C;NM_001982.3:c.235-396A>C 89171122 62667961 JWB-0563538 2008.02.28 2008.02.28 2008.03.24 2011.07.08 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56478383delA;NG_011529.1:g.9492delA;NM_001005915.1:c.235-396delA;NM_001982.3:c.235-396delA 95597492 71074898 1104685052985 2008.03.22 2008.12.03 2009.02.13 2011.07.08 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56478383delA;NC_000012.11:g.56478383delAinsAAA;NG_011529.1:g.9492delA;NG_011529.1:g.9492delAinsAAA;NM_001005915.1:c.235-396delA;NM_001005915.1:c.235-396delAinsAAA;NM_001982.3:c.235-396delA;NM_001982.3:c.235-396delAinsAAA 97271789 34576601 1103649448831 2008.03.28 2008.03.28 2006.03.14 2012.05.16 137 SSAHASNP 2065 NC_000012.11:g.56478607G>A;NG_011529.1:g.9716G>A;NM_001005915.1:c.235-172G>A;NM_001982.3:c.235-172G>A 20905165 12817471 WGSA-200403-chr12.chr12.NT_029419.10_18621913 4.58e-02 2004.03.19 2004.03.19 2004.04.05 2011.09.09 137 ABI 2065 NC_000012.11:g.56478607G>A;NG_011529.1:g.9716G>A;NM_001005915.1:c.235-172G>A;NM_001982.3:c.235-172G>A 40136274 12817471 hCV11292982 4.58e-02 2005.07.16 2005.07.16 2004.04.05 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56478607G>A;NG_011529.1:g.9716G>A;NM_001005915.1:c.235-172G>A;NM_001982.3:c.235-172G>A 198225052 12817471 BUSHMAN-chr12-54764873 4.58e-02 2010.03.06 2010.03.06 2004.04.05 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56478607G>A;NG_011529.1:g.9716G>A;NM_001005915.1:c.235-172G>A;NM_001982.3:c.235-172G>A 337368328 12817471 20100804_snps_9011869_chr12_56478607 4.58e-02 2011.03.22 2011.03.22 2004.04.05 2011.09.09 137 ILLUMINA-UK 2065 NC_000012.11:g.56478614A>G;NG_011529.1:g.9723A>G;NM_001005915.1:c.235-165A>G;NM_001982.3:c.235-165A>G 118828006 74928813 NA18507_000071850_NCBI36.1_chr12_54764881 2.38e-02 2009.01.21 2009.01.21 2009.12.01 2011.09.09 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478614A>G;NG_011529.1:g.9723A>G;NM_001005915.1:c.235-165A>G;NM_001982.3:c.235-165A>G 169932053 74928813 NA19240_36_chr12_54764881 2.38e-02 2009.10.01 2009.10.01 2009.12.01 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56478614A>G;NG_011529.1:g.9723A>G;NM_001005915.1:c.235-165A>G;NM_001982.3:c.235-165A>G 198225057 74928813 BUSHMAN-chr12-54764880 2.38e-02 2010.03.06 2010.03.06 2009.12.01 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56478614A>G;NG_011529.1:g.9723A>G;NM_001005915.1:c.235-165A>G;NM_001982.3:c.235-165A>G 337368329 74928813 20100804_snps_9011870_chr12_56478614 2.38e-02 2011.03.22 2011.03.22 2009.12.01 2011.09.09 137 WI_SSAHASNP 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 12210527 7971751 chr12.NT_029419.10_18621964 4.47e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 15525239 7971751 NT_029419.10_18621964 4.47e-01 2003.11.14 2003.11.22 2003.07.11 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 19939116 7971751 CSHL-HuFF-200402.chr12.NT_029419.10_18621964 4.47e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 ABI 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 40143583 7971751 hCV11292985 4.47e-01 2005.07.16 2005.07.16 2003.07.11 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 75044696 7971751 ILMN_Human_1M_rs7971751 4.47e-01 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 80967000 7971751 Cor18507_SNV_20070510.chr12_54764925 4.47e-01 2007.11.27 2007.11.27 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 97311599 7971751 1103649448835 4.47e-01 2008.03.28 2008.03.28 2003.07.11 2012.11.28 137 BGI 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 103050309 7971751 BGI_rs7971751 4.47e-01 2008.06.05 2009.10.21 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 111981290 7971751 CEU.trio.12.15.2008_2741450_chr12_54764925 4.47e-01 2008.12.17 2008.12.17 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 113585997 7971751 NA19240_2008_12_16_2464840_chr12_54764925 4.47e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 118828010 7971751 NA18507_000071851_NCBI36.1_chr12_54764925 4.47e-01 2009.01.21 2009.01.21 2003.07.11 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 119577755 7971751 KHS1740002 4.47e-01 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 143340846 7971751 ENSSNP760573 4.47e-01 2009.06.06 2009.10.19 2003.07.11 2012.11.28 137 GMI 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 157507948 7971751 GMI_SNP_31012833 4.47e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 161047237 7971751 HumanOmni1-Quad_v1-0_B_SNP12-54764925-0_B_R_1588227759 4.47e-01 2009.08.07 2009.10.05 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 168344896 7971751 NA07022_36_chr12_54764925 4.47e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 169932068 7971751 NA19240_36_chr12_54764925 4.47e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 174646734 7971751 Human1M-Duov3_B_rs7971751-128_B_R_1514017904 4.47e-01 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 175137396 7971751 NA20431_36_chr12_54764925 4.47e-01 2009.10.05 2009.10.05 2003.07.11 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 198225064 7971751 BUSHMAN-chr12-54764924 4.47e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 208113221 7971751 BCM_CMT_1011-2328184 4.47e-01 2010.03.19 2010.03.19 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 225768577 7971751 pilot_1_YRI_7578260_chr12_54764925 4.47e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 235946041 7971751 pilot_1_CEU_5550670_chr12_54764925 4.47e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 242503520 7971751 pilot_1_CHB+JPT_4388597_chr12_54764925 4.47e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 BL 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 255141585 7971751 SNP67598_12_54764925 4.47e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 281408644 7971751 GMI_AK_SNP_5729033 4.47e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 291256971 7971751 SNP_763329_chr12_54764925 4.47e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56478658A>C;NG_011529.1:g.9767A>C;NM_001005915.1:c.235-121A>C;NM_001982.3:c.235-121A>C 479459115 7971751 HumanOmni1-Quad_v1-0_C_kgp9427102-0_B_R_1804640462 4.47e-01 2012.01.30 2012.01.30 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478682A>G;NG_011529.1:g.9791A>G;NM_001005915.1:c.235-97A>G;NM_001982.3:c.235-97A>G 113586004 73338402 NA19240_2008_12_16_2464841_chr12_54764949 2.38e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 ILLUMINA-UK 2065 NC_000012.11:g.56478682A>G;NG_011529.1:g.9791A>G;NM_001005915.1:c.235-97A>G;NM_001982.3:c.235-97A>G 118828014 73338402 NA18507_000071852_NCBI36.1_chr12_54764949 2.38e-02 2009.01.21 2009.01.21 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56478682A>G;NG_011529.1:g.9791A>G;NM_001005915.1:c.235-97A>G;NM_001982.3:c.235-97A>G 169932079 73338402 NA19240_36_chr12_54764949 2.38e-02 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56478682A>G;NG_011529.1:g.9791A>G;NM_001005915.1:c.235-97A>G;NM_001982.3:c.235-97A>G 198225069 73338402 BUSHMAN-chr12-54764948 2.38e-02 2010.03.06 2010.03.06 2009.02.14 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56478682A>G;NG_011529.1:g.9791A>G;NM_001005915.1:c.235-97A>G;NM_001982.3:c.235-97A>G 225768578 73338402 pilot_1_YRI_7578261_chr12_54764949 2.38e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 ENSEMBL 2065 NC_000012.11:g.56478684A>C;NG_011529.1:g.9793A>C;NM_001005915.1:c.235-95A>C;NM_001982.3:c.235-95A>C 161535559 77830169 ENSSNP760574 2009.09.25 2010.03.07 2009.12.01 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56478697C>A;NG_011529.1:g.9806C>A;NM_001005915.1:c.235-82C>A;NM_001982.3:c.235-82C>A 198225074 112675254 BUSHMAN-chr12-54764963 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56478802T>C;NG_011529.1:g.9911T>C;NM_001005915.1:c.258T>C;NM_001982.3:c.258T>C;NP_001005915.1:p.Tyr86=;NP_001973.2:p.Tyr86= 488996443 201378576 20110521_exome_173377_chr12_56478802 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56478809G>A;NG_011529.1:g.9918G>A;NM_001005915.1:c.265G>A;NM_001982.3:c.265G>A;NP_001005915.1:p.Val89Met;NP_001973.2:p.Val89Met 120257531 77228285 NT_029419.11_18622115 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56478830A>G;NG_011529.1:g.9939A>G;NM_001005915.1:c.286A>G;NM_001982.3:c.286A>G;NP_001005915.1:p.Thr96Ala;NP_001973.2:p.Thr96Ala 488996445 200856864 20110521_exome_173378_chr12_56478830 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56478846A>G;NG_011529.1:g.9955A>G;NM_001005915.1:c.302A>G;NM_001982.3:c.302A>G;NP_001005915.1:p.Asn101Ser;NP_001973.2:p.Asn101Ser 491667108 201479792 SNV-chr12-54765113 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56478850C>A;NG_011529.1:g.9959C>A;NM_001005915.1:c.306C>A;NM_001982.3:c.306C>A;NP_001005915.1:p.Leu102=;NP_001973.2:p.Leu102= 342359226 142358877 ESP2500-chr12-56478850 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478850C>A;NG_011529.1:g.9959C>A;NM_001005915.1:c.306C>A;NM_001982.3:c.306C>A;NP_001005915.1:p.Leu102=;NP_001973.2:p.Leu102= 488996447 142358877 20110521_exome_173379_chr12_56478850 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56478851C>T;NG_011529.1:g.9960C>T;NM_001005915.1:c.307C>T;NM_001982.3:c.307C>T;NP_001005915.1:p.Arg103Cys;NP_001973.2:p.Arg103Cys 342359227 146486757 ESP2500-chr12-56478851 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 TSC-CSHL 2065 NC_000012.11:g.56478858T>G;NG_011529.1:g.9967T>G;NM_001005915.1:c.314T>G;NM_001982.3:c.314T>G;NP_001005915.1:p.Val105Gly;NP_001973.2:p.Val105Gly 1439498 984896 TSC0302363 2000.09.07 2003.10.10 2000.10.05 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56478859G>A;NG_011529.1:g.9968G>A;NM_001005915.1:c.315G>A;NM_001982.3:c.315G>A;NP_001005915.1:p.Val105=;NP_001973.2:p.Val105= 462884820 185577186 20101123_snps_9052050_chr12_56478859 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56478859G>A;NG_011529.1:g.9968G>A;NM_001005915.1:c.315G>A;NM_001982.3:c.315G>A;NP_001005915.1:p.Val105=;NP_001973.2:p.Val105= 491044644 185577186 20110521_exome_552442_chr12_56478859 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56479008C>T;NG_011529.1:g.10117C>T;NM_001005915.1:c.464C>T;NM_001982.3:c.421+43C>T;NP_001005915.1:p.Ala155Val 491469451 199586304 nonsyn_185677_chr_12_56479008 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 2065 NC_000012.11:g.56479088G>A;NG_011529.1:g.10197G>A;NM_001005915.1:c.544G>A;NM_001982.3:c.421+123G>A;NP_001005915.1:p.Ala182Thr 462884821 188955993 20101123_snps_9052051_chr12_56479088 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56479088G>A;NG_011529.1:g.10197G>A;NM_001005915.1:c.544G>A;NM_001982.3:c.421+123G>A;NP_001005915.1:p.Ala182Thr 491469452 188955993 nonsyn_185678_chr_12_56479088 3.20e-03 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56479214C>T;NG_011529.1:g.10323C>T;NM_001005915.1:c.*118C>T;NM_001982.3:c.421+249C>T 120253949 79581177 NT_029419.11_18622520 8.20e-03 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56479214C>T;NG_011529.1:g.10323C>T;NM_001005915.1:c.*118C>T;NM_001982.3:c.421+249C>T 198225079 79581177 BUSHMAN-chr12-54765480 8.20e-03 2010.03.06 2010.03.06 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56479214C>T;NG_011529.1:g.10323C>T;NM_001005915.1:c.*118C>T;NM_001982.3:c.421+249C>T 337368330 79581177 20100804_snps_9011871_chr12_56479214 8.20e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56479243C>T;NG_011529.1:g.10352C>T;NM_001005915.1:c.*147C>T;NM_001982.3:c.421+278C>T 337368331 148655905 20100804_snps_9011872_chr12_56479243 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56479509C>T;NG_011529.1:g.10618C>T;NM_001005915.1:c.*413C>T;NM_001982.3:c.421+544C>T 462884822 192934821 20101123_snps_9052052_chr12_56479509 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2065 NC_000012.11:g.56479556A>G;NG_011529.1:g.10665A>G;NM_001005915.1:c.*460A>G;NM_001982.3:c.421+591A>G 281408645 201785214 GMI_AK_SNP_5729034 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 ENSEMBL 2065 NC_000012.11:g.56479567A>G;NG_011529.1:g.10676A>G;NM_001005915.1:c.*471A>G;NM_001982.3:c.421+602A>G 133183792 79663475 ENSSNP10616187 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 HGSV 2065 NC_000012.11:g.56479571delA;NC_000012.11:g.56479571delAinsAA;NC_000012.11:g.56479571delAinsAAAA;NC_000012.11:g.56479571delAinsAAAAAAAAAAA;NG_011529.1:g.10680delA;NG_011529.1:g.10680delAinsAA;NG_011529.1:g.10680delAinsAAAA;NG_011529.1:g.10680delAinsAAAAAAAAAAA;NM_001005915.1:c.*475delA;NM_001005915.1:c.*475delAinsAA;NM_001005915.1:c.*475delAinsAAAA;NM_001005915.1:c.*475delAinsAAAAAAAAAAA;NM_001982.3:c.421+606delA;NM_001982.3:c.421+606delAinsAA;NM_001982.3:c.421+606delAinsAAAA;NM_001982.3:c.421+606delAinsAAAAAAAAAAA 80328502 57274370 Cor18507_DIV_20070510.chr12_54765834-54765839_1 2007.11.25 2007.11.25 2007.12.14 2012.05.16 137 HGSV 2065 NC_000012.11:g.56479571delA;NC_000012.11:g.56479571delAinsAA;NC_000012.11:g.56479571delAinsAAAA;NC_000012.11:g.56479571delAinsAAAAAAAAAAA;NG_011529.1:g.10680delA;NG_011529.1:g.10680delAinsAA;NG_011529.1:g.10680delAinsAAAA;NG_011529.1:g.10680delAinsAAAAAAAAAAA;NM_001005915.1:c.*475delA;NM_001005915.1:c.*475delAinsAA;NM_001005915.1:c.*475delAinsAAAA;NM_001005915.1:c.*475delAinsAAAAAAAAAAA;NM_001982.3:c.421+606delA;NM_001982.3:c.421+606delAinsAA;NM_001982.3:c.421+606delAinsAAAA;NM_001982.3:c.421+606delAinsAAAAAAAAAAA 80785161 57274370 Cor12878_DIV_20070510.chr12_54765827-54765839_1 2007.11.26 2007.11.26 2007.12.14 2012.05.16 137 HGSV 2065 NC_000012.11:g.56479571delA;NC_000012.11:g.56479571delAinsAA;NC_000012.11:g.56479571delAinsAAAA;NC_000012.11:g.56479571delAinsAAAAAAAAAAA;NG_011529.1:g.10680delA;NG_011529.1:g.10680delAinsAA;NG_011529.1:g.10680delAinsAAAA;NG_011529.1:g.10680delAinsAAAAAAAAAAA;NM_001005915.1:c.*475delA;NM_001005915.1:c.*475delAinsAA;NM_001005915.1:c.*475delAinsAAAA;NM_001005915.1:c.*475delAinsAAAAAAAAAAA;NM_001982.3:c.421+606delA;NM_001982.3:c.421+606delAinsAA;NM_001982.3:c.421+606delAinsAAAA;NM_001982.3:c.421+606delAinsAAAAAAAAAAA 81667686 57274370 Cor18555_DIV_20070510.chr12_54765827-54765839_1 2007.12.01 2007.12.01 2007.12.14 2012.05.16 137 HGSV 2065 NC_000012.11:g.56479571delA;NC_000012.11:g.56479571delAinsAA;NC_000012.11:g.56479571delAinsAAAA;NC_000012.11:g.56479571delAinsAAAAAAAAAAA;NG_011529.1:g.10680delA;NG_011529.1:g.10680delAinsAA;NG_011529.1:g.10680delAinsAAAA;NG_011529.1:g.10680delAinsAAAAAAAAAAA;NM_001005915.1:c.*475delA;NM_001005915.1:c.*475delAinsAA;NM_001005915.1:c.*475delAinsAAAA;NM_001005915.1:c.*475delAinsAAAAAAAAAAA;NM_001982.3:c.421+606delA;NM_001982.3:c.421+606delAinsAA;NM_001982.3:c.421+606delAinsAAAA;NM_001982.3:c.421+606delAinsAAAAAAAAAAA 82275642 57274370 Cor18555_DIV_20070510.chr12_54765827-54765839_2 2007.12.02 2007.12.02 2007.12.14 2012.05.16 137 HGSV 2065 NC_000012.11:g.56479571delA;NC_000012.11:g.56479571delAinsAA;NC_000012.11:g.56479571delAinsAAAA;NC_000012.11:g.56479571delAinsAAAAAAAAAAA;NG_011529.1:g.10680delA;NG_011529.1:g.10680delAinsAA;NG_011529.1:g.10680delAinsAAAA;NG_011529.1:g.10680delAinsAAAAAAAAAAA;NM_001005915.1:c.*475delA;NM_001005915.1:c.*475delAinsAA;NM_001005915.1:c.*475delAinsAAAA;NM_001005915.1:c.*475delAinsAAAAAAAAAAA;NM_001982.3:c.421+606delA;NM_001982.3:c.421+606delAinsAA;NM_001982.3:c.421+606delAinsAAAA;NM_001982.3:c.421+606delAinsAAAAAAAAAAA 82532142 57274370 Cor19240_DIV_20070510.chr12_54765836-54765839_1 2007.12.03 2007.12.03 2007.12.14 2012.05.16 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56479571delA;NC_000012.11:g.56479571delAinsAA;NC_000012.11:g.56479571delAinsAAAA;NC_000012.11:g.56479571delAinsAAAAAAAAAAA;NG_011529.1:g.10680delA;NG_011529.1:g.10680delAinsAA;NG_011529.1:g.10680delAinsAAAA;NG_011529.1:g.10680delAinsAAAAAAAAAAA;NM_001005915.1:c.*475delA;NM_001005915.1:c.*475delAinsAA;NM_001005915.1:c.*475delAinsAAAA;NM_001005915.1:c.*475delAinsAAAAAAAAAAA;NM_001982.3:c.421+606delA;NM_001982.3:c.421+606delAinsAA;NM_001982.3:c.421+606delAinsAAAA;NM_001982.3:c.421+606delAinsAAAAAAAAAAA 95597493 57274370 1104685052986 2008.03.22 2008.12.03 2007.12.14 2012.05.16 137 ENSEMBL 2065 NC_000012.11:g.56479572G>A;NG_011529.1:g.10681G>A;NM_001005915.1:c.*476G>A;NM_001982.3:c.421+607G>A 133183795 78856154 ENSSNP10616188 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56479825C>T;NG_011529.1:g.10934C>T;NM_001005915.1:c.*729C>T;NM_001982.3:c.422-490C>T 462884823 185231101 20101123_snps_9052053_chr12_56479825 7.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 2065 NC_000012.11:g.56479831C>T;NG_011529.1:g.10940C>T;NM_001005915.1:c.*735C>T;NM_001982.3:c.422-484C>T 85775210 59398518 Cor18517_SNV_20070510.chr12_54766098 6.91e-02 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56479831C>T;NG_011529.1:g.10940C>T;NM_001005915.1:c.*735C>T;NM_001982.3:c.422-484C>T 337368332 59398518 20100804_snps_9011873_chr12_56479831 6.91e-02 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56479846C>A;NG_011529.1:g.10955C>A;NM_001005915.1:c.*750C>A;NM_001982.3:c.422-469C>A 89171126 61938985 JWB-2826298 2008.02.28 2008.02.28 2008.03.24 2011.07.08 137 ENSEMBL 2065 NC_000012.11:g.56479846C>A;NG_011529.1:g.10955C>A;NM_001005915.1:c.*750C>A;NM_001982.3:c.422-469C>A 133183798 61938985 ENSSNP10616189 2009.05.12 2009.05.14 2008.03.24 2011.07.08 137 SC_JCM 2065 NC_000012.11:g.56479848A>C;NG_011529.1:g.10957A>C;NM_001005915.1:c.*752A>C;NM_001982.3:c.422-467A>C 5710515 4307759 NT_009458.11_565462 2003.01.11 2003.10.10 2003.02.20 2012.12.05 137 SSAHASNP 2065 NC_000012.11:g.56479848A>C;NG_011529.1:g.10957A>C;NM_001005915.1:c.*752A>C;NM_001982.3:c.422-467A>C 35270595 4307759 TA-079.chr12_54766115 2005.03.11 2003.02.20 2012.12.05 137 PJP 2065 NC_000012.11:g.56479848_56479850delAAA;NG_011529.1:g.10957_10959delAAA;NM_001005915.1:c.*752_*754delAAA;NM_001982.3:c.422-467_422-465delAAA 294753861 150780861 DIP_191565_chr12_54766115 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 ENSEMBL 2065 NC_000012.11:g.56479849A>C;NG_011529.1:g.10958A>C;NM_001005915.1:c.*753A>C;NM_001982.3:c.422-466A>C 133183801 76091173 ENSSNP10616190 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 ENSEMBL 2065 NC_000012.11:g.56479850A>C;NG_011529.1:g.10959A>C;NM_001005915.1:c.*754A>C;NM_001982.3:c.422-465A>C 133183804 76307931 ENSSNP10616191 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 HGSV 2065 NC_000012.11:g.56479868_56479870delAAA;NC_000012.11:g.56479868_56479870delAAAinsA;NG_011529.1:g.10977_10979delAAA;NG_011529.1:g.10977_10979delAAAinsA;NM_001005915.1:c.*772_*774delAAA;NM_001005915.1:c.*772_*774delAAAinsA;NM_001982.3:c.422-447_422-445delAAA;NM_001982.3:c.422-447_422-445delAAAinsA 81667693 56926853 Cor18555_DIV_20070510.chr12_54766134-54766138_1 2007.12.01 2007.12.01 2007.12.14 2012.05.16 137 HGSV 2065 NC_000012.11:g.56479868_56479870delAAA;NC_000012.11:g.56479868_56479870delAAAinsA;NG_011529.1:g.10977_10979delAAA;NG_011529.1:g.10977_10979delAAAinsA;NM_001005915.1:c.*772_*774delAAA;NM_001005915.1:c.*772_*774delAAAinsA;NM_001982.3:c.422-447_422-445delAAA;NM_001982.3:c.422-447_422-445delAAAinsA 83395704 56926853 Cor18517_DIV_20070510.chr12_54766136-54766138_1 2007.12.04 2007.12.04 2007.12.14 2012.05.16 137 HGSV 2065 NC_000012.11:g.56479868_56479870delAAA;NC_000012.11:g.56479868_56479870delAAAinsA;NG_011529.1:g.10977_10979delAAA;NG_011529.1:g.10977_10979delAAAinsA;NM_001005915.1:c.*772_*774delAAA;NM_001005915.1:c.*772_*774delAAAinsA;NM_001982.3:c.422-447_422-445delAAA;NM_001982.3:c.422-447_422-445delAAAinsA 83492589 56926853 Cor18517_DIV_20070510.chr12_54766136-54766138_2 2007.12.05 2007.12.05 2007.12.14 2012.05.16 137 1000GENOMES 2065 NC_000012.11:g.56479960A>C;NG_011529.1:g.11069A>C;NM_001982.3:c.422-355A>C 225768579 114402294 pilot_1_YRI_7578262_chr12_54766227 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56480035G>C;NG_011529.1:g.11144G>C;NM_001982.3:c.422-280G>C 198225084 113453807 BUSHMAN-chr12-54766301 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 HGSV 2065 NC_000012.11:g.56480055G>A;NG_011529.1:g.11164G>A;NM_001982.3:c.422-260G>A 85717472 60550339 Cor18517_SNV_20070510.chr12_54766322 2007.12.10 2007.12.10 2007.12.16 2011.07.08 137 ILLUMINA 2065 NC_000012.11:g.56480086C>T;NG_011529.1:g.11195C>T;NM_001982.3:c.422-229C>T 161047238 79768661 HumanOmni1-Quad_v1-0_B_SNP12-54766353-0_T_R_1588262192 8.20e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480086C>T;NG_011529.1:g.11195C>T;NM_001982.3:c.422-229C>T 242503521 79768661 pilot_1_CHB+JPT_4388598_chr12_54766353 8.20e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 GMI 2065 NC_000012.11:g.56480086C>T;NG_011529.1:g.11195C>T;NM_001982.3:c.422-229C>T 281408646 79768661 GMI_AK_SNP_5729035 8.20e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480086C>T;NG_011529.1:g.11195C>T;NM_001982.3:c.422-229C>T 479422478 79768661 HumanOmni1-Quad_v1-0_C_kgp6236659-0_T_R_1804690458 8.20e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480100G>C;NG_011529.1:g.11209G>C;NM_001982.3:c.422-215G>C 235946042 117859597 pilot_1_CEU_5550671_chr12_54766367 5.00e-04 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56480280G>A;NG_011529.1:g.11389G>A;NM_001982.3:c.422-35G>A 491667109 199616683 SNV-chr12-54766547 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56480285T>C;NG_011529.1:g.11394T>C;NM_001982.3:c.422-30T>C 198225089 113267229 BUSHMAN-chr12-54766551 0 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480285T>C;NG_011529.1:g.11394T>C;NM_001982.3:c.422-30T>C 488996449 113267229 20110521_exome_173380_chr12_56480285 0 2012.02.13 2012.02.13 2010.07.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480308A>T;NG_011529.1:g.11417A>T;NM_001982.3:c.422-7A>T 225768580 115311663 pilot_1_YRI_7578263_chr12_54766575 2.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480308A>T;NG_011529.1:g.11417A>T;NM_001982.3:c.422-7A>T 481783539 115311663 HumanOmni2.5-4v1_D_kgp18995113-0_B_R_1829651378 2.70e-03 2012.02.01 2012.02.01 2010.07.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480308A>T;NG_011529.1:g.11417A>T;NM_001982.3:c.422-7A>T 483083231 115311663 HumanOmni2.5-4v1_B_SNP12-54766575-0_B_R_1646595139 2.70e-03 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480308A>T;NG_011529.1:g.11417A>T;NM_001982.3:c.422-7A>T 491044645 115311663 20110521_exome_552443_chr12_56480308 2.70e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480349C>T;NG_011529.1:g.11458C>T;NM_001982.3:c.456C>T;NP_001973.2:p.Asn152= 337368333 147412657 20100804_snps_9011874_chr12_56480349 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480349C>T;NG_011529.1:g.11458C>T;NM_001982.3:c.456C>T;NP_001973.2:p.Asn152= 491044646 147412657 20110521_exome_552444_chr12_56480349 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56480350G>A;NG_011529.1:g.11459G>A;NM_001982.3:c.457G>A;NP_001973.2:p.Asp153Asn 342359228 147905731 ESP2500-chr12-56480350 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56480362C>T;NG_011529.1:g.11471C>T;NM_001982.3:c.469C>T;NP_001973.2:p.His157Tyr 342359229 141700623 ESP2500-chr12-56480362 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56480374A>G;NG_011529.1:g.11483A>G;NM_001982.3:c.481A>G;NP_001973.2:p.Ile161Val 462884824 188795493 20101123_snps_9052054_chr12_56480374 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480374A>G;NG_011529.1:g.11483A>G;NM_001982.3:c.481A>G;NP_001973.2:p.Ile161Val 491044647 188795493 20110521_exome_552445_chr12_56480374 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480402G>A;NG_011529.1:g.11511G>A;NM_001982.3:c.509G>A;NP_001973.2:p.Arg170Gln 488996451 200978269 20110521_exome_173381_chr12_56480402 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56480402G>A;NG_011529.1:g.11511G>A;NM_001982.3:c.509G>A;NP_001973.2:p.Arg170Gln 491469453 200978269 nonsyn_185679_chr_12_56480402 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56480469C>T;NG_011529.1:g.11578C>T;NM_001982.3:c.547+29C>T 120255657 75038291 NT_029419.11_18623775 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 WTCCC 2065 NC_000012.11:g.56480474C>A;NG_011529.1:g.11583C>A;NM_001982.3:c.547+34C>A 120251219 79222157 NT_029419.11_18623780 3.30e-02 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480474C>A;NG_011529.1:g.11583C>A;NM_001982.3:c.547+34C>A 161047239 79222157 HumanOmni1-Quad_v1-0_B_SNP12-54766741-0_B_R_1588269439 3.30e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480474C>A;NG_011529.1:g.11583C>A;NM_001982.3:c.547+34C>A 235946043 79222157 pilot_1_CEU_5550672_chr12_54766741 3.30e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480474C>A;NG_011529.1:g.11583C>A;NM_001982.3:c.547+34C>A 479429311 79222157 HumanOmni1-Quad_v1-0_C_kgp6837763-0_B_R_1803303732 3.30e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480474C>A;NG_011529.1:g.11583C>A;NM_001982.3:c.547+34C>A 491044648 79222157 20110521_exome_552446_chr12_56480474 3.30e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56480474C>A;NG_011529.1:g.11583C>A;NM_001982.3:c.547+34C>A 491667110 79222157 SNV-chr12-54766741 3.30e-02 2012.03.06 2012.03.12 2009.12.01 2012.11.28 137 TSC-CSHL 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 1302755 877636 TSC0210471 3.73e-01 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 YUSUKE 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 5003530 877636 IMS-JST177582 3.73e-01 2002.08.12 2003.10.10 2000.10.05 2012.11.28 137 WUGSC_SSAHASNP 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 14461628 877636 chr12.NT_029419.10_18623889 3.73e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 15936412 877636 NT_029419.10_18623889 3.73e-01 2003.11.17 2003.11.22 2000.10.05 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 20969576 877636 WGSA-200403-chr12.chr12.NT_029419.10_18623889 3.73e-01 2004.03.19 2004.03.19 2000.10.05 2012.11.28 137 ABI 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 38885618 877636 hCV2022148 3.73e-01 2005.07.16 2006.11.02 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 65803271 877636 Human1-rs877636 3.73e-01 2006.10.10 2006.10.10 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 74876854 877636 ILMN_Human_1M_rs877636 3.73e-01 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 79819905 877636 Cor18507_SNV_20070510.chr12_54766850 3.73e-01 2007.11.23 2007.11.23 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 82836839 877636 Cor18555_SNV_20070510.chr12_54766850 3.73e-01 2007.12.03 2007.12.03 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 83149569 877636 Cor18956_SNV_20070510.chr12_54766850 3.73e-01 2007.12.04 2007.12.04 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 97231056 877636 1103649448837 3.73e-01 2008.03.28 2008.03.28 2000.10.05 2012.11.28 137 BGI 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 103050310 877636 BGI_rs877636 3.73e-01 2008.06.05 2009.10.21 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 111981298 877636 CEU.trio.12.15.2008_2741451_chr12_54766850 3.73e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 113586011 877636 NA19240_2008_12_16_2464842_chr12_54766850 3.73e-01 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 118828018 877636 NA18507_000071853_NCBI36.1_chr12_54766850 3.73e-01 2009.01.21 2009.01.21 2000.10.05 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 119371432 877636 KHS1533679 3.73e-01 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 120251600 877636 NT_029419.11_18623889 3.73e-01 2009.04.10 2009.04.24 2000.10.05 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 137430921 877636 ENSSNP760576 3.73e-01 2009.05.16 2009.10.15 2000.10.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 157507957 877636 GMI_SNP_146096799 3.73e-01 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 160961333 877636 HumanOmni1-Quad_v1-0_B_rs877636-128_B_F_1513913500 3.73e-01 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 168344912 877636 NA07022_36_chr12_54766850 3.73e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 169932095 877636 NA19240_36_chr12_54766850 3.73e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 174761489 877636 Human1M-Duov3_B_rs877636-128_B_F_1513913500 3.73e-01 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 175137399 877636 NA20431_36_chr12_54766850 3.73e-01 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 198225094 877636 BUSHMAN-chr12-54766849 3.73e-01 2010.03.06 2010.03.06 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 225768581 877636 pilot_1_YRI_7578264_chr12_54766850 3.73e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 235946044 877636 pilot_1_CEU_5550673_chr12_54766850 3.73e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 242503522 877636 pilot_1_CHB+JPT_4388599_chr12_54766850 3.73e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 244313438 877636 CVDSNP55v1_A_rs877636 3.73e-01 2010.06.10 2010.06.10 2000.10.05 2012.11.28 137 BL 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 255141590 877636 SNP67599_12_54766850 3.73e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 281408647 877636 GMI_AK_SNP_5729036 3.73e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 291256972 877636 SNP_763330_chr12_54766850 3.73e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 410955636 877636 Cardio-Metabo_Chip_11395247_A_rs877636 3.73e-01 2011.06.08 2011.06.08 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 481820239 877636 HumanOmni2.5-4v1_B_rs877636-128_B_F_1690751845 3.73e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 481852762 877636 HumanOmniExpress-12v1_C_rs877636-131_B_F_1857541361 3.73e-01 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 482812769 877636 HumanOmni1-Quad_v1-0_C_rs877636-131_B_F_1865606193 3.73e-01 2012.02.02 2012.02.02 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56480583G>A;NG_011529.1:g.11692G>A;NM_001982.3:c.547+143G>A 485704711 877636 HumanOmni2.5-4v1_D_rs877636-131_B_F_1857541361 3.73e-01 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 KWOK 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 888165 705696 OVLP-000804-88960 2.38e-01 2000.09.01 2003.10.10 2000.10.04 2012.11.28 137 TSC-CSHL 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 1335270 705696 TSC0180285 2.38e-01 2000.09.06 2003.10.10 2000.10.04 2012.11.28 137 KWOK 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 1984857 705696 OVLP-000925-53934 2.38e-01 2000.10.06 2003.10.10 2000.10.04 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 2520189 705696 AC025162.13_3208 2.38e-01 2000.11.03 2003.10.10 2000.10.04 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 3754321 705696 AC034102.20_48520 2.38e-01 2001.09.25 2003.10.10 2000.10.04 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 4137013 705696 AC025162.31_107845 2.38e-01 2001.10.15 2003.10.10 2000.10.04 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 89171127 705696 JWB-0563539 2.38e-01 2008.02.28 2008.02.28 2000.10.04 2012.11.28 137 BGI 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 103050311 705696 BGI_rs705696 2.38e-01 2008.06.05 2009.10.21 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 111981306 705696 CEU.trio.12.15.2008_2741452_chr12_54766915 2.38e-01 2008.12.17 2008.12.17 2000.10.04 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 133183807 705696 ENSSNP5731555 2.38e-01 2009.05.12 2009.05.14 2000.10.04 2012.11.28 137 GMI 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 157507963 705696 GMI_SNP_31059962 2.38e-01 2009.06.25 2009.06.25 2000.10.04 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 168344920 705696 NA07022_36_chr12_54766915 2.38e-01 2009.10.01 2009.10.01 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 225768582 705696 pilot_1_YRI_7578265_chr12_54766915 2.38e-01 2010.04.22 2010.04.22 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 235946045 705696 pilot_1_CEU_5550674_chr12_54766915 2.38e-01 2010.05.01 2010.05.01 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 242503523 705696 pilot_1_CHB+JPT_4388600_chr12_54766915 2.38e-01 2010.05.01 2010.05.01 2000.10.04 2012.11.28 137 GMI 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 281408648 705696 GMI_AK_SNP_5729037 2.38e-01 2010.12.16 2010.12.16 2000.10.04 2012.11.28 137 PJP 2065 NC_000012.11:g.56480648G>A;NG_011529.1:g.11757G>A;NM_001982.3:c.547+208G>A 291256973 705696 SNP_763331_chr12_54766915 2.38e-01 2011.01.21 2011.01.21 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480686G>A;NG_011529.1:g.11795G>A;NM_001982.3:c.547+246G>A 462884825 181276733 20101123_snps_9052055_chr12_56480686 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2065 NC_000012.11:g.56480766A>T;NG_011529.1:g.11875A>T;NM_001982.3:c.547+326A>T 198225097 112578440 BUSHMAN-chr12-54767032 6.00e-03 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480766A>T;NG_011529.1:g.11875A>T;NM_001982.3:c.547+326A>T 225768583 112578440 pilot_1_YRI_7578266_chr12_54767033 6.00e-03 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 ABI 2065 NC_000012.11:g.56480920_56480921insA;NG_011529.1:g.12029_12030insA;NM_001982.3:c.548-441_548-440insA 40148285 33927060 hCV33213352 2005.07.16 2005.07.16 2006.03.13 2011.09.09 137 ABI 2065 NC_000012.11:g.56480920_56480921insA;NG_011529.1:g.12029_12030insA;NM_001982.3:c.548-441_548-440insA 40232215 33927060 hCV33213351 2005.07.16 2005.07.16 2006.03.13 2011.09.09 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56480920_56480921insA;NG_011529.1:g.12029_12030insA;NM_001982.3:c.548-441_548-440insA 97271790 33927060 1103649448836 2008.03.28 2008.03.28 2006.03.13 2011.09.09 137 ENSEMBL 2065 NC_000012.11:g.56480920C>A;NG_011529.1:g.12029C>A;NM_001982.3:c.548-441C>A 133183810 79573246 ENSSNP10616193 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56480921_56480922insA;NC_000012.11:g.56480921_56480922insAA;NG_011529.1:g.12030_12031insA;NG_011529.1:g.12030_12031insAA;NM_001982.3:c.548-440_548-439insA;NM_001982.3:c.548-440_548-439insAA 95597495 71074900 1104685052988 2008.03.22 2008.12.03 2009.02.13 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56480921delA;NG_011529.1:g.12030delA;NM_001982.3:c.548-440delA 99922748 71804115 INDEL_GP36_2007a_4888_0 2008.05.06 2008.05.06 2009.02.13 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56480921_56480922insA;NC_000012.11:g.56480921_56480922insAA;NG_011529.1:g.12030_12031insA;NG_011529.1:g.12030_12031insAA;NM_001982.3:c.548-440_548-439insA;NM_001982.3:c.548-440_548-439insAA 101363639 71074900 INDEL_GP36_2008a_2927854_0 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56480921_56480922insA;NC_000012.11:g.56480921_56480922insAA;NG_011529.1:g.12030_12031insA;NG_011529.1:g.12030_12031insAA;NM_001982.3:c.548-440_548-439insA;NM_001982.3:c.548-440_548-439insAA 101988240 71074900 INDEL_GP36_2008a_1562976_0 2008.05.18 2008.05.18 2009.02.13 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56480921_56480922insA;NC_000012.11:g.56480921_56480922insAA;NG_011529.1:g.12030_12031insA;NG_011529.1:g.12030_12031insAA;NM_001982.3:c.548-440_548-439insA;NM_001982.3:c.548-440_548-439insAA 102104263 71074900 INDEL_GP36_2008a_2921621_0 2008.05.18 2008.05.18 2009.02.13 2012.11.28 137 PJP 2065 NC_000012.11:g.56480921delA;NG_011529.1:g.12030delA;NM_001982.3:c.548-440delA 294753862 71804115 DIP_191566_chr12_54767188 2011.01.22 2011.01.22 2009.02.13 2011.07.08 137 PJP 2065 NC_000012.11:g.56480921_56480922insA;NC_000012.11:g.56480921_56480922insAA;NG_011529.1:g.12030_12031insA;NG_011529.1:g.12030_12031insAA;NM_001982.3:c.548-440_548-439insA;NM_001982.3:c.548-440_548-439insAA 294753863 71074900 DIP_191567_chr12_54767204 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 PJP 2065 NC_000012.11:g.56480921_56480922insA;NC_000012.11:g.56480921_56480922insAA;NG_011529.1:g.12030_12031insA;NG_011529.1:g.12030_12031insAA;NM_001982.3:c.548-440_548-439insA;NM_001982.3:c.548-440_548-439insAA 294753864 71074900 DIP_191568_chr12_54767205 2011.01.22 2011.01.22 2009.02.13 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56480923A>C;NG_011529.1:g.12032A>C;NM_001982.3:c.548-438A>C 133183813 80193421 ENSSNP10616194 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 DEVINE_LAB 2065 NC_000012.11:g.56480932_56480933insA;NC_000012.11:g.56480932_56480933insAA;NG_011529.1:g.12041_12042insA;NG_011529.1:g.12041_12042insAA;NM_001982.3:c.548-429_548-428insA;NM_001982.3:c.548-429_548-428insAA 101430709 66579386 INDEL_GP36_2008a_2903056_0 2008.05.17 2008.05.17 2009.02.04 2012.05.16 137 DEVINE_LAB 2065 NC_000012.11:g.56480932_56480933insA;NC_000012.11:g.56480932_56480933insAA;NG_011529.1:g.12041_12042insA;NG_011529.1:g.12041_12042insAA;NM_001982.3:c.548-429_548-428insA;NM_001982.3:c.548-429_548-428insAA 102558141 66579386 INDEL_GP36_2008a_1842016_0 2008.05.18 2008.05.18 2009.02.04 2012.05.16 137 GMI 2065 NC_000012.11:g.56480943T>C;NG_011529.1:g.12052T>C;NM_001982.3:c.548-418T>C 281408649 200428261 GMI_AK_SNP_5729038 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 2065 NC_000012.11:g.56480943delT;NG_011529.1:g.12052delT;NM_001982.3:c.548-418delT 327441878 147318774 JPTCHB_chr12_54767209_indel 2.75e-02 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480943delT;NG_011529.1:g.12052delT;NM_001982.3:c.548-418delT 499756314 147318774 20110316_indels_chr12_56480942_56480942 2.75e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56480955A>G;NG_011529.1:g.12064A>G;NM_001982.3:c.548-406A>G 462884826 183933151 20101123_snps_9052056_chr12_56480955 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56481013A>G;NG_011529.1:g.12122A>G;NM_001982.3:c.548-348A>G 337368335 145174737 20100804_snps_9011876_chr12_56481013 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56481040C>T;NG_011529.1:g.12149C>T;NM_001982.3:c.548-321C>T 337368336 150930307 20100804_snps_9011877_chr12_56481040 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 18501783 12227040 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18624424 2.66e-02 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 74968893 12227040 ILMN_Human_1M_rs12227040 2.66e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 119760742 12227040 KHS1836346 2.66e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 120256248 12227040 NT_029419.11_18624424 2.66e-02 2009.04.10 2009.04.24 2004.02.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 161047240 12227040 HumanOmni1-Quad_v1-0_B_SNP12-54767385-0_T_F_1588271730 2.66e-02 2009.08.07 2009.10.05 2004.02.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 171943843 12227040 Human1M-Duov3_B_rs12227040-128_T_F_1513923541 2.66e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 242503524 12227040 pilot_1_CHB+JPT_4388601_chr12_54767385 2.66e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 281408650 12227040 GMI_AK_SNP_5729039 2.66e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 291256974 12227040 SNP_763332_chr12_54767385 2.66e-02 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56481118G>A;NG_011529.1:g.12227G>A;NM_001982.3:c.548-243G>A 479389268 12227040 HumanOmni1-Quad_v1-0_C_kgp3318750-0_T_F_1803368248 2.66e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56481305delA;NG_011529.1:g.12414delA;NM_001982.3:c.548-56delA 101116054 67881474 INDEL_GP36_2008a_2629734_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481305delA;NG_011529.1:g.12414delA;NM_001982.3:c.548-56delA 101116057 67881474 INDEL_GP36_2008a_2629734_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481305delA;NG_011529.1:g.12414delA;NM_001982.3:c.548-56delA 101116060 67881474 INDEL_GP36_2008a_2629734_2 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481305delA;NG_011529.1:g.12414delA;NM_001982.3:c.548-56delA 101116061 67881474 INDEL_GP36_2008a_2629734_3 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56481334C>G;NG_011529.1:g.12443C>G;NM_001982.3:c.548-27C>G 242503525 116960611 pilot_1_CHB+JPT_4388602_chr12_54767601 1.74e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481334C>G;NG_011529.1:g.12443C>G;NM_001982.3:c.548-27C>G 491044649 116960611 20110521_exome_552447_chr12_56481334 1.74e-02 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56481334C>G;NG_011529.1:g.12443C>G;NM_001982.3:c.548-27C>G 491667111 116960611 SNV-chr12-54767601 1.74e-02 2012.03.06 2012.03.12 2010.07.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481345C>T;NG_011529.1:g.12454C>T;NM_001982.3:c.548-16C>T 488996453 199957175 20110521_exome_173382_chr12_56481345 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481389G>A;NG_011529.1:g.12498G>A;NM_001982.3:c.576G>A;NP_001973.2:p.Gly192= 462884827 188312953 20101123_snps_9052057_chr12_56481389 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481389G>A;NG_011529.1:g.12498G>A;NM_001982.3:c.576G>A;NP_001973.2:p.Gly192= 491044650 188312953 20110521_exome_552448_chr12_56481389 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56481406G>T;NG_011529.1:g.12515G>T;NM_001982.3:c.593G>T;NP_001973.2:p.Gly198Val 342359230 150454821 ESP2500-chr12-56481406 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 PJP 2065 NC_000012.11:g.56481411G>A;NG_011529.1:g.12520G>A;NM_001982.3:c.598G>A;NP_001973.2:p.Glu200Lys 291256975 146860437 SNP_763333_chr12_54767678 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56481424C>T;NG_011529.1:g.12533C>T;NM_001982.3:c.611C>T;NP_001973.2:p.Thr204Ile 74803406 56107455 5611 2.30e-03 2007.07.20 2007.07.20 2007.12.07 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481424C>T;NG_011529.1:g.12533C>T;NM_001982.3:c.611C>T;NP_001973.2:p.Thr204Ile 337368337 56107455 20100804_snps_9011878_chr12_56481424 2.30e-03 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56481424C>T;NG_011529.1:g.12533C>T;NM_001982.3:c.611C>T;NP_001973.2:p.Thr204Ile 342359231 56107455 ESP2500-chr12-56481424 2.30e-03 2011.03.26 2011.03.26 2007.12.07 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481424C>T;NG_011529.1:g.12533C>T;NM_001982.3:c.611C>T;NP_001973.2:p.Thr204Ile 491044651 56107455 20110521_exome_552449_chr12_56481424 2.30e-03 2012.02.22 2012.02.22 2007.12.07 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56481424C>T;NG_011529.1:g.12533C>T;NM_001982.3:c.611C>T;NP_001973.2:p.Thr204Ile 491469454 56107455 nonsyn_185680_chr_12_56481424 2.30e-03 2012.03.05 2012.03.05 2007.12.07 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56481436_56481437insA;NG_011529.1:g.12545_12546insA;NM_001982.3:c.613+10_613+11insA 102616297 67442526 INDEL_GP36_2008a_2627013_0 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481436_56481437insA;NG_011529.1:g.12545_12546insA;NM_001982.3:c.613+10_613+11insA 102616299 67442526 INDEL_GP36_2008a_2627013_1 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 ILLUMINA 2065 NC_000012.11:g.56481448A>G;NG_011529.1:g.12557A>G;NM_001982.3:c.613+22A>G 161047241 75611093 HumanOmni1-Quad_v1-0_B_SNP12-54767715-0_B_R_1588247703 3.20e-03 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481448A>G;NG_011529.1:g.12557A>G;NM_001982.3:c.613+22A>G 337368338 75611093 20100804_snps_9011879_chr12_56481448 3.20e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56481448A>G;NG_011529.1:g.12557A>G;NM_001982.3:c.613+22A>G 479254146 75611093 HumanOmni1-Quad_v1-0_C_kgp19035181-0_B_R_1829805263 3.20e-03 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481448A>G;NG_011529.1:g.12557A>G;NM_001982.3:c.613+22A>G 491044652 75611093 20110521_exome_552450_chr12_56481448 3.20e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481575A>G;NG_011529.1:g.12684A>G;NM_001982.3:c.614-4A>G 488996455 202162033 20110521_exome_173383_chr12_56481575 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481650G>A;NG_011529.1:g.12759G>A;NM_001982.3:c.685G>A;NP_001973.2:p.Asp229Asn 488996457 201079200 20110521_exome_173384_chr12_56481650 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56481659delG;NG_011529.1:g.12768delG;NM_001982.3:c.694delG;NP_001973.2:p.Ala232Profs 100859734 67617070 INDEL_GP36_2008a_2785707_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481659delG;NG_011529.1:g.12768delG;NM_001982.3:c.694delG;NP_001973.2:p.Ala232Profs 100859736 67617070 INDEL_GP36_2008a_2785707_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481659delG;NG_011529.1:g.12768delG;NM_001982.3:c.694delG;NP_001973.2:p.Ala232Profs 100859739 67617070 INDEL_GP36_2008a_2785707_2 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481659delG;NG_011529.1:g.12768delG;NM_001982.3:c.694delG;NP_001973.2:p.Ala232Profs 100859742 67617070 INDEL_GP36_2008a_2785707_3 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481659delG;NG_011529.1:g.12768delG;NM_001982.3:c.694delG;NP_001973.2:p.Ala232Profs 100859746 67617070 INDEL_GP36_2008a_2785707_4 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481659delG;NG_011529.1:g.12768delG;NM_001982.3:c.694delG;NP_001973.2:p.Ala232Profs 100859747 67617070 INDEL_GP36_2008a_2785707_5 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 PJP 2065 NC_000012.11:g.56481659G>T;NG_011529.1:g.12768G>T;NM_001982.3:c.694G>T;NP_001973.2:p.Ala232Ser 291256976 140656187 SNP_763334_chr12_54767926 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 WTCCC 2065 NC_000012.11:g.56481661C>T;NG_011529.1:g.12770C>T;NM_001982.3:c.696C>T;NP_001973.2:p.Ala232= 120257903 79638498 NT_029419.11_18624967 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56481728A>G;NG_011529.1:g.12837A>G;NM_001982.3:c.732+31A>G 488996459 200343222 20110521_exome_173385_chr12_56481728 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481735G>C;NG_011529.1:g.12844G>C;NM_001982.3:c.732+38G>C 225768584 77365107 pilot_1_YRI_7578267_chr12_54768002 7.80e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481735G>C;NG_011529.1:g.12844G>C;NM_001982.3:c.732+38G>C 491044653 77365107 20110521_exome_552451_chr12_56481735 7.80e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56481735G>C;NG_011529.1:g.12844G>C;NM_001982.3:c.732+38G>C 491667112 77365107 SNV-chr12-54768002 7.80e-03 2012.03.06 2012.03.12 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481775A>G;NG_011529.1:g.12884A>G;NM_001982.3:c.733-30A>G 235946048 78663322 pilot_1_CEU_5550677_chr12_54768042 7.30e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56481775A>G;NG_011529.1:g.12884A>G;NM_001982.3:c.733-30A>G 491044654 78663322 20110521_exome_552452_chr12_56481775 7.30e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56481775A>G;NG_011529.1:g.12884A>G;NM_001982.3:c.733-30A>G 491667113 78663322 SNV-chr12-54768042 7.30e-03 2012.03.06 2012.03.12 2009.12.01 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56481800delC;NG_011529.1:g.12909delC;NM_001982.3:c.733-5delC 100442134 66581925 INDEL_GP36_2008a_2663337_0 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481800delC;NG_011529.1:g.12909delC;NM_001982.3:c.733-5delC 100442136 66581925 INDEL_GP36_2008a_2663337_1 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481800delC;NG_011529.1:g.12909delC;NM_001982.3:c.733-5delC 100442140 66581925 INDEL_GP36_2008a_2663337_2 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481800delC;NG_011529.1:g.12909delC;NM_001982.3:c.733-5delC 100442143 66581925 INDEL_GP36_2008a_2663337_3 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 100570460 66493360 INDEL_GP36_2008a_2739117_0 2008.05.16 2008.05.16 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 100570462 66493360 INDEL_GP36_2008a_2739117_1 2008.05.16 2008.05.16 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 100570465 66493360 INDEL_GP36_2008a_2739117_2 2008.05.16 2008.05.16 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 100570470 66493360 INDEL_GP36_2008a_2739117_3 2008.05.16 2008.05.16 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 100570472 66493360 INDEL_GP36_2008a_2739117_4 2008.05.16 2008.05.16 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 100570475 66493360 INDEL_GP36_2008a_2739117_5 2008.05.16 2008.05.16 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 102118170 66493360 INDEL_GP36_2008a_2739099_0 2008.05.18 2008.05.18 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 102118173 66493360 INDEL_GP36_2008a_2739099_1 2008.05.18 2008.05.18 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 102118174 66493360 INDEL_GP36_2008a_2739099_2 2008.05.18 2008.05.18 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 102118178 66493360 INDEL_GP36_2008a_2739099_3 2008.05.18 2008.05.18 2009.02.03 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56481868delA;NG_011529.1:g.12977delA;NM_001982.3:c.796delA;NP_001973.2:p.Asn266Thrfs 102118181 66493360 INDEL_GP36_2008a_2739099_4 2008.05.18 2008.05.18 2009.02.03 2012.05.11 137 NHLBI-ESP 2065 NC_000012.11:g.56481925G>A;NG_011529.1:g.13034G>A;NM_001982.3:c.853G>A;NP_001973.2:p.Val285Ile 342359232 149635848 ESP2500-chr12-56481925 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56481925G>A;NG_011529.1:g.13034G>A;NM_001982.3:c.853G>A;NP_001973.2:p.Val285Ile 491469455 149635848 nonsyn_185681_chr_12_56481925 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56481941G>A;NG_011529.1:g.13050G>A;NM_001982.3:c.869G>A;NP_001973.2:p.Cys290Tyr 342359233 143406438 ESP2500-chr12-56481941 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481943_56481944insC;NG_011529.1:g.13052_13053insC;NM_001982.3:c.871_872insC;NP_001973.2:p.Pro291delinsProProfs 102637311 66487818 INDEL_GP36_2008a_2630173_0 2008.05.18 2008.05.18 2009.02.03 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481943_56481944insC;NG_011529.1:g.13052_13053insC;NM_001982.3:c.871_872insC;NP_001973.2:p.Pro291delinsProProfs 102637312 66487818 INDEL_GP36_2008a_2630173_1 2008.05.18 2008.05.18 2009.02.03 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56481943_56481944insC;NG_011529.1:g.13052_13053insC;NM_001982.3:c.871_872insC;NP_001973.2:p.Pro291delinsProProfs 102637314 66487818 INDEL_GP36_2008a_2630173_2 2008.05.18 2008.05.18 2009.02.03 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56481966G>A;NG_011529.1:g.13075G>A;NM_001982.3:c.874+20G>A 488996461 199526131 20110521_exome_173386_chr12_56481966 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482107C>T;NG_011529.1:g.13216C>T;NM_001982.3:c.874+161C>T 462884828 180672570 20101123_snps_9052058_chr12_56482107 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 2065 NC_000012.11:g.56482151delA;NG_011529.1:g.13260delA;NM_001982.3:c.875-176delA 101014341 67116868 INDEL_GP36_2008a_2833455_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56482151delA;NG_011529.1:g.13260delA;NM_001982.3:c.875-176delA 101014344 67116868 INDEL_GP36_2008a_2833455_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 YUSUKE 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 3234837 2292239 IMS-JST044922 3.34e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WUGSC_SSAHASNP 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 14530262 2292239 chr12.NT_029419.10_18625486 3.34e-01 2003.11.07 2003.11.22 2001.09.28 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 20920690 2292239 WGSA-200403-chr12.chr12.NT_029419.10_18625486 3.34e-01 2004.03.19 2004.03.19 2001.09.28 2012.11.28 137 ABI 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 38897791 2292239 hCV15967467 3.34e-01 2005.07.16 2006.11.02 2001.09.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 66198698 2292239 SNP_A-2275996 3.34e-01 2006.10.27 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 75142026 2292239 ILMN_Human_1M_rs2292239 3.34e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 76283688 2292239 AFFY_6_1M_SNP_A-2275996 3.34e-01 2007.08.30 2010.03.07 2001.09.28 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 81754018 2292239 KHS135374 3.34e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 HGSV 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 83760618 2292239 Cor18555_SNV_20070510.chr12_54768447 3.34e-01 2007.12.05 2007.12.05 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 97231057 2292239 1103649448840 3.34e-01 2008.03.28 2008.03.28 2001.09.28 2012.11.28 137 BGI 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 103050312 2292239 BGI_rs2292239 3.34e-01 2008.06.05 2009.10.21 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 111981315 2292239 CEU.trio.12.15.2008_2741453_chr12_54768447 3.34e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 113586017 2292239 NA19240_2008_12_16_2464843_chr12_54768447 3.34e-01 2008.12.18 2008.12.18 2001.09.28 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 118828021 2292239 NA18507_000071854_NCBI36.1_chr12_54768447 3.34e-01 2009.01.21 2009.01.21 2001.09.28 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 120253130 2292239 NT_029419.11_18625486 3.34e-01 2009.04.10 2009.04.24 2001.09.28 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 137430918 2292239 ENSSNP760577 3.34e-01 2009.05.16 2009.10.15 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 157507974 2292239 GMI_SNP_30620474 3.34e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 160530935 2292239 HumanOmni1-Quad_v1-0_B_rs2292239-128_B_R_1514096479 3.34e-01 2009.08.06 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 168344931 2292239 NA07022_36_chr12_54768447 3.34e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 169932109 2292239 NA19240_36_chr12_54768447 3.34e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 173118982 2292239 GenomeWideSNP_5_SNP_A-2275996 3.34e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 173261643 2292239 Human1M-Duov3_B_rs2292239-128_B_R_1514096479 3.34e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 175137404 2292239 NA20431_36_chr12_54768447 3.34e-01 2009.10.05 2009.10.05 2001.09.28 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 198225103 2292239 BUSHMAN-chr12-54768446 3.34e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 208027788 2292239 BCM_CMT_1011-2299799 3.34e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 225768586 2292239 pilot_1_YRI_7578269_chr12_54768447 3.34e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 235946049 2292239 pilot_1_CEU_5550678_chr12_54768447 3.34e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 242503526 2292239 pilot_1_CHB+JPT_4388603_chr12_54768447 3.34e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 244289525 2292239 CVDSNP55v1_A_rs2292239 3.34e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 BL 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 255141595 2292239 SNP67600_12_54768447 3.34e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 281408651 2292239 GMI_AK_SNP_5729040 3.34e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 291256977 2292239 SNP_763335_chr12_54768447 3.34e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 410921737 2292239 Cardio-Metabo_Chip_11395247_A_rs2292239 3.34e-01 2011.06.07 2011.06.07 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 480514386 2292239 HumanOmni2.5-4v1_B_rs2292239-128_B_R_1616887298 3.34e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 480528635 2292239 HumanOmniExpress-12v1_C_rs2292239-131_B_R_1853429438 3.34e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 481338135 2292239 HumanOmni1-Quad_v1-0_C_rs2292239-131_B_R_1865534601 3.34e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 485054579 2292239 HumanOmni2.5-4v1_D_rs2292239-131_B_R_1853429438 3.34e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56482180T>G;NG_011529.1:g.13289T>G;NM_001982.3:c.875-147T>G 491469456 2292239 .GWAS._185682_chr_12_56482180 3.34e-01 2012.03.05 2012.03.05 2001.09.28 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56482237G>T;NG_011529.1:g.13346G>T;NM_001982.3:c.875-90G>T 198225109 113975857 BUSHMAN-chr12-54768503 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 NHLBI-ESP 2065 NC_000012.11:g.56482393A>G;NG_011529.1:g.13502A>G;NM_001982.3:c.941A>G;NP_001973.2:p.Lys314Arg 342359234 137870123 ESP2500-chr12-56482393 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56482454G>T;NG_011529.1:g.13563G>T;NM_001982.3:c.988+14G>T 462884829 187277789 20101123_snps_9052059_chr12_56482454 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482454G>T;NG_011529.1:g.13563G>T;NM_001982.3:c.988+14G>T 491044655 187277789 20110521_exome_552453_chr12_56482454 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482515C>T;NG_011529.1:g.13624C>T;NM_001982.3:c.989-17C>T 337368339 145873700 20100804_snps_9011880_chr12_56482515 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482515C>T;NG_011529.1:g.13624C>T;NM_001982.3:c.989-17C>T 491044656 145873700 20110521_exome_552454_chr12_56482515 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482614C>T;NG_011529.1:g.13723C>T;NM_001982.3:c.1071C>T;NP_001973.2:p.Ile357= 337368340 140648008 20100804_snps_9011881_chr12_56482614 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56482614C>T;NG_011529.1:g.13723C>T;NM_001982.3:c.1071C>T;NP_001973.2:p.Ile357= 342359235 140648008 ESP2500-chr12-56482614 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482614C>T;NG_011529.1:g.13723C>T;NM_001982.3:c.1071C>T;NP_001973.2:p.Ile357= 491044657 140648008 20110521_exome_552455_chr12_56482614 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56482614C>T;NG_011529.1:g.13723C>T;NM_001982.3:c.1071C>T;NP_001973.2:p.Ile357= 491667114 140648008 SNV-chr12-54768881 1.40e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56482649A>G;NG_011529.1:g.13758A>G;NM_001982.3:c.1106A>G;NP_001973.2:p.Asn369Ser 491469457 200211366 nonsyn_185683_chr_12_56482649 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56482649A>G;NG_011529.1:g.13758A>G;NM_001982.3:c.1106A>G;NP_001973.2:p.Asn369Ser 491667115 200211366 SNV-chr12-54768916 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482691C>T;NG_011529.1:g.13800C>T;NM_001982.3:c.1109+39C>T 462884830 192146102 20101123_snps_9052060_chr12_56482691 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482691C>T;NG_011529.1:g.13800C>T;NM_001982.3:c.1109+39C>T 491044658 192146102 20110521_exome_552456_chr12_56482691 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482854A>G;NG_011529.1:g.13963A>G;NM_001982.3:c.1109+202A>G 337368341 144377156 20100804_snps_9011882_chr12_56482854 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56482854A>G;NG_011529.1:g.13963A>G;NM_001982.3:c.1109+202A>G 491667116 144377156 SNV-chr12-54769121 7.80e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482859G>A;NG_011529.1:g.13968G>A;NM_001982.3:c.1109+207G>A 161047242 75375961 HumanOmni1-Quad_v1-0_B_SNP12-54769126-0_B_R_1588304451 6.59e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482859G>A;NG_011529.1:g.13968G>A;NM_001982.3:c.1109+207G>A 211287923 75375961 YRI.trio.3.2010_1104214_chr12_54769126 6.59e-02 2010.03.30 2010.03.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482859G>A;NG_011529.1:g.13968G>A;NM_001982.3:c.1109+207G>A 225768587 75375961 pilot_1_YRI_7578270_chr12_54769126 6.59e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56482859G>A;NG_011529.1:g.13968G>A;NM_001982.3:c.1109+207G>A 479251578 75375961 HumanOmni1-Quad_v1-0_C_kgp18751227-0_B_R_1829146370 6.59e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482914T>C;NG_011529.1:g.14023T>C;NM_001982.3:c.1109+262T>C 462884831 181858183 20101123_snps_9052061_chr12_56482914 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56482919_56482920insTTC;NG_011529.1:g.14028_14029insTTC;NM_001982.3:c.1109+267_1109+268insTTC 327980105 147491626 YRI_chr12_54769186_indel 6.59e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482919_56482920insTTC;NG_011529.1:g.14028_14029insTTC;NM_001982.3:c.1109+267_1109+268insTTC 499756318 147491626 20110316_indels_chr12_56482919_56482920 6.59e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56482969G>A;NG_011529.1:g.14078G>A;NM_001982.3:c.1109+317G>A 462884832 186875079 20101123_snps_9052062_chr12_56482969 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483093C>G;NG_011529.1:g.14202C>G;NM_001982.3:c.1109+441C>G 337368342 146615875 20100804_snps_9011883_chr12_56483093 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56483155T>C;NG_011529.1:g.14264T>C;NM_001982.3:c.1109+503T>C 462884833 190272819 20101123_snps_9052063_chr12_56483155 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483259C>T;NG_011529.1:g.14368C>T;NM_001982.3:c.1109+607C>T 462884834 182563545 20101123_snps_9052064_chr12_56483259 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483298G>A;NG_011529.1:g.14407G>A;NM_001982.3:c.1109+646G>A 337368343 141292133 20100804_snps_9011884_chr12_56483298 3.02e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56483344T>A;NG_011529.1:g.14453T>A;NM_001982.3:c.1109+692T>A 462884835 186838784 20101123_snps_9052065_chr12_56483344 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483383T>C;NG_011529.1:g.14492T>C;NM_001982.3:c.1109+731T>C 337368344 143292757 20100804_snps_9011885_chr12_56483383 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 GMI 2065 NC_000012.11:g.56483383T>C;NG_011529.1:g.14492T>C;NM_001982.3:c.1109+731T>C 475783006 143292757 GMI_AK_SNP_8451504 2.30e-03 2011.11.24 2011.11.24 2011.05.09 2012.11.28 137 KWOK 2065 NC_000012.11:g.56483436C>G;NG_011529.1:g.14545C>G;NM_001982.3:c.1109+784C>G 1000810 1088697 OVLP-000804-88959 2000.09.02 2003.10.10 2000.10.13 2011.07.08 137 KWOK 2065 NC_000012.11:g.56483436C>G;NG_011529.1:g.14545C>G;NM_001982.3:c.1109+784C>G 2040656 1088697 OVLP-000925-53933 2000.10.06 2003.10.10 2000.10.13 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56483467T>G;NG_011529.1:g.14576T>G;NM_001982.3:c.1109+815T>G 337368345 148289233 20100804_snps_9011886_chr12_56483467 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 2065 NC_000012.11:g.56483475A>G;NG_011529.1:g.14584A>G;NM_001982.3:c.1109+823A>G 1000809 1088696 OVLP-000804-88950 2000.09.02 2003.10.10 2000.10.13 2011.07.08 137 KWOK 2065 NC_000012.11:g.56483475A>G;NG_011529.1:g.14584A>G;NM_001982.3:c.1109+823A>G 2040655 1088696 OVLP-000925-53924 2000.10.06 2003.10.10 2000.10.13 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56483485C>T;NG_011529.1:g.14594C>T;NM_001982.3:c.1109+833C>T 462884836 189800795 20101123_snps_9052066_chr12_56483485 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483491C>T;NG_011529.1:g.14600C>T;NM_001982.3:c.1109+839C>T 337368346 140454718 20100804_snps_9011887_chr12_56483491 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 2065 NC_000012.11:g.56483535A>G;NG_011529.1:g.14644A>G;NM_001982.3:c.1109+883A>G 40209339 36035578 hCV26438977 4.85e-02 2005.07.16 2005.07.16 2006.03.15 2011.09.09 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56483535A>G;NG_011529.1:g.14644A>G;NM_001982.3:c.1109+883A>G 97311600 36035578 1103649448839 4.85e-02 2008.03.28 2008.03.28 2006.03.15 2011.09.09 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56483535A>G;NG_011529.1:g.14644A>G;NM_001982.3:c.1109+883A>G 169932124 36035578 NA19240_36_chr12_54769802 4.85e-02 2009.10.01 2009.10.01 2006.03.15 2011.09.09 137 BUSHMAN 2065 NC_000012.11:g.56483535A>G;NG_011529.1:g.14644A>G;NM_001982.3:c.1109+883A>G 198225114 36035578 BUSHMAN-chr12-54769801 4.85e-02 2010.03.06 2010.03.06 2006.03.15 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56483535A>G;NG_011529.1:g.14644A>G;NM_001982.3:c.1109+883A>G 235946050 36035578 pilot_1_CEU_5550679_chr12_54769802 4.85e-02 2010.05.01 2010.05.01 2006.03.15 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56483651_56483652insTG;NG_011529.1:g.14760_14761insTG;NM_001982.3:c.1109+999_1109+1000insTG 327980108 151196139 YRI_chr12_54769918_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 DEVINE_LAB 2065 NC_000012.11:g.56483653_56483654insGT;NG_011529.1:g.14762_14763insGT;NM_001982.3:c.1109+1001_1109+1002insGT 101998656 72342404 INDEL_GP36_2008a_2698122_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56483675C>A;NG_011529.1:g.14784C>A;NM_001982.3:c.1109+1023C>A 113586035 73340305 NA19240_2008_12_16_2464845_chr12_54769942 2.01e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 ILLUMINA-UK 2065 NC_000012.11:g.56483675C>A;NG_011529.1:g.14784C>A;NM_001982.3:c.1109+1023C>A 118828025 73340305 NA18507_000071855_NCBI36.1_chr12_54769942 2.01e-02 2009.01.21 2009.01.21 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56483675C>A;NG_011529.1:g.14784C>A;NM_001982.3:c.1109+1023C>A 169932154 73340305 NA19240_36_chr12_54769942 2.01e-02 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56483675C>A;NG_011529.1:g.14784C>A;NM_001982.3:c.1109+1023C>A 225768589 73340305 pilot_1_YRI_7578272_chr12_54769942 2.01e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 GMI 2065 NC_000012.11:g.56483690T>C;NG_011529.1:g.14799T>C;NM_001982.3:c.1109+1038T>C 281408652 200441844 GMI_AK_SNP_5729041 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 2065 NC_000012.11:g.56483691G>T;NG_011529.1:g.14800G>T;NM_001982.3:c.1109+1039G>T 281408653 201517607 GMI_AK_SNP_5729042 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 15158469 10719449 INDEL_GP34_WGS_259035 2003.11.13 2003.11.22 2003.12.05 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 94534542 10719449 INDEL_GP36_2008a_122861_1 2008.03.06 2008.05.17 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 95597496 10719449 1104685052989 2008.03.22 2008.12.03 2003.12.05 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 99443420 10719449 INDEL_GP36_2007a_122861_0 2008.05.05 2008.05.05 2003.12.05 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 101510609 10719449 INDEL_GP36_2008a_122861_2 2008.05.17 2008.05.17 2003.12.05 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 101510614 10719449 INDEL_GP36_2008a_122861_3 2008.05.17 2008.05.17 2003.12.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 155472946 10719449 GMI_INDEL-119057 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 193279879 10719449 BUSHMAN-chr12-54769958-54769959 2010.02.16 2010.02.16 2003.12.05 2012.11.28 137 BL 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 256118368 10719449 SNP3994_12_54769958 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56483692T>G;NG_011529.1:g.14801T>G;NM_001982.3:c.1109+1040T>G 281408654 199663404 GMI_AK_SNP_5729043 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 2065 NC_000012.11:g.56483692delT;NG_011529.1:g.14801delT;NM_001982.3:c.1109+1040delT 289130223 10719449 GMI_AK_INDEL_803733 2010.12.27 2011.12.28 2003.12.05 2012.11.28 137 BCM_SSAHASNP 2065 NC_000012.11:g.56483716A>T;NG_011529.1:g.14825A>T;NM_001982.3:c.1109+1064A>T 11026587 7301038 chr12.NT_029419.10_18627022 2003.07.01 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56483724A>T;NG_011529.1:g.14833A>T;NM_001982.3:c.1109+1072A>T 462884837 182687492 20101123_snps_9052067_chr12_56483724 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483819G>A;NG_011529.1:g.14928G>A;NM_001982.3:c.1109+1167G>A 462884838 188923723 20101123_snps_9052068_chr12_56483819 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483837C>T;NG_011529.1:g.14946C>T;NM_001982.3:c.1109+1185C>T 337368347 150160186 20100804_snps_9011888_chr12_56483837 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56483945G>A;NG_011529.1:g.15054G>A;NM_001982.3:c.1109+1293G>A 462884839 193234216 20101123_snps_9052069_chr12_56483945 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56483989G>A;NG_011529.1:g.15098G>A;NM_001982.3:c.1109+1337G>A 462884840 185362695 20101123_snps_9052070_chr12_56483989 6.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56484008T>C;NG_011529.1:g.15117T>C;NM_001982.3:c.1109+1356T>C 462884841 187482632 20101123_snps_9052071_chr12_56484008 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 2065 NC_000012.11:g.56484074G>A;NG_011529.1:g.15183G>A;NM_001982.3:c.1109+1422G>A 16168988 11171740 NT_029419.10_18627380 3.20e-03 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56484074G>A;NG_011529.1:g.15183G>A;NM_001982.3:c.1109+1422G>A 18512349 11171740 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18627380 3.20e-03 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56484074G>A;NG_011529.1:g.15183G>A;NM_001982.3:c.1109+1422G>A 281408655 11171740 GMI_AK_SNP_5729044 3.20e-03 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56484074G>A;NG_011529.1:g.15183G>A;NM_001982.3:c.1109+1422G>A 462884842 11171740 20101123_snps_9052072_chr12_56484074 3.20e-03 2011.07.20 2011.07.20 2004.02.27 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56484111C>A;NG_011529.1:g.15220C>A;NM_001982.3:c.1109+1459C>A 20863492 12809079 WGSA-200403-chr12.chr12.NT_029419.10_18627417 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 SSAHASNP 2065 NC_000012.11:g.56484136C>A;NG_011529.1:g.15245C>A;NM_001982.3:c.1109+1484C>A 20863572 12809099 WGSA-200403-chr12.chr12.NT_029419.10_18627442 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 SSAHASNP 2065 NC_000012.11:g.56484140G>A;NG_011529.1:g.15249G>A;NM_001982.3:c.1109+1488G>A 20865181 12809420 WGSA-200403-chr12.chr12.NT_029419.10_18627446 2004.03.19 2004.03.19 2004.04.05 2011.09.09 137 SSAHASNP 2065 NC_000012.11:g.56484146T>C;NG_011529.1:g.15255T>C;NM_001982.3:c.1109+1494T>C 20870496 12810462 WGSA-200403-chr12.chr12.NT_029419.10_18627452 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 SSAHASNP 2065 NC_000012.11:g.56484173T>A;NG_011529.1:g.15282T>A;NM_001982.3:c.1109+1521T>A 20870554 12810477 WGSA-200403-chr12.chr12.NT_029419.10_18627479 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56484186C>A;NG_011529.1:g.15295C>A;NM_001982.3:c.1109+1534C>A 337368348 138906959 20100804_snps_9011889_chr12_56484186 1.05e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56484289G>A;NG_011529.1:g.15398G>A;NM_001982.3:c.1109+1637G>A 462884843 184179645 20101123_snps_9052073_chr12_56484289 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2065 NC_000012.11:g.56484301G>A;NG_011529.1:g.15410G>A;NM_001982.3:c.1109+1649G>A 198225119 111753949 BUSHMAN-chr12-54770567 1.83e-02 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56484301G>A;NG_011529.1:g.15410G>A;NM_001982.3:c.1109+1649G>A 337368350 111753949 20100804_snps_9011891_chr12_56484301 1.83e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56484461_56484462delTC;NG_011529.1:g.15570_15571delTC;NM_001982.3:c.1109+1809_1109+1810delTC 327441881 147490873 JPTCHB_chr12_54770727_indel 1.60e-02 2011.03.12 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56484461_56484462delTC;NG_011529.1:g.15570_15571delTC;NM_001982.3:c.1109+1809_1109+1810delTC 499756322 147490873 20110316_indels_chr12_56484460_56484461 1.60e-02 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56484483_56484484insAC;NG_011529.1:g.15592_15593insAC;NM_001982.3:c.1109+1831_1109+1832insAC 193279881 112340323 BUSHMAN-chr12-54770750-54770750 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 GMI 2065 NC_000012.11:g.56484504_56484505insCA;NG_011529.1:g.15613_15614insCA;NM_001982.3:c.1109+1852_1109+1853insCA 289130224 201751665 GMI_AK_INDEL_803734 2010.12.27 2011.12.28 2012.05.04 2012.05.04 137 1000GENOMES 2065 NC_000012.11:g.56484548T>G;NG_011529.1:g.15657T>G;NM_001982.3:c.1109+1896T>G 225768590 114032300 pilot_1_YRI_7578273_chr12_54770815 2.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56484757A>G;NG_011529.1:g.15866A>G;NM_001982.3:c.1110-1774A>G 462884844 188555938 20101123_snps_9052074_chr12_56484757 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2065 NC_000012.11:g.56485051_56485052delTA;NG_011529.1:g.16160_16161delTA;NM_001982.3:c.1110-1480_1110-1479delTA 289130225 199547778 GMI_AK_INDEL_803735 2010.12.27 2011.12.28 2012.05.04 2012.05.04 137 SC_SNP 2065 NC_000012.11:g.56485059T>A;NG_011529.1:g.16168T>A;NM_001982.3:c.1110-1472T>A 16029980 10876871 NT_029419.10_18628365 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485059T>A;NG_011529.1:g.16168T>A;NM_001982.3:c.1110-1472T>A 16584627 10876871 CSHL-HuAA-200402.chr12.NT_029419.10_18628365 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56485059T>A;NG_011529.1:g.16168T>A;NM_001982.3:c.1110-1472T>A 18529105 10876871 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18628365 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56485059T>A;NG_011529.1:g.16168T>A;NM_001982.3:c.1110-1472T>A 157507981 10876871 GMI_SNP_169213609 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56485059T>A;NG_011529.1:g.16168T>A;NM_001982.3:c.1110-1472T>A 161535565 10876871 ENSSNP760578 2009.09.25 2010.03.07 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56485059T>A;NG_011529.1:g.16168T>A;NM_001982.3:c.1110-1472T>A 281408656 10876871 GMI_AK_SNP_5729045 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56485065T>A;NG_011529.1:g.16174T>A;NM_001982.3:c.1110-1466T>A 16029981 10876872 NT_029419.10_18628371 2003.11.18 2003.11.22 2004.02.27 2011.09.09 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485065T>A;NG_011529.1:g.16174T>A;NM_001982.3:c.1110-1466T>A 16584629 10876872 CSHL-HuAA-200402.chr12.NT_029419.10_18628371 2004.02.17 2004.03.04 2004.02.27 2011.09.09 137 SC_SNP 2065 NC_000012.11:g.56485065T>A;NG_011529.1:g.16174T>A;NM_001982.3:c.1110-1466T>A 18529109 10876872 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18628371 2004.02.20 2004.03.04 2004.02.27 2011.09.09 137 HGSV 2065 NC_000012.11:g.56485066A>T;NG_011529.1:g.16175A>T;NM_001982.3:c.1110-1465A>T 84501517 56730131 Cor19129_SNV_20070510.chr12_54771333 2007.12.07 2007.12.07 2007.12.14 2011.07.08 137 HGSV 2065 NC_000012.11:g.56485072A>T;NG_011529.1:g.16181A>T;NM_001982.3:c.1110-1459A>T 85495068 60893549 Cor19129_SNV_20070510.chr12_54771339 2007.12.09 2007.12.09 2007.12.16 2011.07.08 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56485080_56485081insTATATATATATATAATATATAAATATAAATATATATATATA;NG_011529.1:g.16189_16190insTATATATATATATAATATATAAATATAAATATATATATATA;NM_001982.3:c.1110-1451_1110-1450insTATATATATATATAATATATAAATATAAATATATATATATA 95597497 75144518 1104685052990 2008.03.22 2008.12.03 2009.12.01 2011.07.08 137 HGSV 2065 NC_000012.11:g.56485084A>T;NG_011529.1:g.16193A>T;NM_001982.3:c.1110-1447A>T 84791648 60809187 Cor19129_SNV_20070510.chr12_54771351 2007.12.08 2007.12.08 2007.12.16 2011.07.08 137 SC_SNP 2065 NC_000012.11:g.56485092T>A;NG_011529.1:g.16201T>A;NM_001982.3:c.1110-1439T>A 16029982 10876873 NT_029419.10_18628398 2003.11.18 2003.11.22 2004.02.27 2011.09.09 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485092T>A;NG_011529.1:g.16201T>A;NM_001982.3:c.1110-1439T>A 16584634 10876873 CSHL-HuAA-200402.chr12.NT_029419.10_18628398 2004.02.17 2004.03.04 2004.02.27 2011.09.09 137 SC_SNP 2065 NC_000012.11:g.56485092T>A;NG_011529.1:g.16201T>A;NM_001982.3:c.1110-1439T>A 18529116 10876873 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18628398 2004.02.20 2004.03.04 2004.02.27 2011.09.09 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485094A>T;NG_011529.1:g.16203A>T;NM_001982.3:c.1110-1437A>T 16594790 11614751 CSHL-HuAA-200402.chr12.NT_029419.10_18628400 2004.02.17 2004.03.04 2004.02.28 2011.09.09 137 HGSV 2065 NC_000012.11:g.56485094A>T;NG_011529.1:g.16203A>T;NM_001982.3:c.1110-1437A>T 84125367 11614751 Cor19129_SNV_20070510.chr12_54771361 2007.12.06 2007.12.06 2004.02.28 2011.09.09 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485100A>T;NG_011529.1:g.16209A>T;NM_001982.3:c.1110-1431A>T 16594791 11171741 CSHL-HuAA-200402.chr12.NT_029419.10_18628406 2004.02.17 2004.03.04 2004.02.27 2011.09.09 137 SC_SNP 2065 NC_000012.11:g.56485100A>T;NG_011529.1:g.16209A>T;NM_001982.3:c.1110-1431A>T 18540843 11171741 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18628406 2004.02.20 2004.03.04 2004.02.27 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56485194A>T;NG_011529.1:g.16303A>T;NM_001982.3:c.1110-1337A>T 462884845 180921882 20101123_snps_9052075_chr12_56485194 6.59e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2065 NC_000012.11:g.56485195_56485197delTTT;NG_011529.1:g.16304_16306delTTT;NM_001982.3:c.1110-1336_1110-1334delTTT 289130226 200790453 GMI_AK_INDEL_803736 2010.12.27 2011.12.28 2012.05.04 2012.05.04 137 SC_SNP 2065 NC_000012.11:g.56485196T>A;NG_011529.1:g.16305T>A;NM_001982.3:c.1110-1335T>A 16133512 10876874 NT_029419.10_18628502 4.41e-01 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485196T>A;NG_011529.1:g.16305T>A;NM_001982.3:c.1110-1335T>A 16584771 10876874 CSHL-HuAA-200402.chr12.NT_029419.10_18628502 4.41e-01 2004.02.17 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56485196T>A;NG_011529.1:g.16305T>A;NM_001982.3:c.1110-1335T>A 18529298 10876874 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18628502 4.41e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 HGSV 2065 NC_000012.11:g.56485196T>A;NG_011529.1:g.16305T>A;NM_001982.3:c.1110-1335T>A 84198583 10876874 Cor19129_SNV_20070510.chr12_54771463 4.41e-01 2007.12.06 2007.12.06 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56485196T>A;NG_011529.1:g.16305T>A;NM_001982.3:c.1110-1335T>A 281408657 10876874 GMI_AK_SNP_5729046 4.41e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485196T>A;NG_011529.1:g.16305T>A;NM_001982.3:c.1110-1335T>A 462884846 10876874 20101123_snps_9052076_chr12_56485196 4.41e-01 2011.07.20 2011.07.20 2004.02.27 2012.11.28 137 HGSV 2065 NC_000012.11:g.56485198T>A;NG_011529.1:g.16307T>A;NM_001982.3:c.1110-1333T>A 84254895 59334125 Cor19129_SNV_20070510.chr12_54771465 1.31e-01 2007.12.06 2007.12.06 2007.12.15 2012.11.28 137 GMI 2065 NC_000012.11:g.56485198T>A;NG_011529.1:g.16307T>A;NM_001982.3:c.1110-1333T>A 281408658 59334125 GMI_AK_SNP_5729047 1.31e-01 2010.12.16 2010.12.16 2007.12.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485198T>A;NG_011529.1:g.16307T>A;NM_001982.3:c.1110-1333T>A 462884847 59334125 20101123_snps_9052077_chr12_56485198 1.31e-01 2011.07.20 2011.07.20 2007.12.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485253C>T;NG_011529.1:g.16362C>T;NM_001982.3:c.1110-1278C>T 337368351 138158047 20100804_snps_9011892_chr12_56485253 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56485268C>T;NG_011529.1:g.16377C>T;NM_001982.3:c.1110-1263C>T 462884848 182379829 20101123_snps_9052078_chr12_56485268 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 KWOK 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 1000808 798829 OVLP-000804-88938 3.74e-01 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 KWOK 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 2040657 798829 OVLP-000925-53946 3.74e-01 2000.10.06 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 16168989 798829 NT_029419.10_18628575 3.74e-01 2003.11.18 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 16573359 798829 CSHL-HuAA-200402.chr12.NT_029419.10_18628575 3.74e-01 2004.02.17 2004.03.04 2000.10.05 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 18516086 798829 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18628575 3.74e-01 2004.02.20 2004.03.04 2000.10.05 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 89171134 798829 JWB-0563540 3.74e-01 2008.02.28 2008.02.28 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 111981323 798829 CEU.trio.12.15.2008_2741454_chr12_54771536 3.74e-01 2008.12.17 2008.12.17 2000.10.05 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 133183816 798829 ENSSNP5927841 3.74e-01 2009.05.12 2009.05.14 2000.10.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 157507988 798829 GMI_SNP_130257882 3.74e-01 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 168344945 798829 NA07022_36_chr12_54771536 3.74e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 225768591 798829 pilot_1_YRI_7578274_chr12_54771536 3.74e-01 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 235946052 798829 pilot_1_CEU_5550681_chr12_54771536 3.74e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 242503527 798829 pilot_1_CHB+JPT_4388604_chr12_54771536 3.74e-01 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 BL 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 255141601 798829 SNP67601_12_54771536 3.74e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56485269G>A;NG_011529.1:g.16378G>A;NM_001982.3:c.1110-1262G>A 281408659 798829 GMI_AK_SNP_5729048 3.74e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485384A>T;NG_011529.1:g.16493A>T;NM_001982.3:c.1110-1147A>T 462884849 186103138 20101123_snps_9052079_chr12_56485384 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2065 NC_000012.11:g.56485466A>G;NG_011529.1:g.16575A>G;NM_001982.3:c.1110-1065A>G 198225124 111240448 BUSHMAN-chr12-54771732 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 ILLUMINA 2065 NC_000012.11:g.56485505C>T;NG_011529.1:g.16614C>T;NM_001982.3:c.1110-1026C>T 161047243 75668652 HumanOmni1-Quad_v1-0_B_SNP12-54771772-0_B_F_1588247593 6.90e-03 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485505C>T;NG_011529.1:g.16614C>T;NM_001982.3:c.1110-1026C>T 242503528 75668652 pilot_1_CHB+JPT_4388605_chr12_54771772 6.90e-03 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56485505C>T;NG_011529.1:g.16614C>T;NM_001982.3:c.1110-1026C>T 479254549 75668652 HumanOmni1-Quad_v1-0_C_kgp19081072-0_B_F_1830805993 6.90e-03 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56485573T>C;NG_011529.1:g.16682T>C;NM_001982.3:c.1110-958T>C 235946053 117846238 pilot_1_CEU_5550682_chr12_54771840 6.90e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56485599G>A;NG_011529.1:g.16708G>A;NM_001982.3:c.1110-932G>A 337368352 143473013 20100804_snps_9011893_chr12_56485599 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 2065 NC_000012.11:g.56485807A>C;NG_011529.1:g.16916A>C;NM_001982.3:c.1110-724A>C 133183819 74443892 ENSSNP10616196 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 CSHL-HAPMAP 2065 NC_000012.11:g.56485869T>A;NG_011529.1:g.16978T>A;NM_001982.3:c.1110-662T>A 17469714 11835018 CSHL-HuCC-200402.chr12.NT_029419.10_18629175 6.82e-02 2004.02.19 2004.03.04 2004.02.28 2011.09.09 137 ABI 2065 NC_000012.11:g.56485869T>A;NG_011529.1:g.16978T>A;NM_001982.3:c.1110-662T>A 40139641 11835018 hCV26035944 6.82e-02 2005.07.16 2005.07.16 2004.02.28 2011.09.09 137 HGSV 2065 NC_000012.11:g.56485869T>A;NG_011529.1:g.16978T>A;NM_001982.3:c.1110-662T>A 85747923 11835018 Cor18517_SNV_20070510.chr12_54772136 6.82e-02 2007.12.10 2007.12.10 2004.02.28 2011.09.09 137 ENSEMBL 2065 NC_000012.11:g.56485869T>A;NG_011529.1:g.16978T>A;NM_001982.3:c.1110-662T>A 161535566 11835018 ENSSNP760579 6.82e-02 2009.09.25 2010.03.07 2004.02.28 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56485869T>A;NG_011529.1:g.16978T>A;NM_001982.3:c.1110-662T>A 337368353 11835018 20100804_snps_9011894_chr12_56485869 6.82e-02 2011.03.22 2011.03.22 2004.02.28 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56485931T>G;NG_011529.1:g.17040T>G;NM_001982.3:c.1110-600T>G 462884850 190516343 20101123_snps_9052080_chr12_56485931 1.24e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 2065 NC_000012.11:g.56485973A>C;NG_011529.1:g.17082A>C;NM_001982.3:c.1110-558A>C 18999875 12372070 SC-CHR9-12_NA07340-200402.chr12.NT_029419.10_18629279 2004.02.20 2004.03.04 2004.02.28 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56485997C>T;NG_011529.1:g.17106C>T;NM_001982.3:c.1110-534C>T 337368354 148602695 20100804_snps_9011895_chr12_56485997 2.06e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 888163 773116 OVLP-000804-88939 3.65e-01 2000.09.01 2003.10.10 2000.10.05 2012.11.28 137 KWOK 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 1984862 773116 OVLP-000925-53947 3.65e-01 2000.10.06 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 3720287 773116 AC025162.30_32063 3.65e-01 2001.09.25 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 4145621 773116 AC034102.28_116446 3.65e-01 2001.10.15 2003.10.10 2000.10.05 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 18519621 773116 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18629465 3.65e-01 2004.02.20 2004.03.04 2000.10.05 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 18758611 773116 SC-CHR9-12_NA17119-200402.chr12.NT_029419.10_18629465 3.65e-01 2004.02.20 2004.03.04 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 80482566 773116 Cor18507_SNV_20070510.chr12_54772426 3.65e-01 2007.11.25 2007.11.25 2000.10.05 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 89171138 773116 JWB-0563541 3.65e-01 2008.02.28 2008.02.28 2000.10.05 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 133183822 773116 ENSSNP6595044 3.65e-01 2009.05.12 2009.05.14 2000.10.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 157507995 773116 GMI_SNP_69001076 3.65e-01 2009.06.25 2009.06.25 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 168344957 773116 NA07022_36_chr12_54772426 3.65e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BL 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 255141607 773116 SNP67602_12_54772426 3.65e-01 2010.08.20 2010.08.20 2000.10.05 2012.11.28 137 GMI 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 281408660 773116 GMI_AK_SNP_5729049 3.65e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 291256978 773116 SNP_763336_chr12_54772426 3.65e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56486159G>A;NG_011529.1:g.17268G>A;NM_001982.3:c.1110-372G>A 337368355 773116 20100804_snps_9011896_chr12_56486159 3.65e-01 2011.03.22 2011.03.22 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56486174delA;NC_000012.11:g.56486174delAinsAA;NG_011529.1:g.17283delA;NG_011529.1:g.17283delAinsAA;NM_001982.3:c.1110-357delA;NM_001982.3:c.1110-357delAinsAA 79945682 60865127 Cor18507_DIV_20070510.chr12_54772469-54772472_1 2007.11.24 2007.11.24 2007.12.16 2012.12.04 137 ENSEMBL 2065 NC_000012.11:g.56486184A>C;NG_011529.1:g.17293A>C;NM_001982.3:c.1110-347A>C 133183826 78467114 ENSSNP10616198 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56486335A>C;NG_011529.1:g.17444A>C;NM_001982.3:c.1110-196A>C 462884851 181442133 20101123_snps_9052081_chr12_56486335 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 18789545 12320176 SC-CHR9-12_NA17119-200402.chr12.NT_029419.10_18629881 2.30e-03 2004.02.20 2008.03.31 2004.02.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 74816113 12320176 SNP_M-311949 2.30e-03 2007.08.09 2007.08.09 2004.02.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 74963774 12320176 ILMN_Human_1M_rs12320176 2.30e-03 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 119770227 12320176 KHS1839819 2.30e-03 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 172003155 12320176 Human1M-Duov3_B_rs12320176-128_B_R_1513923786 2.30e-03 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 337368356 12320176 20100804_snps_9011897_chr12_56486575 2.30e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 342359236 12320176 ESP2500-chr12-56486575 2.30e-03 2011.03.26 2011.03.26 2004.02.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 491044659 12320176 20110521_exome_552457_chr12_56486575 2.30e-03 2012.02.22 2012.02.22 2004.02.28 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56486575A>G;NG_011529.1:g.17684A>G;NM_001982.3:c.1154A>G;NP_001973.2:p.Asn385Ser 491469458 12320176 nonsyn_185684_chr_12_56486575 2.30e-03 2012.03.05 2012.03.05 2004.02.28 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56486592C>T;NG_011529.1:g.17701C>T;NM_001982.3:c.1171C>T;NP_001973.2:p.Arg391Trp 342359237 139868331 ESP2500-chr12-56486592 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56486751C>A;NG_011529.1:g.17860C>A;NM_001982.3:c.1184-19C>A 337368357 139749751 20100804_snps_9011898_chr12_56486751 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56486751C>A;NG_011529.1:g.17860C>A;NM_001982.3:c.1184-19C>A 491044660 139749751 20110521_exome_552458_chr12_56486751 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363108 66568625 INDEL_GP36_2008a_2663284_0 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363110 66568625 INDEL_GP36_2008a_2663284_1 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363112 66568625 INDEL_GP36_2008a_2663284_2 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363116 66568625 INDEL_GP36_2008a_2663284_3 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363118 66568625 INDEL_GP36_2008a_2663284_4 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363123 66568625 INDEL_GP36_2008a_2663284_5 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363124 66568625 INDEL_GP36_2008a_2663284_6 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363128 66568625 INDEL_GP36_2008a_2663284_7 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363130 66568625 INDEL_GP36_2008a_2663284_8 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363133 66568625 INDEL_GP36_2008a_2663284_9 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363135 66568625 INDEL_GP36_2008a_2663284_10 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363138 66568625 INDEL_GP36_2008a_2663284_11 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363142 66568625 INDEL_GP36_2008a_2663284_12 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363145 66568625 INDEL_GP36_2008a_2663284_13 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363149 66568625 INDEL_GP36_2008a_2663284_14 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363150 66568625 INDEL_GP36_2008a_2663284_15 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363153 66568625 INDEL_GP36_2008a_2663284_16 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363157 66568625 INDEL_GP36_2008a_2663284_17 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363159 66568625 INDEL_GP36_2008a_2663284_18 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363163 66568625 INDEL_GP36_2008a_2663284_19 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363164 66568625 INDEL_GP36_2008a_2663284_20 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363169 66568625 INDEL_GP36_2008a_2663284_21 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363170 66568625 INDEL_GP36_2008a_2663284_22 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363174 66568625 INDEL_GP36_2008a_2663284_23 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363176 66568625 INDEL_GP36_2008a_2663284_24 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363180 66568625 INDEL_GP36_2008a_2663284_25 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363183 66568625 INDEL_GP36_2008a_2663284_26 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363186 66568625 INDEL_GP36_2008a_2663284_27 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363189 66568625 INDEL_GP36_2008a_2663284_28 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56486760delA;NG_011529.1:g.17869delA;NM_001982.3:c.1184-10delA 102363192 66568625 INDEL_GP36_2008a_2663284_29 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 WTCCC 2065 NC_000012.11:g.56486826A>C;NG_011529.1:g.17935A>C;NM_001982.3:c.1240A>C;NP_001973.2:p.Asn414His 120258299 74763375 NT_029419.11_18630132 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 CLINSEQ_SNP 2065 NC_000012.11:g.56486838A>G;NG_011529.1:g.17947A>G;NM_001982.3:c.1252A>G;NP_001973.2:p.Ile418Val 491667117 201880960 SNV-chr12-54773105 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56486839T>A;NG_011529.1:g.17948T>A;NM_001982.3:c.1253T>A;NP_001973.2:p.Ile418Asn 342359238 141230043 ESP2500-chr12-56486839 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56486839T>A;NG_011529.1:g.17948T>A;NM_001982.3:c.1253T>A;NP_001973.2:p.Ile418Asn 491469459 141230043 nonsyn_185685_chr_12_56486839 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56486846C>G;NG_011529.1:g.17955C>G;NM_001982.3:c.1260C>G;NP_001973.2:p.Gly420= 488996463 201663351 20110521_exome_173387_chr12_56486846 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56486989C>T;NG_011529.1:g.18098C>T;NM_001982.3:c.1274+129C>T 198225129 112882897 BUSHMAN-chr12-54773255 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56487055G>A;NG_011529.1:g.18164G>A;NM_001982.3:c.1275-74G>A 462884852 185534054 20101123_snps_9052082_chr12_56487055 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA 2065 NC_000012.11:g.56487084G>A;NG_011529.1:g.18193G>A;NM_001982.3:c.1275-45G>A 161047244 78667723 HumanOmni1-Quad_v1-0_B_SNP12-54773351-0_T_F_1588284798 9.00e-04 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487084G>A;NG_011529.1:g.18193G>A;NM_001982.3:c.1275-45G>A 462884853 78667723 20101123_snps_9052083_chr12_56487084 9.00e-04 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56487084G>A;NG_011529.1:g.18193G>A;NM_001982.3:c.1275-45G>A 479255166 78667723 HumanOmni1-Quad_v1-0_C_kgp19153481-0_T_F_1830950809 9.00e-04 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487084G>A;NG_011529.1:g.18193G>A;NM_001982.3:c.1275-45G>A 491044661 78667723 20110521_exome_552459_chr12_56487084 9.00e-04 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487135C>T;NG_011529.1:g.18244C>T;NM_001982.3:c.1281C>T;NP_001973.2:p.Gly427= 488996465 200737450 20110521_exome_173388_chr12_56487135 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ABI 2065 NC_000012.11:g.56487138_56487139insC;NG_011529.1:g.18247_18248insC;NM_001982.3:c.1284_1285insC;NP_001973.2:p.Phe428_Ser429delinsPheLeuIlefs 40244757 34331509 hCV32454949 2005.07.16 2005.07.16 2006.03.13 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56487159C>T;NG_011529.1:g.18268C>T;NM_001982.3:c.1305C>T;NP_001973.2:p.Asn435= 488996467 199613777 20110521_exome_173389_chr12_56487159 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 WICVAR 2065 NC_000012.11:g.56487162G>A;NG_011529.1:g.18271G>A;NM_001982.3:c.1308G>A;NP_001973.2:p.Leu436= 3176023 2229045 WIAF-14599 2001.06.28 2003.10.10 2001.08.15 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56487162G>A;NG_011529.1:g.18271G>A;NM_001982.3:c.1308G>A;NP_001973.2:p.Leu436= 342359239 2229045 ESP2500-chr12-56487162 2011.03.26 2011.03.26 2001.08.15 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56487162G>A;NG_011529.1:g.18271G>A;NM_001982.3:c.1308G>A;NP_001973.2:p.Leu436= 491667118 2229045 SNV-chr12-54773429 2012.03.06 2012.03.12 2001.08.15 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56487180C>G;NG_011529.1:g.18289C>G;NM_001982.3:c.1326C>G;NP_001973.2:p.Gly442= 491667119 200855296 SNV-chr12-54773447 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 WICVAR 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 3176024 2229046 WIAF-14600 4.08e-02 2001.06.28 2004.04.07 2001.08.15 2012.11.28 137 ABI 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 38891378 2229046 hCV2022145 4.08e-02 2005.07.16 2006.11.02 2001.08.15 2012.11.28 137 APPLERA_GI 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 48422772 2229046 hCV2022145 4.08e-02 2005.11.30 2006.11.03 2001.08.15 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 74801453 2229046 5847 4.08e-02 2007.07.20 2007.07.20 2001.08.15 2012.11.28 137 SI_EXO 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 76891928 2229046 NT_029419.11_18630507 4.08e-02 2007.09.20 2007.09.20 2001.08.15 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 97311602 2229046 1103649448843 4.08e-02 2008.03.28 2008.03.28 2001.08.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 113586041 2229046 NA19240_2008_12_16_2464846_chr12_54773468 4.08e-02 2008.12.18 2008.12.18 2001.08.15 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 137430914 2229046 ENSSNP760580 4.08e-02 2009.05.16 2009.10.15 2001.08.15 2012.11.28 137 SEATTLESEQ 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 159726617 2229046 ERBB3-54773468 4.08e-02 2009.07.10 2009.07.10 2001.08.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 161047245 2229046 HumanOmni1-Quad_v1-0_B_SNP12-54773468-0_B_F_1588231237 4.08e-02 2009.08.07 2009.10.05 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 169932179 2229046 NA19240_36_chr12_54773468 4.08e-02 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 198225134 2229046 BUSHMAN-chr12-54773467 4.08e-02 2010.03.06 2010.03.06 2001.08.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 225768592 2229046 pilot_1_YRI_7578275_chr12_54773468 4.08e-02 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 235946054 2229046 pilot_1_CEU_5550683_chr12_54773468 4.08e-02 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 PJP 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 291256979 2229046 SNP_763337_chr12_54773468 4.08e-02 2011.01.21 2011.01.21 2001.08.15 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 342359240 2229046 ESP2500-chr12-56487201 4.08e-02 2011.03.26 2011.03.26 2001.08.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 479386533 2229046 HumanOmni1-Quad_v1-0_C_kgp3079747-0_B_F_1803044575 4.08e-02 2012.01.30 2012.01.30 2001.08.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 483083235 2229046 HumanOmni2.5-4v1_B_SNP12-54773468-0_B_F_1619800349 4.08e-02 2012.02.02 2012.02.02 2001.08.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 483105255 2229046 HumanOmni2.5-4v1_D_kgp3079747-0_B_F_1803044575 4.08e-02 2012.02.02 2012.02.02 2001.08.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 491044662 2229046 20110521_exome_552460_chr12_56487201 4.08e-02 2012.02.22 2012.02.22 2001.08.15 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56487201T>C;NG_011529.1:g.18310T>C;NM_001982.3:c.1347T>C;NP_001973.2:p.Ile449= 491667120 2229046 SNV-chr12-54773468 4.08e-02 2012.03.06 2012.03.12 2001.08.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487212G>A;NG_011529.1:g.18321G>A;NM_001982.3:c.1358G>A;NP_001973.2:p.Arg453His 337368358 144549266 20100804_snps_9011899_chr12_56487212 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487212G>A;NG_011529.1:g.18321G>A;NM_001982.3:c.1358G>A;NP_001973.2:p.Arg453His 491044663 144549266 20110521_exome_552461_chr12_56487212 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56487212G>A;NG_011529.1:g.18321G>A;NM_001982.3:c.1358G>A;NP_001973.2:p.Arg453His 491469460 144549266 nonsyn_185686_chr_12_56487212 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 GOLDSTEINLAB 2065 ARRAY(0x957fb140) 507877526 200007116 12_54773487_G 2012.04.06 2012.04.06 2012.05.04 2012.05.04 137 NHLBI-ESP 2065 NC_000012.11:g.56487323G>A;NG_011529.1:g.18432G>A;NM_001982.3:c.1469G>A;NP_001973.2:p.Arg490His 342359241 149951770 ESP2500-chr12-56487323 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487323G>A;NG_011529.1:g.18432G>A;NM_001982.3:c.1469G>A;NP_001973.2:p.Arg490His 488996469 149951770 20110521_exome_173390_chr12_56487323 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56487323G>A;NG_011529.1:g.18432G>A;NM_001982.3:c.1469G>A;NP_001973.2:p.Arg490His 491469461 149951770 nonsyn_185687_chr_12_56487323 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487334G>T;NG_011529.1:g.18443G>T;NM_001982.3:c.1480G>T;NP_001973.2:p.Val494Leu 462884854 182692782 20101123_snps_9052084_chr12_56487334 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487334G>T;NG_011529.1:g.18443G>T;NM_001982.3:c.1480G>T;NP_001973.2:p.Val494Leu 491044664 182692782 20110521_exome_552462_chr12_56487334 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56487432A>G;NG_011529.1:g.18541A>G;NM_001982.3:c.1480+98A>G 120257505 79292194 NT_029419.11_18630738 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 GMI 2065 NC_000012.11:g.56487560A>T;NG_011529.1:g.18669A>T;NM_001982.3:c.1493A>T;NP_001973.2:p.Lys498Ile 281408661 146593760 GMI_AK_SNP_5729050 2.70e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487560A>T;NG_011529.1:g.18669A>T;NM_001982.3:c.1493A>T;NP_001973.2:p.Lys498Ile 337368359 146593760 20100804_snps_9011900_chr12_56487560 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487560A>T;NG_011529.1:g.18669A>T;NM_001982.3:c.1493A>T;NP_001973.2:p.Lys498Ile 491044665 146593760 20110521_exome_552463_chr12_56487560 2.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56487560A>T;NG_011529.1:g.18669A>T;NM_001982.3:c.1493A>T;NP_001973.2:p.Lys498Ile 491469462 146593760 nonsyn_185688_chr_12_56487560 2.70e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56487605G>A;NG_011529.1:g.18714G>A;NM_001982.3:c.1538G>A;NP_001973.2:p.Gly513Asp 342359242 145108143 ESP2500-chr12-56487605 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56487605G>A;NG_011529.1:g.18714G>A;NM_001982.3:c.1538G>A;NP_001973.2:p.Gly513Asp 491469463 145108143 nonsyn_185689_chr_12_56487605 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487606C>T;NG_011529.1:g.18715C>T;NM_001982.3:c.1539C>T;NP_001973.2:p.Gly513= 462884855 186080571 20101123_snps_9052085_chr12_56487606 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487606C>T;NG_011529.1:g.18715C>T;NM_001982.3:c.1539C>T;NP_001973.2:p.Gly513= 491044666 186080571 20110521_exome_552464_chr12_56487606 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56487618C>T;NG_011529.1:g.18727C>T;NM_001982.3:c.1551C>T;NP_001973.2:p.Cys517= 342359243 140670767 ESP2500-chr12-56487618 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56487618C>T;NG_011529.1:g.18727C>T;NM_001982.3:c.1551C>T;NP_001973.2:p.Cys517= 491667121 140670767 SNV-chr12-54773885 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56487657G>C;NG_011529.1:g.18766G>C;NM_001982.3:c.1590G>C;NP_001973.2:p.Val530= 74801454 55880327 5839 1.80e-03 2007.07.20 2007.07.20 2007.12.06 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56487657G>C;NG_011529.1:g.18766G>C;NM_001982.3:c.1590G>C;NP_001973.2:p.Val530= 342359244 55880327 ESP2500-chr12-56487657 1.80e-03 2011.03.26 2011.03.26 2007.12.06 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487657G>C;NG_011529.1:g.18766G>C;NM_001982.3:c.1590G>C;NP_001973.2:p.Val530= 462884856 55880327 20101123_snps_9052086_chr12_56487657 1.80e-03 2011.07.20 2011.07.20 2007.12.06 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487657G>C;NG_011529.1:g.18766G>C;NM_001982.3:c.1590G>C;NP_001973.2:p.Val530= 491044667 55880327 20110521_exome_552465_chr12_56487657 1.80e-03 2012.02.22 2012.02.22 2007.12.06 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56487657G>C;NG_011529.1:g.18766G>C;NM_001982.3:c.1590G>C;NP_001973.2:p.Val530= 491667122 55880327 SNV-chr12-54773924 1.80e-03 2012.03.06 2012.03.12 2007.12.06 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487658A>T;NG_011529.1:g.18767A>T;NM_001982.3:c.1591A>T;NP_001973.2:p.Thr531Ser 488996471 200670489 20110521_exome_173391_chr12_56487658 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56487664T>C;NG_011529.1:g.18773T>C;NM_001982.3:c.1597T>C;NP_001973.2:p.Cys533Arg 342359245 147888915 ESP2500-chr12-56487664 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56487707T>C;NG_011529.1:g.18816T>C;NM_001982.3:c.1613+27T>C 337368360 141355769 20100804_snps_9011901_chr12_56487707 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56487728A>G;NG_011529.1:g.18837A>G;NM_001982.3:c.1613+48A>G 462884857 184082141 20101123_snps_9052087_chr12_56487728 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487728A>G;NG_011529.1:g.18837A>G;NM_001982.3:c.1613+48A>G 491044668 184082141 20110521_exome_552466_chr12_56487728 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 ABI 2065 NC_000012.11:g.56487730_56487731insG;NG_011529.1:g.18839_18840insG;NM_001982.3:c.1613+50_1613+51insG 40114421 35098481 hCV32454952 2005.07.16 2005.07.16 2006.03.14 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56487761C>T;NG_011529.1:g.18870C>T;NM_001982.3:c.1613+81C>T 337368361 149790108 20100804_snps_9011902_chr12_56487761 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56487858C>G;NG_011529.1:g.18967C>G;NM_001982.3:c.1614-25C>G 337368362 145774133 20100804_snps_9011903_chr12_56487858 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487858C>G;NG_011529.1:g.18967C>G;NM_001982.3:c.1614-25C>G 491044669 145774133 20110521_exome_552467_chr12_56487858 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56487854_56487855insC;NG_011529.1:g.18963_18964insC;NM_001982.3:c.1614-29_1614-28insC 101985174 66770312 INDEL_GP36_2008a_2663316_0 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56487854_56487855insC;NG_011529.1:g.18963_18964insC;NM_001982.3:c.1614-29_1614-28insC 101985177 66770312 INDEL_GP36_2008a_2663316_1 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56487854_56487855insC;NG_011529.1:g.18963_18964insC;NM_001982.3:c.1614-29_1614-28insC 101985179 66770312 INDEL_GP36_2008a_2663316_2 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56487854_56487855insC;NG_011529.1:g.18963_18964insC;NM_001982.3:c.1614-29_1614-28insC 101985182 66770312 INDEL_GP36_2008a_2663316_3 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56487854_56487855insC;NG_011529.1:g.18963_18964insC;NM_001982.3:c.1614-29_1614-28insC 101985185 66770312 INDEL_GP36_2008a_2663316_4 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56487877C>A;NG_011529.1:g.18986C>A;NM_001982.3:c.1614-6C>A 488996473 200184071 20110521_exome_173392_chr12_56487877 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487921C>T;NG_011529.1:g.19030C>T;NM_001982.3:c.1652C>T;NP_001973.2:p.Ser551Phe 488996475 201942735 20110521_exome_173393_chr12_56487921 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56487950G>A;NG_011529.1:g.19059G>A;NM_001982.3:c.1681G>A;NP_001973.2:p.Gly561Ser 491667123 202048840 SNV-chr12-54774217 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487998C>T;NG_011529.1:g.19107C>T;NM_001982.3:c.1704+25C>T 337368363 148962556 20100804_snps_9011904_chr12_56487998 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56487998C>T;NG_011529.1:g.19107C>T;NM_001982.3:c.1704+25C>T 491044670 148962556 20110521_exome_552468_chr12_56487998 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488008A>G;NG_011529.1:g.19117A>G;NM_001982.3:c.1704+35A>G 161047246 78232207 HumanOmni1-Quad_v1-0_B_SNP12-54774275-0_B_R_1588266645 5.00e-04 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488008A>G;NG_011529.1:g.19117A>G;NM_001982.3:c.1704+35A>G 462884858 78232207 20101123_snps_9052088_chr12_56488008 5.00e-04 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488008A>G;NG_011529.1:g.19117A>G;NM_001982.3:c.1704+35A>G 479253955 78232207 HumanOmni1-Quad_v1-0_C_kgp19016999-0_B_R_1829735899 5.00e-04 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488008A>G;NG_011529.1:g.19117A>G;NM_001982.3:c.1704+35A>G 491044671 78232207 20110521_exome_552469_chr12_56488008 5.00e-04 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488024delT;NG_011529.1:g.19133delT;NM_001982.3:c.1704+51delT 100283046 67819104 INDEL_GP36_2008a_2757364_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56488024delT;NG_011529.1:g.19133delT;NM_001982.3:c.1704+51delT 100283048 67819104 INDEL_GP36_2008a_2757364_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56488024delT;NG_011529.1:g.19133delT;NM_001982.3:c.1704+51delT 100283053 67819104 INDEL_GP36_2008a_2757364_2 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56488024delT;NG_011529.1:g.19133delT;NM_001982.3:c.1704+51delT 100283054 67819104 INDEL_GP36_2008a_2757364_3 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 PJP 2065 NC_000012.11:g.56488053G>A;NG_011529.1:g.19162G>A;NM_001982.3:c.1704+80G>A 291256980 143032007 SNP_763338_chr12_54774320 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 ILLUMINA-UK 2065 NC_000012.11:g.56488168C>T;NG_011529.1:g.19277C>T;NM_001982.3:c.1705-18C>T 118828029 74094535 NA18507_000071856_NCBI36.1_chr12_54774435 2.70e-03 2009.01.21 2009.01.21 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488168C>T;NG_011529.1:g.19277C>T;NM_001982.3:c.1705-18C>T 337368364 74094535 20100804_snps_9011905_chr12_56488168 2.70e-03 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488168C>T;NG_011529.1:g.19277C>T;NM_001982.3:c.1705-18C>T 491044672 74094535 20110521_exome_552470_chr12_56488168 2.70e-03 2012.02.22 2012.02.22 2009.02.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488206A>G;NG_011529.1:g.19315A>G;NM_001982.3:c.1725A>G;NP_001973.2:p.Gln575= 488996477 201112536 20110521_exome_173394_chr12_56488206 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56488210G>A;NG_011529.1:g.19319G>A;NM_001982.3:c.1729G>A;NP_001973.2:p.Ala577Thr 342359246 141636701 ESP2500-chr12-56488210 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56488220G>A;NG_011529.1:g.19329G>A;NM_001982.3:c.1739G>A;NP_001973.2:p.Arg580Gln 488996479 200350558 20110521_exome_173395_chr12_56488220 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56488261C>T;NG_011529.1:g.19370C>T;NM_001982.3:c.1780C>T;NP_001973.2:p.Leu594= 74803402 56073151 9048 9.00e-04 2007.07.20 2007.07.20 2007.12.07 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488261C>T;NG_011529.1:g.19370C>T;NM_001982.3:c.1780C>T;NP_001973.2:p.Leu594= 488996481 56073151 20110521_exome_173396_chr12_56488261 9.00e-04 2012.02.13 2012.02.13 2007.12.07 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488290_56488291insC;NG_011529.1:g.19399_19400insC;NM_001982.3:c.1809_1810insC;NP_001973.2:p.Tyr603_Pro604delinsTyrProArgfs 101867241 66469469 INDEL_GP36_2008a_2630602_0 2008.05.18 2008.05.18 2009.02.03 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56488290_56488291insC;NG_011529.1:g.19399_19400insC;NM_001982.3:c.1809_1810insC;NP_001973.2:p.Tyr603_Pro604delinsTyrProArgfs 101867246 66469469 INDEL_GP36_2008a_2630602_1 2008.05.18 2008.05.18 2009.02.03 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56488293A>C;NG_011529.1:g.19402A>C;NM_001982.3:c.1812A>C;NP_001973.2:p.Pro604= 488996483 201250912 20110521_exome_173397_chr12_56488293 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488321C>G;NG_011529.1:g.19430C>G;NM_001982.3:c.1840C>G;NP_001973.2:p.His614Asp 488996485 200574817 20110521_exome_173398_chr12_56488321 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56488324G>A;NG_011529.1:g.19433G>A;NM_001982.3:c.1843G>A;NP_001973.2:p.Glu615Lys 342359247 143726790 ESP2500-chr12-56488324 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56488694C>A;NG_011529.1:g.19803C>A;NM_001982.3:c.1860-347C>A 462884859 192237788 20101123_snps_9052089_chr12_56488694 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2065 NC_000012.11:g.56488735_56488736insA;NG_011529.1:g.19844_19845insA;NM_001982.3:c.1860-306_1860-305insA 40263569 35171028 hCV11292989 2005.07.16 2005.07.16 2006.03.14 2011.09.17 137 BUSHMAN 2065 NC_000012.11:g.56488735_56488736insA;NG_011529.1:g.19844_19845insA;NM_001982.3:c.1860-306_1860-305insA 193279883 35171028 BUSHMAN-chr12-54775002-54775002 2010.02.16 2010.02.16 2006.03.14 2011.09.17 137 BL 2065 NC_000012.11:g.56488735_56488736insA;NG_011529.1:g.19844_19845insA;NM_001982.3:c.1860-306_1860-305insA 256118373 35171028 SNP3995_12_54775002 2010.08.20 2010.08.20 2006.03.14 2011.09.17 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 15311759 11425044 INDEL_GP34_WGS_455595 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 50290821 11425044 INDEL_GP35_WGS_550286 2006.01.24 2006.01.24 2004.02.28 2012.11.28 137 HGSV 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 83914869 11425044 Cor18517_DIV_20070510.chr12_54775015-54775016_1 2007.12.06 2007.12.06 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 94330052 11425044 INDEL_GP36_2008a_49183_1 2008.03.06 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 94355735 11425044 INDEL_GP36_2008a_55709_1 2008.03.06 2008.05.17 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 95920198 11425044 1104753257799 2008.03.24 2008.07.02 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 99402889 11425044 INDEL_GP36_2007a_55709_0 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 99504818 11425044 INDEL_GP36_2007a_129421_0 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 99739085 11425044 INDEL_GP36_2007a_49183_0 2008.05.06 2008.05.06 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 100389217 11425044 INDEL_GP36_2008a_1586449_0 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 102258939 11425044 INDEL_GP36_2008a_1864159_0 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 102258941 11425044 INDEL_GP36_2008a_1864159_1 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 287891856 11425044 GMI_NA10851_INDEL_225077 2010.12.20 2010.12.21 2004.02.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56488736_56488737insA;NG_011529.1:g.19845_19846insA;NM_001982.3:c.1860-305_1860-304insA 294753865 11425044 DIP_191569_chr12_54775009 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488846T>C;NG_011529.1:g.19955T>C;NM_001982.3:c.1860-195T>C 462884860 182896439 20101123_snps_9052090_chr12_56488846 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56488884T>A;NG_011529.1:g.19993T>A;NM_001982.3:c.1860-157T>A 337368365 138338331 20100804_snps_9011906_chr12_56488884 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 2065 NC_000012.11:g.56488906A>T;NG_011529.1:g.20015A>T;NM_001982.3:c.1860-135A>T 157507998 79020757 GMI_SNP_129790645 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 2065 NC_000012.11:g.56488906A>T;NG_011529.1:g.20015A>T;NM_001982.3:c.1860-135A>T 281408662 79020757 GMI_AK_SNP_5729051 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 KWOK 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 888164 705708 OVLP-000804-88941 3.82e-01 2000.09.01 2003.10.10 2000.10.04 2012.11.28 137 TSC-CSHL 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 1335271 705708 TSC0180286 3.82e-01 2000.09.06 2004.04.07 2000.10.04 2012.11.28 137 KWOK 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 1984863 705708 OVLP-000925-53949 3.82e-01 2000.10.06 2004.04.07 2000.10.04 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 2520167 705708 AC025162.13_109789 3.82e-01 2000.11.03 2003.10.10 2000.10.04 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 3720288 705708 AC025162.30_34816 3.82e-01 2001.09.25 2003.10.10 2000.10.04 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 4145622 705708 AC034102.28_119200 3.82e-01 2001.10.15 2003.10.10 2000.10.04 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 16168990 705708 NT_029419.10_18632219 3.82e-01 2003.11.18 2003.11.22 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 65723806 705708 Human1-rs705708 3.82e-01 2006.10.10 2006.10.10 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 66689712 705708 HumanHap300v1.1_rs705708 3.82e-01 2006.11.09 2006.11.09 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 67534977 705708 HumanHap550v1.1_rs705708 3.82e-01 2006.11.14 2006.11.14 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 67905487 705708 HumanHap650Yv1.0_rs705708 3.82e-01 2006.11.14 2006.11.14 2000.10.04 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 69109878 705708 PGP04133341 3.82e-01 2007.01.30 2007.08.14 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 70905286 705708 HumanHap550v3.0__rs705708 3.82e-01 2007.04.20 2008.03.31 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 71501605 705708 HumanHap650Yv3.0_rs705708 3.82e-01 2007.04.23 2007.04.23 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 75585758 705708 ILMN_Human_1M_rs705708 3.82e-01 2007.08.29 2007.08.29 2000.10.04 2012.11.28 137 AFFY 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 76617711 705708 AFFY_6_1M_SNP_A-8478980 3.82e-01 2007.08.30 2007.08.30 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 79244045 705708 HumanHap300v2.0_rs705708 3.82e-01 2007.11.18 2007.11.18 2000.10.04 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 83523861 705708 KHS481714 3.82e-01 2007.12.05 2007.12.05 2000.10.04 2012.11.28 137 HGSV 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 85685138 705708 Cor19129_SNV_20070510.chr12_54775180 3.82e-01 2007.12.10 2007.12.10 2000.10.04 2012.11.28 137 HGSV 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 85860480 705708 Cor18517_SNV_20070510.chr12_54775180 3.82e-01 2007.12.10 2007.12.10 2000.10.04 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 89171140 705708 JWB-0563542 3.82e-01 2008.02.28 2008.02.28 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 111981339 705708 CEU.trio.12.15.2008_2741456_chr12_54775180 3.82e-01 2008.12.17 2008.12.17 2000.10.04 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 118828032 705708 NA18507_000071857_NCBI36.1_chr12_54775180 3.82e-01 2009.01.21 2009.01.21 2000.10.04 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 120251579 705708 NT_029419.11_18632219 3.82e-01 2009.04.10 2009.04.24 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 122679299 705708 HumanCNV370v1_C_rs705708 3.82e-01 2009.04.15 2009.04.15 2000.10.04 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 133183830 705708 ENSSNP6563193 3.82e-01 2009.05.12 2009.05.14 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 154401258 705708 Human610_Quadv1_B_rs705708-128_B_R_1501838821 3.82e-01 2009.06.20 2009.06.20 2000.10.04 2012.11.28 137 GMI 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 157508009 705708 GMI_SNP_130328600 3.82e-01 2009.06.25 2009.06.25 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 159576601 705708 Human660W-Quad_v1_A_rs705708-128_B_R_1501838821 3.82e-01 2009.07.07 2009.07.07 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 160841792 705708 HumanOmni1-Quad_v1-0_B_rs705708-128_B_R_1501838821 3.82e-01 2009.08.07 2009.10.04 2000.10.04 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 168344962 705708 NA07022_36_chr12_54775180 3.82e-01 2009.10.01 2009.10.01 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 172238894 705708 HumanCNV370-Quadv3_C_rs705708-128_B_R_1501838821 3.82e-01 2009.10.02 2009.10.04 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 174222705 705708 Human1M-Duov3_B_rs705708-128_B_R_1501838821 3.82e-01 2009.10.04 2009.10.04 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 225768593 705708 pilot_1_YRI_7578276_chr12_54775180 3.82e-01 2010.04.22 2010.04.22 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 235946056 705708 pilot_1_CEU_5550685_chr12_54775180 3.82e-01 2010.05.01 2010.05.01 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 242503529 705708 pilot_1_CHB+JPT_4388606_chr12_54775180 3.82e-01 2010.05.01 2010.05.01 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 244307648 705708 CVDSNP55v1_A_rs705708 3.82e-01 2010.06.10 2010.06.10 2000.10.04 2012.11.28 137 BL 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 255141612 705708 SNP67603_12_54775180 3.82e-01 2010.08.20 2010.08.20 2000.10.04 2012.11.28 137 GMI 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 281408663 705708 GMI_AK_SNP_5729052 3.82e-01 2010.12.16 2010.12.16 2000.10.04 2012.11.28 137 PJP 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 291256981 705708 SNP_763339_chr12_54775180 3.82e-01 2011.01.21 2011.01.21 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 481447270 705708 HumanOmni2.5-4v1_B_rs705708-128_B_R_1663490213 3.82e-01 2012.02.01 2012.02.01 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 481474933 705708 HumanOmniExpress-12v1_C_rs705708-131_B_R_1857146661 3.82e-01 2012.02.01 2012.02.01 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 482454834 705708 HumanOmni1-Quad_v1-0_C_rs705708-131_B_R_1865345563 3.82e-01 2012.02.01 2012.02.01 2000.10.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56488913G>A;NG_011529.1:g.20022G>A;NM_001982.3:c.1860-128G>A 485518768 705708 HumanOmni2.5-4v1_D_rs705708-131_B_R_1857146661 3.82e-01 2012.02.05 2012.02.05 2000.10.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488962A>G;NG_011529.1:g.20071A>G;NM_001982.3:c.1860-79A>G 462884861 187302474 20101123_snps_9052091_chr12_56488962 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56488998T>G;NG_011529.1:g.20107T>G;NM_001982.3:c.1860-43T>G 337368366 141435873 20100804_snps_9011907_chr12_56488998 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56488998T>G;NG_011529.1:g.20107T>G;NM_001982.3:c.1860-43T>G 491044673 141435873 20110521_exome_552471_chr12_56488998 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489024G>T;NG_011529.1:g.20133G>T;NM_001982.3:c.1860-17G>T 488996487 199797901 20110521_exome_173399_chr12_56489024 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56489052C>G;NG_011529.1:g.20161C>G;NM_001982.3:c.1871C>G;NP_001973.2:p.Pro624Arg 342359248 151083303 ESP2500-chr12-56489052 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56489083G>C;NG_011529.1:g.20192G>C;NM_001982.3:c.1902G>C;NP_001973.2:p.Leu634= 74801455 55702663 9251 2007.07.20 2007.07.20 2007.12.06 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56489084G>A;NG_011529.1:g.20193G>A;NM_001982.3:c.1903G>A;NP_001973.2:p.Val635Met 342359249 141054346 ESP2500-chr12-56489084 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489084G>A;NG_011529.1:g.20193G>A;NM_001982.3:c.1903G>A;NP_001973.2:p.Val635Met 488996489 141054346 20110521_exome_173400_chr12_56489084 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56489092C>T;NG_011529.1:g.20201C>T;NM_001982.3:c.1911C>T;NP_001973.2:p.Ile637= 342359250 150262923 ESP2500-chr12-56489092 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489113_56489114insT;NG_011529.1:g.20222_20223insT;NM_001982.3:c.1913+19_1913+20insT 101369877 66488305 INDEL_GP36_2008a_2629925_0 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489113_56489114insT;NG_011529.1:g.20222_20223insT;NM_001982.3:c.1913+19_1913+20insT 101369880 66488305 INDEL_GP36_2008a_2629925_1 2008.05.17 2008.05.17 2009.02.03 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56489113T>G;NG_011529.1:g.20222T>G;NM_001982.3:c.1913+19T>G 337368367 147010683 20100804_snps_9011908_chr12_56489113 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489113T>G;NG_011529.1:g.20222T>G;NM_001982.3:c.1913+19T>G 491044674 147010683 20110521_exome_552472_chr12_56489113 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56489113T>G;NG_011529.1:g.20222T>G;NM_001982.3:c.1913+19T>G 491667124 147010683 SNV-chr12-54775380 5.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56489394A>G;NG_011529.1:g.20503A>G;NM_001982.3:c.1914-55A>G 120255786 75526830 NT_029419.11_18632700 1.40e-03 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489394A>G;NG_011529.1:g.20503A>G;NM_001982.3:c.1914-55A>G 462884862 75526830 20101123_snps_9052092_chr12_56489394 1.40e-03 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56489516G>A;NG_011529.1:g.20625G>A;NM_001982.3:c.1981G>A;NP_001973.2:p.Gly661Ser 342359251 139022684 ESP2500-chr12-56489516 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489526_56489527insA;NG_011529.1:g.20635_20636insA;NM_001982.3:c.1991_1992insA;NP_001973.2:p.Leu664delinsLeuLeufs 102289726 67368571 INDEL_GP36_2008a_2833471_0 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489526_56489527insA;NG_011529.1:g.20635_20636insA;NM_001982.3:c.1991_1992insA;NP_001973.2:p.Leu664delinsLeuLeufs 102289729 67368571 INDEL_GP36_2008a_2833471_1 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489526_56489527insA;NG_011529.1:g.20635_20636insA;NM_001982.3:c.1991_1992insA;NP_001973.2:p.Leu664delinsLeuLeufs 102289731 67368571 INDEL_GP36_2008a_2833471_2 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489526_56489527insA;NG_011529.1:g.20635_20636insA;NM_001982.3:c.1991_1992insA;NP_001973.2:p.Leu664delinsLeuLeufs 102289735 67368571 INDEL_GP36_2008a_2833471_3 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489526_56489527insA;NG_011529.1:g.20635_20636insA;NM_001982.3:c.1991_1992insA;NP_001973.2:p.Leu664delinsLeuLeufs 102289738 67368571 INDEL_GP36_2008a_2833471_4 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 101424276 66590765 INDEL_GP36_2008a_2777458_0 2008.05.17 2008.05.17 2009.02.04 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 101424278 66590765 INDEL_GP36_2008a_2777458_1 2008.05.17 2008.05.17 2009.02.04 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 101424281 66590765 INDEL_GP36_2008a_2777458_2 2008.05.17 2008.05.17 2009.02.04 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 101424283 66590765 INDEL_GP36_2008a_2777458_3 2008.05.17 2008.05.17 2009.02.04 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 101424287 66590765 INDEL_GP36_2008a_2777458_4 2008.05.17 2008.05.17 2009.02.04 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 101424289 66590765 INDEL_GP36_2008a_2777458_5 2008.05.17 2008.05.17 2009.02.04 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 102179108 66590765 INDEL_GP36_2008a_2777632_0 2008.05.18 2008.05.18 2009.02.04 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56489532delG;NG_011529.1:g.20641delG;NM_001982.3:c.1997delG;NP_001973.2:p.Trp666Cysfs 102179110 66590765 INDEL_GP36_2008a_2777632_1 2008.05.18 2008.05.18 2009.02.04 2012.05.11 137 1000GENOMES 2065 NC_000012.11:g.56489540C>T;NG_011529.1:g.20649C>T;NM_001982.3:c.2005C>T;NP_001973.2:p.Arg669Cys 488996491 200724560 20110521_exome_173401_chr12_56489540 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56489576T>C;NG_011529.1:g.20685T>C;NM_001982.3:c.2041T>C;NP_001973.2:p.Leu681= 342359252 142303928 ESP2500-chr12-56489576 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56489582C>T;NG_011529.1:g.20691C>T;NM_001982.3:c.2047C>T;NP_001973.2:p.Arg683Trp 74801456 56387488 8696 2007.07.20 2007.07.20 2007.12.08 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56489582C>T;NG_011529.1:g.20691C>T;NM_001982.3:c.2047C>T;NP_001973.2:p.Arg683Trp 342359253 56387488 ESP2500-chr12-56489582 2011.03.26 2011.03.26 2007.12.08 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56489582C>T;NG_011529.1:g.20691C>T;NM_001982.3:c.2047C>T;NP_001973.2:p.Arg683Trp 491469464 56387488 nonsyn_185690_chr_12_56489582 2012.03.05 2012.03.05 2007.12.08 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489613T>C;NG_011529.1:g.20722T>C;NM_001982.3:c.2055+23T>C 337368368 138072655 20100804_snps_9011909_chr12_56489613 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489613T>C;NG_011529.1:g.20722T>C;NM_001982.3:c.2055+23T>C 491044675 138072655 20110521_exome_552473_chr12_56489613 3.70e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56489613T>C;NG_011529.1:g.20722T>C;NM_001982.3:c.2055+23T>C 491667125 138072655 SNV-chr12-54775880 3.70e-03 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489793A>G;NG_011529.1:g.20902A>G;NM_001982.3:c.2055+203A>G 462884863 184532952 20101123_snps_9052093_chr12_56489793 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56489798A>T;NG_011529.1:g.20907A>T;NM_001982.3:c.2055+208A>T 337368369 141742993 20100804_snps_9011910_chr12_56489798 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56489912C>G;NG_011529.1:g.21021C>G;NM_001982.3:c.2055+322C>G 462884864 189413187 20101123_snps_9052094_chr12_56489912 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56489950T>C;NG_011529.1:g.21059T>C;NM_001982.3:c.2056-337T>C 462884865 192151273 20101123_snps_9052095_chr12_56489950 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 2065 NC_000012.11:g.56489954delA;NG_011529.1:g.21063delA;NM_001982.3:c.2056-333delA 104689631 75770904 BGI_YHIndel16208 5.72e-02 2008.06.09 2009.06.16 2009.12.01 2012.11.28 137 GMI 2065 NC_000012.11:g.56489954delA;NG_011529.1:g.21063delA;NM_001982.3:c.2056-333delA 289130227 75770904 GMI_AK_INDEL_803737 5.72e-02 2010.12.27 2011.12.28 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489954delA;NG_011529.1:g.21063delA;NM_001982.3:c.2056-333delA 327441883 75770904 JPTCHB_chr12_54776220_indel 5.72e-02 2011.03.12 2011.04.03 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56489954delA;NG_011529.1:g.21063delA;NM_001982.3:c.2056-333delA 499756326 75770904 20110316_indels_chr12_56489953_56489953 5.72e-02 2012.03.20 2012.03.20 2009.12.01 2012.11.28 137 GMI 2065 NC_000012.11:g.56490030G>A;NG_011529.1:g.21139G>A;NM_001982.3:c.2056-257G>A 281408664 150528532 GMI_AK_SNP_5729053 5.00e-04 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490030G>A;NG_011529.1:g.21139G>A;NM_001982.3:c.2056-257G>A 337368370 150528532 20100804_snps_9011911_chr12_56490030 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490147T>C;NG_011529.1:g.21256T>C;NM_001982.3:c.2056-140T>C 337368371 138429725 20100804_snps_9011912_chr12_56490147 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56490181C>T;NG_011529.1:g.21290C>T;NM_001982.3:c.2056-106C>T 462884866 184780602 20101123_snps_9052096_chr12_56490181 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WTCCC 2065 NC_000012.11:g.56490185C>T;NG_011529.1:g.21294C>T;NM_001982.3:c.2056-102C>T 120257140 75347662 NT_029419.11_18633491 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56490214C>T;NG_011529.1:g.21323C>T;NM_001982.3:c.2056-73C>T 337368372 149279640 20100804_snps_9011913_chr12_56490214 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56490272C>T;NG_011529.1:g.21381C>T;NM_001982.3:c.2056-15C>T 462884867 189193848 20101123_snps_9052097_chr12_56490272 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490272C>T;NG_011529.1:g.21381C>T;NM_001982.3:c.2056-15C>T 491044676 189193848 20110521_exome_552474_chr12_56490272 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56490289C>G;NG_011529.1:g.21398C>G;NM_001982.3:c.2058C>G;NP_001973.2:p.Ser686Arg 342359254 138548737 ESP2500-chr12-56490289 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56490306C>A;NG_011529.1:g.21415C>A;NM_001982.3:c.2075C>A;NP_001973.2:p.Pro692His 462884868 181659329 20101123_snps_9052098_chr12_56490306 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490306C>A;NG_011529.1:g.21415C>A;NM_001982.3:c.2075C>A;NP_001973.2:p.Pro692His 491044677 181659329 20110521_exome_552475_chr12_56490306 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56490379C>T;NG_011529.1:g.21488C>T;NM_001982.3:c.2148C>T;NP_001973.2:p.Gly716= 120257588 79293052 NT_029419.11_18633685 2009.04.10 2009.04.24 2009.12.01 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 48533442 35961836 NC_000012.9_54776648 1.40e-03 2005.10.20 2005.11.29 2006.03.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 74994422 35961836 ILMN_Human_1M_rs35961836 1.40e-03 2007.08.29 2007.08.29 2006.03.15 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 119919884 35961836 KHS1918090 1.40e-03 2009.02.06 2009.02.06 2006.03.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 160629734 35961836 HumanOmni1-Quad_v1-0_B_rs35961836-128_B_F_1513975900 1.40e-03 2009.08.06 2009.10.04 2006.03.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 173607124 35961836 Human1M-Duov3_B_rs35961836-128_B_F_1513975900 1.40e-03 2009.10.04 2009.10.04 2006.03.15 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 342359255 35961836 ESP2500-chr12-56490381 1.40e-03 2011.03.26 2011.03.26 2006.03.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 462884869 35961836 20101123_snps_9052099_chr12_56490381 1.40e-03 2011.07.20 2011.07.20 2006.03.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 480795939 35961836 HumanOmni2.5-4v1_B_rs35961836-128_B_F_1735652909 1.40e-03 2012.01.31 2012.01.31 2006.03.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 480811621 35961836 HumanOmniExpress-12v1_C_rs35961836-131_B_F_1857459608 1.40e-03 2012.01.31 2012.01.31 2006.03.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 481733750 35961836 HumanOmni1-Quad_v1-0_C_rs35961836-131_B_F_1857459608 1.40e-03 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 485192739 35961836 HumanOmni2.5-4v1_D_rs35961836-131_B_F_1857459608 1.40e-03 2012.02.04 2012.02.04 2006.03.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 491044678 35961836 20110521_exome_552476_chr12_56490381 1.40e-03 2012.02.22 2012.02.22 2006.03.15 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 491469465 35961836 nonsyn_185691_chr_12_56490381 1.40e-03 2012.03.05 2012.03.05 2006.03.15 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56490381C>T;NG_011529.1:g.21490C>T;NM_001982.3:c.2150C>T;NP_001973.2:p.Ser717Leu 491667126 35961836 SNV-chr12-54776648 1.40e-03 2012.03.06 2012.03.12 2006.03.15 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490398G>C;NG_011529.1:g.21507G>C;NM_001982.3:c.2167G>C;NP_001973.2:p.Val723Leu 462884870 189789018 20101123_snps_9052100_chr12_56490398 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490398G>C;NG_011529.1:g.21507G>C;NM_001982.3:c.2167G>C;NP_001973.2:p.Val723Leu 491044679 189789018 20110521_exome_552477_chr12_56490398 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56490398G>C;NG_011529.1:g.21507G>C;NM_001982.3:c.2167G>C;NP_001973.2:p.Val723Leu 491469466 189789018 nonsyn_185692_chr_12_56490398 1.40e-03 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56490462T>C;NG_011529.1:g.21571T>C;NM_001982.3:c.2175+56T>C 198225138 111349488 BUSHMAN-chr12-54776728 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 DEVINE_LAB 2065 NC_000012.11:g.56490517_56490518insC;NG_011529.1:g.21626_21627insC;NM_001982.3:c.2176-15_2176-14insC 100011144 66590660 INDEL_GP36_2008a_2630132_0 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490517_56490518insC;NG_011529.1:g.21626_21627insC;NM_001982.3:c.2176-15_2176-14insC 100011147 66590660 INDEL_GP36_2008a_2630132_1 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490517_56490518insC;NG_011529.1:g.21626_21627insC;NM_001982.3:c.2176-15_2176-14insC 100011152 66590660 INDEL_GP36_2008a_2630132_2 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490517_56490518insC;NG_011529.1:g.21626_21627insC;NM_001982.3:c.2176-15_2176-14insC 100011156 66590660 INDEL_GP36_2008a_2630132_3 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490517_56490518insC;NG_011529.1:g.21626_21627insC;NM_001982.3:c.2176-15_2176-14insC 100011160 66590660 INDEL_GP36_2008a_2630132_4 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490517_56490518insC;NG_011529.1:g.21626_21627insC;NM_001982.3:c.2176-15_2176-14insC 100011163 66590660 INDEL_GP36_2008a_2630132_5 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56490587T>C;NG_011529.1:g.21696T>C;NM_001982.3:c.2231T>C;NP_001973.2:p.Ile744Thr 74803403 55787439 9195 2007.07.20 2007.07.20 2007.12.06 2011.07.08 137 TSC-CSHL 2065 NC_000012.11:g.56490628G>C;NG_011529.1:g.21737G>C;NM_001982.3:c.2272G>C;NP_001973.2:p.Asp758His 157520 3891921 TSC0077811 2002.09.21 2003.10.10 2002.10.10 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56490628G>C;NG_011529.1:g.21737G>C;NM_001982.3:c.2272G>C;NP_001973.2:p.Asp758His 5794613 3891921 NT_009458.11_530065 2003.01.11 2003.10.10 2002.10.10 2012.11.28 137 AFFY 2065 NC_000012.11:g.56490628G>C;NG_011529.1:g.21737G>C;NM_001982.3:c.2272G>C;NP_001973.2:p.Asp758His 74820772 3891921 SNP_M-323921 2007.08.09 2007.08.09 2002.10.10 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490628G>C;NG_011529.1:g.21737G>C;NM_001982.3:c.2272G>C;NP_001973.2:p.Asp758His 160653088 3891921 HumanOmni1-Quad_v1-0_B_rs3891921-128_B_F_1562343196 2009.08.06 2009.10.04 2002.10.10 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56490628G>C;NG_011529.1:g.21737G>C;NM_001982.3:c.2272G>C;NP_001973.2:p.Asp758His 481826940 3891921 HumanOmni1-Quad_v1-0_C_rs3891921-131_B_F_1863363606 2012.02.01 2012.02.01 2002.10.10 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490656G>A;NG_011529.1:g.21765G>A;NM_001982.3:c.2274+26G>A 462884871 181291405 20101123_snps_9052101_chr12_56490656 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490656G>A;NG_011529.1:g.21765G>A;NM_001982.3:c.2274+26G>A 491044680 181291405 20110521_exome_552478_chr12_56490656 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490747G>T;NG_011529.1:g.21856G>T;NM_001982.3:c.2275-82G>T 462884872 186183394 20101123_snps_9052102_chr12_56490747 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56490794T>C;NG_011529.1:g.21903T>C;NM_001982.3:c.2275-35T>C 337368373 144436014 20100804_snps_9011914_chr12_56490794 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490794T>C;NG_011529.1:g.21903T>C;NM_001982.3:c.2275-35T>C 491044681 144436014 20110521_exome_552479_chr12_56490794 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56490812C>A;NG_011529.1:g.21921C>A;NM_001982.3:c.2275-17C>A 491667127 200173838 SNV-chr12-54777079 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490820G>C;NG_011529.1:g.21929G>C;NM_001982.3:c.2275-9G>C 337368374 139140702 20100804_snps_9011915_chr12_56490820 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490820G>C;NG_011529.1:g.21929G>C;NM_001982.3:c.2275-9G>C 491044682 139140702 20110521_exome_552480_chr12_56490820 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490822C>T;NG_011529.1:g.21931C>T;NM_001982.3:c.2275-7C>T 488996493 199876654 20110521_exome_173402_chr12_56490822 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 PJP 2065 NC_000012.11:g.56490828G>A;NG_011529.1:g.21937G>A;NM_001982.3:c.2275-1G>A 291256982 141277406 SNP_763340_chr12_54777095 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490846delC;NG_011529.1:g.21955delC;NM_001982.3:c.2292delC;NP_001973.2:p.Gly764=fs 100872634 67833389 INDEL_GP36_2008a_2777367_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490846delC;NG_011529.1:g.21955delC;NM_001982.3:c.2292delC;NP_001973.2:p.Gly764=fs 100872637 67833389 INDEL_GP36_2008a_2777367_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490846delC;NG_011529.1:g.21955delC;NM_001982.3:c.2292delC;NP_001973.2:p.Gly764=fs 100872640 67833389 INDEL_GP36_2008a_2777367_2 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490846delC;NG_011529.1:g.21955delC;NM_001982.3:c.2292delC;NP_001973.2:p.Gly764=fs 100872643 67833389 INDEL_GP36_2008a_2777367_3 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56490893G>A;NG_011529.1:g.22002G>A;NM_001982.3:c.2339G>A;NP_001973.2:p.Gly780Glu 488996495 202221237 20110521_exome_173403_chr12_56490893 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56490893G>A;NG_011529.1:g.22002G>A;NM_001982.3:c.2339G>A;NP_001973.2:p.Gly780Glu 491469467 202221237 nonsyn_185693_chr_12_56490893 0 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490894G>A;NG_011529.1:g.22003G>A;NM_001982.3:c.2340G>A;NP_001973.2:p.Gly780= 488996497 201309981 20110521_exome_173404_chr12_56490894 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56490925delC;NG_011529.1:g.22034delC;NM_001982.3:c.2371delC;NP_001973.2:p.Pro791Leufs 101984516 67651310 INDEL_GP36_2008a_2785781_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490925delC;NG_011529.1:g.22034delC;NM_001982.3:c.2371delC;NP_001973.2:p.Pro791Leufs 101984520 67651310 INDEL_GP36_2008a_2785781_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56490925delC;NG_011529.1:g.22034delC;NM_001982.3:c.2371delC;NP_001973.2:p.Pro791Leufs 101984523 67651310 INDEL_GP36_2008a_2785781_2 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56490937C>G;NG_011529.1:g.22046C>G;NM_001982.3:c.2383C>G;NP_001973.2:p.Leu795Val 342359256 144510847 ESP2500-chr12-56490937 1.80e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490937C>G;NG_011529.1:g.22046C>G;NM_001982.3:c.2383C>G;NP_001973.2:p.Leu795Val 462884873 144510847 20101123_snps_9052103_chr12_56490937 1.80e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490937C>G;NG_011529.1:g.22046C>G;NM_001982.3:c.2383C>G;NP_001973.2:p.Leu795Val 491044683 144510847 20110521_exome_552481_chr12_56490937 1.80e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56490937C>G;NG_011529.1:g.22046C>G;NM_001982.3:c.2383C>G;NP_001973.2:p.Leu795Val 491469468 144510847 nonsyn_185694_chr_12_56490937 1.80e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56490958C>T;NG_011529.1:g.22067C>T;NM_001982.3:c.2404C>T;NP_001973.2:p.His802Tyr 342359257 148448153 ESP2500-chr12-56490958 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56490965G>T;NG_011529.1:g.22074G>T;NM_001982.3:c.2411G>T;NP_001973.2:p.Gly804Val 462884874 182154425 20101123_snps_9052104_chr12_56490965 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56490965G>T;NG_011529.1:g.22074G>T;NM_001982.3:c.2411G>T;NP_001973.2:p.Gly804Val 491044684 182154425 20110521_exome_552482_chr12_56490965 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56490967G>C;NG_011529.1:g.22076G>C;NM_001982.3:c.2413G>C;NP_001973.2:p.Ala805Pro 133183833 80185484 ENSSNP10616200 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 BUSHMAN 2065 NC_000012.11:g.56490972G>C;NG_011529.1:g.22081G>C;NM_001982.3:c.2418G>C;NP_001973.2:p.Leu806= 198225141 113375878 BUSHMAN-chr12-54777238 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56491042A>G;NG_011529.1:g.22151A>G;NM_001982.3:c.2460+28A>G 488996499 200256095 20110521_exome_173405_chr12_56491042 1.40e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491190C>T;NG_011529.1:g.22299C>T;NM_001982.3:c.2460+176C>T 225768594 115053296 pilot_1_YRI_7578277_chr12_54777457 3.70e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491271G>A;NG_011529.1:g.22380G>A;NM_001982.3:c.2460+257G>A 462884875 186476586 20101123_snps_9052105_chr12_56491271 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 2065 NC_000012.11:g.56491415C>T;NG_011529.1:g.22524C>T;NM_001982.3:c.2461-154C>T 40104177 34986935 hCV32454954 2005.07.16 2005.07.16 2006.03.14 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491415C>T;NG_011529.1:g.22524C>T;NM_001982.3:c.2461-154C>T 74965495 34986935 ILMN_Human_1M_rs34986935 2007.08.29 2007.08.29 2006.03.14 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56491415C>T;NG_011529.1:g.22524C>T;NM_001982.3:c.2461-154C>T 119913962 34986935 KHS1915194 2009.02.05 2009.02.05 2006.03.14 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56491510C>G;NG_011529.1:g.22619C>G;NM_001982.3:c.2461-59C>G 11306700 7488167 chr12.NT_029419.10_18634816 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491580C>T;NG_011529.1:g.22689C>T;NM_001982.3:c.2472C>T;NP_001973.2:p.Tyr824= 488996501 201892971 20110521_exome_173406_chr12_56491580 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491637G>A;NG_011529.1:g.22746G>A;NM_001982.3:c.2529G>A;NP_001973.2:p.Lys843= 488996503 201149603 20110521_exome_173407_chr12_56491637 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56491640A>T;NG_011529.1:g.22749A>T;NM_001982.3:c.2532A>T;NP_001973.2:p.Ser844= 342359258 141739894 ESP2500-chr12-56491640 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56491640A>T;NG_011529.1:g.22749A>T;NM_001982.3:c.2532A>T;NP_001973.2:p.Ser844= 491667128 141739894 SNV-chr12-54777907 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56491641C>G;NG_011529.1:g.22750C>G;NM_001982.3:c.2533C>G;NP_001973.2:p.Pro845Ala 342359259 147206496 ESP2500-chr12-56491641 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56491704C>T;NG_011529.1:g.22813C>T;NM_001982.3:c.2596C>T;NP_001973.2:p.Leu866= 342359260 140606920 ESP2500-chr12-56491704 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56491714G>A;NG_011529.1:g.22823G>A;NM_001982.3:c.2606G>A;NP_001973.2:p.Ser869Asn 337368375 143021252 20100804_snps_9011916_chr12_56491714 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491714G>A;NG_011529.1:g.22823G>A;NM_001982.3:c.2606G>A;NP_001973.2:p.Ser869Asn 491044685 143021252 20110521_exome_552483_chr12_56491714 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491740G>C;NG_011529.1:g.22849G>C;NM_001982.3:c.2616+16G>C 337368376 76079275 20100804_snps_9011917_chr12_56491740 1.14e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491740G>C;NG_011529.1:g.22849G>C;NM_001982.3:c.2616+16G>C 491044686 76079275 20110521_exome_552484_chr12_56491740 1.14e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56491740G>C;NG_011529.1:g.22849G>C;NM_001982.3:c.2616+16G>C 491667129 76079275 SNV-chr12-54778007 1.14e-02 2012.03.06 2012.03.12 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491753G>A;NG_011529.1:g.22862G>A;NM_001982.3:c.2616+29G>A 161047247 75518415 HumanOmni1-Quad_v1-0_B_SNP12-54778020-0_T_F_1588269148 5.00e-04 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491753G>A;NG_011529.1:g.22862G>A;NM_001982.3:c.2616+29G>A 479254733 75518415 HumanOmni1-Quad_v1-0_C_kgp19106695-0_T_F_1830857239 5.00e-04 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491753G>A;NG_011529.1:g.22862G>A;NM_001982.3:c.2616+29G>A 488996505 75518415 20110521_exome_173408_chr12_56491753 5.00e-04 variation has been flagged as failed by submitter 2012.02.13 2012.02.13 2009.12.01 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56491756G>A;NG_011529.1:g.22865G>A;NM_001982.3:c.2616+32G>A 491667130 200457259 SNV-chr12-54778023 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 16233224 10783779 NT_029419.10_18635186 3.79e-01 2003.11.18 2003.11.22 2004.02.27 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 16589673 10783779 CSHL-HuAA-200402.chr12.NT_029419.10_18635186 3.79e-01 2004.02.17 2004.05.17 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 18217986 10783779 SC-CHR1_NA17109-200402.chr12.NT_029419.10_18635186 3.79e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 18534888 10783779 SC-CHR9-12_NA11321-200402.chr12.NT_029419.10_18635186 3.79e-01 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 ABI 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 40204555 10783779 hCV26035943 3.79e-01 2005.07.16 2005.07.16 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 66571244 10783779 HumanHap300v1.1_rs10783779 3.79e-01 2006.11.09 2006.11.09 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 66899667 10783779 HumanHap550v1.1_rs10783779 3.79e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 67016756 10783779 HumanHap650Yv1.0_rs10783779 3.79e-01 2006.11.14 2006.11.14 2004.02.27 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 69109879 10783779 PGP13111990 3.79e-01 2007.01.30 2008.03.31 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 70379371 10783779 HumanHap300v2.0_rs10783779 3.79e-01 2007.04.18 2007.11.18 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 70497072 10783779 HumanHap550v3.0__rs10783779 3.79e-01 2007.04.20 2008.03.30 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 71022436 10783779 HumanHap650Yv3.0_rs10783779 3.79e-01 2007.04.23 2007.04.23 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 74932926 10783779 ILMN_Human_1M_rs10783779 3.79e-01 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 HGSV 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 77331970 10783779 Cor12156_SNV_20070510.chr12_54778147 3.79e-01 2007.10.10 2007.10.12 2004.02.27 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 84996780 10783779 KHS869921 3.79e-01 2007.12.08 2007.12.08 2004.02.27 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 89171144 10783779 JWB-0563543 3.79e-01 2008.02.28 2008.02.28 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 111981347 10783779 CEU.trio.12.15.2008_2741457_chr12_54778147 3.79e-01 2008.12.17 2008.12.17 2004.02.27 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 118828036 10783779 NA18507_000071858_NCBI36.1_chr12_54778147 3.79e-01 2009.01.21 2009.01.21 2004.02.27 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 120253638 10783779 NT_029419.11_18635186 3.79e-01 2009.04.10 2009.04.24 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 121386714 10783779 HumanCNV370v1_C_rs10783779 3.79e-01 2009.04.14 2009.04.14 2004.02.27 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 133183836 10783779 ENSSNP10616201 3.79e-01 2009.05.12 2009.05.14 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 152819946 10783779 Human610_Quadv1_B_rs10783779-128_B_F_1501609345 3.79e-01 2009.06.18 2009.06.19 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 157508012 10783779 GMI_SNP_31276652 3.79e-01 2009.06.25 2009.06.25 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 159141935 10783779 Human660W-Quad_v1_A_rs10783779-128_B_F_1501609345 3.79e-01 2009.07.06 2009.07.06 2004.02.27 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 161535568 10783779 ENSSNP760581 3.79e-01 2009.09.25 2009.09.25 2004.02.27 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 168344973 10783779 NA07022_36_chr12_54778147 3.79e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 169613315 10783779 HumanCNV370-Quadv3_C_rs10783779-128_B_F_1501609345 3.79e-01 2009.10.01 2009.10.02 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 170518773 10783779 Human1M-Duov3_B_rs10783779-128_B_F_1501609345 3.79e-01 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 198225147 10783779 BUSHMAN-chr12-54778146 3.79e-01 2010.03.06 2010.03.06 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 225768596 10783779 pilot_1_YRI_7578279_chr12_54778147 3.79e-01 2010.04.22 2010.04.22 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 235946057 10783779 pilot_1_CEU_5550686_chr12_54778147 3.79e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 242503530 10783779 pilot_1_CHB+JPT_4388607_chr12_54778147 3.79e-01 2010.05.01 2010.05.01 2004.02.27 2012.11.28 137 GMI 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 281408665 10783779 GMI_AK_SNP_5729054 3.79e-01 2010.12.16 2010.12.16 2004.02.27 2012.11.28 137 PJP 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 291256983 10783779 SNP_763341_chr12_54778147 3.79e-01 2011.01.21 2011.01.21 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 479346836 10783779 HumanOmni2.5-4v1_B_rs10783779-128_B_F_1663490211 3.79e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 479350053 10783779 HumanOmniExpress-12v1_C_rs10783779-131_B_F_1857143994 3.79e-01 2012.01.30 2012.01.30 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56491880T>G;NG_011529.1:g.22989T>G;NM_001982.3:c.2616+156T>G 484473656 10783779 HumanOmni2.5-4v1_D_rs10783779-131_B_F_1857143994 3.79e-01 2012.02.03 2012.02.03 2004.02.27 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56491955A>G;NG_011529.1:g.23064A>G;NM_001982.3:c.2616+231A>G 462884876 190971519 20101123_snps_9052106_chr12_56491955 1.19e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56491960G>A;NG_011529.1:g.23069G>A;NM_001982.3:c.2616+236G>A 169932195 112650407 NA19240_36_chr12_54778227 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56491985A>G;NG_011529.1:g.23094A>G;NM_001982.3:c.2616+261A>G 337368377 140116753 20100804_snps_9011918_chr12_56491985 2.38e-02 2011.03.22 2011.03.22 2011.05.09 2011.10.06 137 MPI_MOLGEN 2065 NC_000012.11:g.56491985A>G;NG_011529.1:g.23094A>G;NM_001982.3:c.2616+261A>G 469216785 140116753 Chromosome12_54778252 2.38e-02 2011.08.15 2011.08.15 2011.05.09 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56492001G>A;NG_011529.1:g.23110G>A;NM_001982.3:c.2616+277G>A 462884877 183131399 20101123_snps_9052107_chr12_56492001 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56492013C>T;NG_011529.1:g.23122C>T;NM_001982.3:c.2617-271C>T 462884878 188643309 20101123_snps_9052108_chr12_56492013 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 77974630 56112932 Cor12156_DIV_20070510.chr12_54778311-54778314_1 2007.10.16 2007.10.16 2007.12.07 2012.11.28 137 HGSV 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 82408046 56112932 Cor19240_DIV_20070510.chr12_54778311-54778314_1 2007.12.02 2007.12.02 2007.12.07 2012.11.28 137 HGSV 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 82437480 56112932 Cor19240_DIV_20070510.chr12_54778311-54778314_2 2007.12.02 2007.12.02 2007.12.07 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 94427639 63107461 INDEL_GP36_2008a_76939_1 2008.03.06 2008.05.17 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 94427643 63107461 INDEL_GP36_2008a_76939_2 2008.03.06 2008.05.17 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 94427647 63107461 INDEL_GP36_2008a_76939_3 2008.03.06 2008.05.17 2008.05.25 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 95597501 56112932 1104685052996 2008.03.22 2008.12.03 2007.12.07 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 99318984 56112932 INDEL_GP36_2007a_54768_0 2008.05.04 2008.05.04 2007.12.07 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 99370141 63107461 INDEL_GP36_2007a_121463_0 2008.05.05 2008.05.05 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 99431584 63107461 INDEL_GP36_2007a_76939_0 2008.05.05 2008.05.05 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 99670614 63107461 INDEL_GP36_2007a_77301_0 2008.05.05 2008.05.05 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 99800122 63107461 INDEL_GP36_2007a_872803_0 2008.05.06 2008.05.06 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 100107741 56112932 INDEL_GP36_2008a_54768_1 2008.05.16 2008.05.16 2007.12.07 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 100556582 63107461 INDEL_GP36_2008a_2249460_0 2008.05.16 2008.05.16 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 100840076 63107461 INDEL_GP36_2008a_2247530_0 2008.05.17 2008.05.17 2008.05.25 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 101374405 63107461 INDEL_GP36_2008a_76939_4 2008.05.17 2008.05.17 2008.05.25 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 193279885 63107461 BUSHMAN-chr12-54778299-54778301 2010.02.16 2010.02.16 2008.05.25 2012.11.28 137 GMI 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 289130228 63107461 GMI_AK_INDEL_803738 2010.12.27 2011.12.28 2008.05.25 2012.11.28 137 GMI 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 289130229 56112932 GMI_AK_INDEL_803739 2010.12.27 2011.12.28 2007.12.07 2012.11.28 137 PJP 2065 NC_000012.11:g.56492033delA;NC_000012.11:g.56492033delAinsAA;NG_011529.1:g.23142delA;NG_011529.1:g.23142delAinsAA;NM_001982.3:c.2617-251delA;NM_001982.3:c.2617-251delAinsAA 294753866 63107461 DIP_191570_chr12_54778300 2011.01.22 2011.01.22 2008.05.25 2012.11.28 137 PJP 2065 NC_000012.11:g.56492033_56492034delAA;NG_011529.1:g.23142_23143delAA;NM_001982.3:c.2617-251_2617-250delAA 294753867 56112932 DIP_191571_chr12_54778312 2011.01.22 2011.01.22 2007.12.07 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56492046delA;NC_000012.11:g.56492046delAinsAAA;NG_011529.1:g.23155delA;NG_011529.1:g.23155delAinsAAA;NM_001982.3:c.2617-238delA;NM_001982.3:c.2617-238delAinsAAA 101001871 67991366 INDEL_GP36_2008a_1043276_0 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 DEVINE_LAB 2065 NC_000012.11:g.56492046delA;NC_000012.11:g.56492046delAinsAAA;NG_011529.1:g.23155delA;NG_011529.1:g.23155delAinsAAA;NM_001982.3:c.2617-238delA;NM_001982.3:c.2617-238delAinsAAA 101001872 67991366 INDEL_GP36_2008a_1043276_1 2008.05.17 2008.05.17 2009.02.06 2012.05.16 137 BCMHGSC_JDW 2065 NC_000012.11:g.56492046delA;NC_000012.11:g.56492046delAinsAAA;NG_011529.1:g.23155delA;NG_011529.1:g.23155delAinsAAA;NM_001982.3:c.2617-238delA;NM_001982.3:c.2617-238delAinsAAA 103532744 67991366 JWB-4028040 2008.06.06 2009.05.11 2009.02.06 2012.05.16 137 ENSEMBL 2065 NC_000012.11:g.56492195C>A;NG_011529.1:g.23304C>A;NM_001982.3:c.2617-89C>A 133183839 74647738 ENSSNP10616202 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 ENSEMBL 2065 NC_000012.11:g.56492196A>C;NG_011529.1:g.23305A>C;NM_001982.3:c.2617-88A>C 133183842 77351535 ENSSNP10616203 2009.05.12 2009.05.14 2009.12.01 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56492240A>G;NG_011529.1:g.23349A>G;NM_001982.3:c.2617-44A>G 462884879 192782355 20101123_snps_9052109_chr12_56492240 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56492463A>G;NG_011529.1:g.23572A>G;NM_001982.3:c.2693-80A>G 337368378 142393525 20100804_snps_9011919_chr12_56492463 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56492481C>T;NG_011529.1:g.23590C>T;NM_001982.3:c.2693-62C>T 462884880 183290419 20101123_snps_9052110_chr12_56492481 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 2065 NC_000012.11:g.56492587G>A;NG_011529.1:g.23696G>A;NM_001982.3:c.2737G>A;NP_001973.2:p.Ala913Thr 342359261 144558290 ESP2500-chr12-56492587 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56492592G>A;NG_011529.1:g.23701G>A;NM_001982.3:c.2742G>A;NP_001973.2:p.Gly914= 488996507 199524175 20110521_exome_173409_chr12_56492592 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 GRONBERG_MEB 2065 NM_001982.3:c.2802G>C NC_000012.11:g.56492652G>C;NG_011529.1:g.23761G>C;NM_001982.3:c.2802G>C;NP_001973.2:p.Gln934His 472334169 193920754 NM_001982.3:c.2802G>C germline untested 2011.11.10 2011.11.14 2011.11.14 2012.09.29 137 DEVINE_LAB 2065 NC_000012.11:g.56492729_56492730insC;NG_011529.1:g.23838_23839insC;NM_001982.3:c.2839+40_2839+41insC 102450011 66667540 INDEL_GP36_2008a_2745372_0 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56492729_56492730insC;NG_011529.1:g.23838_23839insC;NM_001982.3:c.2839+40_2839+41insC 102450012 66667540 INDEL_GP36_2008a_2745372_1 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56492729_56492730insC;NG_011529.1:g.23838_23839insC;NM_001982.3:c.2839+40_2839+41insC 102450015 66667540 INDEL_GP36_2008a_2745372_2 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56492729_56492730insC;NG_011529.1:g.23838_23839insC;NM_001982.3:c.2839+40_2839+41insC 102450016 66667540 INDEL_GP36_2008a_2745372_3 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56492729_56492730insC;NG_011529.1:g.23838_23839insC;NM_001982.3:c.2839+40_2839+41insC 102450018 66667540 INDEL_GP36_2008a_2745372_4 2008.05.18 2008.05.18 2009.02.04 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56492829G>A;NG_011529.1:g.23938G>A;NM_001982.3:c.2839+140G>A 337368379 151309290 20100804_snps_9011920_chr12_56492829 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56492844G>C;NG_011529.1:g.23953G>C;NM_001982.3:c.2839+155G>C 337368380 139301776 20100804_snps_9011921_chr12_56492844 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56492941T>G;NG_011529.1:g.24050T>G;NM_001982.3:c.2839+252T>G 337368381 150022316 20100804_snps_9011922_chr12_56492941 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56492971C>G;NG_011529.1:g.24080C>G;NM_001982.3:c.2839+282C>G 462884881 187874555 20101123_snps_9052111_chr12_56492971 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56493021T>G;NG_011529.1:g.24130T>G;NM_001982.3:c.2839+332T>G 235946058 118067691 pilot_1_CEU_5550687_chr12_54779288 2.56e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56493032G>T;NG_011529.1:g.24141G>T;NM_001982.3:c.2839+343G>T 235946059 116905410 pilot_1_CEU_5550688_chr12_54779299 2.56e-02 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56493065C>T;NG_011529.1:g.24174C>T;NM_001982.3:c.2840-367C>T 462884882 192748125 20101123_snps_9052112_chr12_56493065 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56493075C>T;NG_011529.1:g.24184C>T;NM_001982.3:c.2840-357C>T 242503531 116991809 pilot_1_CHB+JPT_4388608_chr12_54779342 6.90e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56493112C>T;NG_011529.1:g.24221C>T;NM_001982.3:c.2840-320C>T 462884883 183578416 20101123_snps_9052113_chr12_56493112 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56493160T>C;NG_011529.1:g.24269T>C;NM_001982.3:c.2840-272T>C 337368385 147646980 20100804_snps_9011926_chr12_56493160 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 2065 NC_000012.11:g.56493224G>A;NG_011529.1:g.24333G>A;NM_001982.3:c.2840-208G>A 139128717 77322483 ENSSNP12405695 2009.05.18 2009.05.18 2009.12.01 2011.07.08 137 ENSEMBL 2065 NC_000012.11:g.56493224G>A;NG_011529.1:g.24333G>A;NM_001982.3:c.2840-208G>A 139580203 77322483 ENSSNP3478197 2009.05.19 2009.10.16 2009.12.01 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56493311G>A;NG_011529.1:g.24420G>A;NM_001982.3:c.2840-121G>A 462884884 189445979 20101123_snps_9052114_chr12_56493311 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56493318G>A;NG_011529.1:g.24427G>A;NM_001982.3:c.2840-114G>A 462884885 192491617 20101123_snps_9052115_chr12_56493318 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56493403T>C;NG_011529.1:g.24512T>C;NM_001982.3:c.2840-29T>C 488996509 201842812 20110521_exome_173410_chr12_56493403 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 HGSV 2065 NC_000012.11:g.56493476G>A;NG_011529.1:g.24585G>A;NM_001982.3:c.2884G>A;NP_001973.2:p.Ala962Thr 85101891 60586767 Cor19240_SNV_20070510.chr12_54779743 2007.12.08 2007.12.08 2007.12.16 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56493604A>T;NG_011529.1:g.24713A>T;NM_001982.3:c.2938-18A>T 488996511 200767056 20110521_exome_173411_chr12_56493604 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56493663T>C;NG_011529.1:g.24772T>C;NM_001982.3:c.2979T>C;NP_001973.2:p.His993= 198225153 111656432 BUSHMAN-chr12-54779929 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 CANCER-GENOME 2065 NC_000012.11:g.56493677A>G;NG_011529.1:g.24786A>G;NM_001982.3:c.2993A>G;NP_001973.2:p.Lys998Arg 74803404 56259600 8695 9.00e-04 2007.07.20 2007.07.20 2007.12.07 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56493677A>G;NG_011529.1:g.24786A>G;NM_001982.3:c.2993A>G;NP_001973.2:p.Lys998Arg 337368386 56259600 20100804_snps_9011927_chr12_56493677 9.00e-04 2011.03.22 2011.03.22 2007.12.07 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56493677A>G;NG_011529.1:g.24786A>G;NM_001982.3:c.2993A>G;NP_001973.2:p.Lys998Arg 342359262 56259600 ESP2500-chr12-56493677 9.00e-04 2011.03.26 2011.03.26 2007.12.07 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56493677A>G;NG_011529.1:g.24786A>G;NM_001982.3:c.2993A>G;NP_001973.2:p.Lys998Arg 491044687 56259600 20110521_exome_552485_chr12_56493677 9.00e-04 2012.02.22 2012.02.22 2007.12.07 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56493677A>G;NG_011529.1:g.24786A>G;NM_001982.3:c.2993A>G;NP_001973.2:p.Lys998Arg 491469469 56259600 nonsyn_185695_chr_12_56493677 9.00e-04 2012.03.05 2012.03.05 2007.12.07 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56493677A>G;NG_011529.1:g.24786A>G;NM_001982.3:c.2993A>G;NP_001973.2:p.Lys998Arg 491667131 56259600 SNV-chr12-54779944 9.00e-04 2012.03.06 2012.03.12 2007.12.07 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56493741G>C;NG_011529.1:g.24850G>C;NM_001982.3:c.3057G>C;NP_001973.2:p.Glu1019Asp 342359263 139267530 ESP2500-chr12-56493741 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56493755C>A;NG_011529.1:g.24864C>A;NM_001982.3:c.3071C>A;NP_001973.2:p.Thr1024Asn 342359264 150001629 ESP2500-chr12-56493755 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56493755C>A;NG_011529.1:g.24864C>A;NM_001982.3:c.3071C>A;NP_001973.2:p.Thr1024Asn 491469470 150001629 nonsyn_185696_chr_12_56493755 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56493771C>T;NG_011529.1:g.24880C>T;NM_001982.3:c.3087C>T;NP_001973.2:p.Ser1029= 342359265 145259354 ESP2500-chr12-56493771 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56493802C>T;NG_011529.1:g.24911C>T;NM_001982.3:c.3118C>T;NP_001973.2:p.Arg1040Trp 488996513 200017094 20110521_exome_173412_chr12_56493802 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56493803G>A;NG_011529.1:g.24912G>A;NM_001982.3:c.3119G>A;NP_001973.2:p.Arg1040Gln 342359266 149181380 ESP2500-chr12-56493803 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 YUSUKE 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 3234836 2292238 IMS-JST044921 3.53e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 16277706 2292238 NT_029419.10_18637128 3.53e-01 2003.11.18 2006.10.26 2001.09.28 2012.11.28 137 CSHL-HAPMAP 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 16562435 2292238 CSHL-HuAA-200402.chr12.NT_029419.10_18637128 3.53e-01 2004.02.17 2004.03.04 2001.09.28 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 23923734 2292238 afd4646960 3.53e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 SI_EXO 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 71647920 2292238 NT_029419.11_18637128 3.53e-01 2007.05.07 2007.05.07 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 75197515 2292238 ILMN_Human_1M_rs2292238 3.53e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 89171148 2292238 JWB-0563544 3.53e-01 2008.02.28 2008.02.28 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 111981355 2292238 CEU.trio.12.15.2008_2741458_chr12_54780089 3.53e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 118828039 2292238 NA18507_000071859_NCBI36.1_chr12_54780089 3.53e-01 2009.01.21 2009.01.21 2001.09.28 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 119428581 2292238 KHS1590828 3.53e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 133183845 2292238 ENSSNP10616204 3.53e-01 2009.05.12 2009.05.14 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 157508019 2292238 GMI_SNP_68758412 3.53e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 168344990 2292238 NA07022_36_chr12_54780089 3.53e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 173261639 2292238 Human1M-Duov3_B_rs2292238-128_B_F_1514173519 3.53e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 198225157 2292238 BUSHMAN-chr12-54780088 3.53e-01 2010.03.06 2010.03.06 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 225768597 2292238 pilot_1_YRI_7578280_chr12_54780089 3.53e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 235946060 2292238 pilot_1_CEU_5550689_chr12_54780089 3.53e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 242503532 2292238 pilot_1_CHB+JPT_4388609_chr12_54780089 3.53e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 281408666 2292238 GMI_AK_SNP_5729055 3.53e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 291256984 2292238 SNP_763342_chr12_54780089 3.53e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 483083237 2292238 HumanOmni2.5-4v1_B_SNP12-54780089-0_B_R_1613100936 3.53e-01 2012.02.02 2012.02.02 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 484147931 2292238 HumanOmni2.5-4v1_D_kgp8758619-0_B_R_1804931431 3.53e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 491044688 2292238 20110521_exome_552486_chr12_56493822 3.53e-01 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56493822A>C;NG_011529.1:g.24931A>C;NM_001982.3:c.3129+9A>C 491667132 2292238 SNV-chr12-54780089 3.53e-01 2012.03.06 2012.03.12 2001.09.28 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56493830delT;NG_011529.1:g.24939delT;NM_001982.3:c.3129+17delT 101089384 67234772 INDEL_GP36_2008a_2627058_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493830delT;NG_011529.1:g.24939delT;NM_001982.3:c.3129+17delT 101089387 67234772 INDEL_GP36_2008a_2627058_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048122 67000723 INDEL_GP36_2008a_2833429_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048124 67000723 INDEL_GP36_2008a_2833429_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048127 67000723 INDEL_GP36_2008a_2833429_2 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048130 67000723 INDEL_GP36_2008a_2833429_3 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048133 67000723 INDEL_GP36_2008a_2833429_4 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048136 67000723 INDEL_GP36_2008a_2833429_5 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048140 67000723 INDEL_GP36_2008a_2833429_6 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048142 67000723 INDEL_GP36_2008a_2833429_7 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048145 67000723 INDEL_GP36_2008a_2833429_8 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048149 67000723 INDEL_GP36_2008a_2833429_9 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048152 67000723 INDEL_GP36_2008a_2833429_10 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048154 67000723 INDEL_GP36_2008a_2833429_11 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048158 67000723 INDEL_GP36_2008a_2833429_12 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048161 67000723 INDEL_GP36_2008a_2833429_13 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048163 67000723 INDEL_GP36_2008a_2833429_14 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048166 67000723 INDEL_GP36_2008a_2833429_15 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048169 67000723 INDEL_GP36_2008a_2833429_16 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048172 67000723 INDEL_GP36_2008a_2833429_17 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048175 67000723 INDEL_GP36_2008a_2833429_18 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048177 67000723 INDEL_GP36_2008a_2833429_19 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048181 67000723 INDEL_GP36_2008a_2833429_20 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048184 67000723 INDEL_GP36_2008a_2833429_21 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048188 67000723 INDEL_GP36_2008a_2833429_22 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048190 67000723 INDEL_GP36_2008a_2833429_23 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048192 67000723 INDEL_GP36_2008a_2833429_24 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048195 67000723 INDEL_GP36_2008a_2833429_25 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048198 67000723 INDEL_GP36_2008a_2833429_26 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048201 67000723 INDEL_GP36_2008a_2833429_27 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048204 67000723 INDEL_GP36_2008a_2833429_28 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048206 67000723 INDEL_GP36_2008a_2833429_29 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048210 67000723 INDEL_GP36_2008a_2833429_30 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048213 67000723 INDEL_GP36_2008a_2833429_31 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048216 67000723 INDEL_GP36_2008a_2833429_32 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56493841delT;NG_011529.1:g.24950delT;NM_001982.3:c.3129+28delT 101048219 67000723 INDEL_GP36_2008a_2833429_33 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 PJP 2065 NC_000012.11:g.56493944delT;NG_011529.1:g.25053delT;NM_001982.3:c.3130-14delT 294753868 149010614 DIP_191572_chr12_54780216 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 YSAMUELS 2065 NC_000012.10:g.54780240A>G NC_000012.11:g.56493973A>G;NG_011529.1:g.25082A>G;NM_001982.3:c.3145A>G;NP_001973.2:p.Ser1049Gly 344940590 151311358 NC_000012.10:g.54780240A>G germline untested 2011.04.05 2011.09.01 2011.05.09 2012.09.29 137 SEQUENOM 2065 NC_000012.11:g.56493993G>T;NG_011529.1:g.25102G>T;NM_001982.3:c.3165G>T;NP_001973.2:p.Met1055Ile 24792246 17118292 sqnm105649 2004.06.18 2004.06.18 2004.09.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56493993G>T;NG_011529.1:g.25102G>T;NM_001982.3:c.3165G>T;NP_001973.2:p.Met1055Ile 75014282 17118292 ILMN_Human_1M_rs17118292 2007.08.29 2007.08.29 2004.09.20 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56493993G>T;NG_011529.1:g.25102G>T;NM_001982.3:c.3165G>T;NP_001973.2:p.Met1055Ile 119876022 17118292 KHS1892661 2009.02.05 2009.02.05 2004.09.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56493993G>T;NG_011529.1:g.25102G>T;NM_001982.3:c.3165G>T;NP_001973.2:p.Met1055Ile 172753501 17118292 Human1M-Duov3_B_rs17118292-123_B_R_1513966005 2009.10.02 2009.10.02 2004.09.20 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56494029G>A;NG_011529.1:g.25138G>A;NM_001982.3:c.3201G>A;NP_001973.2:p.Gln1067= 342359267 142406728 ESP2500-chr12-56494029 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56494029G>A;NG_011529.1:g.25138G>A;NM_001982.3:c.3201G>A;NP_001973.2:p.Gln1067= 491469471 142406728 splice_185697_chr_12_56494029 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56494029G>A;NG_011529.1:g.25138G>A;NM_001982.3:c.3201G>A;NP_001973.2:p.Gln1067= 491667133 142406728 SNV-chr12-54780296 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494287G>A;NG_011529.1:g.25396G>A;NM_001982.3:c.3201+258G>A 337368387 143122001 20100804_snps_9011928_chr12_56494287 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56494341G>C;NG_011529.1:g.25450G>C;NM_001982.3:c.3201+312G>C 462884886 184485935 20101123_snps_9052116_chr12_56494341 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 15194914 11317236 INDEL_GP34_WGS_308926 2003.11.13 2003.11.22 2004.02.28 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 15226839 11317236 INDEL_GP34_WGS_352276 2003.11.13 2003.11.22 2004.02.28 2012.05.11 137 ABI 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 40098320 11317236 hCV32454956 2005.07.16 2005.07.16 2004.02.28 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 99667746 11317236 INDEL_GP36_2007a_534072_0 2008.05.05 2008.05.05 2004.02.28 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 101699415 11317236 INDEL_GP36_2008a_1335752_0 2008.05.18 2008.05.18 2004.02.28 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 101699416 11317236 INDEL_GP36_2008a_1335752_1 2008.05.18 2008.05.18 2004.02.28 2012.05.11 137 DEVINE_LAB 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 101699419 11317236 INDEL_GP36_2008a_1335752_2 2008.05.18 2008.05.18 2004.02.28 2012.05.11 137 PJP 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 294753869 11317236 DIP_191573_chr12_54780695 2011.01.22 2011.01.22 2004.02.28 2012.05.11 137 PJP 2065 NC_000012.11:g.56494428delA;NG_011529.1:g.25537delA;NM_001982.3:c.3201+399delA 294753870 11317236 DIP_191574_chr12_54780710 2011.01.22 2011.01.22 2004.02.28 2012.05.11 137 HGSV 2065 NC_000012.11:g.56494443delA;NC_000012.11:g.56494443delAinsAA;NG_011529.1:g.25552delA;NG_011529.1:g.25552delAinsAA;NM_001982.3:c.3202-402delA;NM_001982.3:c.3202-402delAinsAA 81864120 61553697 Cor18956_DIV_20070510.chr12_54780709-54780711_1 2007.12.01 2007.12.01 2007.12.16 2012.05.16 137 HGSV 2065 NC_000012.11:g.56494443delA;NC_000012.11:g.56494443delAinsAA;NG_011529.1:g.25552delA;NG_011529.1:g.25552delAinsAA;NM_001982.3:c.3202-402delA;NM_001982.3:c.3202-402delAinsAA 82486440 61553697 Cor19240_DIV_20070510.chr12_54780709-54780711_1 2007.12.02 2007.12.02 2007.12.16 2012.05.16 137 BCMHGSC_JDW 2065 NC_000012.11:g.56494443delA;NC_000012.11:g.56494443delAinsAA;NG_011529.1:g.25552delA;NG_011529.1:g.25552delAinsAA;NM_001982.3:c.3202-402delA;NM_001982.3:c.3202-402delAinsAA 103532746 61553697 JWB-4028041 2008.06.06 2009.05.11 2007.12.16 2012.05.16 137 ENSEMBL 2065 NC_000012.11:g.56494443A>G;NG_011529.1:g.25552A>G;NM_001982.3:c.3202-402A>G 133183848 75101116 ENSSNP10616205 2009.05.12 2009.05.14 2009.12.01 2011.07.08 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56494515G>C;NG_011529.1:g.25624G>C;NM_001982.3:c.3202-330G>C 169932225 113467802 NA19240_36_chr12_54780782 1.80e-03 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494515G>C;NG_011529.1:g.25624G>C;NM_001982.3:c.3202-330G>C 462884887 113467802 20101123_snps_9052117_chr12_56494515 1.80e-03 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 WI_SSAHASNP 2065 NC_000012.11:g.56494719A>C;NG_011529.1:g.25828A>C;NM_001982.3:c.3202-126A>C 6564248 4759227 NT_009458.12_3084585 2003.02.13 2003.10.10 2003.02.20 2011.07.08 137 ABI 2065 NC_000012.11:g.56494719A>C;NG_011529.1:g.25828A>C;NM_001982.3:c.3202-126A>C 40210360 4759227 hCV2022136 2005.07.16 2005.07.16 2003.02.20 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56494724delA;NC_000012.11:g.56494724delAinsAA;NG_011529.1:g.25833delA;NG_011529.1:g.25833delAinsAA;NM_001982.3:c.3202-121delA;NM_001982.3:c.3202-121delAinsAA 14952870 10536745 INDEL_GP34_WGS_32129 2003.11.13 2003.11.22 2003.12.05 2012.05.16 137 DEVINE_LAB 2065 NC_000012.11:g.56494724delA;NC_000012.11:g.56494724delAinsAA;NG_011529.1:g.25833delA;NG_011529.1:g.25833delAinsAA;NM_001982.3:c.3202-121delA;NM_001982.3:c.3202-121delAinsAA 50233052 10536745 INDEL_GP35_WGS_475461 2006.01.24 2006.01.24 2003.12.05 2012.05.16 137 DEVINE_LAB 2065 NC_000012.11:g.56494724delA;NC_000012.11:g.56494724delAinsAA;NG_011529.1:g.25833delA;NG_011529.1:g.25833delAinsAA;NM_001982.3:c.3202-121delA;NM_001982.3:c.3202-121delAinsAA 99635144 10536745 INDEL_GP36_2007a_299431_0 2008.05.05 2008.05.05 2003.12.05 2012.05.16 137 DEVINE_LAB 2065 NC_000012.11:g.56494724delA;NC_000012.11:g.56494724delAinsAA;NG_011529.1:g.25833delA;NG_011529.1:g.25833delAinsAA;NM_001982.3:c.3202-121delA;NM_001982.3:c.3202-121delAinsAA 102621957 10536745 INDEL_GP36_2008a_1036751_0 2008.05.18 2008.05.18 2003.12.05 2012.05.16 137 DEVINE_LAB 2065 NC_000012.11:g.56494724delA;NC_000012.11:g.56494724delAinsAA;NG_011529.1:g.25833delA;NG_011529.1:g.25833delAinsAA;NM_001982.3:c.3202-121delA;NM_001982.3:c.3202-121delAinsAA 102621958 10536745 INDEL_GP36_2008a_1036751_1 2008.05.18 2008.05.18 2003.12.05 2012.05.16 137 PJP 2065 NC_000012.11:g.56494724delA;NC_000012.11:g.56494724delAinsAA;NG_011529.1:g.25833delA;NG_011529.1:g.25833delAinsAA;NM_001982.3:c.3202-121delA;NM_001982.3:c.3202-121delAinsAA 294753871 10536745 DIP_191575_chr12_54780991 2011.01.22 2011.01.22 2003.12.05 2012.05.16 137 SSAHASNP 2065 NC_000012.11:g.56494748A>G;NG_011529.1:g.25857A>G;NM_001982.3:c.3202-97A>G 20929445 11324906 WGSA-200403-chr12.chr12.NT_029419.10_18638054 2004.03.19 2004.03.19 2004.02.28 2012.12.05 137 SSAHASNP 2065 NC_000012.11:g.56494748A>G;NG_011529.1:g.25857A>G;NM_001982.3:c.3202-97A>G 35520030 11324906 TA-079.chr12_54781015 2005.03.11 2004.02.28 2012.12.05 137 WTCCC 2065 NC_000012.11:g.56494803G>A;NG_011529.1:g.25912G>A;NM_001982.3:c.3202-42G>A 120256311 76678968 NT_029419.11_18638109 2.30e-03 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494803G>A;NG_011529.1:g.25912G>A;NM_001982.3:c.3202-42G>A 337368388 76678968 20100804_snps_9011929_chr12_56494803 2.30e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494803G>A;NG_011529.1:g.25912G>A;NM_001982.3:c.3202-42G>A 491044689 76678968 20110521_exome_552487_chr12_56494803 2.30e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56494855_56494856insT;NG_011529.1:g.25964_25965insT;NM_001982.3:c.3212_3213insT;NP_001973.2:p.Val1071delinsValPhefs 101175073 68009282 INDEL_GP36_2008a_2630469_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56494855_56494856insT;NG_011529.1:g.25964_25965insT;NM_001982.3:c.3212_3213insT;NP_001973.2:p.Val1071delinsValPhefs 101175076 68009282 INDEL_GP36_2008a_2630469_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56494872C>T;NG_011529.1:g.25981C>T;NM_001982.3:c.3229C>T;NP_001973.2:p.Arg1077Trp 175137407 112651994 NA20431_36_chr12_54781139 5.00e-04 2009.10.05 2009.10.05 2010.07.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56494872C>T;NG_011529.1:g.25981C>T;NM_001982.3:c.3229C>T;NP_001973.2:p.Arg1077Trp 342359268 112651994 ESP2500-chr12-56494872 5.00e-04 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494872C>T;NG_011529.1:g.25981C>T;NM_001982.3:c.3229C>T;NP_001973.2:p.Arg1077Trp 488996515 112651994 20110521_exome_173413_chr12_56494872 5.00e-04 2012.02.13 2012.02.13 2010.07.04 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56494872C>T;NG_011529.1:g.25981C>T;NM_001982.3:c.3229C>T;NP_001973.2:p.Arg1077Trp 491469472 112651994 nonsyn_185698_chr_12_56494872 5.00e-04 2012.03.05 2012.03.05 2010.07.04 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56494872C>T;NG_011529.1:g.25981C>T;NM_001982.3:c.3229C>T;NP_001973.2:p.Arg1077Trp 491667134 112651994 SNV-chr12-54781139 5.00e-04 2012.03.06 2012.03.12 2010.07.04 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56494932T>C;NG_011529.1:g.26041T>C;NM_001982.3:c.3289T>C;NP_001973.2:p.Ser1097Pro 120258170 77822103 NT_029419.11_18638238 9.00e-04 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56494932T>C;NG_011529.1:g.26041T>C;NM_001982.3:c.3289T>C;NP_001973.2:p.Ser1097Pro 342359269 77822103 ESP2500-chr12-56494932 9.00e-04 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494932T>C;NG_011529.1:g.26041T>C;NM_001982.3:c.3289T>C;NP_001973.2:p.Ser1097Pro 488996517 77822103 20110521_exome_173414_chr12_56494932 9.00e-04 2012.02.13 2012.02.13 2009.12.01 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56494932T>C;NG_011529.1:g.26041T>C;NM_001982.3:c.3289T>C;NP_001973.2:p.Ser1097Pro 491469473 77822103 nonsyn_185699_chr_12_56494932 9.00e-04 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56494937_56494938insG;NG_011529.1:g.26046_26047insG;NM_001982.3:c.3294_3295insG;NP_001973.2:p.Glu1098_Gly1099delinsGluGlyAlafs 101179268 67044459 INDEL_GP36_2008a_2629759_0 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56494937_56494938insG;NG_011529.1:g.26046_26047insG;NM_001982.3:c.3294_3295insG;NP_001973.2:p.Glu1098_Gly1099delinsGluGlyAlafs 101179270 67044459 INDEL_GP36_2008a_2629759_1 2008.05.17 2008.05.17 2009.02.05 2011.07.08 137 YUSUKE 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 3205903 2271189 IMS-JST065987 3.17e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 16233229 2271189 NT_029419.10_18638297 3.17e-01 2003.11.18 2006.10.26 2001.09.28 2012.11.28 137 CGAP-GAI 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 16245137 2271189 1488075 3.17e-01 2003.11.18 2003.11.22 2001.09.28 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 23923739 2271189 afd4631158 3.17e-01 2004.08.21 2004.09.13 2001.09.28 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 69109880 2271189 PGP04631158 3.17e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 SI_EXO 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 71642132 2271189 NT_029419.11_18638297 3.17e-01 2007.05.07 2008.03.31 2001.09.28 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 74801457 2271189 2824 3.17e-01 2007.07.20 2007.07.20 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 75115528 2271189 ILMN_Human_1M_rs2271189 3.17e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 HGSV 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 81814418 2271189 Cor18555_SNV_20070510.chr12_54781258 3.17e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 CORNELL 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 86239618 2271189 hCV15959678 3.17e-01 2008.01.21 2010.09.29 2001.09.28 2012.11.28 137 BCMHGSC_JDW 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 89171152 2271189 JWB-0563545 3.17e-01 2008.02.28 2008.02.28 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 111981358 2271189 CEU.trio.12.15.2008_2741459_chr12_54781258 3.17e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 118828044 2271189 NA18507_000071860_NCBI36.1_chr12_54781258 3.17e-01 2009.01.21 2009.01.21 2001.09.28 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 119425448 2271189 KHS1587695 3.17e-01 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 133183851 2271189 ENSSNP6847685 3.17e-01 2009.05.12 2009.05.14 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 157508030 2271189 GMI_SNP_168940508 3.17e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 SEATTLESEQ 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 159726618 2271189 ERBB3-54781258 3.17e-01 2009.07.10 2009.07.10 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 160524918 2271189 HumanOmni1-Quad_v1-0_B_rs2271189-128_T_R_1514078864 3.17e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 168344999 2271189 NA07022_36_chr12_54781258 3.17e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 173231011 2271189 Human1M-Duov3_B_rs2271189-128_T_R_1514078864 3.17e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 225768598 2271189 pilot_1_YRI_7578281_chr12_54781258 3.17e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 235946062 2271189 pilot_1_CEU_5550691_chr12_54781258 3.17e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 242503533 2271189 pilot_1_CHB+JPT_4388610_chr12_54781258 3.17e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 244288908 2271189 CVDSNP55v1_A_rs2271189 3.17e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 GMI 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 281408667 2271189 GMI_AK_SNP_5729056 3.17e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 291256985 2271189 SNP_763343_chr12_54781258 3.17e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 342359270 2271189 ESP2500-chr12-56494991 3.17e-01 2011.03.26 2011.03.26 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 480495422 2271189 HumanOmni2.5-4v1_B_rs2271189-128_T_R_1690725788 3.17e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 480509781 2271189 HumanOmniExpress-12v1_C_rs2271189-131_T_R_1857178900 3.17e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 481313939 2271189 HumanOmni1-Quad_v1-0_C_rs2271189-131_T_R_1857178900 3.17e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 485045219 2271189 HumanOmni2.5-4v1_D_rs2271189-131_T_R_1857178900 3.17e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 491044690 2271189 20110521_exome_552488_chr12_56494991 3.17e-01 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56494991G>A;NG_011529.1:g.26100G>A;NM_001982.3:c.3348G>A;NP_001973.2:p.Arg1116= 491667135 2271189 SNV-chr12-54781258 3.17e-01 2012.03.06 2012.03.12 2001.09.28 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56494995C>T;NG_011529.1:g.26104C>T;NM_001982.3:c.3352C>T;NP_001973.2:p.Arg1118Trp 342359271 138517750 ESP2500-chr12-56494995 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494995C>T;NG_011529.1:g.26104C>T;NM_001982.3:c.3352C>T;NP_001973.2:p.Arg1118Trp 488996519 138517750 20110521_exome_173415_chr12_56494995 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494996G>A;NG_011529.1:g.26105G>A;NM_001982.3:c.3353G>A;NP_001973.2:p.Arg1118Gln 488996521 201958747 20110521_exome_173416_chr12_56494996 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 KWOK 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 888176 773123 OVLP-000804-88987 6.23e-02 2000.09.01 2003.10.10 2000.10.05 2012.11.28 137 KWOK 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 1984870 773123 OVLP-000925-53966 6.23e-02 2000.10.06 2004.05.16 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 2536722 773123 AC034102.9_30048 6.23e-02 2000.11.03 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 3754313 773123 AC034102.20_152822 6.23e-02 2001.09.25 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 4137029 773123 AC025162.31_40897 6.23e-02 2001.10.15 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 11016224 773123 chr12.NT_029419.10_18638304 6.23e-02 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 20932327 773123 WGSA-200403-chr12.chr12.NT_029419.10_18638304 6.23e-02 2004.03.19 2004.03.19 2000.10.05 2012.11.28 137 ABI 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 40255187 773123 hCV8340077 6.23e-02 2005.07.16 2006.11.02 2000.10.05 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 48533443 773123 NC_000012.9_54781265 6.23e-02 2005.10.20 2005.11.29 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 65729550 773123 Human1-rs773123 6.23e-02 2006.10.10 2006.10.10 2000.10.05 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 69109881 773123 PGP04133343 6.23e-02 2007.01.30 2007.08.14 2000.10.05 2012.11.28 137 SI_EXO 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 71648539 773123 NT_029419.11_18638304 6.23e-02 2007.05.07 2008.03.31 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 74896605 773123 ILMN_Human_1M_rs773123 6.23e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 83529933 773123 Cor19240_SNV_20070510.chr12_54781265 6.23e-02 2007.12.05 2007.12.05 2000.10.05 2012.11.28 137 CORNELL 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 86271975 773123 hCV8340077 6.23e-02 2008.01.21 2010.09.29 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 113586062 773123 NA19240_2008_12_16_2464848_chr12_54781265 6.23e-02 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 139820417 773123 ENSSNP3633288 6.23e-02 2009.05.19 2009.10.16 2000.10.05 2012.11.28 137 SEATTLESEQ 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 159726619 773123 ERBB3-54781265 6.23e-02 2009.07.10 2009.07.10 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 160908433 773123 HumanOmni1-Quad_v1-0_B_rs773123-128_B_R_1513947619 6.23e-02 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 169932255 773123 NA19240_36_chr12_54781265 6.23e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 174519272 773123 Human1M-Duov3_B_rs773123-128_B_R_1513947619 6.23e-02 2009.10.04 2009.10.04 2000.10.05 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 198225163 773123 BUSHMAN-chr12-54781264 6.23e-02 2010.03.06 2010.03.06 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 225768599 773123 pilot_1_YRI_7578282_chr12_54781265 6.23e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 235946063 773123 pilot_1_CEU_5550692_chr12_54781265 6.23e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 244310685 773123 CVDSNP55v1_A_rs773123 6.23e-02 2010.06.10 2010.06.10 2000.10.05 2012.11.28 137 PJP 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 291256986 773123 SNP_763344_chr12_54781265 6.23e-02 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 342359272 773123 ESP2500-chr12-56494998 6.23e-02 2011.03.26 2011.03.26 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 482654196 773123 HumanOmni1-Quad_v1-0_C_rs773123-131_B_R_1863242752 6.23e-02 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 491044691 773123 20110521_exome_552489_chr12_56494998 6.23e-02 2012.02.22 2012.02.22 2000.10.05 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 491469474 773123 nonsyn_185700_chr_12_56494998 6.23e-02 2012.03.05 2012.03.05 2000.10.05 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56494998A>T;NG_011529.1:g.26107A>T;NM_001982.3:c.3355A>T;NP_001973.2:p.Ser1119Cys 491667136 773123 SNV-chr12-54781265 6.23e-02 2012.03.06 2012.03.12 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495020C>T;NG_011529.1:g.26129C>T;NM_001982.3:c.3377C>T;NP_001973.2:p.Pro1126Leu 488996523 201486425 20110521_exome_173417_chr12_56495020 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 YUSUKE 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 3205902 2271188 IMS-JST065986 6.90e-03 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 23923748 2271188 afd4366095 6.90e-03 2004.08.21 2004.10.21 2001.09.28 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 48533444 2271188 NC_000012.9_54781290 6.90e-03 2005.10.20 2006.11.03 2001.09.28 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 69109882 2271188 PGP04366095 6.90e-03 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 AFFY 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 74814216 2271188 SNP_M-305268 6.90e-03 2007.08.09 2007.08.09 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 74909391 2271188 ILMN_Human_1M_rs2271188 6.90e-03 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 SEATTLESEQ 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 159726620 2271188 ERBB3-54781290 6.90e-03 2009.07.10 2009.07.10 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 160524917 2271188 HumanOmni1-Quad_v1-0_B_rs2271188-128_B_F_1513932649 6.90e-03 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 173231006 2271188 Human1M-Duov3_B_rs2271188-128_B_F_1513932649 6.90e-03 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 242503534 2271188 pilot_1_CHB+JPT_4388611_chr12_54781290 6.90e-03 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 244288907 2271188 CVDSNP55v1_A_rs2271188 6.90e-03 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 480495419 2271188 HumanOmni2.5-4v1_B_rs2271188-128_B_F_1690725787 6.90e-03 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 480509777 2271188 HumanOmniExpress-12v1_C_rs2271188-131_B_F_1857178897 6.90e-03 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 481313935 2271188 HumanOmni1-Quad_v1-0_C_rs2271188-131_B_F_1865710857 6.90e-03 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 481743628 2271188 HumanOmni2.5-4v1_D_kgp18843435-0_B_R_1829330783 6.90e-03 2012.02.01 2012.02.01 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 483083239 2271188 HumanOmni2.5-4v1_B_SNP12-54781290-0_B_R_1629837637 6.90e-03 2012.02.02 2012.02.02 2001.09.28 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 485045217 2271188 HumanOmni2.5-4v1_D_rs2271188-131_B_F_1857178897 6.90e-03 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 491044692 2271188 20110521_exome_552490_chr12_56495023 6.90e-03 2012.02.22 2012.02.22 2001.09.28 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56495023G>A;NG_011529.1:g.26132G>A;NM_001982.3:c.3380G>A;NP_001973.2:p.Arg1127His 491469475 2271188 nonsyn_185701_chr_12_56495023 6.90e-03 2012.03.05 2012.03.05 2001.09.28 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56495034G>A;NG_011529.1:g.26143G>A;NM_001982.3:c.3391G>A;NP_001973.2:p.Ala1131Thr 342359273 150312718 ESP2500-chr12-56495034 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495034G>A;NG_011529.1:g.26143G>A;NM_001982.3:c.3391G>A;NP_001973.2:p.Ala1131Thr 462884888 150312718 20101123_snps_9052118_chr12_56495034 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495034G>A;NG_011529.1:g.26143G>A;NM_001982.3:c.3391G>A;NP_001973.2:p.Ala1131Thr 491044693 150312718 20110521_exome_552491_chr12_56495034 1.40e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56495034G>A;NG_011529.1:g.26143G>A;NM_001982.3:c.3391G>A;NP_001973.2:p.Ala1131Thr 491469476 150312718 nonsyn_185702_chr_12_56495034 1.40e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56495049C>A;NC_000012.11:g.56495049C>T;NG_011529.1:g.26158C>A;NG_011529.1:g.26158C>T;NM_001982.3:c.3406C>A;NM_001982.3:c.3406C>T;NP_001973.2:p.Arg1136Cys;NP_001973.2:p.Arg1136Ser 120254590 79759315 NT_029419.11_18638355 5.00e-04 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495049C>A;NC_000012.11:g.56495049C>T;NG_011529.1:g.26158C>A;NG_011529.1:g.26158C>T;NM_001982.3:c.3406C>A;NM_001982.3:c.3406C>T;NP_001973.2:p.Arg1136Cys;NP_001973.2:p.Arg1136Ser 488996525 79759315 20110521_exome_173418_chr12_56495049 5.00e-04 2012.02.13 2012.02.13 2009.12.01 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56495063G>T;NG_011529.1:g.26172G>T;NM_001982.3:c.3420G>T;NP_001973.2:p.Leu1140= 342359274 137983681 ESP2500-chr12-56495063 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56495063G>T;NG_011529.1:g.26172G>T;NM_001982.3:c.3420G>T;NP_001973.2:p.Leu1140= 491667137 137983681 SNV-chr12-54781330 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56495092G>C;NG_011529.1:g.26201G>C;NM_001982.3:c.3449G>C;NP_001973.2:p.Gly1150Ala 342359275 149495975 ESP2500-chr12-56495092 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56495114C>T;NG_011529.1:g.26223C>T;NM_001982.3:c.3471C>T;NP_001973.2:p.Asn1157= 342359276 147189912 ESP2500-chr12-56495114 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56495154C>T;NG_011529.1:g.26263C>T;NM_001982.3:c.3502+9C>T 462884889 186645808 20101123_snps_9052119_chr12_56495154 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495154C>T;NG_011529.1:g.26263C>T;NM_001982.3:c.3502+9C>T 491044694 186645808 20110521_exome_552492_chr12_56495154 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495156C>T;NG_011529.1:g.26265C>T;NM_001982.3:c.3502+11C>T 488996527 199590684 20110521_exome_173419_chr12_56495156 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495162A>C;NG_011529.1:g.26271A>C;NM_001982.3:c.3502+17A>C 161047248 75064496 HumanOmni1-Quad_v1-0_B_SNP12-54781429-0_B_R_1588304995 6.91e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495162A>C;NG_011529.1:g.26271A>C;NM_001982.3:c.3502+17A>C 211287925 75064496 YRI.trio.3.2010_1104215_chr12_54781429 6.91e-02 2010.03.30 2010.03.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495162A>C;NG_011529.1:g.26271A>C;NM_001982.3:c.3502+17A>C 225768600 75064496 pilot_1_YRI_7578283_chr12_54781429 6.91e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 PJP 2065 NC_000012.11:g.56495162A>C;NG_011529.1:g.26271A>C;NM_001982.3:c.3502+17A>C 291256987 75064496 SNP_763345_chr12_54781429 6.91e-02 2011.01.21 2011.01.21 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495162A>C;NG_011529.1:g.26271A>C;NM_001982.3:c.3502+17A>C 479253242 75064496 HumanOmni1-Quad_v1-0_C_kgp18934288-0_B_R_1829512486 6.91e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495162A>C;NG_011529.1:g.26271A>C;NM_001982.3:c.3502+17A>C 491044695 75064496 20110521_exome_552493_chr12_56495162 6.91e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56495162A>C;NG_011529.1:g.26271A>C;NM_001982.3:c.3502+17A>C 491667138 75064496 SNV-chr12-54781429 6.91e-02 2012.03.06 2012.03.12 2009.12.01 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56495170C>A;NG_011529.1:g.26279C>A;NM_001982.3:c.3502+25C>A 491667139 201244150 SNV-chr12-54781437 2012.03.06 2012.03.12 2012.05.04 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495186A>G;NG_011529.1:g.26295A>G;NM_001982.3:c.3502+41A>G 462884890 189424197 20101123_snps_9052120_chr12_56495186 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495186A>G;NG_011529.1:g.26295A>G;NM_001982.3:c.3502+41A>G 491044696 189424197 20110521_exome_552494_chr12_56495186 1.40e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495194_56495195insC;NG_011529.1:g.26303_26304insC;NM_001982.3:c.3502+49_3502+50insC 100570189 67499322 INDEL_GP36_2008a_2739136_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495194_56495195insC;NG_011529.1:g.26303_26304insC;NM_001982.3:c.3502+49_3502+50insC 100570190 67499322 INDEL_GP36_2008a_2739136_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495194_56495195insC;NG_011529.1:g.26303_26304insC;NM_001982.3:c.3502+49_3502+50insC 100570193 67499322 INDEL_GP36_2008a_2739136_2 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495194_56495195insC;NG_011529.1:g.26303_26304insC;NM_001982.3:c.3502+49_3502+50insC 100570196 67499322 INDEL_GP36_2008a_2739136_3 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495194_56495195insC;NG_011529.1:g.26303_26304insC;NM_001982.3:c.3502+49_3502+50insC 100570199 67499322 INDEL_GP36_2008a_2739136_4 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495194_56495195insC;NG_011529.1:g.26303_26304insC;NM_001982.3:c.3502+49_3502+50insC 100570202 67499322 INDEL_GP36_2008a_2739136_5 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190866 67592614 INDEL_GP36_2008a_2627077_0 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190870 67592614 INDEL_GP36_2008a_2627077_1 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190873 67592614 INDEL_GP36_2008a_2627077_2 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190876 67592614 INDEL_GP36_2008a_2627077_3 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190878 67592614 INDEL_GP36_2008a_2627077_4 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190882 67592614 INDEL_GP36_2008a_2627077_5 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190884 67592614 INDEL_GP36_2008a_2627077_6 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190887 67592614 INDEL_GP36_2008a_2627077_7 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190889 67592614 INDEL_GP36_2008a_2627077_8 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190892 67592614 INDEL_GP36_2008a_2627077_9 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 100190897 67592614 INDEL_GP36_2008a_2627077_10 2008.05.16 2008.05.16 2009.02.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495201delC;NC_000012.11:g.56495201delCinsCTC;NG_011529.1:g.26310delC;NG_011529.1:g.26310delCinsCTC;NM_001982.3:c.3502+56delC;NM_001982.3:c.3502+56delCinsCTC 100716120 67912041 INDEL_GP36_2008a_2663268_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495201delC;NC_000012.11:g.56495201delCinsCTC;NG_011529.1:g.26310delC;NG_011529.1:g.26310delCinsCTC;NM_001982.3:c.3502+56delC;NM_001982.3:c.3502+56delCinsCTC 100716121 67912041 INDEL_GP36_2008a_2663268_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495201delC;NC_000012.11:g.56495201delCinsCTC;NG_011529.1:g.26310delC;NG_011529.1:g.26310delCinsCTC;NM_001982.3:c.3502+56delC;NM_001982.3:c.3502+56delCinsCTC 100716126 67912041 INDEL_GP36_2008a_2663268_2 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495201delC;NC_000012.11:g.56495201delCinsCTC;NG_011529.1:g.26310delC;NG_011529.1:g.26310delCinsCTC;NM_001982.3:c.3502+56delC;NM_001982.3:c.3502+56delCinsCTC 100716128 67912041 INDEL_GP36_2008a_2663268_3 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 327441886 67592614 JPTCHB_chr12_54781467_indel 2011.03.12 2011.04.03 2009.02.06 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495201_56495203delCTC;NG_011529.1:g.26310_26312delCTC;NM_001982.3:c.3502+56_3502+58delCTC 499756329 67592614 20110316_indels_chr12_56495200_56495202 2012.03.20 2012.03.20 2009.02.06 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495218C>T;NG_011529.1:g.26327C>T;NM_001982.3:c.3502+73C>T 337368390 145359354 20100804_snps_9011931_chr12_56495218 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549674 67143824 INDEL_GP36_2008a_2626634_0 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549676 67143824 INDEL_GP36_2008a_2626634_1 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549677 67143824 INDEL_GP36_2008a_2626634_2 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549680 67143824 INDEL_GP36_2008a_2626634_3 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549681 67143824 INDEL_GP36_2008a_2626634_4 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549684 67143824 INDEL_GP36_2008a_2626634_5 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549685 67143824 INDEL_GP36_2008a_2626634_6 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549687 67143824 INDEL_GP36_2008a_2626634_7 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549690 67143824 INDEL_GP36_2008a_2626634_8 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549691 67143824 INDEL_GP36_2008a_2626634_9 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549694 67143824 INDEL_GP36_2008a_2626634_10 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549695 67143824 INDEL_GP36_2008a_2626634_11 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549698 67143824 INDEL_GP36_2008a_2626634_12 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495253delA;NG_011529.1:g.26362delA;NM_001982.3:c.3503-60delA 102549699 67143824 INDEL_GP36_2008a_2626634_13 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56495284C>A;NG_011529.1:g.26393C>A;NM_001982.3:c.3503-29C>A 337368391 137866164 20100804_snps_9011932_chr12_56495284 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495284C>A;NG_011529.1:g.26393C>A;NM_001982.3:c.3503-29C>A 491044697 137866164 20110521_exome_552495_chr12_56495284 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56495284C>A;NG_011529.1:g.26393C>A;NM_001982.3:c.3503-29C>A 491667140 137866164 SNV-chr12-54781551 9.00e-04 2012.03.06 2012.03.12 2011.05.09 2012.11.28 137 KWOK 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 1064092 812826 OVLP-000804-88986 8.38e-02 2000.09.02 2003.10.10 2000.10.05 2012.11.28 137 KWOK 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 2072536 812826 OVLP-000925-53965 8.38e-02 2000.10.07 2006.10.25 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 2520198 812826 AC025162.13_55993 8.38e-02 2000.11.03 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 3720289 812826 AC025162.30_41205 8.38e-02 2001.09.25 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 4137030 812826 AC025162.31_41205 8.38e-02 2001.10.15 2003.10.10 2000.10.05 2012.11.28 137 BCM_SSAHASNP 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 11017185 812826 chr12.NT_029419.10_18638612 8.38e-02 2003.07.01 2003.10.10 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 68017939 812826 HumanHap650Yv1.0_rs812826 8.38e-02 2006.11.15 2006.11.15 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 71582568 812826 HumanHap650Yv3.0_rs812826 8.38e-02 2007.04.23 2007.04.23 2000.10.05 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 74801458 812826 3392 8.38e-02 2007.07.20 2007.07.20 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 75401515 812826 ILMN_Human_1M_rs812826 8.38e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 82737312 812826 Cor19240_SNV_20070510.chr12_54781573 8.38e-02 2007.12.03 2007.12.03 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 97311603 812826 1103649448850 8.38e-02 2008.03.28 2010.03.07 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 113586066 812826 NA19240_2008_12_16_2464849_chr12_54781573 8.38e-02 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 118828048 812826 NA18507_000071861_NCBI36.1_chr12_54781573 8.38e-02 2009.01.21 2009.01.21 2000.10.05 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 119368960 812826 KHS1531207 8.38e-02 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 120252135 812826 NT_029419.11_18638612 8.38e-02 2009.04.10 2009.04.24 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 160952122 812826 HumanOmni1-Quad_v1-0_B_rs812826-128_B_R_1502391168 8.38e-02 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 169932267 812826 NA19240_36_chr12_54781573 8.38e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 174726860 812826 Human1M-Duov3_B_rs812826-128_B_R_1502391168 8.38e-02 2009.10.05 2009.10.05 2000.10.05 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 198225167 812826 BUSHMAN-chr12-54781572 8.38e-02 2010.03.06 2010.03.06 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 225768601 812826 pilot_1_YRI_7578284_chr12_54781573 8.38e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 235946064 812826 pilot_1_CEU_5550693_chr12_54781573 8.38e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 244312645 812826 CVDSNP55v1_A_rs812826 8.38e-02 2010.06.10 2010.06.10 2000.10.05 2012.11.28 137 PJP 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 291256988 812826 SNP_763346_chr12_54781573 8.38e-02 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 481791359 812826 HumanOmni2.5-4v1_B_rs812826-128_B_R_1690750983 8.38e-02 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 481823597 812826 HumanOmniExpress-12v1_C_rs812826-131_B_R_1857507424 8.38e-02 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 482785011 812826 HumanOmni1-Quad_v1-0_C_rs812826-131_B_R_1865220440 8.38e-02 2012.02.01 2012.02.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 485690290 812826 HumanOmni2.5-4v1_D_rs812826-131_B_R_1857507424 8.38e-02 2012.02.05 2012.02.05 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 491044698 812826 20110521_exome_552496_chr12_56495306 8.38e-02 2012.02.22 2012.02.22 2000.10.05 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56495306C>T;NG_011529.1:g.26415C>T;NM_001982.3:c.3503-7C>T 491667141 812826 SNV-chr12-54781573 8.38e-02 2012.03.06 2012.03.12 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495327C>T;NG_011529.1:g.26436C>T;NM_001982.3:c.3517C>T;NP_001973.2:p.Arg1173Trp 462884891 180986542 20101123_snps_9052121_chr12_56495327 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495327C>T;NG_011529.1:g.26436C>T;NM_001982.3:c.3517C>T;NP_001973.2:p.Arg1173Trp 491044699 180986542 20110521_exome_552497_chr12_56495327 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56495328G>A;NG_011529.1:g.26437G>A;NM_001982.3:c.3518G>A;NP_001973.2:p.Arg1173Gln 342359277 138861245 ESP2500-chr12-56495328 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495328G>A;NG_011529.1:g.26437G>A;NM_001982.3:c.3518G>A;NP_001973.2:p.Arg1173Gln 462884892 138861245 20101123_snps_9052122_chr12_56495328 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495328G>A;NG_011529.1:g.26437G>A;NM_001982.3:c.3518G>A;NP_001973.2:p.Arg1173Gln 491044700 138861245 20110521_exome_552498_chr12_56495328 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56495328G>A;NG_011529.1:g.26437G>A;NM_001982.3:c.3518G>A;NP_001973.2:p.Arg1173Gln 491469477 138861245 nonsyn_185703_chr_12_56495328 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495333delG;NG_011529.1:g.26442delG;NM_001982.3:c.3523delG;NP_001973.2:p.Gly1175Alafs 100895955 67808073 INDEL_GP36_2008a_2663304_0 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495333delG;NG_011529.1:g.26442delG;NM_001982.3:c.3523delG;NP_001973.2:p.Gly1175Alafs 100895957 67808073 INDEL_GP36_2008a_2663304_1 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495333delG;NG_011529.1:g.26442delG;NM_001982.3:c.3523delG;NP_001973.2:p.Gly1175Alafs 100895962 67808073 INDEL_GP36_2008a_2663304_2 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495333delG;NG_011529.1:g.26442delG;NM_001982.3:c.3523delG;NP_001973.2:p.Gly1175Alafs 100895965 67808073 INDEL_GP36_2008a_2663304_3 2008.05.17 2008.05.17 2009.02.06 2011.07.08 137 CANCER-GENOME 2065 NC_000012.11:g.56495339C>A;NG_011529.1:g.26448C>A;NM_001982.3:c.3529C>A;NP_001973.2:p.Leu1177Ile 74801459 55699040 10083 1.40e-03 2007.07.20 2007.07.20 2007.12.06 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56495339C>A;NG_011529.1:g.26448C>A;NM_001982.3:c.3529C>A;NP_001973.2:p.Leu1177Ile 120251627 55699040 NT_029419.11_18638645 1.40e-03 2009.04.10 2009.04.24 2007.12.06 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56495339C>A;NG_011529.1:g.26448C>A;NM_001982.3:c.3529C>A;NP_001973.2:p.Leu1177Ile 342359278 55699040 ESP2500-chr12-56495339 1.40e-03 2011.03.26 2011.03.26 2007.12.06 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56495339C>A;NG_011529.1:g.26448C>A;NM_001982.3:c.3529C>A;NP_001973.2:p.Leu1177Ile 488996529 55699040 20110521_exome_173420_chr12_56495339 1.40e-03 2012.02.13 2012.02.13 2007.12.06 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56495339C>A;NG_011529.1:g.26448C>A;NM_001982.3:c.3529C>A;NP_001973.2:p.Leu1177Ile 491469478 55699040 nonsyn_185704_chr_12_56495339 1.40e-03 2012.03.05 2012.03.05 2007.12.06 2012.11.28 137 CLINSEQ_SNP 2065 NC_000012.11:g.56495339C>A;NG_011529.1:g.26448C>A;NM_001982.3:c.3529C>A;NP_001973.2:p.Leu1177Ile 491667142 55699040 SNV-chr12-54781606 1.40e-03 2012.03.06 2012.03.12 2007.12.06 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495340_56495341insT;NG_011529.1:g.26449_26450insT;NM_001982.3:c.3530_3531insT;NP_001973.2:p.Leu1177delinsLeuPhefs 100453871 67708249 INDEL_GP36_2008a_2626967_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495340_56495341insT;NG_011529.1:g.26449_26450insT;NM_001982.3:c.3530_3531insT;NP_001973.2:p.Leu1177delinsLeuPhefs 100453874 67708249 INDEL_GP36_2008a_2626967_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495340_56495341insT;NG_011529.1:g.26449_26450insT;NM_001982.3:c.3530_3531insT;NP_001973.2:p.Leu1177delinsLeuPhefs 100453876 67708249 INDEL_GP36_2008a_2626967_2 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495340_56495341insT;NG_011529.1:g.26449_26450insT;NM_001982.3:c.3530_3531insT;NP_001973.2:p.Leu1177delinsLeuPhefs 100453880 67708249 INDEL_GP36_2008a_2626967_3 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495340_56495341insT;NG_011529.1:g.26449_26450insT;NM_001982.3:c.3530_3531insT;NP_001973.2:p.Leu1177delinsLeuPhefs 100453883 67708249 INDEL_GP36_2008a_2626967_4 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495340_56495341insT;NG_011529.1:g.26449_26450insT;NM_001982.3:c.3530_3531insT;NP_001973.2:p.Leu1177delinsLeuPhefs 100453886 67708249 INDEL_GP36_2008a_2626967_5 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56495386T>C;NG_011529.1:g.26495T>C;NM_001982.3:c.3576T>C;NP_001973.2:p.Asp1192= 488996531 200811061 20110521_exome_173421_chr12_56495386 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56495397A>G;NG_011529.1:g.26506A>G;NM_001982.3:c.3587A>G;NP_001973.2:p.Glu1196Gly 342359279 147436223 ESP2500-chr12-56495397 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56495398G>A;NG_011529.1:g.26507G>A;NM_001982.3:c.3588G>A;NP_001973.2:p.Glu1196= 342359280 148498435 ESP2500-chr12-56495398 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56495398G>A;NG_011529.1:g.26507G>A;NM_001982.3:c.3588G>A;NP_001973.2:p.Glu1196= 491469479 148498435 synctl_185705_chr_12_56495398 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 CANCER-GENOME 2065 NC_000012.11:g.56495571C>A;NG_011529.1:g.26680C>A;NM_001982.3:c.3761C>A;NP_001973.2:p.Thr1254Lys 74803405 55709407 10085 2007.07.20 2007.07.20 2007.12.06 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56495604G>C;NG_011529.1:g.26713G>C;NM_001982.3:c.3794G>C;NP_001973.2:p.Arg1265Pro 342359281 142809206 ESP2500-chr12-56495604 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56495604G>C;NG_011529.1:g.26713G>C;NM_001982.3:c.3794G>C;NP_001973.2:p.Arg1265Pro 462884893 142809206 20101123_snps_9052123_chr12_56495604 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 SC_SNP 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 15671043 11171743 NT_029419.10_18638927 2003.11.17 2003.11.22 2004.02.27 2012.11.28 137 SC_SNP 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 18775494 11171743 SC-CHR9-12_NA17119-200402.chr12.NT_029419.10_18638927 2004.02.20 2004.03.04 2004.02.27 2012.11.28 137 AFFY 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 74807377 11171743 SNP_M-178355 2007.08.09 2007.08.09 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 74889856 11171743 ILMN_Human_1M_rs11171743 2007.08.29 2007.08.29 2004.02.27 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 119674604 11171743 KHS1803771 2009.02.05 2009.02.05 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 171123116 11171743 Human1M-Duov3_B_rs11171743-128_T_F_1513885091 2009.10.01 2009.10.01 2004.02.27 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 244271815 11171743 CVDSNP55v1_A_rs11171743 2010.06.10 2010.06.10 2004.02.27 2012.11.28 137 NHLBI-ESP 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 342359282 11171743 ESP2500-chr12-56495621 2011.03.26 2011.03.26 2004.02.27 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56495621G>A;NG_011529.1:g.26730G>A;NM_001982.3:c.3811G>A;NP_001973.2:p.Gly1271Ser 491469480 11171743 nonsyn_185706_chr_12_56495621 2012.03.05 2012.03.05 2004.02.27 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495656delC;NG_011529.1:g.26765delC;NM_001982.3:c.3846delC;NP_001973.2:p.Cys1282=fs 102342562 68165804 INDEL_GP36_2008a_2777565_0 2008.05.18 2008.05.18 2009.02.07 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495656delC;NG_011529.1:g.26765delC;NM_001982.3:c.3846delC;NP_001973.2:p.Cys1282=fs 102342564 68165804 INDEL_GP36_2008a_2777565_1 2008.05.18 2008.05.18 2009.02.07 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56495659A>T;NG_011529.1:g.26768A>T;NM_001982.3:c.3849A>T;NP_001973.2:p.Pro1283= 342359283 139774513 ESP2500-chr12-56495659 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56495678G>T;NG_011529.1:g.26787G>T;NM_001982.3:c.3868G>T;NP_001973.2:p.Glu1290Ter 342359284 143742672 ESP2500-chr12-56495678 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495685_56495686insT;NG_011529.1:g.26794_26795insT;NM_001982.3:c.3875_3876insT;NP_001973.2:p.Met1292delinsIleGlufs 100185593 71859085 INDEL_GP36_2008a_2630379_0 2008.05.16 2008.05.16 2009.02.13 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495715_56495716insC;NG_011529.1:g.26824_26825insC;NM_001982.3:c.3905_3906insC;NP_001973.2:p.Ala1302delinsAlaProfs 100068164 68106378 INDEL_GP36_2008a_2627179_0 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495715_56495716insC;NG_011529.1:g.26824_26825insC;NM_001982.3:c.3905_3906insC;NP_001973.2:p.Ala1302delinsAlaProfs 100068168 68106378 INDEL_GP36_2008a_2627179_1 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495715_56495716insC;NG_011529.1:g.26824_26825insC;NM_001982.3:c.3905_3906insC;NP_001973.2:p.Ala1302delinsAlaProfs 100068170 68106378 INDEL_GP36_2008a_2627179_2 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495715_56495716insC;NG_011529.1:g.26824_26825insC;NM_001982.3:c.3905_3906insC;NP_001973.2:p.Ala1302delinsAlaProfs 100068173 68106378 INDEL_GP36_2008a_2627179_3 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495715_56495716insC;NG_011529.1:g.26824_26825insC;NM_001982.3:c.3905_3906insC;NP_001973.2:p.Ala1302delinsAlaProfs 100068177 68106378 INDEL_GP36_2008a_2627179_4 2008.05.16 2008.05.16 2009.02.06 2011.07.08 137 NHLBI-ESP 2065 NC_000012.11:g.56495723G>A;NG_011529.1:g.26832G>A;NM_001982.3:c.3913G>A;NP_001973.2:p.Val1305Ile 342359285 146842909 ESP2500-chr12-56495723 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 2065 NC_000012.11:g.56495798C>T;NG_011529.1:g.26907C>T;NM_001982.3:c.3988C>T;NP_001973.2:p.His1330Tyr 491469481 201199014 nonsyn_185707_chr_12_56495798 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 EXOME_CHIP 2065 NC_000012.11:g.56495813C>T;NG_011529.1:g.26922C>T;NM_001982.3:c.4003C>T;NP_001973.2:p.Pro1335Ser 491469482 202205409 nonsyn_185708_chr_12_56495813 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 2065 NC_000012.11:g.56495835C>T;NG_011529.1:g.26944C>T;NM_001982.3:c.4025C>T;NP_001973.2:p.Thr1342Met 342359286 140679673 ESP2500-chr12-56495835 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 2065 NC_000012.11:g.56495835C>T;NG_011529.1:g.26944C>T;NM_001982.3:c.4025C>T;NP_001973.2:p.Thr1342Met 491469483 140679673 nonsyn_185709_chr_12_56495835 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 DEVINE_LAB 2065 NC_000012.11:g.56495854delG;NG_011529.1:g.26963delG;NM_001982.3:c.*15delG 102279660 67665906 INDEL_GP36_2008a_2629963_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 2065 NC_000012.11:g.56495854delG;NG_011529.1:g.26963delG;NM_001982.3:c.*15delG 102279662 67665906 INDEL_GP36_2008a_2629963_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56495937C>A;NG_011529.1:g.27046C>A;NM_001982.3:c.*98C>A 337368392 142378459 20100804_snps_9011933_chr12_56495937 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 2065 NC_000012.11:g.56495951_56495952insC;NG_011529.1:g.27060_27061insC;NM_001982.3:c.*112_*113insC 40250828 35291818 hCV32454939 2005.07.16 2005.07.16 2006.03.15 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56496048A>G;NG_011529.1:g.27157A>G;NM_001982.3:c.*209A>G 337368393 145948980 20100804_snps_9011934_chr12_56496048 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 LEE 2065 NC_000012.11:g.56496231G>T;NG_011529.1:g.27340G>T;NM_001982.3:c.*392G>T 4431771 3202538 e920699 2002.04.26 2003.10.10 2002.05.29 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56496305T>C;NG_011529.1:g.27414T>C;NM_001982.3:c.*466T>C 462884894 181895949 20101123_snps_9052124_chr12_56496305 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56496525G>C;NG_011529.1:g.27634G>C;NM_001982.3:c.*686G>C 337368394 139969906 20100804_snps_9011935_chr12_56496525 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SC_SNP 2065 NC_000012.11:g.56496536T>C;NG_011529.1:g.27645T>C;NM_001982.3:c.*697T>C 18795635 12322914 SC-CHR9-12_NA17119-200402.chr12.NT_029419.10_18639842 2004.02.20 2004.03.04 2004.02.28 2012.11.28 137 HGSV 2065 NC_000012.11:g.56496591_56496593delAAA;NG_011529.1:g.27700_27702delAAA;NM_001982.3:c.*752_*754delAAA 81135442 57730407 Cor18956_DIV_20070510.chr12_54782882-54782886_1 2007.11.28 2007.11.28 2007.12.14 2011.07.08 137 PJP 2065 NC_000012.11:g.56496591_56496592insAAA;NG_011529.1:g.27700_27701insAAA;NM_001982.3:c.*752_*753insAAA 294753872 150235513 DIP_191576_chr12_54782858 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 HGSV 2065 NC_000012.11:g.56496613A>C;NG_011529.1:g.27722A>C;NM_001982.3:c.*774A>C 84109475 61632170 Cor19129_SNV_20070510.chr12_54782880 2007.12.06 2007.12.06 2007.12.16 2011.07.08 137 TSC-CSHL 2065 NC_000012.11:g.56496618_56496619insAAA;NC_000012.11:g.56496618_56496619insAAAA;NG_011529.1:g.27727_27728insAAA;NG_011529.1:g.27727_27728insAAAA;NM_001982.3:c.*779_*780insAAA;NM_001982.3:c.*779_*780insAAAA 5354368 4016497 TSC1534950 2002.09.20 2003.10.10 2002.10.10 2012.05.16 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56496618_56496619insAAA;NC_000012.11:g.56496618_56496619insAAAA;NG_011529.1:g.27727_27728insAAA;NG_011529.1:g.27727_27728insAAAA;NM_001982.3:c.*779_*780insAAA;NM_001982.3:c.*779_*780insAAAA 95597503 4016497 1104685052999 2008.03.22 2008.12.03 2002.10.10 2012.05.16 137 PJP 2065 NC_000012.11:g.56496624G>A;NG_011529.1:g.27733G>A;NM_001982.3:c.*785G>A 291256989 146076136 SNP_763347_chr12_54782891 2011.01.21 2011.01.21 2011.05.09 2011.07.08 137 1000GENOMES 2065 NC_000012.11:g.56496705T>G;NG_011529.1:g.27814T>G;NM_001982.3:c.*866T>G 462884895 187008330 20101123_snps_9052125_chr12_56496705 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56496853A>G;NG_011529.1:g.27962A>G;NM_001982.3:c.*1014A>G 462884896 191973437 20101123_snps_9052126_chr12_56496853 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA 2065 NC_000012.11:g.56496939A>C;NG_011529.1:g.28048A>C;NM_001982.3:c.*1100A>C 161047249 78743019 HumanOmni1-Quad_v1-0_B_SNP12-54783206-128_T_F_1588031708 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56496939A>C;NG_011529.1:g.28048A>C;NM_001982.3:c.*1100A>C 479252505 78743019 HumanOmni1-Quad_v1-0_C_kgp18861262-0_T_F_1829366436 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56496994T>G;NG_011529.1:g.28103T>G;NM_001982.3:c.*1155T>G 161047250 76373339 HumanOmni1-Quad_v1-0_B_SNP12-54783261-128_T_R_1587995412 variation has been flagged as failed by submitter 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56496994T>G;NG_011529.1:g.28103T>G;NM_001982.3:c.*1155T>G 479346915 76373339 HumanOmni1-Quad_v1-0_C_kgp22852794-0_T_R_1862726477 variation has been flagged as failed by submitter 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56497034A>G;NG_011529.1:g.28143A>G;NM_001982.3:c.*1195A>G 462884897 183300184 20101123_snps_9052127_chr12_56497034 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56497175C>T;NG_011529.1:g.28284C>T;NM_001982.3:c.*1336C>T 337368395 149441887 20100804_snps_9011936_chr12_56497175 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56497212A>G;NG_011529.1:g.28321A>G;NM_001982.3:c.*1373A>G 462884898 188400828 20101123_snps_9052128_chr12_56497212 1.10e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56497216C>T;NG_011529.1:g.28325C>T;NM_001982.3:c.*1377C>T 462884899 190031571 20101123_snps_9052129_chr12_56497216 6.82e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 2065 NC_000012.11:g.56497217_56497218insTC;NG_011529.1:g.28326_28327insTC;NM_001982.3:c.*1378_*1379insTC 327980111 145070592 YRI_chr12_54783484_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56497217G>A;NG_011529.1:g.28326G>A;NM_001982.3:c.*1378G>A 462884900 182361805 20101123_snps_9052130_chr12_56497217 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 2065 NC_000012.11:g.56497279_56497280insT;NG_011529.1:g.28388_28389insT;NM_001982.3:c.*1440_*1441insT 193279887 112478453 BUSHMAN-chr12-54783546-54783546 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56497280T>A;NG_011529.1:g.28389T>A;NM_001982.3:c.*1441T>A 337368396 144785344 20100804_snps_9011937_chr12_56497280 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56497291C>G;NG_011529.1:g.28400C>G;NM_001982.3:c.*1452C>G 337368397 148560992 20100804_snps_9011938_chr12_56497291 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56497315T>C;NG_011529.1:g.28424T>C;NM_001982.3:c.*1476T>C 337368398 142849499 20100804_snps_9011939_chr12_56497315 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56497362_56497365delCTTT;NG_011529.1:g.28471_28474delCTTT;NM_001982.3:c.*1523_*1526delCTTT 327441889 144777490 JPTCHB_chr12_54783628_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 137 YUSUKE 2065 NC_000012.11:g.56497364_56497367delTTCT;NG_011529.1:g.28473_28476delTTCT;NM_001982.3:c.*1525_*1528delTTCT 5019313 3832806 IMS-JST092519 2002.08.12 2003.10.10 2002.08.28 2011.07.08 137 YUSUKE 2065 NC_000012.11:g.56497541delA;NC_000012.11:g.56497541delAinsAAGCCCTAT;NG_011529.1:g.28650delA;NG_011529.1:g.28650delAinsAAGCCCTAT;NM_001982.3:c.*1702delA;NM_001982.3:c.*1702delAinsAAGCCCTAT 5019314 3832807 IMS-JST092520 2002.08.12 2003.10.10 2002.08.28 2011.07.08 137 KWOK 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 888175 773122 OVLP-000804-88985 8.42e-02 2000.09.01 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 1441631 773122 TSC0304867 8.42e-02 2000.09.07 2004.04.07 2000.10.05 2012.11.28 137 KWOK 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 1984869 773122 OVLP-000925-53964 8.42e-02 2000.10.06 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 2520197 773122 AC025162.13_53678 8.42e-02 2000.11.03 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 3720290 773122 AC025162.30_43520 8.42e-02 2001.09.25 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 4137031 773122 AC025162.31_43520 8.42e-02 2001.10.15 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 5786550 773122 NT_009458.11_523076 8.42e-02 2003.01.11 2003.10.10 2000.10.05 2012.11.28 137 PERLEGEN 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 23305791 773122 afd4133345 8.42e-02 2004.08.20 2004.09.13 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 75027093 773122 ILMN_Human_1M_rs773122 8.42e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 AFFY 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 76530646 773122 AFFY_6_1M_SNP_A-8391781 8.42e-02 2007.08.30 2007.08.30 2000.10.05 2012.11.28 137 HGSV 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 80020743 773122 Cor18507_SNV_20070510.chr12_54783886 8.42e-02 2007.11.24 2007.11.24 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 97311604 773122 1103649448856 8.42e-02 2008.03.28 2008.03.28 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 113586074 773122 NA19240_2008_12_16_2464850_chr12_54783886 8.42e-02 2008.12.18 2008.12.18 2000.10.05 2012.11.28 137 ILLUMINA-UK 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 118828053 773122 NA18507_000071862_NCBI36.1_chr12_54783886 8.42e-02 2009.01.21 2009.01.21 2000.10.05 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 119367563 773122 KHS1529810 8.42e-02 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 WTCCC 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 120254980 773122 NT_029419.11_18640925 8.42e-02 2009.04.10 2009.04.24 2000.10.05 2012.11.28 137 ENSEMBL 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 144070320 773122 ENSSNP5515402 8.42e-02 2009.06.06 2009.10.17 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 161047251 773122 HumanOmni1-Quad_v1-0_B_SNP12-54783886-0_B_F_1588219159 8.42e-02 2009.08.07 2009.10.05 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 169932282 773122 NA19240_36_chr12_54783886 8.42e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 174519264 773122 Human1M-Duov3_B_rs773122-128_B_R_1514016797 8.42e-02 2009.10.04 2009.10.04 2000.10.05 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 198225173 773122 BUSHMAN-chr12-54783885 8.42e-02 2010.03.06 2010.03.06 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 225768604 773122 pilot_1_YRI_7578287_chr12_54783886 8.42e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 235946066 773122 pilot_1_CEU_5550695_chr12_54783886 8.42e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 PJP 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 291256990 773122 SNP_763348_chr12_54783886 8.42e-02 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497619T>C;NG_011529.1:g.28728T>C;NM_001982.3:c.*1780T>C 479160390 773122 HumanOmni1-Quad_v1-0_C_kgp10132646-0_B_F_1804646758 8.42e-02 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 20947303 12826115 WGSA-200403-chr12.chr12.NT_029419.10_18640931 2004.03.19 2004.03.19 2004.04.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 74895513 12826115 ILMN_Human_1M_rs12826115 2007.08.29 2007.08.29 2004.04.05 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 119812206 12826115 KHS1856229 2009.02.05 2009.02.05 2004.04.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 160301763 12826115 HumanOmni1-Quad_v1-0_B_rs12826115-128_B_F_1513925416 2009.08.06 2009.10.02 2004.04.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 172252538 12826115 Human1M-Duov3_B_rs12826115-128_B_F_1513925416 2009.10.02 2009.10.02 2004.04.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 479826660 12826115 HumanOmni2.5-4v1_B_rs12826115-128_B_F_1767299432 2012.01.31 2012.01.31 2004.04.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 479833843 12826115 HumanOmniExpress-12v1_C_rs12826115-131_B_F_1857485956 2012.01.31 2012.01.31 2004.04.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 480423886 12826115 HumanOmni1-Quad_v1-0_C_rs12826115-131_B_F_1857485956 2012.01.31 2012.01.31 2004.04.05 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497625C>T;NG_011529.1:g.28734C>T;NM_001982.3:c.*1786C>T 484711783 12826115 HumanOmni2.5-4v1_D_rs12826115-131_B_F_1857485956 2012.02.04 2012.02.04 2004.04.05 2012.11.28 137 SSAHASNP 2065 NC_000012.11:g.56497632T>A;NG_011529.1:g.28741T>A;NM_001982.3:c.*1793T>A 20954123 12827522 WGSA-200403-chr12.chr12.NT_029419.10_18640938 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 WTCCC 2065 NC_000012.11:g.56497641G>T;NG_011529.1:g.28750G>T;NM_001982.3:c.*1802G>T 120258023 79335261 NT_029419.11_18640947 1.69e-02 2009.04.10 2009.04.24 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497641G>T;NG_011529.1:g.28750G>T;NM_001982.3:c.*1802G>T 161047252 79335261 HumanOmni1-Quad_v1-0_B_SNP12-54783908-0_T_R_1588269292 1.69e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 2065 NC_000012.11:g.56497641G>T;NG_011529.1:g.28750G>T;NM_001982.3:c.*1802G>T 235946067 79335261 pilot_1_CEU_5550696_chr12_54783908 1.69e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497641G>T;NG_011529.1:g.28750G>T;NM_001982.3:c.*1802G>T 479439047 79335261 HumanOmni1-Quad_v1-0_C_kgp7697012-0_T_R_1803500401 1.69e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 SC_JCM 2065 NC_000012.11:g.56497679C>A;NG_011529.1:g.28788C>A;NM_001982.3:c.*1840C>A 6016476 4475953 NT_009458.11_523016 2003.01.12 2003.10.10 2003.02.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497679C>A;NG_011529.1:g.28788C>A;NM_001982.3:c.*1840C>A 75071551 4475953 ILMN_Human_1M_rs4475953 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 KRIBB_YJKIM 2065 NC_000012.11:g.56497679C>A;NG_011529.1:g.28788C>A;NM_001982.3:c.*1840C>A 119477877 4475953 KHS1640124 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 ILLUMINA 2065 NC_000012.11:g.56497679C>A;NG_011529.1:g.28788C>A;NM_001982.3:c.*1840C>A 173739523 4475953 Human1M-Duov3_B_rs4475953-128_B_F_1514044981 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 2065 NC_000012.11:g.56497721A>G;NG_011529.1:g.28830A>G;NM_001982.3:c.*1882A>G 198225178 113226419 BUSHMAN-chr12-54783987 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 2065 NC_000012.11:g.56497735A>G;NG_011529.1:g.28844A>G;NM_001982.3:c.*1896A>G 462884901 186628922 20101123_snps_9052131_chr12_56497735 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 2065 NC_000012.11:g.56497754G>A;NG_011529.1:g.28863G>A;NM_001982.3:c.*1915G>A 157508037 77468480 GMI_SNP_96296254 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 2065 NC_000012.11:g.56497754G>A;NG_011529.1:g.28863G>A;NM_001982.3:c.*1915G>A 281408668 77468480 GMI_AK_SNP_5729057 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 # Report date: 2013.2.9, Gene: ERBB3 (2065), ss count: 1689, rs count: 528.