# Format description can be found in the following file: # ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/gene_report/00Gene_report_format_README.txt # Submitter handle (dbSNP submitter ID) Gene ID Submitted HGVS name Calculated HGVS name ss# rs# Submitter's variant ID rs MAF rs Allele origin rs SNP suspect Clinical significance ss Create time ss Upate time rs Create time rs Update time dbSNP build number 1000GENOMES 4741 NC_000008.10:g.24769340A>G;NG_008388.1:g.3067A>G;NM_005382.2:c.-1967A>G 460292215 190347204 20101123_snps_6459445_chr8_24769340 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24769361C>T;NG_008388.1:g.3088C>T;NM_005382.2:c.-1946C>T 460292216 192657690 20101123_snps_6459446_chr8_24769361 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769361C>T;NG_008388.1:g.3088C>T;NM_005382.2:c.-1946C>T 483474414 192657690 HumanOmni2.5-4v1_D_kgp5079450-0_T_R_1809317058 3.70e-03 2012.02.02 2012.02.02 2011.09.17 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769361C>T;NG_008388.1:g.3088C>T;NM_005382.2:c.-1946C>T 485593901 192657690 HumanOmni2.5-4v1_B_SNP8-24825266-0_T_R_1647372533 3.70e-03 2012.02.05 2012.02.05 2011.09.17 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769381T>A;NG_008388.1:g.3108T>A;NM_005382.2:c.-1926T>A 334760901 148862178 20100804_snps_6404442_chr8_24769381 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24769392C>T;NG_008388.1:g.3119C>T;NM_005382.2:c.-1915C>T 460292217 184731607 20101123_snps_6459447_chr8_24769392 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24769507A>T;NG_008388.1:g.3234A>T;NM_005382.2:c.-1800A>T 334760902 143498787 20100804_snps_6404443_chr8_24769507 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24769577G>T;NG_008388.1:g.3304G>T;NM_005382.2:c.-1730G>T 334760903 137968729 20100804_snps_6404444_chr8_24769577 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 259084 196868 OVLP-000621-98096 2.10e-01 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 466637 196868 AF106564.1_31087 2.10e-01 2000.07.12 2006.10.25 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 1244662 196868 OVLP-000804-468144 2.10e-01 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 1942344 196868 OVLP-000925-47941 2.10e-01 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 PERLEGEN 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 24049907 196868 afd1885195 2.10e-01 2004.08.21 2004.09.13 2000.07.12 2012.11.28 137 HGSV 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 83169492 196868 Cor18956_SNV_20070510.chr8_24825500 2.10e-01 2007.12.04 2007.12.04 2000.07.12 2012.11.28 137 BGI 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 104515930 196868 BGI_rs196868 2.10e-01 2008.06.08 2009.06.18 2000.07.12 2012.11.28 137 GMI 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 156160958 196868 GMI_SNP_29239164 2.10e-01 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 160482576 196868 HumanOmni1-Quad_v1-0_B_rs196868-128_T_F_1568038813 2.10e-01 2009.08.06 2009.10.02 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 166410976 196868 NA20431_36_chr8_24825500 2.10e-01 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 198936001 196868 BUSHMAN-chr8-24825499 2.10e-01 2010.03.06 2010.03.06 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 223608552 196868 pilot_1_YRI_5418235_chr8_24825500 2.10e-01 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 234368632 196868 pilot_1_CEU_3973261_chr8_24825500 2.10e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 241240009 196868 pilot_1_CHB+JPT_3125086_chr8_24825500 2.10e-01 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 GMI 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 279738875 196868 GMI_AK_SNP_4059128 2.10e-01 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 294241689 196868 SNP_3748047_chr8_24825500 2.10e-01 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 480362851 196868 HumanOmni2.5-4v1_B_rs196868-128_T_F_1767964386 2.10e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 480374963 196868 HumanOmniExpress-12v1_C_rs196868-131_T_F_1858030196 2.10e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 481145684 196868 HumanOmni1-Quad_v1-0_C_rs196868-131_T_F_1865763307 2.10e-01 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769595T>C;NG_008388.1:g.3322T>C;NM_005382.2:c.-1712T>C 484979006 196868 HumanOmni2.5-4v1_D_rs196868-131_T_F_1858030196 2.10e-01 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 ILLUMINA-UK 4741 NC_000008.10:g.24769706T>C;NG_008388.1:g.3433T>C;NM_005382.2:c.-1601T>C 115871310 73671803 NA18507_000052747_NCBI36.1_chr8_24825611 7.05e-02 2009.01.16 2009.01.16 2009.02.14 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24769706T>C;NG_008388.1:g.3433T>C;NM_005382.2:c.-1601T>C 198936007 73671803 BUSHMAN-chr8-24825610 7.05e-02 2010.03.06 2010.03.06 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769706T>C;NG_008388.1:g.3433T>C;NM_005382.2:c.-1601T>C 210492690 73671803 YRI.trio.3.2010_788823_chr8_24825611 7.05e-02 2010.03.29 2010.03.29 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769706T>C;NG_008388.1:g.3433T>C;NM_005382.2:c.-1601T>C 223608553 73671803 pilot_1_YRI_5418236_chr8_24825611 7.05e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 DEVINE_LAB 4741 NC_000008.10:g.24769769_24769770insTA;NG_008388.1:g.3496_3497insTA;NM_005382.2:c.-1538_-1537insTA 102525638 72554266 INDEL_GP36_2008a_2323229_0 2008.05.18 2008.05.18 2009.02.14 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24769819C>T;NG_008388.1:g.3546C>T;NM_005382.2:c.-1488C>T 460292218 189660716 20101123_snps_6459448_chr8_24769819 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 2275218 1457266 TSC0690022 4.74e-01 2000.10.20 2004.05.16 2000.10.23 2012.11.28 137 YUSUKE 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 5010604 1457266 IMS-JST185227 4.74e-01 2002.08.12 2003.10.10 2000.10.23 2012.11.28 137 WI_SSAHASNP 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 6732413 1457266 NT_023666.13_3144184 4.74e-01 2003.02.13 2003.10.10 2000.10.23 2012.11.28 137 CSHL-HAPMAP 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 19755223 1457266 CSHL-HuDD-200402.chr8.NT_023666.16_3144125 4.74e-01 2004.02.21 2004.03.04 2000.10.23 2012.11.28 137 SSAHASNP 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 22663642 1457266 WGSA-200403-chr8.chr8.NT_023666.16_3144125 4.74e-01 2004.03.21 2004.03.21 2000.10.23 2012.11.28 137 PERLEGEN 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 24049914 1457266 afd1885194 4.74e-01 2004.08.21 2004.09.13 2000.10.23 2012.11.28 137 ABI 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 44894232 1457266 hCV8797645 4.74e-01 2005.07.19 2006.11.03 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 67445573 1457266 HumanHap650Yv1.0_rs1457266 4.74e-01 2006.11.14 2006.11.14 2000.10.23 2012.11.28 137 PERLEGEN 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 69044571 1457266 PGP01885194 4.74e-01 2007.01.30 2007.08.14 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 71168980 1457266 HumanHap650Yv3.0_rs1457266 4.74e-01 2007.04.23 2007.04.23 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 75333829 1457266 ILMN_Human_1M_rs1457266 4.74e-01 2007.08.29 2007.08.29 2000.10.23 2012.11.28 137 HGSV 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 77353700 1457266 Cor12156_SNV_20070510.chr8_24825757 4.74e-01 2007.10.10 2007.10.12 2000.10.23 2012.11.28 137 BCMHGSC_JDW 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 93857102 1457266 JWB-2442883 4.74e-01 2008.03.05 2008.03.05 2000.10.23 2012.11.28 137 HUMANGENOME_JCVI 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 97860553 1457266 1103652275268 4.74e-01 2008.03.30 2008.03.30 2000.10.23 2012.11.28 137 BGI 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 104515931 1457266 BGI_rs1457266 4.74e-01 2008.06.08 2009.06.18 2000.10.23 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 112921547 1457266 CEU.trio.12.15.2008_1954316_chr8_24825757 4.74e-01 2008.12.18 2008.12.18 2000.10.23 2012.11.28 137 KRIBB_YJKIM 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 119393589 1457266 KHS1555836 4.74e-01 2009.02.04 2009.02.04 2000.10.23 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 134447458 1457266 ENSSNP2795153 4.74e-01 2009.05.13 2009.10.15 2000.10.23 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 143343145 1457266 ENSSNP6910872 4.74e-01 2009.06.06 2009.06.06 2000.10.23 2012.11.28 137 GMI 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 156160965 1457266 GMI_SNP_30231149 4.74e-01 2009.06.24 2009.06.24 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 160356418 1457266 HumanOmni1-Quad_v1-0_B_rs1457266-128_B_F_1502329539 4.74e-01 2009.08.06 2009.10.02 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 162254753 1457266 NA07022_36_chr8_24825757 4.74e-01 2009.09.29 2009.09.29 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 166410988 1457266 NA20431_36_chr8_24825757 4.74e-01 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 172516440 1457266 Human1M-Duov3_B_rs1457266-128_B_F_1502329539 4.74e-01 2009.10.02 2009.10.02 2000.10.23 2012.11.28 137 BCM-HGSC-SUB 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 208554267 1457266 BCM_CMT_1011-1653912 4.74e-01 2010.03.19 2010.03.19 2000.10.23 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 223608554 1457266 pilot_1_YRI_5418237_chr8_24825757 4.74e-01 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 234368633 1457266 pilot_1_CEU_3973262_chr8_24825757 4.74e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 241240010 1457266 pilot_1_CHB+JPT_3125087_chr8_24825757 4.74e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 GMI 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 279738876 1457266 GMI_AK_SNP_4059129 4.74e-01 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 PJP 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 294241690 1457266 SNP_3748048_chr8_24825757 4.74e-01 2011.01.21 2011.01.21 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 479983892 1457266 HumanOmni2.5-4v1_B_rs1457266-128_B_F_1773158321 4.74e-01 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 479992591 1457266 HumanOmniExpress-12v1_C_rs1457266-131_B_F_1857593209 4.74e-01 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 480643427 1457266 HumanOmni1-Quad_v1-0_C_rs1457266-131_B_F_1865484193 4.74e-01 2012.01.31 2012.01.31 2000.10.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24769852A>G;NG_008388.1:g.3579A>G;NM_005382.2:c.-1455A>G 484790138 1457266 HumanOmni2.5-4v1_D_rs1457266-131_B_F_1857593209 4.74e-01 2012.02.04 2012.02.04 2000.10.23 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770041C>T;NG_008388.1:g.3768C>T;NM_005382.2:c.-1266C>T 460292219 180680307 20101123_snps_6459449_chr8_24770041 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 4741 NC_000008.10:g.24770164_24770165insA;NG_008388.1:g.3891_3892insA;NM_005382.2:c.-1143_-1142insA 101879690 67363641 INDEL_GP36_2008a_2323231_0 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24770164_24770165insA;NG_008388.1:g.3891_3892insA;NM_005382.2:c.-1143_-1142insA 101879693 67363641 INDEL_GP36_2008a_2323231_1 2008.05.18 2008.05.18 2009.02.05 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24770232T>C;NG_008388.1:g.3959T>C;NM_005382.2:c.-1075T>C 334760904 143434119 20100804_snps_6404445_chr8_24770232 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 DEVINE_LAB 4741 NC_000008.10:g.24770260delC;NG_008388.1:g.3987delC;NM_005382.2:c.-1047delC 102261364 67798341 INDEL_GP36_2008a_2323220_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24770260delC;NG_008388.1:g.3987delC;NM_005382.2:c.-1047delC 102261367 67798341 INDEL_GP36_2008a_2323220_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24770260delC;NG_008388.1:g.3987delC;NM_005382.2:c.-1047delC 102261369 67798341 INDEL_GP36_2008a_2323220_2 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24770260delC;NG_008388.1:g.3987delC;NM_005382.2:c.-1047delC 102261372 67798341 INDEL_GP36_2008a_2323220_3 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 BCM_SSAHASNP 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 10463772 7004116 chr8.NT_023666.15_3144802 1.84e-01 2003.06.29 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 65797521 7004116 Human1-rs7004116 1.84e-01 2006.10.10 2006.10.10 2003.07.11 2012.11.28 137 GMI 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 156160971 7004116 GMI_SNP_29811846 1.84e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 160835964 7004116 HumanOmni1-Quad_v1-0_B_rs7004116-128_B_F_1568058316 1.84e-01 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 198936009 7004116 BUSHMAN-chr8-24826433 1.84e-01 2010.03.06 2010.03.06 2003.07.11 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 223608555 7004116 pilot_1_YRI_5418238_chr8_24826434 1.84e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 234368634 7004116 pilot_1_CEU_3973263_chr8_24826434 1.84e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 241240011 7004116 pilot_1_CHB+JPT_3125088_chr8_24826434 1.84e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 GMI 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 279738877 7004116 GMI_AK_SNP_4059130 1.84e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24770529T>G;NG_008388.1:g.4256T>G;NM_001105541.1:c.-2330T>G;NM_005382.2:c.-778T>G 482437447 7004116 HumanOmni1-Quad_v1-0_C_rs7004116-131_B_F_1863378464 1.84e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 4741 NC_000008.10:g.24770642G>A;NG_008388.1:g.4369G>A;NM_001105541.1:c.-2217G>A;NM_005382.2:c.-665G>A 98059457 71515885 1103652275265 1.10e-02 2008.03.31 2008.03.31 2009.02.13 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24770642G>A;NG_008388.1:g.4369G>A;NM_001105541.1:c.-2217G>A;NM_005382.2:c.-665G>A 143574320 71515885 ENSSNP5275330 1.10e-02 2009.06.06 2009.10.17 2009.02.13 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770642G>A;NG_008388.1:g.4369G>A;NM_001105541.1:c.-2217G>A;NM_005382.2:c.-665G>A 460292220 71515885 20101123_snps_6459450_chr8_24770642 1.10e-02 2011.07.20 2011.07.20 2009.02.13 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770644delA;NG_008388.1:g.4371delA;NM_001105541.1:c.-2215delA;NM_005382.2:c.-663delA 327033391 149738262 JPTCHB_chr8_24826548_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24770663G>A;NG_008388.1:g.4390G>A;NM_001105541.1:c.-2196G>A;NM_005382.2:c.-644G>A 460292221 189460321 20101123_snps_6459451_chr8_24770663 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24770723C>T;NG_008388.1:g.4450C>T;NM_001105541.1:c.-2136C>T;NM_005382.2:c.-584C>T 223608556 115225535 pilot_1_YRI_5418239_chr8_24826628 6.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 SSAHASNP 4741 NC_000008.10:g.24770727G>T;NG_008388.1:g.4454G>T;NM_001105541.1:c.-2132G>T;NM_005382.2:c.-580G>T 22687270 13257409 WGSA-200403-chr8.chr8.NT_023666.16_3145000 2004.03.21 2004.03.21 2004.04.05 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24770767_24770769delAGG;NG_008388.1:g.4494_4496delAGG;NM_001105541.1:c.-2092_-2090delAGG;NM_005382.2:c.-540_-538delAGG 99555847 71726664 INDEL_GP36_2007a_126714_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24770895delG;NG_008388.1:g.4622delG;NM_001105541.1:c.-1964delG;NM_005382.2:c.-412delG 101168063 72156033 INDEL_GP36_2008a_2323236_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 KWOK 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 259083 196867 OVLP-000621-98095 0 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 542105 196867 AF106564.1_29778 0 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 1244661 196867 OVLP-000804-468143 0 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 TSC-CSHL 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 1343045 196867 TSC0190153 0 2000.09.06 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 1942343 196867 OVLP-000925-47940 0 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 WI_SSAHASNP 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 11955608 196867 chr8.NT_023666.15_3145177 0 2003.07.04 2003.10.10 2000.07.12 2012.11.28 137 CSHL-HAPMAP 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 17980965 196867 CSHL-HuCC-200402.chr8.NT_023666.16_3145177 0 2004.02.20 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 22728658 196867 WGSA-200403-chr8.chr8.NT_023666.16_3145177 0 2004.03.21 2004.03.21 2000.07.12 2012.11.28 137 HGSV 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 79018406 196867 Cor18507_SNV_20070510.chr8_24826809 0 2007.10.21 2007.10.21 2000.07.12 2012.11.28 137 HGSV 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 83197013 196867 Cor18555_SNV_20070510.chr8_24826809 0 2007.12.04 2007.12.04 2000.07.12 2012.11.28 137 BCMHGSC_JDW 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 93857103 196867 JWB-2442884 0 2008.03.05 2008.03.05 2000.07.12 2012.11.28 137 HUMANGENOME_JCVI 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 97860554 196867 1103652275269 0 2008.03.30 2008.03.30 2000.07.12 2012.11.28 137 DEVINE_LAB 4741 NC_000008.10:g.24770904delT;NG_008388.1:g.4631delT;NM_001105541.1:c.-1955delT;NM_005382.2:c.-403delT 101668982 66519715 INDEL_GP36_2008a_2323245_0 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 BGI 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 105607108 196867 BGI_rs196867 0 2008.09.11 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 112921551 196867 CEU.trio.12.15.2008_1954317_chr8_24826809 0 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 115152859 196867 NA19240_2008_12_16_1761994_chr8_24826809 0 2008.12.19 2008.12.19 2000.07.12 2012.11.28 137 ILLUMINA-UK 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 115871311 196867 NA18507_000052748_NCBI36.1_chr8_24826809 0 2009.01.16 2009.01.16 2000.07.12 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 134447455 196867 ENSSNP2795154 0 2009.05.13 2009.10.15 2000.07.12 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 143343149 196867 ENSSNP13445535 0 2009.06.06 2009.06.06 2000.07.12 2012.11.28 137 GMI 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 156160979 196867 GMI_SNP_29333488 0 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 162254759 196867 NA07022_36_chr8_24826809 0 2009.09.29 2009.09.29 2000.07.12 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 198936014 196867 BUSHMAN-chr8-24826808 0 2010.03.06 2010.03.06 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 208546717 196867 BCM_CMT_1011-1651397 0 2010.03.19 2010.03.19 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 234368635 196867 pilot_1_CEU_3973264_chr8_24826809 0 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 254198123 196867 SNP45658_8_24826809 0 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 279738878 196867 GMI_AK_SNP_4059131 0 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 4741 NC_000008.10:g.24770904T>G;NG_008388.1:g.4631T>G;NM_001105541.1:c.-1955T>G;NM_005382.2:c.-403T>G 294241691 196867 SNP_3748049_chr8_24826809 0 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 YUSUKE 4741 NC_000008.10:g.24771015C>A;NG_008388.1:g.4742C>A;NM_001105541.1:c.-1844C>A;NM_005382.2:c.-292C>A 4944013 3757981 IMS-JST111250 1.19e-02 2002.08.01 2003.10.10 2002.08.28 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24771015C>A;NG_008388.1:g.4742C>A;NM_001105541.1:c.-1844C>A;NM_005382.2:c.-292C>A 241240012 3757981 pilot_1_CHB+JPT_3125089_chr8_24826920 1.19e-02 2010.05.01 2010.05.01 2002.08.28 2011.09.09 137 BCMHGSC_JDW 4741 NC_000008.10:g.24771163C>A;NG_008388.1:g.4890C>A;NM_001105541.1:c.-1696C>A;NM_005382.2:c.-144C>A 93857104 62502616 JWB-3253296 2008.03.05 2008.03.05 2008.03.25 2011.09.09 137 ENSEMBL 4741 NC_000008.10:g.24771163C>A;NG_008388.1:g.4890C>A;NM_001105541.1:c.-1696C>A;NM_005382.2:c.-144C>A 143343151 62502616 ENSSNP6715446 2009.06.06 2009.06.06 2008.03.25 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24771275C>T;NG_008388.1:g.5002C>T;NM_001105541.1:c.-1584C>T;NM_005382.2:c.-32C>T 488885373 200400111 20110521_exome_117794_chr8_24771275 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24771275C>T;NG_008388.1:g.5002C>T;NM_001105541.1:c.-1584C>T;NM_005382.2:c.-32C>T 491411639 200400111 splice_127865_chr_8_24771275 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CORNELL 4741 NC_000008.10:g.24771318G>A;NG_008388.1:g.5045G>A;NM_001105541.1:c.-1541G>A;NM_005382.2:c.12G>A;NP_005373.2:p.Thr4= 86250093 61735462 hCV25643309 7.80e-03 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771318G>A;NG_008388.1:g.5045G>A;NM_001105541.1:c.-1541G>A;NM_005382.2:c.12G>A;NP_005373.2:p.Thr4= 223608557 61735462 pilot_1_YRI_5418240_chr8_24827223 7.80e-03 2010.04.22 2010.04.22 2008.03.23 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24771318G>A;NG_008388.1:g.5045G>A;NM_001105541.1:c.-1541G>A;NM_005382.2:c.12G>A;NP_005373.2:p.Thr4= 342255163 61735462 ESP2500-chr8-24771318 7.80e-03 2011.03.26 2011.03.26 2008.03.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24771318G>A;NG_008388.1:g.5045G>A;NM_001105541.1:c.-1541G>A;NM_005382.2:c.12G>A;NP_005373.2:p.Thr4= 482165856 61735462 HumanOmni2.5-4v1_D_kgp20549647-0_T_F_1836146195 7.80e-03 2012.02.01 2012.02.01 2008.03.23 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24771318G>A;NG_008388.1:g.5045G>A;NM_001105541.1:c.-1541G>A;NM_005382.2:c.12G>A;NP_005373.2:p.Thr4= 485593904 61735462 HumanOmni2.5-4v1_B_SNP8-24827223-0_T_F_1637082009 7.80e-03 2012.02.05 2012.02.05 2008.03.23 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771318G>A;NG_008388.1:g.5045G>A;NM_001105541.1:c.-1541G>A;NM_005382.2:c.12G>A;NP_005373.2:p.Thr4= 490962230 61735462 20110521_exome_470028_chr8_24771318 7.80e-03 2012.02.21 2012.02.21 2008.03.23 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24771324C>T;NG_008388.1:g.5051C>T;NM_001105541.1:c.-1535C>T;NM_005382.2:c.18C>T;NP_005373.2:p.Asp6= 342255164 148476258 ESP2500-chr8-24771324 5.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771324C>T;NG_008388.1:g.5051C>T;NM_001105541.1:c.-1535C>T;NM_005382.2:c.18C>T;NP_005373.2:p.Asp6= 488885375 148476258 20110521_exome_117795_chr8_24771324 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24771324C>T;NG_008388.1:g.5051C>T;NM_001105541.1:c.-1535C>T;NM_005382.2:c.18C>T;NP_005373.2:p.Asp6= 491922831 148476258 SNV-chr8-24827229 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771326C>G;NG_008388.1:g.5053C>G;NM_001105541.1:c.-1533C>G;NM_005382.2:c.20C>G;NP_005373.2:p.Ser7Trp 460292222 182011677 20101123_snps_6459452_chr8_24771326 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24771326C>G;NG_008388.1:g.5053C>G;NM_001105541.1:c.-1533C>G;NM_005382.2:c.20C>G;NP_005373.2:p.Ser7Trp 491411640 182011677 nonsyn_127866_chr_8_24771326 9.00e-04 2012.03.05 2012.03.05 2011.09.17 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24771356T>G;NG_008388.1:g.5083T>G;NM_001105541.1:c.-1503T>G;NM_005382.2:c.50T>G;NP_005373.2:p.Val17Gly 491411641 199656813 nonsyn_127867_chr_8_24771356 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 4741 NC_000008.10:g.24771387C>G;NG_008388.1:g.5114C>G;NM_001105541.1:c.-1472C>G;NM_005382.2:c.81C>G;NP_005373.2:p.Val27= 342255165 142635042 ESP2500-chr8-24771387 3.70e-03 2011.03.26 2011.03.26 2011.05.09 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24771387C>G;NG_008388.1:g.5114C>G;NM_001105541.1:c.-1472C>G;NM_005382.2:c.81C>G;NP_005373.2:p.Val27= 460292223 142635042 20101123_snps_6459453_chr8_24771387 3.70e-03 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 NHLBI-ESP 4741 NC_000008.10:g.24771410T>A;NG_008388.1:g.5137T>A;NM_001105541.1:c.-1449T>A;NM_005382.2:c.104T>A;NP_005373.2:p.Phe35Tyr 342255166 60857059 ESP2500-chr8-24771410 untested 2011.03.26 2011.03.26 2007.12.16 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24771410T>A;NG_008388.1:g.5137T>A;NM_001105541.1:c.-1449T>A;NM_005382.2:c.104T>A;NP_005373.2:p.Phe35Tyr 491411642 60857059 nonsyn_127868_chr_8_24771410 untested 2012.03.05 2012.03.05 2007.12.16 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24771410T>A;NG_008388.1:g.5137T>A;NM_001105541.1:c.-1449T>A;NM_005382.2:c.104T>A;NP_005373.2:p.Phe35Tyr 491922832 60857059 SNV-chr8-24827315 untested 2012.03.07 2012.03.13 2007.12.16 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.104T>A NC_000008.10:g.24771410T>A;NG_008388.1:g.5137T>A;NM_001105541.1:c.-1449T>A;NM_005382.2:c.104T>A;NP_005373.2:p.Phe35Tyr 538292485 60857059 NEF3:c.104T>A untested 2012.07.31 2012.07.31 2007.12.16 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771447C>T;NG_008388.1:g.5174C>T;NM_001105541.1:c.-1412C>T;NM_005382.2:c.141C>T;NP_005373.2:p.Thr47= 488885377 201628186 20110521_exome_117796_chr8_24771447 2.70e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771471C>T;NG_008388.1:g.5198C>T;NM_001105541.1:c.-1388C>T;NM_005382.2:c.165C>T;NP_005373.2:p.Ser55= 488885379 200575013 20110521_exome_117797_chr8_24771471 1.80e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24771577G>A;NG_008388.1:g.5304G>A;NM_001105541.1:c.-1282G>A;NM_005382.2:c.271G>A;NP_005373.2:p.Gly91Ser 342255167 139867342 ESP2500-chr8-24771577 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24771646G>A;NG_008388.1:g.5373G>A;NM_001105541.1:c.-1213G>A;NM_005382.2:c.340G>A;NP_005373.2:p.Gly114Ser 342255168 143225915 ESP2500-chr8-24771646 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24771693T>G;NG_008388.1:g.5420T>G;NM_001105541.1:c.-1166T>G;NM_005382.2:c.387T>G;NP_005373.2:p.Ile129Met 342255169 59062625 ESP2500-chr8-24771693 9.00e-04 untested 2011.03.26 2011.03.26 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771693T>G;NG_008388.1:g.5420T>G;NM_001105541.1:c.-1166T>G;NM_005382.2:c.387T>G;NP_005373.2:p.Ile129Met 460292224 59062625 20101123_snps_6459454_chr8_24771693 9.00e-04 untested 2011.07.20 2011.07.20 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771693T>G;NG_008388.1:g.5420T>G;NM_001105541.1:c.-1166T>G;NM_005382.2:c.387T>G;NP_005373.2:p.Ile129Met 490962231 59062625 20110521_exome_470029_chr8_24771693 9.00e-04 untested 2012.02.21 2012.02.21 2007.12.15 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24771693T>G;NG_008388.1:g.5420T>G;NM_001105541.1:c.-1166T>G;NM_005382.2:c.387T>G;NP_005373.2:p.Ile129Met 491411643 59062625 nonsyn_127869_chr_8_24771693 9.00e-04 untested 2012.03.05 2012.03.05 2007.12.15 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24771693T>G;NG_008388.1:g.5420T>G;NM_001105541.1:c.-1166T>G;NM_005382.2:c.387T>G;NP_005373.2:p.Ile129Met 491922833 59062625 SNV-chr8-24827598 9.00e-04 untested 2012.03.07 2012.03.13 2007.12.15 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.387T>G NC_000008.10:g.24771693T>G;NG_008388.1:g.5420T>G;NM_001105541.1:c.-1166T>G;NM_005382.2:c.387T>G;NP_005373.2:p.Ile129Met 538292905 59062625 NEF3:c.387T>G 9.00e-04 untested 2012.07.31 2012.07.31 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771736G>A;NG_008388.1:g.5463G>A;NM_001105541.1:c.-1123G>A;NM_005382.2:c.430G>A;NP_005373.2:p.Ala144Thr 334760905 147132694 20100804_snps_6404446_chr8_24771736 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 4741 NC_000008.10:g.24771753G>C;NG_008388.1:g.5480G>C;NM_001105541.1:c.-1106G>C;NM_005382.2:c.447G>C;NP_005373.2:p.Ala149= 342255170 59222096 ESP2500-chr8-24771753 untested 2011.03.26 2011.03.26 2007.12.15 2012.10.31 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.447G>C NC_000008.10:g.24771753G>C;NG_008388.1:g.5480G>C;NM_001105541.1:c.-1106G>C;NM_005382.2:c.447G>C;NP_005373.2:p.Ala149= 538292908 59222096 NEF3:c.447G>C untested 2012.07.31 2012.07.31 2007.12.15 2012.10.31 137 DEVINE_LAB 4741 NC_000008.10:g.24771795delG;NG_008388.1:g.5522delG;NM_001105541.1:c.-1064delG;NM_005382.2:c.489delG;NP_005373.2:p.Met163=fs 100638239 66646543 INDEL_GP36_2008a_2323263_0 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24771795delG;NG_008388.1:g.5522delG;NM_001105541.1:c.-1064delG;NM_005382.2:c.489delG;NP_005373.2:p.Met163=fs 100638243 66646543 INDEL_GP36_2008a_2323263_1 2008.05.17 2008.05.17 2009.02.04 2011.07.08 137 EXOME_CHIP 4741 NC_000008.10:g.24771809A>G;NG_008388.1:g.5536A>G;NM_001105541.1:c.-1050A>G;NM_005382.2:c.503A>G;NP_005373.2:p.Lys168Arg 491411644 199646750 nonsyn_127870_chr_8_24771809 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 4741 NC_000008.10:g.24771826G>A;NG_008388.1:g.5553G>A;NM_001105541.1:c.-1033G>A;NM_005382.2:c.520G>A;NP_005373.2:p.Asp174Asn 342255171 149871966 ESP2500-chr8-24771826 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 4741 NC_000008.10:g.24771884C>A;NG_008388.1:g.5611C>A;NM_001105541.1:c.-975C>A;NM_005382.2:c.578C>A;NP_005373.2:p.Ala193Glu 491411645 200725476 nonsyn_127871_chr_8_24771884 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24771884C>A;NG_008388.1:g.5611C>A;NM_001105541.1:c.-975C>A;NM_005382.2:c.578C>A;NP_005373.2:p.Ala193Glu 491922834 200725476 SNV-chr8-24827789 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24771885G>T;NG_008388.1:g.5612G>T;NM_001105541.1:c.-974G>T;NM_005382.2:c.579G>T;NP_005373.2:p.Ala193= 342255172 145424883 ESP2500-chr8-24771885 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24771902C>G;NG_008388.1:g.5629C>G;NM_001105541.1:c.-957C>G;NM_005382.2:c.596C>G;NP_005373.2:p.Thr199Ser 342255173 149208396 ESP2500-chr8-24771902 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24771933C>T;NG_008388.1:g.5660C>T;NM_001105541.1:c.-926C>T;NM_005382.2:c.627C>T;NP_005373.2:p.Asp209= 210492692 76784194 YRI.trio.3.2010_788824_chr8_24827838 3.70e-03 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771933C>T;NG_008388.1:g.5660C>T;NM_001105541.1:c.-926C>T;NM_005382.2:c.627C>T;NP_005373.2:p.Asp209= 223608558 76784194 pilot_1_YRI_5418241_chr8_24827838 3.70e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24771933C>T;NG_008388.1:g.5660C>T;NM_001105541.1:c.-926C>T;NM_005382.2:c.627C>T;NP_005373.2:p.Asp209= 342255174 76784194 ESP2500-chr8-24771933 3.70e-03 2011.03.26 2011.03.26 2009.12.01 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24771933C>T;NG_008388.1:g.5660C>T;NM_001105541.1:c.-926C>T;NM_005382.2:c.627C>T;NP_005373.2:p.Asp209= 482117676 76784194 HumanOmni2.5-4v1_D_kgp20303424-0_T_R_1835300792 3.70e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24771933C>T;NG_008388.1:g.5660C>T;NM_001105541.1:c.-926C>T;NM_005382.2:c.627C>T;NP_005373.2:p.Asp209= 485593906 76784194 HumanOmni2.5-4v1_B_SNP8-24827838-0_T_R_1640390750 3.70e-03 2012.02.05 2012.02.05 2009.12.01 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24771933C>T;NG_008388.1:g.5660C>T;NM_001105541.1:c.-926C>T;NM_005382.2:c.627C>T;NP_005373.2:p.Asp209= 490962232 76784194 20110521_exome_470030_chr8_24771933 3.70e-03 2012.02.21 2012.02.21 2009.12.01 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24771934A>C;NG_008388.1:g.5661A>C;NM_001105541.1:c.-925A>C;NM_005382.2:c.628A>C;NP_005373.2:p.Ile210Leu 342255175 139199878 ESP2500-chr8-24771934 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24771945G>A;NG_008388.1:g.5672G>A;NM_001105541.1:c.-914G>A;NM_005382.2:c.639G>A;NP_005373.2:p.Ala213= 488885381 199872774 20110521_exome_117798_chr8_24771945 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CORNELL 4741 NC_000008.10:g.24771984G>T;NG_008388.1:g.5711G>T;NM_001105541.1:c.-875G>T;NM_005382.2:c.678G>T;NP_005373.2:p.Ser226= 86250094 61735463 hCV25643310 2008.01.21 2010.09.29 2008.03.23 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24771984G>T;NG_008388.1:g.5711G>T;NM_001105541.1:c.-875G>T;NM_005382.2:c.678G>T;NP_005373.2:p.Ser226= 342255176 61735463 ESP2500-chr8-24771984 2011.03.26 2011.03.26 2008.03.23 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24772047C>A;NG_008388.1:g.5774C>A;NM_001105541.1:c.-812C>A;NM_005382.2:c.741C>A;NP_005373.2:p.Ala247= 334760906 139378915 20100804_snps_6404447_chr8_24772047 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772047C>A;NG_008388.1:g.5774C>A;NM_001105541.1:c.-812C>A;NM_005382.2:c.741C>A;NP_005373.2:p.Ala247= 490962233 139378915 20110521_exome_470031_chr8_24772047 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24772143C>A;NG_008388.1:g.5870C>A;NM_001105541.1:c.-716C>A;NM_005382.2:c.837C>A;NP_005373.2:p.Ser279Arg 491411646 57688534 nonsyn_127872_chr_8_24772143 untested 2012.03.05 2012.03.05 2007.12.14 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24772143C>A;NG_008388.1:g.5870C>A;NM_001105541.1:c.-716C>A;NM_005382.2:c.837C>A;NP_005373.2:p.Ser279Arg 491922835 57688534 SNV-chr8-24828048 untested 2012.03.07 2012.03.13 2007.12.14 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.837C>A NC_000008.10:g.24772143C>A;NG_008388.1:g.5870C>A;NM_001105541.1:c.-716C>A;NM_005382.2:c.837C>A;NP_005373.2:p.Ser279Arg 538292486 57688534 NEF3:c.837C>A untested 2012.07.31 2012.07.31 2007.12.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772150G>C;NG_008388.1:g.5877G>C;NM_001105541.1:c.-709G>C;NM_005382.2:c.844G>C;NP_005373.2:p.Asp282His 460292225 183535249 20101123_snps_6459455_chr8_24772150 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772150G>C;NG_008388.1:g.5877G>C;NM_001105541.1:c.-709G>C;NM_005382.2:c.844G>C;NP_005373.2:p.Asp282His 490962234 183535249 20110521_exome_470032_chr8_24772150 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772189C>A;NG_008388.1:g.5916C>A;NM_001105541.1:c.-670C>A;NM_005382.2:c.883C>A;NP_005373.2:p.Arg295Ser 488885383 201666371 20110521_exome_117799_chr8_24772189 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24772189C>A;NG_008388.1:g.5916C>A;NM_001105541.1:c.-670C>A;NM_005382.2:c.883C>A;NP_005373.2:p.Arg295Ser 491411647 201666371 nonsyn_127873_chr_8_24772189 5.00e-04 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24772221G>C;NG_008388.1:g.5948G>C;NM_001105541.1:c.-638G>C;NM_005382.2:c.915G>C;NP_005373.2:p.Gln305His 491411648 200933433 nonsyn_127874_chr_8_24772221 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 4741 NC_000008.10:g.24772269G>A;NG_008388.1:g.5996G>A;NM_001105541.1:c.-590G>A;NM_005382.2:c.963G>A;NP_005373.2:p.Arg321= 488885385 201232572 20110521_exome_117800_chr8_24772269 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.1006G>A NC_000008.10:g.24772312G>A;NG_008388.1:g.6039G>A;NM_001105541.1:c.-547G>A;NM_005382.2:c.1006G>A;NP_005373.2:p.Gly336Ser 538292484 56902012 NEF3:c.1006G>A untested 2012.07.31 2012.07.31 2007.12.14 2012.10.31 137 ABI 4741 NC_000008.10:g.24772519delC;NG_008388.1:g.6246delC;NM_001105541.1:c.-340delC;NM_005382.2:c.1080+133delC 43234570 35935642 hCV26133449 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 PJP 4741 NC_000008.10:g.24772519delC;NG_008388.1:g.6246delC;NM_001105541.1:c.-340delC;NM_005382.2:c.1080+133delC 295373578 35935642 DIP_811282_chr8_24828425 2011.01.23 2011.01.23 2006.03.15 2011.07.08 137 ABI 4741 NC_000008.10:g.24772632_24772633insC;NG_008388.1:g.6359_6360insC;NM_001105541.1:c.-227_-226insC;NM_005382.2:c.1080+246_1080+247insC 43191478 35234257 hCV32649157 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24772649C>T;NG_008388.1:g.6376C>T;NM_001105541.1:c.-210C>T;NM_005382.2:c.1080+263C>T 334760907 141567711 20100804_snps_6404448_chr8_24772649 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 35318465 28558778 TA-079.chr8_24828563 2.60e-01 2005.03.11 2005.05.24 2012.11.28 137 HGSV 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 82261307 28558778 Cor18555_SNV_20070510.chr8_24828563 2.60e-01 2007.12.02 2007.12.02 2005.05.24 2012.11.28 137 BGI 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 104515932 28558778 BGI_rs28558778 2.60e-01 2008.06.08 2009.06.18 2005.05.24 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 115152864 28558778 NA19240_2008_12_16_1761995_chr8_24828563 2.60e-01 2008.12.19 2008.12.19 2005.05.24 2012.11.28 137 GMI 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 156160986 28558778 GMI_SNP_29316012 2.60e-01 2009.06.24 2009.06.24 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 164210863 28558778 NA19240_36_chr8_24828563 2.60e-01 2009.09.29 2009.09.29 2005.05.24 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 166410995 28558778 NA20431_36_chr8_24828563 2.60e-01 2009.09.30 2009.09.30 2005.05.24 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 198936017 28558778 BUSHMAN-chr8-24828562 2.60e-01 2010.03.06 2010.03.06 2005.05.24 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 223608559 28558778 pilot_1_YRI_5418242_chr8_24828563 2.60e-01 2010.04.22 2010.04.22 2005.05.24 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 234368636 28558778 pilot_1_CEU_3973265_chr8_24828563 2.60e-01 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 241240013 28558778 pilot_1_CHB+JPT_3125090_chr8_24828563 2.60e-01 2010.05.01 2010.05.01 2005.05.24 2012.11.28 137 GMI 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 279738879 28558778 GMI_AK_SNP_4059132 2.60e-01 2010.12.16 2010.12.16 2005.05.24 2012.11.28 137 PJP 4741 NC_000008.10:g.24772658G>C;NG_008388.1:g.6385G>C;NM_001105541.1:c.-201G>C;NM_005382.2:c.1080+272G>C 294241692 28558778 SNP_3748050_chr8_24828563 2.60e-01 2011.01.21 2011.01.21 2005.05.24 2012.11.28 137 DEVINE_LAB 4741 NC_000008.10:g.24772707delG;NG_008388.1:g.6434delG;NM_001105541.1:c.-152delG;NM_005382.2:c.1080+321delG 100097908 66960213 INDEL_GP36_2008a_2323280_0 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24772707delG;NG_008388.1:g.6434delG;NM_001105541.1:c.-152delG;NM_005382.2:c.1080+321delG 100097910 66960213 INDEL_GP36_2008a_2323280_1 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24772888G>A;NG_008388.1:g.6615G>A;NM_001105541.1:c.-49+78G>A;NM_005382.2:c.1081-230G>A 460292226 186324315 20101123_snps_6459456_chr8_24772888 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 4741 NC_000008.10:g.24772926T>G;NG_008388.1:g.6653T>G;NM_001105541.1:c.-49+116T>G;NM_005382.2:c.1081-192T>G 115871312 73671804 NA18507_000052749_NCBI36.1_chr8_24828831 1.56e-02 2009.01.16 2009.01.16 2009.02.14 2011.09.09 137 BUSHMAN 4741 NC_000008.10:g.24772926T>G;NG_008388.1:g.6653T>G;NM_001105541.1:c.-49+116T>G;NM_005382.2:c.1081-192T>G 198936022 73671804 BUSHMAN-chr8-24828830 1.56e-02 2010.03.06 2010.03.06 2009.02.14 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24772926T>G;NG_008388.1:g.6653T>G;NM_001105541.1:c.-49+116T>G;NM_005382.2:c.1081-192T>G 223608560 73671804 pilot_1_YRI_5418243_chr8_24828831 1.56e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24772929T>A;NG_008388.1:g.6656T>A;NM_001105541.1:c.-49+119T>A;NM_005382.2:c.1081-189T>A 334760908 150889108 20100804_snps_6404449_chr8_24772929 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24773017G>C;NG_008388.1:g.6744G>C;NM_001105541.1:c.-48-101G>C;NM_005382.2:c.1081-101G>C 460292227 191228797 20101123_snps_6459457_chr8_24773017 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24773030G>A;NG_008388.1:g.6757G>A;NM_001105541.1:c.-48-88G>A;NM_005382.2:c.1081-88G>A 334760909 139094251 20100804_snps_6404450_chr8_24773030 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CORNELL 4741 NC_000008.10:g.24773141T>C;NG_008388.1:g.6868T>C;NM_001105541.1:c.-25T>C;NM_005382.2:c.1104T>C;NP_005373.2:p.Asn368= 86250097 59419000 hCV25643321 4.60e-03 untested 2008.01.21 2010.09.29 2007.12.15 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24773141T>C;NG_008388.1:g.6868T>C;NM_001105541.1:c.-25T>C;NM_005382.2:c.1104T>C;NP_005373.2:p.Asn368= 342255177 59419000 ESP2500-chr8-24773141 4.60e-03 untested 2011.03.26 2011.03.26 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773141T>C;NG_008388.1:g.6868T>C;NM_001105541.1:c.-25T>C;NM_005382.2:c.1104T>C;NP_005373.2:p.Asn368= 460292228 59419000 20101123_snps_6459458_chr8_24773141 4.60e-03 untested 2011.07.20 2011.07.20 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773141T>C;NG_008388.1:g.6868T>C;NM_001105541.1:c.-25T>C;NM_005382.2:c.1104T>C;NP_005373.2:p.Asn368= 490962235 59419000 20110521_exome_470033_chr8_24773141 4.60e-03 untested 2012.02.21 2012.02.21 2007.12.15 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24773141T>C;NG_008388.1:g.6868T>C;NM_001105541.1:c.-25T>C;NM_005382.2:c.1104T>C;NP_005373.2:p.Asn368= 491922836 59419000 SNV-chr8-24829046 4.60e-03 untested 2012.03.07 2012.03.13 2007.12.15 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.1104T>C NC_000008.10:g.24773141T>C;NG_008388.1:g.6868T>C;NM_001105541.1:c.-25T>C;NM_005382.2:c.1104T>C;NP_005373.2:p.Asn368= 538292906 59419000 NEF3:c.1104T>C 4.60e-03 untested 2012.07.31 2012.07.31 2007.12.15 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24773178T>C;NG_008388.1:g.6905T>C;NM_001105541.1:c.13T>C;NM_005382.2:c.1141T>C;NP_001099011.1:p.Leu5=;NP_005373.2:p.Leu381= 198936026 111844007 BUSHMAN-chr8-24829082 2010.03.06 2010.03.06 2010.07.04 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24773178T>C;NG_008388.1:g.6905T>C;NM_001105541.1:c.13T>C;NM_005382.2:c.1141T>C;NP_001099011.1:p.Leu5=;NP_005373.2:p.Leu381= 342255178 111844007 ESP2500-chr8-24773178 2011.03.26 2011.03.26 2010.07.04 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24773178T>C;NG_008388.1:g.6905T>C;NM_001105541.1:c.13T>C;NM_005382.2:c.1141T>C;NP_001099011.1:p.Leu5=;NP_005373.2:p.Leu381= 491411649 111844007 synctl_127875_chr_8_24773178 2012.03.05 2012.03.05 2010.07.04 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24773178T>C;NG_008388.1:g.6905T>C;NM_001105541.1:c.13T>C;NM_005382.2:c.1141T>C;NP_001099011.1:p.Leu5=;NP_005373.2:p.Leu381= 491922837 111844007 SNV-chr8-24829083 2012.03.07 2012.03.13 2010.07.04 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24773185A>G;NG_008388.1:g.6912A>G;NM_001105541.1:c.20A>G;NM_005382.2:c.1148A>G;NP_001099011.1:p.Glu7Gly;NP_005373.2:p.Glu383Gly 491411650 200024394 nonsyn_127876_chr_8_24773185 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 1000GENOMES 4741 NC_000008.10:g.24773204C>T;NG_008388.1:g.6931C>T;NM_001105541.1:c.39C>T;NM_005382.2:c.1167C>T;NP_001099011.1:p.Asn13=;NP_005373.2:p.Asn389= 488885387 200056948 20110521_exome_117801_chr8_24773204 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24773222T>C;NG_008388.1:g.6949T>C;NM_001105541.1:c.57T>C;NM_005382.2:c.1185T>C;NP_001099011.1:p.Asp19=;NP_005373.2:p.Asp395= 342255179 141854965 ESP2500-chr8-24773222 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24773259G>T;NG_008388.1:g.6986G>T;NM_001105541.1:c.77+17G>T;NM_005382.2:c.1205+17G>T 460292229 186811095 20101123_snps_6459459_chr8_24773259 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773259G>T;NG_008388.1:g.6986G>T;NM_001105541.1:c.77+17G>T;NM_005382.2:c.1205+17G>T 490962236 186811095 20110521_exome_470034_chr8_24773259 9.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24773259G>T;NG_008388.1:g.6986G>T;NM_001105541.1:c.77+17G>T;NM_005382.2:c.1205+17G>T 491922838 186811095 SNV-chr8-24829164 9.00e-04 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773265G>A;NG_008388.1:g.6992G>A;NM_001105541.1:c.77+23G>A;NM_005382.2:c.1205+23G>A 488885389 201942700 20110521_exome_117802_chr8_24773265 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 DEVINE_LAB 4741 NC_000008.10:g.24773271delA;NG_008388.1:g.6998delA;NM_001105541.1:c.77+29delA;NM_005382.2:c.1205+29delA 101145325 72119113 INDEL_GP36_2008a_2323288_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24773291G>A;NG_008388.1:g.7018G>A;NM_001105541.1:c.77+49G>A;NM_005382.2:c.1205+49G>A 115152871 73545170 NA19240_2008_12_16_1761996_chr8_24829196 9.20e-03 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24773291G>A;NG_008388.1:g.7018G>A;NM_001105541.1:c.77+49G>A;NM_005382.2:c.1205+49G>A 164210874 73545170 NA19240_36_chr8_24829196 9.20e-03 2009.09.29 2009.09.29 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773291G>A;NG_008388.1:g.7018G>A;NM_001105541.1:c.77+49G>A;NM_005382.2:c.1205+49G>A 223608561 73545170 pilot_1_YRI_5418244_chr8_24829196 9.20e-03 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24773291G>A;NG_008388.1:g.7018G>A;NM_001105541.1:c.77+49G>A;NM_005382.2:c.1205+49G>A 482122305 73545170 HumanOmni2.5-4v1_D_kgp20326488-0_B_R_1835370918 9.20e-03 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24773291G>A;NG_008388.1:g.7018G>A;NM_001105541.1:c.77+49G>A;NM_005382.2:c.1205+49G>A 485593908 73545170 HumanOmni2.5-4v1_B_SNP8-24829196-0_B_R_1639572081 9.20e-03 2012.02.05 2012.02.05 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773291G>A;NG_008388.1:g.7018G>A;NM_001105541.1:c.77+49G>A;NM_005382.2:c.1205+49G>A 490962237 73545170 20110521_exome_470035_chr8_24773291 9.20e-03 2012.02.21 2012.02.21 2009.02.14 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24773291G>A;NG_008388.1:g.7018G>A;NM_001105541.1:c.77+49G>A;NM_005382.2:c.1205+49G>A 491922839 73545170 SNV-chr8-24829196 9.20e-03 2012.03.07 2012.03.13 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773300G>A;NG_008388.1:g.7027G>A;NM_001105541.1:c.77+58G>A;NM_005382.2:c.1205+58G>A 334760910 149916684 20100804_snps_6404451_chr8_24773300 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24773341G>C;NG_008388.1:g.7068G>C;NM_001105541.1:c.77+99G>C;NM_005382.2:c.1205+99G>C 334760911 145996154 20100804_snps_6404452_chr8_24773341 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24773345T>G;NG_008388.1:g.7072T>G;NM_001105541.1:c.77+103T>G;NM_005382.2:c.1205+103T>G 334760912 139935951 20100804_snps_6404453_chr8_24773345 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24773654G>C;NG_008388.1:g.7381G>C;NM_001105541.1:c.77+412G>C;NM_005382.2:c.1205+412G>C 234368637 76275358 pilot_1_CEU_3973266_chr8_24829559 9.00e-04 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773829_24773830delAT;NG_008388.1:g.7556_7557delAT;NM_001105541.1:c.77+587_77+588delAT;NM_005382.2:c.1205+587_1205+588delAT 500137242 201729942 20110316_indels_chr8_24773828_24773829 1.33e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24773864C>T;NG_008388.1:g.7591C>T;NM_001105541.1:c.77+622C>T;NM_005382.2:c.1205+622C>T 460292230 190797230 20101123_snps_6459460_chr8_24773864 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 4741 NC_000008.10:g.24773908G>A;NG_008388.1:g.7635G>A;NM_001105541.1:c.77+666G>A;NM_005382.2:c.1205+666G>A 19736541 12541275 CSHL-HuDD-200402.chr8.NT_023666.16_3148181 2004.02.21 2004.03.04 2004.02.28 2011.09.09 137 CSHL-HAPMAP 4741 NC_000008.10:g.24773908G>A;NG_008388.1:g.7635G>A;NM_001105541.1:c.77+666G>A;NM_005382.2:c.1205+666G>A 68399418 12541275 perlegen:assay:25774.6497805:1 2007.01.11 2007.01.11 2004.02.28 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24774000T>C;NG_008388.1:g.7727T>C;NM_001105541.1:c.78-574T>C;NM_005382.2:c.1206-574T>C 241240014 75100293 pilot_1_CHB+JPT_3125091_chr8_24829905 2.30e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24774008G>A;NG_008388.1:g.7735G>A;NM_001105541.1:c.78-566G>A;NM_005382.2:c.1206-566G>A 334760913 143457695 20100804_snps_6404454_chr8_24774008 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 10432287 6557783 chr8.NT_023666.15_3148473 variation has been flagged as failed by submitter 2003.06.29 2003.10.10 2003.07.11 2012.11.28 137 SC_JCM 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 11266585 6557783 chr8.NT_023666.15_3148473 variation has been flagged as failed by submitter 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 22711980 6557783 WGSA-200403-chr8.chr8.NT_023666.16_3148473 variation has been flagged as failed by submitter 2004.03.21 2004.03.21 2003.07.11 2012.11.28 137 PERLEGEN 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 24223277 6557783 afd4442126 variation has been flagged as failed by submitter 2004.08.21 2004.09.13 2003.07.11 2012.11.28 137 HGSV 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 77139259 6557783 Cor12156_SNV_20070510.chr8_24830105 variation has been flagged as failed by submitter 2007.10.09 2007.10.11 2003.07.11 2012.11.28 137 HGSV 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 84213688 6557783 Cor19129_SNV_20070510.chr8_24830105 variation has been flagged as failed by submitter 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 BCMHGSC_JDW 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 93857105 6557783 JWB-2442885 variation has been flagged as failed by submitter 2008.03.05 2008.03.05 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 97860555 6557783 1103652275270 variation has been flagged as failed by submitter 2008.03.30 2008.03.30 2003.07.11 2012.11.28 137 BGI 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 104515933 6557783 BGI_rs6557783 variation has been flagged as failed by submitter 2008.06.08 2009.06.18 2003.07.11 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 112921555 6557783 CEU.trio.12.15.2008_1954318_chr8_24830105 variation has been flagged as failed by submitter 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 133476519 6557783 ENSSNP2795156 variation has been flagged as failed by submitter 2009.05.12 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 143343156 6557783 ENSSNP13445537 variation has been flagged as failed by submitter 2009.06.06 2009.06.06 2003.07.11 2012.11.28 137 GMI 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 156160993 6557783 GMI_SNP_144234675 variation has been flagged as failed by submitter 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 162254765 6557783 NA07022_36_chr8_24830105 variation has been flagged as failed by submitter 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 166411008 6557783 NA20431_36_chr8_24830105 variation has been flagged as failed by submitter 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 208685264 6557783 BCM_CMT_1011-1697354 variation has been flagged as failed by submitter 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 BL 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 254198130 6557783 SNP45659_8_24830105 variation has been flagged as failed by submitter 2010.08.19 2010.08.19 2003.07.11 2012.11.28 137 GMI 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 279738880 6557783 GMI_AK_SNP_4059133 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 294241693 6557783 SNP_3748051_chr8_24830105 variation has been flagged as failed by submitter 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 483750589 6557783 HumanOmni2.5-4v1_D_kgp6579266-0_B_F_1809449579 variation has been flagged as failed by submitter 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774200T>C;NG_008388.1:g.7927T>C;NM_001105541.1:c.78-374T>C;NM_005382.2:c.1206-374T>C 485593910 6557783 HumanOmni2.5-4v1_B_SNP8-24830105-0_B_F_1621031631 variation has been flagged as failed by submitter 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774217G>T;NG_008388.1:g.7944G>T;NM_001105541.1:c.78-357G>T;NM_005382.2:c.1206-357G>T 482814401 200596355 HumanOmni2.5-4v1_D_kgp22804224-0_T_R_1860359588 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774217G>T;NG_008388.1:g.7944G>T;NM_001105541.1:c.78-357G>T;NM_005382.2:c.1206-357G>T 485593912 200596355 HumanOmni2.5-4v1_B_SNP8-24830122-0_T_R_1616527226 2012.02.05 2012.02.05 2012.05.04 2012.11.28 137 HGSV 4741 NC_000008.10:g.24774281A>C;NG_008388.1:g.8008A>C;NM_001105541.1:c.78-293A>C;NM_005382.2:c.1206-293A>C 80552339 59128512 Cor18507_SNV_20070510.chr8_24830186 1.83e-02 2007.11.26 2007.11.26 2007.12.15 2011.09.09 137 ILLUMINA-UK 4741 NC_000008.10:g.24774281A>C;NG_008388.1:g.8008A>C;NM_001105541.1:c.78-293A>C;NM_005382.2:c.1206-293A>C 115871313 59128512 NA18507_000052750_NCBI36.1_chr8_24830186 1.83e-02 2009.01.16 2009.01.16 2007.12.15 2011.09.09 137 BUSHMAN 4741 NC_000008.10:g.24774281A>C;NG_008388.1:g.8008A>C;NM_001105541.1:c.78-293A>C;NM_005382.2:c.1206-293A>C 198936030 59128512 BUSHMAN-chr8-24830185 1.83e-02 2010.03.06 2010.03.06 2007.12.15 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24774281A>C;NG_008388.1:g.8008A>C;NM_001105541.1:c.78-293A>C;NM_005382.2:c.1206-293A>C 223608563 59128512 pilot_1_YRI_5418246_chr8_24830186 1.83e-02 2010.04.22 2010.04.22 2007.12.15 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24774361C>T;NG_008388.1:g.8088C>T;NM_001105541.1:c.78-213C>T;NM_005382.2:c.1206-213C>T 334760914 146761708 20100804_snps_6404455_chr8_24774361 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24774377G>A;NG_008388.1:g.8104G>A;NM_001105541.1:c.78-197G>A;NM_005382.2:c.1206-197G>A 460292231 183396294 20101123_snps_6459461_chr8_24774377 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24774421G>A;NG_008388.1:g.8148G>A;NM_001105541.1:c.78-153G>A;NM_005382.2:c.1206-153G>A 334760915 149128304 20100804_snps_6404456_chr8_24774421 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24774424A>T;NG_008388.1:g.8151A>T;NM_001105541.1:c.78-150A>T;NM_005382.2:c.1206-150A>T 334760916 142275787 20100804_snps_6404457_chr8_24774424 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 KWOK 4741 NC_000008.10:g.24774515A>G;NG_008388.1:g.8242A>G;NM_001105541.1:c.78-59A>G;NM_005382.2:c.1206-59A>G 259082 196866 OVLP-000621-98094 3.70e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 4741 NC_000008.10:g.24774515A>G;NG_008388.1:g.8242A>G;NM_001105541.1:c.78-59A>G;NM_005382.2:c.1206-59A>G 515047 196866 AF106564.1_26167 3.70e-03 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24774515A>G;NG_008388.1:g.8242A>G;NM_001105541.1:c.78-59A>G;NM_005382.2:c.1206-59A>G 1244660 196866 OVLP-000804-468142 3.70e-03 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24774515A>G;NG_008388.1:g.8242A>G;NM_001105541.1:c.78-59A>G;NM_005382.2:c.1206-59A>G 1942342 196866 OVLP-000925-47939 3.70e-03 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774515A>G;NG_008388.1:g.8242A>G;NM_001105541.1:c.78-59A>G;NM_005382.2:c.1206-59A>G 334760917 196866 20100804_snps_6404458_chr8_24774515 3.70e-03 2011.03.22 2011.03.22 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24774534A>G;NG_008388.1:g.8261A>G;NM_001105541.1:c.78-40A>G;NM_005382.2:c.1206-40A>G 259081 196865 OVLP-000621-98093 7.30e-03 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 4741 NC_000008.10:g.24774534A>G;NG_008388.1:g.8261A>G;NM_001105541.1:c.78-40A>G;NM_005382.2:c.1206-40A>G 515016 196865 AF106564.1_26148 7.30e-03 2000.07.12 2006.10.25 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24774534A>G;NG_008388.1:g.8261A>G;NM_001105541.1:c.78-40A>G;NM_005382.2:c.1206-40A>G 1244659 196865 OVLP-000804-468141 7.30e-03 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24774534A>G;NG_008388.1:g.8261A>G;NM_001105541.1:c.78-40A>G;NM_005382.2:c.1206-40A>G 1942341 196865 OVLP-000925-47938 7.30e-03 2000.10.06 2003.10.10 2000.07.12 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24774534A>G;NG_008388.1:g.8261A>G;NM_001105541.1:c.78-40A>G;NM_005382.2:c.1206-40A>G 198936034 196865 BUSHMAN-chr8-24830438 7.30e-03 2010.03.06 2010.03.06 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774534A>G;NG_008388.1:g.8261A>G;NM_001105541.1:c.78-40A>G;NM_005382.2:c.1206-40A>G 334760918 196865 20100804_snps_6404459_chr8_24774534 7.30e-03 2011.03.22 2011.03.22 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774534A>G;NG_008388.1:g.8261A>G;NM_001105541.1:c.78-40A>G;NM_005382.2:c.1206-40A>G 490962238 196865 20110521_exome_470036_chr8_24774534 7.30e-03 2012.02.21 2012.02.21 2000.07.12 2012.11.28 137 DEVINE_LAB 4741 NC_000008.10:g.24774617_24774618insG;NG_008388.1:g.8344_8345insG;NM_001105541.1:c.121_122insG;NM_005382.2:c.1249_1250insG;NP_001099011.1:p.Gly41delinsGlyLysfs;NP_005373.2:p.Gly417delinsGlyLysfs 101971754 72315496 INDEL_GP36_2008a_2323320_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 KWOK 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 259080 196864 OVLP-000621-98092 9.20e-02 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 528635 196864 AC021000.3_143889 9.20e-02 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 1244658 196864 OVLP-000804-468140 9.20e-02 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 1942340 196864 OVLP-000925-47937 9.20e-02 2000.10.06 2004.05.16 2000.07.12 2012.11.28 137 WI_SSAHASNP 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 14325577 196864 chr8.NT_023666.16_3148956 9.20e-02 2003.11.07 2003.11.22 2000.07.12 2012.11.28 137 CSHL-HAPMAP 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 19756797 196864 CSHL-HuDD-200402.chr8.NT_023666.16_3148956 9.20e-02 2004.02.21 2004.03.04 2000.07.12 2012.11.28 137 SSAHASNP 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 22685625 196864 WGSA-200403-chr8.chr8.NT_023666.16_3148956 9.20e-02 2004.03.21 2004.03.21 2000.07.12 2012.11.28 137 PERLEGEN 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 23809172 196864 afd4616687 9.20e-02 2004.08.20 2004.09.13 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 66555134 196864 HumanHap300v1.1_rs196864 9.20e-02 2006.11.09 2006.11.09 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 67211317 196864 HumanHap550v1.1_rs196864 9.20e-02 2006.11.14 2006.11.14 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 67604476 196864 HumanHap650Yv1.0_rs196864 9.20e-02 2006.11.14 2006.11.14 2000.07.12 2012.11.28 137 PERLEGEN 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 69044572 196864 PGP04616687 9.20e-02 2007.01.30 2007.08.14 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 70689575 196864 HumanHap550v3.0__rs196864 9.20e-02 2007.04.20 2008.03.30 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 71254347 196864 HumanHap650Yv3.0_rs196864 9.20e-02 2007.04.23 2007.04.23 2000.07.12 2012.11.28 137 AFFY 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 74809913 196864 SNP_M-183123 9.20e-02 2007.08.09 2007.08.09 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 75552179 196864 ILMN_Human_1M_rs196864 9.20e-02 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 SI_EXO 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 76895080 196864 NT_023666.17_3148956 9.20e-02 2007.09.20 2007.09.20 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 79104491 196864 HumanHap300v2.0_rs196864 9.20e-02 2007.11.18 2007.11.18 2000.07.12 2012.11.28 137 HGSV 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 80880442 196864 Cor18507_SNV_20070510.chr8_24830588 9.20e-02 2007.11.27 2007.11.27 2000.07.12 2012.11.28 137 KRIBB_YJKIM 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 83382411 196864 KHS448315 9.20e-02 2007.12.04 2007.12.04 2000.07.12 2012.11.28 137 CORNELL 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 86271866 196864 hCV796228 9.20e-02 2008.01.21 2010.09.29 2000.07.12 2012.11.28 137 BCMHGSC_JDW 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 93857106 196864 JWB-2442886 9.20e-02 2008.03.05 2008.03.05 2000.07.12 2012.11.28 137 BGI 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 105607109 196864 BGI_rs196864 9.20e-02 2008.09.11 2009.06.18 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 112921557 196864 CEU.trio.12.15.2008_1954319_chr8_24830588 9.20e-02 2008.12.18 2008.12.18 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 115152878 196864 NA19240_2008_12_16_1761997_chr8_24830588 9.20e-02 2008.12.19 2008.12.19 2000.07.12 2012.11.28 137 ILLUMINA-UK 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 115871314 196864 NA18507_000052751_NCBI36.1_chr8_24830588 9.20e-02 2009.01.16 2009.01.16 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 121868560 196864 HumanCNV370v1_C_rs196864 9.20e-02 2009.04.14 2009.04.14 2000.07.12 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 134447446 196864 ENSSNP2795158 9.20e-02 2009.05.13 2009.10.15 2000.07.12 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 143343161 196864 ENSSNP13445538 9.20e-02 2009.06.06 2009.06.06 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 153798281 196864 Human610_Quadv1_B_rs196864-128_T_R_1501698773 9.20e-02 2009.06.19 2009.06.19 2000.07.12 2012.11.28 137 GMI 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 156160999 196864 GMI_SNP_29441814 9.20e-02 2009.06.24 2009.06.24 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 159344746 196864 Human660W-Quad_v1_A_rs196864-128_T_R_1501698773 9.20e-02 2009.07.07 2009.07.07 2000.07.12 2012.11.28 137 SEATTLESEQ 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 159716680 196864 NEFM-24830588 9.20e-02 2009.07.10 2009.07.10 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 160482572 196864 HumanOmni1-Quad_v1-0_B_rs196864-128_T_R_1501698773 9.20e-02 2009.08.06 2009.10.02 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 162254771 196864 NA07022_36_chr8_24830588 9.20e-02 2009.09.29 2009.09.29 2000.07.12 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 166411016 196864 NA20431_36_chr8_24830588 9.20e-02 2009.09.30 2009.09.30 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 170914410 196864 HumanCNV370-Quadv3_C_rs196864-128_T_R_1501698773 9.20e-02 2009.10.01 2009.10.03 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 173016889 196864 Human1M-Duov3_B_rs196864-128_T_R_1501698773 9.20e-02 2009.10.02 2009.10.02 2000.07.12 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 198936039 196864 BUSHMAN-chr8-24830587 9.20e-02 2010.03.06 2010.03.06 2000.07.12 2012.11.28 137 BCM-HGSC-SUB 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 208533576 196864 BCM_CMT_1011-1647034 9.20e-02 2010.03.19 2010.03.19 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 223608564 196864 pilot_1_YRI_5418247_chr8_24830588 9.20e-02 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 234368639 196864 pilot_1_CEU_3973268_chr8_24830588 9.20e-02 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 241240018 196864 pilot_1_CHB+JPT_3125095_chr8_24830588 9.20e-02 2010.05.01 2010.05.01 2000.07.12 2012.11.28 137 BL 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 254198135 196864 SNP45660_8_24830588 9.20e-02 2010.08.19 2010.08.19 2000.07.12 2012.11.28 137 GMI 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 279738881 196864 GMI_AK_SNP_4059134 9.20e-02 2010.12.16 2010.12.16 2000.07.12 2012.11.28 137 PJP 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 294241694 196864 SNP_3748052_chr8_24830588 9.20e-02 2011.01.21 2011.01.21 2000.07.12 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 342255180 196864 ESP2500-chr8-24774683 9.20e-02 2011.03.26 2011.03.26 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 480362843 196864 HumanOmni2.5-4v1_B_rs196864-128_T_R_1771812839 9.20e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 480374955 196864 HumanOmniExpress-12v1_C_rs196864-131_T_R_1857069259 9.20e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 481145669 196864 HumanOmni1-Quad_v1-0_C_rs196864-131_T_R_1865415017 9.20e-02 2012.01.31 2012.01.31 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 484979002 196864 HumanOmni2.5-4v1_D_rs196864-131_T_R_1857069259 9.20e-02 2012.02.04 2012.02.04 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 490962239 196864 20110521_exome_470037_chr8_24774683 9.20e-02 2012.02.21 2012.02.21 2000.07.12 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 491411651 196864 nonsyn_127877_chr_8_24774683 9.20e-02 2012.03.05 2012.03.05 2000.07.12 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24774683C>A;NG_008388.1:g.8410C>A;NM_001105541.1:c.187C>A;NM_005382.2:c.1315C>A;NP_001099011.1:p.Pro63Thr;NP_005373.2:p.Pro439Thr 491922840 196864 SNV-chr8-24830588 9.20e-02 2012.03.07 2012.03.13 2000.07.12 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24774727C>T;NG_008388.1:g.8454C>T;NM_001105541.1:c.231C>T;NM_005382.2:c.1359C>T;NP_001099011.1:p.Val77=;NP_005373.2:p.Val453= 342255181 138095996 ESP2500-chr8-24774727 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24774783delC;NG_008388.1:g.8510delC;NM_001105541.1:c.287delC;NM_005382.2:c.1415delC;NP_001099011.1:p.Ala96=fs;NP_005373.2:p.Ala472=fs 100268633 66513187 INDEL_GP36_2008a_2323314_0 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 DEVINE_LAB 4741 NC_000008.10:g.24774783delC;NG_008388.1:g.8510delC;NM_001105541.1:c.287delC;NM_005382.2:c.1415delC;NP_001099011.1:p.Ala96=fs;NP_005373.2:p.Ala472=fs 100268635 66513187 INDEL_GP36_2008a_2323314_1 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 ILLUMINA 4741 NC_000008.10:g.24774788A>G;NG_008388.1:g.8515A>G;NM_001105541.1:c.292A>G;NM_005382.2:c.1420A>G;NP_001099011.1:p.Thr98Ala;NP_005373.2:p.Thr474Ala 482146536 59853292 HumanOmni2.5-4v1_D_kgp20450600-0_B_R_1835790145 untested 2012.02.01 2012.02.01 2007.12.15 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24774788A>G;NG_008388.1:g.8515A>G;NM_001105541.1:c.292A>G;NM_005382.2:c.1420A>G;NP_001099011.1:p.Thr98Ala;NP_005373.2:p.Thr474Ala 485593914 59853292 HumanOmni2.5-4v1_B_SNP8-24830693-0_B_R_1647362776 untested 2012.02.05 2012.02.05 2007.12.15 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.1420A>G NC_000008.10:g.24774788A>G;NG_008388.1:g.8515A>G;NM_001105541.1:c.292A>G;NM_005382.2:c.1420A>G;NP_001099011.1:p.Thr98Ala;NP_005373.2:p.Thr474Ala 538292907 59853292 NEF3:c.1420A>G untested 2012.07.31 2012.07.31 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774791G>A;NG_008388.1:g.8518G>A;NM_001105541.1:c.295G>A;NM_005382.2:c.1423G>A;NP_001099011.1:p.Ala99Thr;NP_005373.2:p.Ala475Thr 334760919 61528354 20100804_snps_6404460_chr8_24774791 4.10e-03 untested 2011.03.22 2011.03.22 2007.12.16 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24774791G>A;NG_008388.1:g.8518G>A;NM_001105541.1:c.295G>A;NM_005382.2:c.1423G>A;NP_001099011.1:p.Ala99Thr;NP_005373.2:p.Ala475Thr 342255182 61528354 ESP2500-chr8-24774791 4.10e-03 untested 2011.03.26 2011.03.26 2007.12.16 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24774791G>A;NG_008388.1:g.8518G>A;NM_001105541.1:c.295G>A;NM_005382.2:c.1423G>A;NP_001099011.1:p.Ala99Thr;NP_005373.2:p.Ala475Thr 490962240 61528354 20110521_exome_470038_chr8_24774791 4.10e-03 untested 2012.02.21 2012.02.21 2007.12.16 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24774791G>A;NG_008388.1:g.8518G>A;NM_001105541.1:c.295G>A;NM_005382.2:c.1423G>A;NP_001099011.1:p.Ala99Thr;NP_005373.2:p.Ala475Thr 491411652 61528354 nonsyn_127878_chr_8_24774791 4.10e-03 untested 2012.03.05 2012.03.05 2007.12.16 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24774791G>A;NG_008388.1:g.8518G>A;NM_001105541.1:c.295G>A;NM_005382.2:c.1423G>A;NP_001099011.1:p.Ala99Thr;NP_005373.2:p.Ala475Thr 491922841 61528354 SNV-chr8-24830696 4.10e-03 untested 2012.03.07 2012.03.13 2007.12.16 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.1423G>A NC_000008.10:g.24774791G>A;NG_008388.1:g.8518G>A;NM_001105541.1:c.295G>A;NM_005382.2:c.1423G>A;NP_001099011.1:p.Ala99Thr;NP_005373.2:p.Ala475Thr 538292487 61528354 NEF3:c.1423G>A 4.10e-03 untested 2012.07.31 2012.07.31 2007.12.16 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24774792C>G;NG_008388.1:g.8519C>G;NM_001105541.1:c.296C>G;NM_005382.2:c.1424C>G;NP_001099011.1:p.Ala99Gly;NP_005373.2:p.Ala475Gly 491922842 201159166 SNV-chr8-24830697 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24774793C>T;NG_008388.1:g.8520C>T;NM_001105541.1:c.297C>T;NM_005382.2:c.1425C>T;NP_001099011.1:p.Ala99=;NP_005373.2:p.Ala475= 198936042 113253008 BUSHMAN-chr8-24830697 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 NHLBI-ESP 4741 NC_000008.10:g.24774806T>C;NG_008388.1:g.8533T>C;NM_001105541.1:c.310T>C;NM_005382.2:c.1438T>C;NP_001099011.1:p.Leu104=;NP_005373.2:p.Leu480= 342255183 146002490 ESP2500-chr8-24774806 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CORNELL 4741 NC_000008.10:g.24774812G>A;NG_008388.1:g.8539G>A;NM_001105541.1:c.316G>A;NM_005382.2:c.1444G>A;NP_001099011.1:p.Val106Ile;NP_005373.2:p.Val482Ile 86257834 61751047 hCV25921878 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24774812G>A;NG_008388.1:g.8539G>A;NM_001105541.1:c.316G>A;NM_005382.2:c.1444G>A;NP_001099011.1:p.Val106Ile;NP_005373.2:p.Val482Ile 342255184 61751047 ESP2500-chr8-24774812 2011.03.26 2011.03.26 2008.03.23 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24774812G>A;NG_008388.1:g.8539G>A;NM_001105541.1:c.316G>A;NM_005382.2:c.1444G>A;NP_001099011.1:p.Val106Ile;NP_005373.2:p.Val482Ile 491411653 61751047 nonsyn_127879_chr_8_24774812 2012.03.05 2012.03.05 2008.03.23 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24774812G>A;NG_008388.1:g.8539G>A;NM_001105541.1:c.316G>A;NM_005382.2:c.1444G>A;NP_001099011.1:p.Val106Ile;NP_005373.2:p.Val482Ile 491922843 61751047 SNV-chr8-24830717 2012.03.07 2012.03.13 2008.03.23 2012.11.28 137 LEE 4741 NC_000008.10:g.24774813T>C;NG_008388.1:g.8540T>C;NM_001105541.1:c.317T>C;NM_005382.2:c.1445T>C;NP_001099011.1:p.Val106Ala;NP_005373.2:p.Val482Ala 1550357 1063314 1158220 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 SEQUENOM 4741 NC_000008.10:g.24774813T>C;NG_008388.1:g.8540T>C;NM_001105541.1:c.317T>C;NM_005382.2:c.1445T>C;NP_001099011.1:p.Val106Ala;NP_005373.2:p.Val482Ala 24796362 1063314 sqnm139617 2004.06.18 2004.06.18 2000.10.05 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24774818A>G;NG_008388.1:g.8545A>G;NM_001105541.1:c.322A>G;NM_005382.2:c.1450A>G;NP_001099011.1:p.Met108Val;NP_005373.2:p.Met484Val 491922844 200369309 SNV-chr8-24830723 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24774824G>A;NG_008388.1:g.8551G>A;NM_001105541.1:c.328G>A;NM_005382.2:c.1456G>A;NP_001099011.1:p.Glu110Lys;NP_005373.2:p.Glu486Lys 342255185 141741305 ESP2500-chr8-24774824 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24774869G>C;NG_008388.1:g.8596G>C;NM_001105541.1:c.373G>C;NM_005382.2:c.1501G>C;NP_001099011.1:p.Ala125Pro;NP_005373.2:p.Ala501Pro 342255186 146221504 ESP2500-chr8-24774869 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24774869G>C;NG_008388.1:g.8596G>C;NM_001105541.1:c.373G>C;NM_005382.2:c.1501G>C;NP_001099011.1:p.Ala125Pro;NP_005373.2:p.Ala501Pro 491411654 146221504 nonsyn_127880_chr_8_24774869 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24774873A>C;NG_008388.1:g.8600A>C;NM_001105541.1:c.377A>C;NM_005382.2:c.1505A>C;NP_001099011.1:p.Glu126Ala;NP_005373.2:p.Glu502Ala 342255187 148424557 ESP2500-chr8-24774873 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24774959G>A;NG_008388.1:g.8686G>A;NM_001105541.1:c.463G>A;NM_005382.2:c.1591G>A;NP_001099011.1:p.Glu155Lys;NP_005373.2:p.Glu531Lys 334760920 138461187 20100804_snps_6404461_chr8_24774959 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 4741 NC_000008.10:g.24775034G>A;NG_008388.1:g.8761G>A;NM_001105541.1:c.538G>A;NM_005382.2:c.1666G>A;NP_001099011.1:p.Glu180Lys;NP_005373.2:p.Glu556Lys 342255188 142517537 ESP2500-chr8-24775034 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775039C>A;NG_008388.1:g.8766C>A;NM_001105541.1:c.543C>A;NM_005382.2:c.1671C>A;NP_001099011.1:p.Gly181=;NP_005373.2:p.Gly557= 342255189 150923227 ESP2500-chr8-24775039 1.40e-03 2011.03.26 2011.03.26 2011.05.09 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24775039C>A;NG_008388.1:g.8766C>A;NM_001105541.1:c.543C>A;NM_005382.2:c.1671C>A;NP_001099011.1:p.Gly181=;NP_005373.2:p.Gly557= 460292232 150923227 20101123_snps_6459462_chr8_24775039 1.40e-03 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 ILLUMINA 4741 NC_000008.10:g.24775041C>T;NG_008388.1:g.8768C>T;NM_001105541.1:c.545C>T;NM_005382.2:c.1673C>T;NP_001099011.1:p.Ser182Phe;NP_005373.2:p.Ser558Phe 75316196 56178433 ILMN_Human_1M_cnv12001p1 2007.08.29 2007.08.29 2007.12.07 2011.09.09 137 ILLUMINA 4741 NC_000008.10:g.24775041C>T;NG_008388.1:g.8768C>T;NM_001105541.1:c.545C>T;NM_005382.2:c.1673C>T;NP_001099011.1:p.Ser182Phe;NP_005373.2:p.Ser558Phe 123436154 56178433 HumanCNV370v1_C_cnv12001p1 2009.04.15 2009.04.15 2007.12.07 2011.09.09 137 ILLUMINA 4741 NC_000008.10:g.24775041C>T;NG_008388.1:g.8768C>T;NM_001105541.1:c.545C>T;NM_005382.2:c.1673C>T;NP_001099011.1:p.Ser182Phe;NP_005373.2:p.Ser558Phe 168899339 56178433 HumanCNV370-Quadv3_C_cnvi0001687-126_B_F_1514266245 2009.10.01 2009.10.02 2007.12.07 2011.09.09 137 ILLUMINA 4741 NC_000008.10:g.24775041C>T;NG_008388.1:g.8768C>T;NM_001105541.1:c.545C>T;NM_005382.2:c.1673C>T;NP_001099011.1:p.Ser182Phe;NP_005373.2:p.Ser558Phe 169160331 56178433 Human1M-Duov3_B_cnvi0001687-126_B_F_1514266245 2009.10.01 2009.10.01 2007.12.07 2011.09.09 137 NHLBI-ESP 4741 NC_000008.10:g.24775065A>C;NG_008388.1:g.8792A>C;NM_001105541.1:c.569A>C;NM_005382.2:c.1697A>C;NP_001099011.1:p.Gln190Pro;NP_005373.2:p.Gln566Pro 342255190 139993488 ESP2500-chr8-24775065 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24775108C>T;NG_008388.1:g.8835C>T;NM_001105541.1:c.612C>T;NM_005382.2:c.1740C>T;NP_001099011.1:p.Ala204=;NP_005373.2:p.Ala580= 334760921 142559780 20100804_snps_6404462_chr8_24775108 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775108C>T;NG_008388.1:g.8835C>T;NM_001105541.1:c.612C>T;NM_005382.2:c.1740C>T;NP_001099011.1:p.Ala204=;NP_005373.2:p.Ala580= 342255191 142559780 ESP2500-chr8-24775108 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24775134A>G;NG_008388.1:g.8861A>G;NM_001105541.1:c.638A>G;NM_005382.2:c.1766A>G;NP_001099011.1:p.Glu213Gly;NP_005373.2:p.Glu589Gly 488885391 201252926 20110521_exome_117803_chr8_24775134 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24775145G>A;NG_008388.1:g.8872G>A;NM_001105541.1:c.649G>A;NM_005382.2:c.1777G>A;NP_001099011.1:p.Glu217Lys;NP_005373.2:p.Glu593Lys 491922845 201212373 SNV-chr8-24831050 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775155C>A;NG_008388.1:g.8882C>A;NM_001105541.1:c.659C>A;NM_005382.2:c.1787C>A;NP_001099011.1:p.Ala220Asp;NP_005373.2:p.Ala596Asp 334760922 146894728 20100804_snps_6404463_chr8_24775155 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775155C>A;NG_008388.1:g.8882C>A;NM_001105541.1:c.659C>A;NM_005382.2:c.1787C>A;NP_001099011.1:p.Ala220Asp;NP_005373.2:p.Ala596Asp 342255192 146894728 ESP2500-chr8-24775155 2.70e-03 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775155C>A;NG_008388.1:g.8882C>A;NM_001105541.1:c.659C>A;NM_005382.2:c.1787C>A;NP_001099011.1:p.Ala220Asp;NP_005373.2:p.Ala596Asp 490962241 146894728 20110521_exome_470039_chr8_24775155 2.70e-03 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775155C>A;NG_008388.1:g.8882C>A;NM_001105541.1:c.659C>A;NM_005382.2:c.1787C>A;NP_001099011.1:p.Ala220Asp;NP_005373.2:p.Ala596Asp 491411655 146894728 nonsyn_127881_chr_8_24775155 2.70e-03 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775213T>C;NG_008388.1:g.8940T>C;NM_001105541.1:c.717T>C;NM_005382.2:c.1845T>C;NP_001099011.1:p.Ser239=;NP_005373.2:p.Ser615= 342255193 141803581 ESP2500-chr8-24775213 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775215C>T;NG_008388.1:g.8942C>T;NM_001105541.1:c.719C>T;NM_005382.2:c.1847C>T;NP_001099011.1:p.Pro240Leu;NP_005373.2:p.Pro616Leu 342255194 147082995 ESP2500-chr8-24775215 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24775215C>T;NG_008388.1:g.8942C>T;NM_001105541.1:c.719C>T;NM_005382.2:c.1847C>T;NP_001099011.1:p.Pro240Leu;NP_005373.2:p.Pro616Leu 460292233 147082995 20101123_snps_6459463_chr8_24775215 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24775232G>A;NG_008388.1:g.8959G>A;NM_001105541.1:c.736G>A;NM_005382.2:c.1864G>A;NP_001099011.1:p.Val246Met;NP_005373.2:p.Val622Met 460292234 185179779 20101123_snps_6459464_chr8_24775232 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 4741 NC_000008.10:g.24775290C>T;NG_008388.1:g.9017C>T;NM_001105541.1:c.794C>T;NM_005382.2:c.1922C>T;NP_001099011.1:p.Ser265Phe;NP_005373.2:p.Ser641Phe 342255195 145277681 ESP2500-chr8-24775290 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 EXOME_CHIP 4741 NC_000008.10:g.24775362G>C;NG_008388.1:g.9089G>C;NM_001105541.1:c.866G>C;NM_005382.2:c.1994G>C;NP_001099011.1:p.Gly289Ala;NP_005373.2:p.Gly665Ala 491411656 200556143 nonsyn_127882_chr_8_24775362 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 EXOME_CHIP 4741 NC_000008.10:g.24775376T>C;NG_008388.1:g.9103T>C;NM_001105541.1:c.880T>C;NM_005382.2:c.2008T>C;NP_001099011.1:p.Ser294Pro;NP_005373.2:p.Ser670Pro 491411657 201305028 nonsyn_127883_chr_8_24775376 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 4741 NC_000008.10:g.24775405A>G;NG_008388.1:g.9132A>G;NM_001105541.1:c.909A>G;NM_005382.2:c.2037A>G;NP_001099011.1:p.Lys303=;NP_005373.2:p.Lys679= 342255196 149155920 ESP2500-chr8-24775405 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 CORNELL 4741 NC_000008.10:g.24775457G>C;NG_008388.1:g.9184G>C;NM_001105541.1:c.961G>C;NM_005382.2:c.2089G>C;NP_001099011.1:p.Gly321Arg;NP_005373.2:p.Gly697Arg 86250098 59726684 hCV25643322 5.00e-03 untested 2008.01.21 2010.09.29 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775457G>C;NG_008388.1:g.9184G>C;NM_001105541.1:c.961G>C;NM_005382.2:c.2089G>C;NP_001099011.1:p.Gly321Arg;NP_005373.2:p.Gly697Arg 334760923 59726684 20100804_snps_6404464_chr8_24775457 5.00e-03 untested 2011.03.22 2011.03.22 2007.12.15 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775457G>C;NG_008388.1:g.9184G>C;NM_001105541.1:c.961G>C;NM_005382.2:c.2089G>C;NP_001099011.1:p.Gly321Arg;NP_005373.2:p.Gly697Arg 342255197 59726684 ESP2500-chr8-24775457 5.00e-03 untested 2011.03.26 2011.03.26 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775457G>C;NG_008388.1:g.9184G>C;NM_001105541.1:c.961G>C;NM_005382.2:c.2089G>C;NP_001099011.1:p.Gly321Arg;NP_005373.2:p.Gly697Arg 490962242 59726684 20110521_exome_470040_chr8_24775457 5.00e-03 untested 2012.02.21 2012.02.21 2007.12.15 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775457G>C;NG_008388.1:g.9184G>C;NM_001105541.1:c.961G>C;NM_005382.2:c.2089G>C;NP_001099011.1:p.Gly321Arg;NP_005373.2:p.Gly697Arg 491411658 59726684 nonsyn_127884_chr_8_24775457 5.00e-03 untested 2012.03.05 2012.03.05 2007.12.15 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.2089G>C NC_000008.10:g.24775457G>C;NG_008388.1:g.9184G>C;NM_001105541.1:c.961G>C;NM_005382.2:c.2089G>C;NP_001099011.1:p.Gly321Arg;NP_005373.2:p.Gly697Arg 538292488 59726684 NEF3:c.2089G>C 5.00e-03 untested 2012.07.31 2012.07.31 2007.12.15 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775477G>T;NG_008388.1:g.9204G>T;NM_001105541.1:c.981G>T;NM_005382.2:c.2109G>T;NP_001099011.1:p.Glu327Asp;NP_005373.2:p.Glu703Asp 342255198 148288445 ESP2500-chr8-24775477 9.00e-04 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775477G>T;NG_008388.1:g.9204G>T;NM_001105541.1:c.981G>T;NM_005382.2:c.2109G>T;NP_001099011.1:p.Glu327Asp;NP_005373.2:p.Glu703Asp 460292235 148288445 20101123_snps_6459465_chr8_24775477 9.00e-04 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775477G>T;NG_008388.1:g.9204G>T;NM_001105541.1:c.981G>T;NM_005382.2:c.2109G>T;NP_001099011.1:p.Glu327Asp;NP_005373.2:p.Glu703Asp 490962243 148288445 20110521_exome_470041_chr8_24775477 9.00e-04 2012.02.21 2012.02.21 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775477G>T;NG_008388.1:g.9204G>T;NM_001105541.1:c.981G>T;NM_005382.2:c.2109G>T;NP_001099011.1:p.Glu327Asp;NP_005373.2:p.Glu703Asp 491411659 148288445 nonsyn_127885_chr_8_24775477 9.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775515A>G;NG_008388.1:g.9242A>G;NM_001105541.1:c.1019A>G;NM_005382.2:c.2147A>G;NP_001099011.1:p.Glu340Gly;NP_005373.2:p.Glu716Gly 491411660 201520929 nonsyn_127886_chr_8_24775515 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 4741 NC_000008.10:g.24775521T>C;NG_008388.1:g.9248T>C;NM_001105541.1:c.1025T>C;NM_005382.2:c.2153T>C;NP_001099011.1:p.Val342Ala;NP_005373.2:p.Val718Ala 342255199 57810298 ESP2500-chr8-24775521 untested 2011.03.26 2011.03.26 2007.12.15 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775521T>C;NG_008388.1:g.9248T>C;NM_001105541.1:c.1025T>C;NM_005382.2:c.2153T>C;NP_001099011.1:p.Val342Ala;NP_005373.2:p.Val718Ala 491411661 57810298 nonsyn_127887_chr_8_24775521 untested 2012.03.05 2012.03.05 2007.12.15 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.2153T>C NC_000008.10:g.24775521T>C;NG_008388.1:g.9248T>C;NM_001105541.1:c.1025T>C;NM_005382.2:c.2153T>C;NP_001099011.1:p.Val342Ala;NP_005373.2:p.Val718Ala 538292491 57810298 NEF3:c.2153T>C untested 2012.07.31 2012.07.31 2007.12.15 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775530A>G;NG_008388.1:g.9257A>G;NM_001105541.1:c.1034A>G;NM_005382.2:c.2162A>G;NP_001099011.1:p.Lys345Arg;NP_005373.2:p.Lys721Arg 241240019 117060932 pilot_1_CHB+JPT_3125096_chr8_24831435 5.50e-03 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 KWOK 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 259079 196863 OVLP-000621-98091 6.00e-03 untested 2000.06.30 2003.10.10 2000.07.12 2012.11.28 137 SC_JCM 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 602120 196863 AC021000.3_143030 6.00e-03 untested 2000.07.12 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 1244657 196863 OVLP-000804-468139 6.00e-03 untested 2000.09.02 2003.10.10 2000.07.12 2012.11.28 137 KWOK 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 1942339 196863 OVLP-000925-47936 6.00e-03 untested 2000.10.06 2007.08.14 2000.07.12 2012.11.28 137 AFFY 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 74819959 196863 SNP_M-322104 6.00e-03 untested 2007.08.09 2007.08.09 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 74892716 196863 ILMN_Human_1M_rs196863 6.00e-03 untested 2007.08.29 2007.08.29 2000.07.12 2012.11.28 137 KRIBB_YJKIM 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 119343667 196863 KHS1505914 6.00e-03 untested 2009.02.04 2009.02.04 2000.07.12 2012.11.28 137 SEATTLESEQ 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 159716681 196863 NEFM-24831447 6.00e-03 untested 2009.07.10 2009.07.10 2000.07.12 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 173016885 196863 Human1M-Duov3_B_rs196863-128_T_R_1513893582 6.00e-03 untested 2009.10.02 2009.10.02 2000.07.12 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 223608565 196863 pilot_1_YRI_5418248_chr8_24831447 6.00e-03 untested 2010.04.22 2010.04.22 2000.07.12 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 342255200 196863 ESP2500-chr8-24775542 6.00e-03 untested 2011.03.26 2011.03.26 2000.07.12 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 491411662 196863 nonsyn_127888_chr_8_24775542 6.00e-03 untested 2012.03.05 2012.03.05 2000.07.12 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.2174C>A NC_000008.10:g.24775542C>A;NG_008388.1:g.9269C>A;NM_001105541.1:c.1046C>A;NM_005382.2:c.2174C>A;NP_001099011.1:p.Pro349Gln;NP_005373.2:p.Pro725Gln 538292909 196863 NEF3:c.2174C>A 6.00e-03 untested 2012.07.31 2012.07.31 2000.07.12 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.2263G>T NC_000008.10:g.24775631G>T;NG_008388.1:g.9358G>T;NM_001105541.1:c.1135G>T;NM_005382.2:c.2263G>T;NP_001099011.1:p.Val379Leu;NP_005373.2:p.Val755Leu 538292489 57294395 NEF3:c.2263G>T untested 2012.07.31 2012.07.31 2007.12.14 2012.10.31 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24775698C>A;NG_008388.1:g.9425C>A;NM_001105541.1:c.1202C>A;NM_005382.2:c.2330C>A;NP_001099011.1:p.Ala401Glu;NP_005373.2:p.Ala777Glu 166411027 112979069 NA20431_36_chr8_24831603 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 SI_EXO 4741 NC_000008.10:g.24775699G>A;NG_008388.1:g.9426G>A;NM_001105541.1:c.1203G>A;NM_005382.2:c.2331G>A;NP_001099011.1:p.Ala401=;NP_005373.2:p.Ala777= 52062997 41276283 NT_023666.17_3149972 2006.03.29 2006.03.29 2006.10.18 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775699G>A;NG_008388.1:g.9426G>A;NM_001105541.1:c.1203G>A;NM_005382.2:c.2331G>A;NP_001099011.1:p.Ala401=;NP_005373.2:p.Ala777= 342255201 41276283 ESP2500-chr8-24775699 2011.03.26 2011.03.26 2006.10.18 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775706G>A;NG_008388.1:g.9433G>A;NM_001105541.1:c.1210G>A;NM_005382.2:c.2338G>A;NP_001099011.1:p.Glu404Lys;NP_005373.2:p.Glu780Lys 342255202 141781481 ESP2500-chr8-24775706 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24775766A>C;NG_008388.1:g.9493A>C;NM_001105541.1:c.1270A>C;NM_005382.2:c.2398A>C;NP_001099011.1:p.Ile424Leu;NP_005373.2:p.Ile800Leu 460292236 191946006 20101123_snps_6459466_chr8_24775766 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 4741 NC_000008.10:g.24775793A>G;NG_008388.1:g.9520A>G;NM_001105541.1:c.1297A>G;NM_005382.2:c.2425A>G;NP_001099011.1:p.Lys433Glu;NP_005373.2:p.Lys809Glu 342255203 150761894 ESP2500-chr8-24775793 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 BUSHMAN 4741 NC_000008.10:g.24775795A>G;NG_008388.1:g.9522A>G;NM_001105541.1:c.1299A>G;NM_005382.2:c.2427A>G;NP_001099011.1:p.Lys433=;NP_005373.2:p.Lys809= 198936046 111947575 BUSHMAN-chr8-24831699 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24775816C>T;NG_008388.1:g.9543C>T;NM_001105541.1:c.1320C>T;NM_005382.2:c.2448C>T;NP_001099011.1:p.Thr440=;NP_005373.2:p.Thr816= 460292237 183707930 20101123_snps_6459467_chr8_24775816 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775816C>T;NG_008388.1:g.9543C>T;NM_001105541.1:c.1320C>T;NM_005382.2:c.2448C>T;NP_001099011.1:p.Thr440=;NP_005373.2:p.Thr816= 490962244 183707930 20110521_exome_470042_chr8_24775816 9.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775819G>A;NG_008388.1:g.9546G>A;NM_001105541.1:c.1323G>A;NM_005382.2:c.2451G>A;NP_001099011.1:p.Lys441=;NP_005373.2:p.Lys817= 342255204 139103309 ESP2500-chr8-24775819 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775846G>C;NG_008388.1:g.9573G>C;NM_001105541.1:c.1350G>C;NM_005382.2:c.2478G>C;NP_001099011.1:p.Glu450Asp;NP_005373.2:p.Glu826Asp 342255205 149472437 ESP2500-chr8-24775846 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.2485_2487delGTT ARRAY(0x1c4c7c00) 538292910 58277456 NEF3:c.2485_2487delGTT untested 2012.07.31 2012.07.31 2007.12.15 2012.10.31 137 1000GENOMES 4741 NC_000008.10:g.24775902G>T;NG_008388.1:g.9629G>T;NM_001105541.1:c.1406G>T;NM_005382.2:c.2534G>T;NP_001099011.1:p.Gly469Val;NP_005373.2:p.Gly845Val 460292238 188421098 20101123_snps_6459468_chr8_24775902 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 4741 NC_000008.10:g.24775903T>A;NG_008388.1:g.9630T>A;NM_001105541.1:c.1407T>A;NM_005382.2:c.2535T>A;NP_001099011.1:p.Gly469=;NP_005373.2:p.Gly845= 342255206 143878463 ESP2500-chr8-24775903 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775940G>A;NG_008388.1:g.9667G>A;NM_001105541.1:c.1444G>A;NM_005382.2:c.2572G>A;NP_001099011.1:p.Val482Ile;NP_005373.2:p.Val858Ile 342255207 57658073 ESP2500-chr8-24775940 9.00e-04 untested 2011.03.26 2011.03.26 2007.12.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775940G>A;NG_008388.1:g.9667G>A;NM_001105541.1:c.1444G>A;NM_005382.2:c.2572G>A;NP_001099011.1:p.Val482Ile;NP_005373.2:p.Val858Ile 460292239 57658073 20101123_snps_6459469_chr8_24775940 9.00e-04 untested 2011.07.20 2011.07.20 2007.12.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775940G>A;NG_008388.1:g.9667G>A;NM_001105541.1:c.1444G>A;NM_005382.2:c.2572G>A;NP_001099011.1:p.Val482Ile;NP_005373.2:p.Val858Ile 490962245 57658073 20110521_exome_470043_chr8_24775940 9.00e-04 untested 2012.02.21 2012.02.21 2007.12.14 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775940G>A;NG_008388.1:g.9667G>A;NM_001105541.1:c.1444G>A;NM_005382.2:c.2572G>A;NP_001099011.1:p.Val482Ile;NP_005373.2:p.Val858Ile 491411663 57658073 nonsyn_127889_chr_8_24775940 9.00e-04 untested 2012.03.05 2012.03.05 2007.12.14 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24775940G>A;NG_008388.1:g.9667G>A;NM_001105541.1:c.1444G>A;NM_005382.2:c.2572G>A;NP_001099011.1:p.Val482Ile;NP_005373.2:p.Val858Ile 491922846 57658073 SNV-chr8-24831845 9.00e-04 untested 2012.03.07 2012.03.13 2007.12.14 2012.11.28 137 HIFD-CURATED-RECORDS 4741 NM_005382.2:c.2572G>A NC_000008.10:g.24775940G>A;NG_008388.1:g.9667G>A;NM_001105541.1:c.1444G>A;NM_005382.2:c.2572G>A;NP_001099011.1:p.Val482Ile;NP_005373.2:p.Val858Ile 538292490 57658073 NEF3:c.2572G>A 9.00e-04 untested 2012.07.31 2012.07.31 2007.12.14 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775962G>C;NG_008388.1:g.9689G>C;NM_001105541.1:c.1466G>C;NM_005382.2:c.2594G>C;NP_001099011.1:p.Gly489Ala;NP_005373.2:p.Gly865Ala 342255208 144200733 ESP2500-chr8-24775962 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775962G>C;NG_008388.1:g.9689G>C;NM_001105541.1:c.1466G>C;NM_005382.2:c.2594G>C;NP_001099011.1:p.Gly489Ala;NP_005373.2:p.Gly865Ala 491411664 144200733 nonsyn_127890_chr_8_24775962 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775963G>A;NG_008388.1:g.9690G>A;NM_001105541.1:c.1467G>A;NM_005382.2:c.2595G>A;NP_001099011.1:p.Gly489=;NP_005373.2:p.Gly865= 342255209 147964775 ESP2500-chr8-24775963 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24775965G>A;NG_008388.1:g.9692G>A;NM_001105541.1:c.1469G>A;NM_005382.2:c.2597G>A;NP_001099011.1:p.Gly490Glu;NP_005373.2:p.Gly866Glu 342255210 140175409 ESP2500-chr8-24775965 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24775965G>A;NG_008388.1:g.9692G>A;NM_001105541.1:c.1469G>A;NM_005382.2:c.2597G>A;NP_001099011.1:p.Gly490Glu;NP_005373.2:p.Gly866Glu 491411665 140175409 nonsyn_127891_chr_8_24775965 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24775980A>G;NG_008388.1:g.9707A>G;NM_001105541.1:c.1484A>G;NM_005382.2:c.2612A>G;NP_001099011.1:p.Lys495Arg;NP_005373.2:p.Lys871Arg 342255211 145571992 ESP2500-chr8-24775980 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24775987C>G;NG_008388.1:g.9714C>G;NM_001105541.1:c.1491C>G;NM_005382.2:c.2619C>G;NP_001099011.1:p.Ile497Met;NP_005373.2:p.Ile873Met 488885393 200419471 20110521_exome_117804_chr8_24775987 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 4741 NC_000008.10:g.24775987C>G;NG_008388.1:g.9714C>G;NM_001105541.1:c.1491C>G;NM_005382.2:c.2619C>G;NP_001099011.1:p.Ile497Met;NP_005373.2:p.Ile873Met 491922847 200419471 SNV-chr8-24831892 0 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24775991A>G;NG_008388.1:g.9718A>G;NM_001105541.1:c.1495A>G;NM_005382.2:c.2623A>G;NP_001099011.1:p.Lys499Glu;NP_005373.2:p.Lys875Glu 488885395 199870416 20110521_exome_117805_chr8_24775991 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24776002C>T;NG_008388.1:g.9729C>T;NM_001105541.1:c.1506C>T;NM_005382.2:c.2634C>T;NP_001099011.1:p.Thr502=;NP_005373.2:p.Thr878= 342255212 151082365 ESP2500-chr8-24776002 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 NHLBI-ESP 4741 NC_000008.10:g.24776003G>A;NG_008388.1:g.9730G>A;NM_001105541.1:c.1507G>A;NM_005382.2:c.2635G>A;NP_001099011.1:p.Val503Ile;NP_005373.2:p.Val879Ile 342255213 140995374 ESP2500-chr8-24776003 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 1000GENOMES 4741 NC_000008.10:g.24776016T>C;NG_008388.1:g.9743T>C;NM_001105541.1:c.1520T>C;NM_005382.2:c.2648T>C;NP_001099011.1:p.Val507Ala;NP_005373.2:p.Val883Ala 460292240 185587224 20101123_snps_6459470_chr8_24776016 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776016T>C;NG_008388.1:g.9743T>C;NM_001105541.1:c.1520T>C;NM_005382.2:c.2648T>C;NP_001099011.1:p.Val507Ala;NP_005373.2:p.Val883Ala 490962246 185587224 20110521_exome_470044_chr8_24776016 5.00e-04 2012.02.21 2012.02.21 2011.09.17 2012.11.28 137 NHLBI-ESP 4741 NC_000008.10:g.24776021G>A;NG_008388.1:g.9748G>A;NM_001105541.1:c.1525G>A;NM_005382.2:c.2653G>A;NP_001099011.1:p.Glu509Lys;NP_005373.2:p.Glu885Lys 342255214 150229714 ESP2500-chr8-24776021 2011.03.26 2011.03.26 2011.05.09 2011.07.08 137 BUSHMAN 4741 NC_000008.10:g.24776043A>G;NG_008388.1:g.9770A>G;NM_001105541.1:c.1547A>G;NM_005382.2:c.2675A>G;NP_001099011.1:p.Glu516Gly;NP_005373.2:p.Glu892Gly 198936051 111429784 BUSHMAN-chr8-24831947 2010.03.06 2010.03.06 2010.07.04 2011.09.09 137 NHLBI-ESP 4741 NC_000008.10:g.24776071A>C;NG_008388.1:g.9798A>C;NM_001105541.1:c.1575A>C;NM_005382.2:c.2703A>C;NP_001099011.1:p.Glu525Asp;NP_005373.2:p.Glu901Asp 342255215 145759057 ESP2500-chr8-24776071 2011.03.26 2011.03.26 2011.05.09 2012.11.28 137 EXOME_CHIP 4741 NC_000008.10:g.24776071A>C;NG_008388.1:g.9798A>C;NM_001105541.1:c.1575A>C;NM_005382.2:c.2703A>C;NP_001099011.1:p.Glu525Asp;NP_005373.2:p.Glu901Asp 491411666 145759057 nonsyn_127892_chr_8_24776071 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776086C>T;NG_008388.1:g.9813C>T;NM_001105541.1:c.1590C>T;NM_005382.2:c.2718C>T;NP_001099011.1:p.His530=;NP_005373.2:p.His906= 488885397 201080167 20110521_exome_117806_chr8_24776086 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776180A>G;NG_008388.1:g.9907A>G;NM_001105541.1:c.*61A>G;NM_005382.2:c.*61A>G 460292241 190407133 20101123_snps_6459471_chr8_24776180 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24776195C>T;NG_008388.1:g.9922C>T;NM_001105541.1:c.*76C>T;NM_005382.2:c.*76C>T 460292242 181639767 20101123_snps_6459472_chr8_24776195 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24776248G>C;NG_008388.1:g.9975G>C;NM_001105541.1:c.*129G>C;NM_005382.2:c.*129G>C 460292243 186949291 20101123_snps_6459473_chr8_24776248 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 4741 NC_000008.10:g.24776354G>C;NG_008388.1:g.10081G>C;NM_001105541.1:c.*235G>C;NM_005382.2:c.*235G>C 460292244 190085693 20101123_snps_6459474_chr8_24776354 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CGAP-GAI 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 14793 12515 59383 2.38e-01 1999.08.23 2004.04.07 2000.09.19 2012.11.28 137 LEE 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 1546036 12515 908516 2.38e-01 2000.09.13 2003.10.10 2000.09.19 2012.11.28 137 LEE 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 4400099 12515 ge908517 2.38e-01 2002.04.25 2003.10.10 2000.09.19 2012.11.28 137 LEE 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 4431526 12515 e908517 2.38e-01 2002.04.26 2003.10.10 2000.09.19 2012.11.28 137 CGAP-GAI 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 16228874 12515 1465866 2.38e-01 2003.11.18 2003.11.22 2000.09.19 2012.11.28 137 CSHL-HAPMAP 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 19747782 12515 CSHL-HuDD-200402.chr8.NT_023666.16_3150696 2.38e-01 2004.02.21 2004.05.16 2000.09.19 2012.11.28 137 ABI 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 43266004 12515 hCV3058149 2.38e-01 2005.07.18 2006.11.03 2000.09.19 2012.11.28 137 SI_EXO 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 52070557 12515 NT_023666.17_3150696 2.38e-01 2006.03.29 2007.08.14 2000.09.19 2012.11.28 137 AFFY 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 76607155 12515 AFFY_6_1M_SNP_A-8468425 2.38e-01 2007.08.30 2007.08.30 2000.09.19 2012.11.28 137 HGSV 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 81191229 12515 Cor18555_SNV_20070510.chr8_24832328 2.38e-01 2007.11.28 2007.11.28 2000.09.19 2012.11.28 137 HGSV 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 81879918 12515 Cor18956_SNV_20070510.chr8_24832328 2.38e-01 2007.12.01 2007.12.01 2000.09.19 2012.11.28 137 HGSV 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 84427336 12515 Cor18517_SNV_20070510.chr8_24832328 2.38e-01 2007.12.07 2007.12.07 2000.09.19 2012.11.28 137 BGI 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 104515934 12515 BGI_rs12515 2.38e-01 2008.06.08 2009.06.18 2000.09.19 2012.11.28 137 KRIBB_YJKIM 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 104807970 12515 KHS1200306 2.38e-01 2008.07.10 2008.07.10 2000.09.19 2012.11.28 137 GMI 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 156161006 12515 GMI_SNP_212935010 2.38e-01 2009.06.24 2009.06.24 2000.09.19 2012.11.28 137 ENSEMBL 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 161632203 12515 ENSSNP2795159 2.38e-01 2009.09.25 2010.03.07 2000.09.19 2012.11.28 137 COMPLETE_GENOMICS 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 166411038 12515 NA20431_36_chr8_24832328 2.38e-01 2009.09.30 2009.09.30 2000.09.19 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 172131300 12515 Human1M-Duov3_B_rs12515-127_T_R_1518243952 2.38e-01 2009.10.02 2009.10.02 2000.09.19 2012.11.28 137 BUSHMAN 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 198936053 12515 BUSHMAN-chr8-24832327 2.38e-01 2010.03.06 2010.03.06 2000.09.19 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 223608566 12515 pilot_1_YRI_5418249_chr8_24832328 2.38e-01 2010.04.22 2010.04.22 2000.09.19 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 234368641 12515 pilot_1_CEU_3973270_chr8_24832328 2.38e-01 2010.05.01 2010.05.01 2000.09.19 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 241240020 12515 pilot_1_CHB+JPT_3125097_chr8_24832328 2.38e-01 2010.05.01 2010.05.01 2000.09.19 2012.11.28 137 GMI 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 279738882 12515 GMI_AK_SNP_4059135 2.38e-01 2010.12.16 2010.12.16 2000.09.19 2012.11.28 137 PJP 4741 NC_000008.10:g.24776423C>T;NG_008388.1:g.10150C>T;NM_001105541.1:c.*304C>T;NM_005382.2:c.*304C>T 294241695 12515 SNP_3748053_chr8_24832328 2.38e-01 2011.01.21 2011.01.21 2000.09.19 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776454T>C;NG_008388.1:g.10181T>C;NM_001105541.1:c.*335T>C;NM_005382.2:c.*335T>C 460292245 181276535 20101123_snps_6459475_chr8_24776454 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA 4741 NC_000008.10:g.24776590G>A;NG_008388.1:g.10317G>A;NM_001105541.1:c.*471G>A;NM_005382.2:c.*471G>A 75311459 55973274 ILMN_Human_1M_cnv12001p13 2007.08.29 2007.08.29 2007.12.07 2011.09.09 137 ILLUMINA 4741 NC_000008.10:g.24776590G>A;NG_008388.1:g.10317G>A;NM_001105541.1:c.*471G>A;NM_005382.2:c.*471G>A 123235185 55973274 HumanCNV370v1_C_cnv12001p13 2009.04.15 2009.04.15 2007.12.07 2011.09.09 137 ILLUMINA 4741 NC_000008.10:g.24776590G>A;NG_008388.1:g.10317G>A;NM_001105541.1:c.*471G>A;NM_005382.2:c.*471G>A 168899350 55973274 HumanCNV370-Quadv3_C_cnvi0001688-126_T_F_1514266246 2009.10.01 2009.10.02 2007.12.07 2011.09.09 137 ILLUMINA 4741 NC_000008.10:g.24776590G>A;NG_008388.1:g.10317G>A;NM_001105541.1:c.*471G>A;NM_005382.2:c.*471G>A 169160344 55973274 Human1M-Duov3_B_cnvi0001688-126_T_F_1514266246 2009.10.01 2009.10.01 2007.12.07 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24776784T>G;NG_008388.1:g.10511T>G;NM_001105541.1:c.*665T>G;NM_005382.2:c.*665T>G 334760925 144439790 20100804_snps_6404466_chr8_24776784 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24776840T>G;NG_008388.1:g.10567T>G;NM_001105541.1:c.*721T>G;NM_005382.2:c.*721T>G 334760926 147991484 20100804_snps_6404467_chr8_24776840 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24776857T>A;NG_008388.1:g.10584T>A;NM_001105541.1:c.*738T>A;NM_005382.2:c.*738T>A 460292246 185008357 20101123_snps_6459476_chr8_24776857 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 4741 NC_000008.10:g.24776871C>G;NG_008388.1:g.10598C>G;NM_001105541.1:c.*752C>G;NM_005382.2:c.*752C>G 115871315 73671805 NA18507_000052752_NCBI36.1_chr8_24832776 5.40e-02 2009.01.16 2009.01.16 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776871C>G;NG_008388.1:g.10598C>G;NM_001105541.1:c.*752C>G;NM_005382.2:c.*752C>G 223608567 73671805 pilot_1_YRI_5418250_chr8_24832776 5.40e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776871C>G;NG_008388.1:g.10598C>G;NM_001105541.1:c.*752C>G;NM_005382.2:c.*752C>G 234368642 73671805 pilot_1_CEU_3973271_chr8_24832776 5.40e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24776871C>G;NG_008388.1:g.10598C>G;NM_001105541.1:c.*752C>G;NM_005382.2:c.*752C>G 482294350 73671805 HumanOmni2.5-4v1_D_kgp212138-0_T_F_1808909359 5.40e-02 2012.02.01 2012.02.01 2009.02.14 2012.11.28 137 ILLUMINA 4741 NC_000008.10:g.24776871C>G;NG_008388.1:g.10598C>G;NM_001105541.1:c.*752C>G;NM_005382.2:c.*752C>G 485593915 73671805 HumanOmni2.5-4v1_B_SNP8-24832776-0_T_F_1621164500 5.40e-02 2012.02.05 2012.02.05 2009.02.14 2012.11.28 137 1000GENOMES 4741 NC_000008.10:g.24776889C>T;NG_008388.1:g.10616C>T;NM_001105541.1:c.*770C>T;NM_005382.2:c.*770C>T 223608568 115028697 pilot_1_YRI_5418251_chr8_24832794 7.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 4741 NC_000008.10:g.24776935C>T;NG_008388.1:g.10662C>T;NM_001105541.1:c.*816C>T;NM_005382.2:c.*816C>T 223608569 115418023 pilot_1_YRI_5418252_chr8_24832840 1.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 HUMANGENOME_JCVI 4741 NC_000008.10:g.24777083A>G;NG_008388.1:g.10810A>G;NM_001105541.1:c.*964A>G;NM_005382.2:c.*964A>G 98059458 71515886 1103652275267 2008.03.31 2008.03.31 2009.02.13 2011.09.09 137 # Report date: 2013.2.9, Gene: NEFM (4741), ss count: 510, rs count: 173.