# 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 COMPLETE_GENOMICS 64146 NC_000016.9:g.69362085G>A;NM_022341.1:c.*840C>T 171384998 113656415 NA20431_36_chr16_67919586 8.65e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362085G>A;NM_022341.1:c.*840C>T 339355169 113656415 20100804_snps_10998710_chr16_69362085 8.65e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BCM-HGSC-SUB 64146 NC_000016.9:g.69362161C>T;NM_022341.1:c.*764G>A 207576771 113722272 BCM_CMT_1011-2825003 5.00e-04 2010.03.19 2010.03.19 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362161C>T;NM_022341.1:c.*764G>A 464648328 113722272 20101123_snps_10815558_chr16_69362161 5.00e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362183T>C;NM_022341.1:c.*742A>G 339355170 146419080 20100804_snps_10998711_chr16_69362183 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69362301C>T;NM_022341.1:c.*624G>A 464648329 187671643 20101123_snps_10815559_chr16_69362301 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 64146 NC_000016.9:g.69362395G>A;NM_022341.1:c.*530C>T 339355171 140757673 20100804_snps_10998712_chr16_69362395 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 10807927 7186150 chr16.NT_010498.13_18083917 2.06e-02 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 75205129 7186150 ILMN_Human_1M_rs7186150 2.06e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 119545451 7186150 KHS1707698 2.06e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 160857527 7186150 HumanOmni1-Quad_v1-0_B_rs7186150-128_T_F_1514185150 2.06e-02 2009.08.07 2009.10.04 2003.07.11 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 174280022 7186150 Human1M-Duov3_B_rs7186150-127_T_F_1514185150 2.06e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 227304461 7186150 pilot_1_YRI_9114144_chr16_67919909 2.06e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 481497243 7186150 HumanOmni2.5-4v1_B_rs7186150-128_T_F_1514185150 2.06e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 481525838 7186150 HumanOmniExpress-12v1_C_rs7186150-131_T_F_1857205073 2.06e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 482502067 7186150 HumanOmni1-Quad_v1-0_C_rs7186150-131_T_F_1857205073 2.06e-02 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362408C>A;NM_022341.1:c.*517G>T 485543799 7186150 HumanOmni2.5-4v1_D_rs7186150-131_T_F_1857205073 2.06e-02 2012.02.05 2012.02.05 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69362429C>T;NM_022341.1:c.*496G>A 171385008 111425280 NA20431_36_chr16_67919930 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 YUSUKE 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 3198717 2242413 IMS-JST014639 2.42e-01 2001.08.07 2003.10.10 2001.08.15 2012.11.28 137 BCM_SSAHASNP 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 10807984 2242413 chr16.NT_010498.13_18083961 2.42e-01 2003.06.30 2006.10.25 2001.08.15 2012.11.28 137 BCM_SSAHASNP 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 14273124 2242413 chr16.NT_010498.14_18083956 2.42e-01 2003.11.07 2003.11.22 2001.08.15 2012.11.28 137 ABI 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 43799082 2242413 hCV3028303 2.42e-01 2005.07.18 2006.11.03 2001.08.15 2012.11.28 137 HGSV 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 79049366 2242413 Cor18507_SNV_20070510.chr16_67919953 2.42e-01 2007.10.22 2007.10.22 2001.08.15 2012.11.28 137 HUMANGENOME_JCVI 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 96690911 2242413 1103645502716 2.42e-01 2008.03.27 2008.03.27 2001.08.15 2012.11.28 137 BGI 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 103304066 2242413 BGI_rs2242413 2.42e-01 2008.06.06 2009.06.18 2001.08.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 109411470 2242413 CEU.trio.12.15.2008_3312477_chr16_67919953 2.42e-01 2008.12.16 2008.12.16 2001.08.15 2012.11.28 137 ILLUMINA-UK 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 118292811 2242413 NA18507_000072373_NCBI36.1_chr16_67919953 2.42e-01 2009.01.21 2009.01.21 2001.08.15 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 160520562 2242413 HumanOmni1-Quad_v1-0_B_rs2242413-128_B_F_1578097387 2.42e-01 2009.08.06 2009.10.02 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 168387278 2242413 NA07022_36_chr16_67919953 2.42e-01 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 171385019 2242413 NA20431_36_chr16_67919953 2.42e-01 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 BUSHMAN 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 201838245 2242413 BUSHMAN-chr16-67919952 2.42e-01 2010.03.08 2010.03.08 2001.08.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 211728632 2242413 YRI.trio.3.2010_1324316_chr16_67919953 2.42e-01 2010.03.30 2010.03.30 2001.08.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 227304462 2242413 pilot_1_YRI_9114145_chr16_67919953 2.42e-01 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 237069978 2242413 pilot_1_CEU_6674607_chr16_67919953 2.42e-01 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 243400645 2242413 pilot_1_CHB+JPT_5285722_chr16_67919953 2.42e-01 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 GMI 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 282576940 2242413 GMI_AK_SNP_6897357 2.42e-01 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 PJP 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 291864280 2242413 SNP_1370638_chr16_67919953 2.42e-01 2011.01.21 2011.01.21 2001.08.15 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362452C>G;NM_022341.1:c.*473G>C 481296574 2242413 HumanOmni1-Quad_v1-0_C_rs2242413-131_B_F_1863403078 2.42e-01 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362541C>A;NM_022341.1:c.*384G>T 339355172 143819789 20100804_snps_10998713_chr16_69362541 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69362718C>T;NM_022341.1:c.*207G>A 464648330 193207671 20101123_snps_10815560_chr16_69362718 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 LEE 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 1534063 1055401 619423 4.72e-02 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 LEE 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 4396991 1055401 ge619423 4.72e-02 2002.04.25 2003.10.10 2000.10.05 2012.11.28 137 LEE 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 4422859 1055401 e619423 4.72e-02 2002.04.26 2003.10.10 2000.10.05 2012.11.28 137 CSHL-HAPMAP 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 16716190 1055401 CSHL-HuAA-200402.chr16.NT_010498.14_18084281 4.72e-02 2004.02.18 2004.05.16 2000.10.05 2012.11.28 137 SSAHASNP 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 21315452 1055401 WGSA-200403-chr16.chr16.NT_010498.14_18084281 4.72e-02 2004.03.19 2004.03.19 2000.10.05 2012.11.28 137 ABI 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 40705145 1055401 hCV8730455 4.72e-02 2005.07.17 2005.07.17 2000.10.05 2012.11.28 137 BGI 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 103304067 1055401 BGI_rs1055401 4.72e-02 2008.06.06 2009.06.18 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 159910666 1055401 HumanOmni1-Quad_v1-0_B_rs1055401-128_B_R_1562650136 4.72e-02 2009.08.04 2009.10.01 2000.10.05 2012.11.28 137 ENSEMBL 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 161796497 1055401 ENSSNP1245828 4.72e-02 2009.09.25 2009.09.25 2000.10.05 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 237069979 1055401 pilot_1_CEU_6674608_chr16_67920278 4.72e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 243400646 1055401 pilot_1_CHB+JPT_5285723_chr16_67920278 4.72e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 282576941 1055401 GMI_AK_SNP_6897358 4.72e-02 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362777T>A;NM_022341.1:c.*148A>T 479708549 1055401 HumanOmni1-Quad_v1-0_C_rs1055401-131_B_R_1863269782 4.72e-02 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 LEE 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 1534061 1055399 619382 4.72e-02 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 LEE 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 4396990 1055399 ge619382 4.72e-02 2002.04.25 2003.10.10 2000.10.05 2012.11.28 137 LEE 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 4422858 1055399 e619382 4.72e-02 2002.04.26 2003.10.10 2000.10.05 2012.11.28 137 CSHL-HAPMAP 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 16697626 1055399 CSHL-HuAA-200402.chr16.NT_010498.14_18084283 4.72e-02 2004.02.18 2004.05.16 2000.10.05 2012.11.28 137 SSAHASNP 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 21311151 1055399 WGSA-200403-chr16.chr16.NT_010498.14_18084283 4.72e-02 2004.03.19 2004.03.19 2000.10.05 2012.11.28 137 ABI 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 40694273 1055399 hCV8730454 4.72e-02 2005.07.17 2005.07.17 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 75099660 1055399 ILMN_Human_1M_rs1055399 4.72e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 BGI 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 103304068 1055399 BGI_rs1055399 4.72e-02 2008.06.06 2009.06.18 2000.10.05 2012.11.28 137 KRIBB_YJKIM 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 119380868 1055399 KHS1543115 4.72e-02 2009.02.04 2009.02.04 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 159910664 1055399 HumanOmni1-Quad_v1-0_B_rs1055399-128_T_R_1514057898 4.72e-02 2009.08.04 2009.10.01 2000.10.05 2012.11.28 137 ENSEMBL 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 161796499 1055399 ENSSNP1245829 4.72e-02 2009.09.25 2009.09.25 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 170383885 1055399 Human1M-Duov3_B_rs1055399-127_T_R_1514057898 4.72e-02 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 237069980 1055399 pilot_1_CEU_6674609_chr16_67920280 4.72e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 243400647 1055399 pilot_1_CHB+JPT_5285724_chr16_67920280 4.72e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 282576942 1055399 GMI_AK_SNP_6897359 4.72e-02 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 479319040 1055399 HumanOmni2.5-4v1_B_rs1055399-128_T_R_1514057898 4.72e-02 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 479322266 1055399 HumanOmniExpress-12v1_C_rs1055399-131_T_R_1857122717 4.72e-02 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 479708539 1055399 HumanOmni1-Quad_v1-0_C_rs1055399-131_T_R_1865642105 4.72e-02 2012.01.30 2012.01.30 2000.10.05 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69362779C>A;NM_022341.1:c.*146G>T 484459838 1055399 HumanOmni2.5-4v1_D_rs1055399-131_T_R_1857122717 4.72e-02 2012.02.03 2012.02.03 2000.10.05 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69362822C>T;NM_022341.1:c.*103G>A 339355173 151108653 20100804_snps_10998714_chr16_69362822 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 NHLBI-ESP 64146 NC_000016.9:g.69362947T>C;NM_022341.1:c.710A>G;NP_071736.1:p.Tyr237Cys 342432433 139585589 ESP2500-chr16-69362947 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 64146 NC_000016.9:g.69362947T>C;NM_022341.1:c.710A>G;NP_071736.1:p.Tyr237Cys 491510311 139585589 nonsyn_226537_chr_16_69362947 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 EXOME_CHIP 64146 NC_000016.9:g.69362969T>G;NM_022341.1:c.688A>C;NP_071736.1:p.Ser230Arg 491510312 201820336 nonsyn_226538_chr_16_69362969 2012.03.05 2012.03.05 2012.05.04 2012.05.04 137 NHLBI-ESP 64146 NC_000016.9:g.69363037C>T;NM_022341.1:c.620G>A;NP_071736.1:p.Trp207Ter 342432434 149692669 ESP2500-chr16-69363037 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 64146 NC_000016.9:g.69363106G>C;NM_022341.1:c.575-24C>G 339355174 141051526 20100804_snps_10998715_chr16_69363106 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363106G>C;NM_022341.1:c.575-24C>G 491106309 141051526 20110521_exome_614107_chr16_69363106 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 64146 NC_000016.9:g.69363106G>C;NM_022341.1:c.575-24C>G 491721233 141051526 SNV-chr16-67920607 5.00e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363174C>T;NM_022341.1:c.575-92G>A 227304463 114794947 pilot_1_YRI_9114146_chr16_67920675 6.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363199G>A;NM_022341.1:c.575-117C>T 339355175 150241567 20100804_snps_10998716_chr16_69363199 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69363239C>T;NM_022341.1:c.575-157G>A 464648331 185591591 20101123_snps_10815561_chr16_69363239 5.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA-UK 64146 NC_000016.9:g.69363258C>T;NM_022341.1:c.575-176G>A 118292812 74027307 NA18507_000072374_NCBI36.1_chr16_67920759 6.00e-03 2009.01.21 2009.01.21 2009.02.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363258C>T;NM_022341.1:c.575-176G>A 339355176 74027307 20100804_snps_10998717_chr16_69363258 6.00e-03 2011.03.22 2011.03.22 2009.02.15 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363388C>T;NM_022341.1:c.575-306G>A 227304464 115476825 pilot_1_YRI_9114147_chr16_67920889 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69363388C>T;NM_022341.1:c.575-306G>A 481098812 115476825 HumanOmni2.5-4v1_D_kgp16387104-0_T_R_1843126562 6.90e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69363388C>T;NM_022341.1:c.575-306G>A 483539688 115476825 HumanOmni2.5-4v1_B_SNP16-67920889-0_T_R_1631403881 6.90e-03 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363406G>A;NM_022341.1:c.575-324C>T 464648332 187939976 20101123_snps_10815562_chr16_69363406 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 64146 NC_000016.9:g.69363494G>A;NM_022341.1:c.574+406C>T 84868724 60463421 Cor19129_SNV_20070510.chr16_67920995 3.20e-03 2007.12.08 2007.12.08 2007.12.16 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363494G>A;NM_022341.1:c.574+406C>T 227304465 60463421 pilot_1_YRI_9114148_chr16_67920995 3.20e-03 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69363494G>A;NM_022341.1:c.574+406C>T 481116209 60463421 HumanOmni2.5-4v1_D_kgp16455801-0_T_F_1843263951 3.20e-03 2012.01.31 2012.01.31 2007.12.16 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69363494G>A;NM_022341.1:c.574+406C>T 483539690 60463421 HumanOmni2.5-4v1_B_SNP16-67920995-0_T_F_1642359582 3.20e-03 2012.02.02 2012.02.02 2007.12.16 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363562G>A;NM_022341.1:c.574+338C>T 339355177 141644076 20100804_snps_10998718_chr16_69363562 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69363631T>C;NM_022341.1:c.574+269A>G 339355178 147046890 20100804_snps_10998719_chr16_69363631 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 3198718 2242414 IMS-JST014640 2.65e-01 2001.08.07 2003.10.10 2001.08.15 2011.09.09 137 WI_SSAHASNP 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 12368514 2242414 chr16.NT_010498.13_18085243 2.65e-01 2003.07.04 2003.10.10 2001.08.15 2011.09.09 137 SSAHASNP 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 21330847 2242414 WGSA-200403-chr16.chr16.NT_010498.14_18085238 2.65e-01 2004.03.19 2004.03.19 2001.08.15 2011.09.09 137 ABI 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 43870279 2242414 hCV16174280 2.65e-01 2005.07.18 2005.07.18 2001.08.15 2011.09.09 137 HGSV 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 78760416 2242414 Cor12878_SNV_20070510.chr16_67921235 2.65e-01 2007.10.20 2007.10.20 2001.08.15 2011.09.09 137 HUMANGENOME_JCVI 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 96690912 2242414 1103645502717 2.65e-01 2008.03.27 2008.03.27 2001.08.15 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 109411474 2242414 CEU.trio.12.15.2008_3312478_chr16_67921235 2.65e-01 2008.12.16 2008.12.16 2001.08.15 2011.09.09 137 ILLUMINA-UK 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 118292814 2242414 NA18507_000072375_NCBI36.1_chr16_67921235 2.65e-01 2009.01.21 2009.01.21 2001.08.15 2011.09.09 137 ENSEMBL 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 136701029 2242414 ENSSNP1245830 2.65e-01 2009.05.15 2009.10.15 2001.08.15 2011.09.09 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 168387289 2242414 NA07022_36_chr16_67921235 2.65e-01 2009.10.01 2009.10.01 2001.08.15 2011.09.09 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 171385031 2242414 NA20431_36_chr16_67921235 2.65e-01 2009.10.01 2009.10.01 2001.08.15 2011.09.09 137 BUSHMAN 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 201838249 2242414 BUSHMAN-chr16-67921234 2.65e-01 2010.03.08 2010.03.08 2001.08.15 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 227304466 2242414 pilot_1_YRI_9114149_chr16_67921235 2.65e-01 2010.04.22 2010.04.22 2001.08.15 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 237069981 2242414 pilot_1_CEU_6674610_chr16_67921235 2.65e-01 2010.05.01 2010.05.01 2001.08.15 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 243400648 2242414 pilot_1_CHB+JPT_5285725_chr16_67921235 2.65e-01 2010.05.01 2010.05.01 2001.08.15 2011.09.09 137 BL 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 255782026 2242414 SNP72580_16_67921235 2.65e-01 2010.08.20 2010.08.20 2001.08.15 2011.09.09 137 PJP 64146 NC_000016.9:g.69363734A>G;NM_022341.1:c.574+166T>C 291864281 2242414 SNP_1370639_chr16_67921235 2.65e-01 2011.01.21 2011.01.21 2001.08.15 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69363805C>T;NM_022341.1:c.574+95G>A 227304467 116769441 pilot_1_YRI_9114150_chr16_67921306 1.19e-02 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69363805C>T;NM_022341.1:c.574+95G>A 481120876 116769441 HumanOmni2.5-4v1_D_kgp16473274-0_T_R_1843298898 1.19e-02 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69363805C>T;NM_022341.1:c.574+95G>A 483539692 116769441 HumanOmni2.5-4v1_B_SNP16-67921306-0_T_R_1648850878 1.19e-02 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363982G>A;NM_022341.1:c.492C>T;NP_071736.1:p.Arg164= 339355179 138307515 20100804_snps_10998720_chr16_69363982 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363982G>A;NM_022341.1:c.492C>T;NP_071736.1:p.Arg164= 491106310 138307515 20110521_exome_614108_chr16_69363982 5.50e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 64146 NC_000016.9:g.69363998C>A;NC_000016.9:g.69363998C>T;NM_022341.1:c.476G>A;NM_022341.1:c.476G>T;NP_071736.1:p.Arg159Gln;NP_071736.1:p.Arg159Leu 342432435 146706303 ESP2500-chr16-69363998 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69363998C>A;NC_000016.9:g.69363998C>T;NM_022341.1:c.476G>A;NM_022341.1:c.476G>T;NP_071736.1:p.Arg159Gln;NP_071736.1:p.Arg159Leu 489084804 146706303 20110521_exome_215945_chr16_69363998 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 64146 NC_000016.9:g.69364002G>A;NM_022341.1:c.472C>T;NP_071736.1:p.Leu158= 342432436 140210976 ESP2500-chr16-69364002 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 64146 NC_000016.9:g.69364006G>A;NM_022341.1:c.468C>T;NP_071736.1:p.Pro156= 339355180 143789731 20100804_snps_10998721_chr16_69364006 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69364026_69364028delGGG;NM_022341.1:c.446_448delCCC;NP_071736.1:p.Pro149_Leu150delinsLeu 328199921 150474895 YRI_chr16_67921526_indel 1.10e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364026_69364028delGGG;NM_022341.1:c.446_448delCCC;NP_071736.1:p.Pro149_Leu150delinsLeu 499127189 150474895 20110316_indels_chr16_69364025_69364027 1.10e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 TSC-CSHL 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 83673 3852691 TSC0031342 6.59e-02 2002.09.20 2003.10.10 2002.10.08 2012.11.28 137 TSC-CSHL 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 5270404 3852691 TSC1722710 6.59e-02 2002.09.20 2004.05.16 2002.10.08 2012.11.28 137 TSC-CSHL 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 5270405 3852691 TSC1722711 6.59e-02 2002.09.20 2003.10.10 2002.10.08 2012.11.28 137 SC_JCM 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 5681102 3852691 NT_010478.10_2858355 6.59e-02 2003.01.10 2003.10.10 2002.10.08 2012.11.28 137 HGSV 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 78276215 3852691 Cor12878_SNV_20070510.chr16_67921531 6.59e-02 2007.10.18 2007.10.18 2002.10.08 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 211728634 3852691 YRI.trio.3.2010_1324317_chr16_67921531 6.59e-02 2010.03.30 2010.03.30 2002.10.08 2012.11.28 137 NHLBI-ESP 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 342432437 3852691 ESP2500-chr16-69364030 6.59e-02 2011.03.27 2011.03.27 2002.10.08 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 464648333 3852691 20101123_snps_10815563_chr16_69364030 6.59e-02 2011.07.20 2011.07.20 2002.10.08 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 479269715 3852691 HumanOmni2.5-4v1_D_kgp10316706-0_T_F_1802289842 6.59e-02 2012.01.30 2012.01.30 2002.10.08 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 483539694 3852691 HumanOmni2.5-4v1_B_SNP16-67921531-0_T_F_1623114419 6.59e-02 2012.02.02 2012.02.02 2002.10.08 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364030G>A;NM_022341.1:c.444C>T;NP_071736.1:p.Phe148= 491106311 3852691 20110521_exome_614109_chr16_69364030 6.59e-02 2012.02.22 2012.02.22 2002.10.08 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364084C>A;NM_022341.1:c.390G>T;NP_071736.1:p.Ala130= 339355181 76541160 20100804_snps_10998722_chr16_69364084 1.24e-02 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364084C>A;NM_022341.1:c.390G>T;NP_071736.1:p.Ala130= 491106312 76541160 20110521_exome_614110_chr16_69364084 1.24e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 SSAHASNP 64146 NC_000016.9:g.69364190A>T;NM_022341.1:c.284T>A;NP_071736.1:p.Leu95Gln 21333482 12925966 WGSA-200403-chr16.chr16.NT_010498.14_18085694 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 1000GENOMES 64146 NC_000016.9:g.69364437G>A;NM_022341.1:c.37C>T;NP_071736.1:p.Leu13= 464648334 184453457 20101123_snps_10815564_chr16_69364437 1.37e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 12370772 8057004 chr16.NT_010498.13_18085952 2.60e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 BCM_SSAHASNP 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 14259196 8057004 chr16.NT_010498.14_18085947 2.60e-01 2003.11.07 2003.11.22 2003.07.11 2012.11.28 137 CGAP-GAI 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 16229350 8057004 1466798 2.60e-01 2003.11.18 2003.11.22 2003.07.11 2012.11.28 137 MGC_GENOME_DIFF 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 28509785 8057004 BC019912x37541544-A18085947G 2.60e-01 2004.08.25 2004.08.25 2003.07.11 2012.11.28 137 BGI 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 103304069 8057004 BGI_rs8057004 2.60e-01 2008.06.06 2009.06.18 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 168387295 8057004 NA07022_36_chr16_67921944 2.60e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 227304469 8057004 pilot_1_YRI_9114152_chr16_67921944 2.60e-01 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 237069983 8057004 pilot_1_CEU_6674612_chr16_67921944 2.60e-01 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 EXOME_CHIP 64146 NC_000016.9:g.69364443A>G;NM_022341.1:c.31T>C;NP_071736.1:p.Trp11Arg 491510313 8057004 nonsyn_226539_chr_16_69364443 2.60e-01 2012.03.05 2012.03.05 2003.07.11 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364466C>T;NM_022341.1:c.8G>A;NP_071736.1:p.Arg3Gln 464648335 188405840 20101123_snps_10815565_chr16_69364466 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 64146 NC_000016.9:g.69364503delC;NM_022341.1:c.-30delG 40661212 35955795 hCV32881429 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BGI 64146 NC_000016.9:g.69364545G>C;NM_022341.1:c.-72C>G 103304070 79876002 BGI_YHSNP0093853 6.90e-03 2008.06.06 2009.06.18 2009.12.01 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364545G>C;NM_022341.1:c.-72C>G 464648336 79876002 20101123_snps_10815566_chr16_69364545 6.90e-03 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364564C>A;NM_022341.1:c.-91G>T 339355182 148264366 20100804_snps_10998723_chr16_69364564 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 64146 NC_000016.9:g.69364567G>T;NM_022341.1:c.-94C>A 201838253 112744495 BUSHMAN-chr16-67922067 1.19e-02 2010.03.08 2010.03.08 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364567G>T;NM_022341.1:c.-94C>A 339355183 112744495 20100804_snps_10998724_chr16_69364567 1.19e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 64146 NC_000016.9:g.69364609G>A;NM_022341.1:c.-136C>T 201838257 111394740 BUSHMAN-chr16-67922109 6.40e-03 2010.03.08 2010.03.08 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364609G>A;NM_022341.1:c.-136C>T 339355184 111394740 20100804_snps_10998725_chr16_69364609 6.40e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364616T>G;NM_022341.1:c.-143A>C 464648337 184252224 20101123_snps_10815567_chr16_69364616 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 64146 NC_000016.9:g.69364677A>G;NM_022341.1:c.-204T>C 4997754 3811347 IMS-JST171232 2002.08.12 2003.10.10 2002.08.28 2011.07.08 137 GMI 64146 NC_000016.9:g.69364857G>A;NM_022341.1:c.-384C>T 282576943 201914539 GMI_AK_SNP_6897360 2.70e-03 2010.12.16 2010.12.16 2012.05.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364857G>A;NM_022341.1:c.-384C>T 489084806 201914539 20110521_exome_215946_chr16_69364857 2.70e-03 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 EXOME_CHIP 64146 NC_000016.9:g.69364857G>A;NM_022341.1:c.-384C>T 491510314 201914539 nonsyn_226540_chr_16_69364857 2.70e-03 2012.03.05 2012.03.05 2012.05.04 2012.11.28 137 NHLBI-ESP 64146 NC_000016.9:g.69364874C>T;NM_022341.1:c.-401G>A 342432438 146627356 ESP2500-chr16-69364874 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 64146 NC_000016.9:g.69364879G>T;NM_022341.1:c.-406C>A 342432439 149222287 ESP2500-chr16-69364879 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 64146 NC_000016.9:g.69364889G>A;NM_022341.1:c.-416C>T 489084808 199504043 20110521_exome_215947_chr16_69364889 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 NHLBI-ESP 64146 NC_000016.9:g.69364899G>A;NM_022341.1:c.-426C>T 342432440 143411142 ESP2500-chr16-69364899 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364899G>A;NM_022341.1:c.-426C>T 489084810 143411142 20110521_exome_215948_chr16_69364899 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 EXOME_CHIP 64146 NC_000016.9:g.69364899G>A;NM_022341.1:c.-426C>T 491510315 143411142 nonsyn_226541_chr_16_69364899 5.00e-04 2012.03.05 2012.03.05 2011.05.09 2012.11.28 137 BUSHMAN 64146 NC_000016.9:g.69364938A>G;NM_022341.1:c.-465T>C 201838260 111336106 BUSHMAN-chr16-67922438 2010.03.08 2010.03.08 2010.07.04 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69364960C>T;NM_022341.1:c.-487G>A 489084812 200972444 20110521_exome_215949_chr16_69364960 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364961T>G;NM_022341.1:c.-488A>C 464648338 189199610 20101123_snps_10815568_chr16_69364961 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364961T>G;NM_022341.1:c.-488A>C 491106313 189199610 20110521_exome_614111_chr16_69364961 2.70e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 OMIM-CURATED-RECORDS 64146 NM_032382.4:c.1611C>G NC_000016.9:g.69364970G>C;NM_022341.1:c.-497C>G 256240291 121434387 14480 germline pathogenic 2010.08.23 2010.08.25 2010.08.25 2012.09.29 137 ILLUMINA 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 161057333 76253513 HumanOmni1-Quad_v1-0_B_SNP16-67922491-128_B_R_1587998195 1.10e-02 2009.08.07 2009.10.05 2009.12.01 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 227304470 76253513 pilot_1_YRI_9114153_chr16_67922491 1.10e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 NHLBI-ESP 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 342432441 76253513 ESP2500-chr16-69364990 1.10e-02 2011.03.27 2011.03.27 2009.12.01 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 479224425 76253513 HumanOmni1-Quad_v1-0_C_kgp16360859-0_B_R_1843074073 1.10e-02 2012.01.30 2012.01.30 2009.12.01 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 481092142 76253513 HumanOmni2.5-4v1_D_kgp16360859-0_T_F_1843074072 1.10e-02 2012.01.31 2012.01.31 2009.12.01 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 483539696 76253513 HumanOmni2.5-4v1_B_SNP16-67922491-0_T_F_1626128626 1.10e-02 2012.02.02 2012.02.02 2009.12.01 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 491106314 76253513 20110521_exome_614112_chr16_69364990 1.10e-02 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 EXOME_CHIP 64146 NC_000016.9:g.69364990G>A;NM_022341.1:c.-517C>T 491510316 76253513 nonsyn_226542_chr_16_69364990 1.10e-02 2012.03.05 2012.03.05 2009.12.01 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364992G>A;NM_022341.1:c.-519C>T 227304471 114861924 pilot_1_YRI_9114154_chr16_67922493 7.30e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 NHLBI-ESP 64146 NC_000016.9:g.69364992G>A;NM_022341.1:c.-519C>T 342432442 114861924 ESP2500-chr16-69364992 7.30e-03 2011.03.27 2011.03.27 2010.07.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69364992G>A;NM_022341.1:c.-519C>T 491106315 114861924 20110521_exome_614113_chr16_69364992 7.30e-03 2012.02.22 2012.02.22 2010.07.14 2012.11.28 137 EXOME_CHIP 64146 NC_000016.9:g.69364992G>A;NM_022341.1:c.-519C>T 491510317 114861924 nonsyn_226543_chr_16_69364992 7.30e-03 2012.03.05 2012.03.05 2010.07.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365044A>C;NM_022341.1:c.-571T>G 339355186 144045802 20100804_snps_10998727_chr16_69365044 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365044A>C;NM_022341.1:c.-571T>G 491106316 144045802 20110521_exome_614114_chr16_69365044 3.20e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 BUSHMAN 64146 NC_000016.9:g.69365122_69365123insT;NM_022341.1:c.-650_-649insA 193424588 111432987 BUSHMAN-chr16-67922623-67922623 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 1000GENOMES 64146 NC_000016.9:g.69365122G>C;NM_022341.1:c.-649C>G 464648339 181040346 20101123_snps_10815569_chr16_69365122 5.59e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 13767552 9928658 chr16.NT_010498.14_18086627 1.52e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 16708297 9928658 CSHL-HuAA-200402.chr16.NT_010498.14_18086627 1.52e-01 2004.02.18 2004.03.04 2003.12.05 2012.11.28 137 ABI 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 40725976 9928658 hCV30402952 1.52e-01 2005.07.17 2005.07.17 2003.12.05 2012.11.28 137 ENSEMBL 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 132522611 9928658 ENSSNP1245831 1.52e-01 2009.05.11 2009.10.15 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 168387308 9928658 NA07022_36_chr16_67922624 1.52e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 201838264 9928658 BUSHMAN-chr16-67922623 1.52e-01 2010.03.08 2010.03.08 2003.12.05 2012.11.28 137 BL 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 255782030 9928658 SNP72581_16_67922624 1.52e-01 2010.08.20 2010.08.20 2003.12.05 2012.11.28 137 GMI 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 282576944 9928658 GMI_AK_SNP_6897361 1.52e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365123G>T;NM_022341.1:c.-650C>A 339355187 9928658 20100804_snps_10998728_chr16_69365123 1.52e-01 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 GMI 64146 NC_000016.9:g.69365153C>T;NM_022341.1:c.-680G>A 282576945 139824417 GMI_AK_SNP_6897362 6.90e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365153C>T;NM_022341.1:c.-680G>A 339355188 139824417 20100804_snps_10998729_chr16_69365153 6.90e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365207T>C;NM_022341.1:c.-734A>G 339355189 149657356 20100804_snps_10998730_chr16_69365207 4.10e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69365288G>A;NM_022341.1:c.-815C>T 464648340 186439067 20101123_snps_10815570_chr16_69365288 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 64146 NC_000016.9:g.69365380A>G;NM_022341.1:c.-907T>C 136781438 77548036 ENSSNP11151364 2009.05.15 2009.05.15 2009.12.01 2011.07.08 137 BUSHMAN 64146 NC_000016.9:g.69365430_69365431insAG;NM_022341.1:c.-958_-957insCT 193424590 112657993 BUSHMAN-chr16-67922931-67922931 2.51e-01 2010.02.16 2010.02.16 2010.07.04 2012.11.28 137 BL 64146 NC_000016.9:g.69365430_69365431insAG;NM_022341.1:c.-958_-957insCT 256177559 112657993 SNP4565_16_67922931 2.51e-01 2010.08.20 2010.08.20 2010.07.04 2012.11.28 137 GMI 64146 NC_000016.9:g.69365430_69365431insAG;NM_022341.1:c.-958_-957insCT 289301339 112657993 GMI_AK_INDEL_974825 2.51e-01 2010.12.29 2011.12.29 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365430_69365431insAG;NM_022341.1:c.-958_-957insCT 327866498 112657993 CEU_chr16_67922931_indel 2.51e-01 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365430_69365431insAG;NM_022341.1:c.-958_-957insCT 328199922 112657993 YRI_chr16_67922931_indel 2.51e-01 2011.03.13 2011.04.03 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365430_69365431insAG;NM_022341.1:c.-958_-957insCT 499127192 112657993 20110316_indels_chr16_69365430_69365431 2.51e-01 2012.03.19 2012.03.19 2010.07.04 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365471T>C;NM_022341.1:c.-998A>G 464648341 189586659 20101123_snps_10815571_chr16_69365471 6.90e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 64146 NC_000016.9:g.69365510G>T;NM_022341.1:c.-1037C>A 464648342 181551746 20101123_snps_10815572_chr16_69365510 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 64146 NC_000016.9:g.69365548G>A;NM_022341.1:c.-1075C>T 464648343 186163539 20101123_snps_10815573_chr16_69365548 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 64146 NC_000016.9:g.69365616C>A;NM_022341.1:c.-1143G>T 464648344 190139414 20101123_snps_10815574_chr16_69365616 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 64146 NC_000016.9:g.69365720T>G;NM_022341.1:c.-1247A>C 464648345 183018588 20101123_snps_10815575_chr16_69365720 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 64146 NC_000016.9:g.69365733A>T;NM_022341.1:c.-1260T>A 282576946 185926308 GMI_AK_SNP_6897363 2.70e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365733A>T;NM_022341.1:c.-1260T>A 464648346 185926308 20101123_snps_10815576_chr16_69365733 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365753T>C;NM_022341.1:c.-1280A>G 227304472 115610180 pilot_1_YRI_9114155_chr16_67923254 9.20e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 GMI 64146 NC_000016.9:g.69365753T>C;NM_022341.1:c.-1280A>G 282576947 115610180 GMI_AK_SNP_6897364 9.20e-03 2010.12.16 2010.12.16 2010.07.14 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69365753T>C;NM_022341.1:c.-1280A>G 481117225 115610180 HumanOmni2.5-4v1_D_kgp16459349-0_T_R_1843271048 9.20e-03 2012.01.31 2012.01.31 2010.07.14 2012.11.28 137 ILLUMINA 64146 NC_000016.9:g.69365753T>C;NM_022341.1:c.-1280A>G 483539700 115610180 HumanOmni2.5-4v1_B_SNP16-67923254-0_T_R_1648848541 9.20e-03 2012.02.02 2012.02.02 2010.07.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365816C>A;NM_022341.1:c.-1343G>T 339355190 145425241 20100804_snps_10998731_chr16_69365816 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ILLUMINA-UK 64146 NC_000016.9:g.69365858A>C;NM_022341.1:c.-1385T>G 118292816 74027308 NA18507_000072376_NCBI36.1_chr16_67923359 1.74e-02 2009.01.21 2009.01.21 2009.02.15 2011.09.09 137 BUSHMAN 64146 NC_000016.9:g.69365858A>C;NM_022341.1:c.-1385T>G 201838268 74027308 BUSHMAN-chr16-67923358 1.74e-02 2010.03.08 2010.03.08 2009.02.15 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69365858A>C;NM_022341.1:c.-1385T>G 227304473 74027308 pilot_1_YRI_9114156_chr16_67923359 1.74e-02 2010.04.22 2010.04.22 2009.02.15 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69365936G>A;NM_022341.1:c.-1463C>T 109411476 72795275 CEU.trio.12.15.2008_3312479_chr16_67923437 5.31e-02 2008.12.16 2008.12.16 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69365936G>A;NM_022341.1:c.-1463C>T 171385054 72795275 NA20431_36_chr16_67923437 5.31e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365936G>A;NM_022341.1:c.-1463C>T 227304474 72795275 pilot_1_YRI_9114157_chr16_67923437 5.31e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365936G>A;NM_022341.1:c.-1463C>T 237069984 72795275 pilot_1_CEU_6674613_chr16_67923437 5.31e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365936G>A;NM_022341.1:c.-1463C>T 243400650 72795275 pilot_1_CHB+JPT_5285727_chr16_67923437 5.31e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365961_69365962insA;NM_022341.1:c.-1489_-1488insT 328199923 144129341 YRI_chr16_67923462_indel 1.33e-02 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69365961_69365962insA;NM_022341.1:c.-1489_-1488insT 499127196 144129341 20110316_indels_chr16_69365961_69365962 1.33e-02 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69366145C>T;NM_022341.1:c.-1672G>A 464648347 190745890 20101123_snps_10815577_chr16_69366145 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 64146 NC_000016.9:g.69366178G>A;NM_022341.1:c.-1705C>T 171385065 113161132 NA20431_36_chr16_67923679 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 CSHL-HAPMAP 64146 NC_000016.9:g.69366217C>T;NM_022341.1:c.-1744G>A 17564030 11863260 CSHL-HuCC-200402.chr16.NT_010498.14_18087721 2.11e-02 2004.02.19 2004.03.04 2004.02.28 2012.11.28 137 ABI 64146 NC_000016.9:g.69366217C>T;NM_022341.1:c.-1744G>A 40699251 11863260 hCV11509339 2.11e-02 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 ENSEMBL 64146 NC_000016.9:g.69366217C>T;NM_022341.1:c.-1744G>A 161796500 11863260 ENSSNP1245832 2.11e-02 2009.09.25 2009.09.25 2004.02.28 2012.11.28 137 BUSHMAN 64146 NC_000016.9:g.69366217C>T;NM_022341.1:c.-1744G>A 201838272 11863260 BUSHMAN-chr16-67923717 2.11e-02 2010.03.08 2010.03.08 2004.02.28 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69366217C>T;NM_022341.1:c.-1744G>A 339355191 11863260 20100804_snps_10998732_chr16_69366217 2.11e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69366287A>G;NM_022341.1:c.-1814T>C 339355192 142429347 20100804_snps_10998733_chr16_69366287 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69366337T>G;NM_022341.1:c.-1864A>C 227304475 115766933 pilot_1_YRI_9114158_chr16_67923838 6.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 64146 NC_000016.9:g.69366343G>A;NM_022341.1:c.-1870C>T 227304476 116149374 pilot_1_YRI_9114159_chr16_67923844 1.40e-03 2010.04.22 2010.04.22 2010.07.14 2012.11.28 137 1000GENOMES 64146 NC_000016.9:g.69366480_69366481insTC;NM_022341.1:c.-2008_-2007insGA 328199924 147136928 YRI_chr16_67923981_indel 7.30e-03 2011.03.13 2011.04.03 2011.05.09 2012.11.28 137 1000GENOMES 64146 ARRAY(0x589f9150) 499127200 147136928 20110316_indels_chr16_69366480_69366481 7.30e-03 2012.03.19 2012.03.19 2011.05.09 2012.11.28 137 # Report date: 2013.2.9, Gene: PDF (64146), ss count: 242, rs count: 84.