# 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 142680 335876516 149181335 20100804_snps_7520057_chr9_140123224 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 327644816 140675684 YRI_chr9_139243085_indel 2011.03.12 2011.04.03 2011.05.09 2011.09.09 132 DEVINE_LAB 142680 102567396 59816380 INDEL_GP36_2008a_2675351_0 2008.05.18 2008.05.18 2007.12.15 2011.07.08 132 HGSV 142680 79831829 59816380 Cor18507_DIV_20070510.chr9_137399101-137399104_1 2007.11.23 2007.11.23 2007.12.15 2011.07.08 132 1000GENOMES 142680 335876518 138915839 20100804_snps_7520059_chr9_140123289 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 NM_001190228.1:c.240G>A;NG_017008.1:g.3099G>A;NM_001190228.1:c.240G>A;NT_024000.16:g.906310G>A 241751538 79018577 pilot_1_CHB+JPT_3636615_chr9_139243128 6.86e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 142680 335876519 142018750 20100804_snps_7520060_chr9_140123346 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 335876520 146312790 20100804_snps_7520061_chr9_140123391 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BUSHMAN 142680 NM_001190228.1:c.353G>A;NG_017008.1:g.3212G>A;NP_001177157.1:p.Arg118Gln;NM_001190228.1:c.353G>A;NT_024000.16:g.906423G>A;NP_001177157.1:p.Arg118Gln 201014880 113732689 BUSHMAN-chr9-139243240 2010.03.07 2010.03.07 2010.07.04 2011.09.09 132 1000GENOMES 142680 NM_001190228.1:c.410G>A;NG_017008.1:g.3269G>A;NP_001177157.1:p.Arg137Lys;NM_001190228.1:c.410G>A;NT_024000.16:g.906480G>A;NP_001177157.1:p.Arg137Lys 224509130 73671307 pilot_1_YRI_6318813_chr9_139243298 1.55e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 132 ILLUMINA-UK 142680 NM_001190228.1:c.410G>A;NG_017008.1:g.3269G>A;NP_001177157.1:p.Arg137Lys;NM_001190228.1:c.410G>A;NT_024000.16:g.906480G>A;NP_001177157.1:p.Arg137Lys 115817659 73671307 NA18507_000147989_NCBI36.1_chr9_139243298 1.55e-02 2009.01.16 2009.01.16 2009.02.14 2011.09.09 132 1000GENOMES 142680 NM_001190228.1:c.449C>A;NT_024000.16:g.906519C>A;NP_001177157.1:p.Pro150His 210875034 116391417 YRI.trio.3.2010_917824_chr9_139243337 3.66e-03 2010.03.29 2010.03.29 2010.07.14 2011.10.06 132 1000GENOMES 142680 NM_001190228.1:c.449C>A;NT_024000.16:g.906519C>A;NP_001177157.1:p.Pro150His 461373379 116391417 20101123_snps_7540609_chr9_140123516 3.66e-03 2011.07.20 2011.07.20 2010.07.14 2011.10.06 132 1000GENOMES 142680 NM_001190228.1:c.468C>G;NG_017008.1:g.3327C>G;NM_001190228.1:c.468C>G;NT_024000.16:g.906538C>G 241751539 80009402 pilot_1_CHB+JPT_3636616_chr9_139243356 2.15e-02 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 ILLUMINA 142680 NM_001190228.1:c.*46C>T;NG_017008.1:g.3376C>T;NM_001190228.1:c.*46C>T;NT_024000.16:g.906587C>T 123288380 75832110 HumanCNV370v1_C_rs9722860 2009.04.15 2009.04.15 2009.12.01 2011.09.09 132 ILLUMINA 142680 NM_001190228.1:c.*46C>T;NG_017008.1:g.3376C>T;NM_001190228.1:c.*46C>T;NT_024000.16:g.906587C>T 154507701 75832110 Human610_Quadv1_B_rs9722860-128_B_R_1514291852 2009.06.20 2009.06.20 2009.12.01 2011.09.09 132 ILLUMINA 142680 NM_001190228.1:c.*46C>T;NG_017008.1:g.3376C>T;NM_001190228.1:c.*46C>T;NT_024000.16:g.906587C>T 172495885 75832110 HumanCNV370-Quadv3_C_rs9722860-128_B_R_1514291852 2009.10.02 2009.10.04 2009.12.01 2011.09.09 132 ILLUMINA 142680 NM_001190228.1:c.*46C>T;NG_017008.1:g.3376C>T;NM_001190228.1:c.*46C>T;NT_024000.16:g.906587C>T 174891307 75832110 Human1M-Duov3_B_rs9722860-128_B_R_1514291852 2009.10.05 2009.10.05 2009.12.01 2011.09.09 132 1000GENOMES 142680 335876521 138184780 20100804_snps_7520062_chr9_140123648 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 461373380 186785444 20101123_snps_7540610_chr9_140123656 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NM_001190228.1:c.*196G>A;NT_024000.16:g.906737G>A 224509131 114074604 pilot_1_YRI_6318814_chr9_139243555 3.66e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 142680 461373381 191231866 20101123_snps_7540611_chr9_140123752 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 BUSHMAN 142680 NM_001190228.1:c.*274A>C;NG_017008.1:g.3604A>C;NM_001190228.1:c.*274A>C;NT_024000.16:g.906815A>C 201014884 111388752 BUSHMAN-chr9-139243632 2010.03.07 2010.03.07 2010.07.04 2011.09.09 132 1000GENOMES 142680 461373382 182747265 20101123_snps_7540612_chr9_140123835 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 335876523 150785285 20100804_snps_7520064_chr9_140123928 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 335876524 139151610 20100804_snps_7520065_chr9_140123934 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 461373383 186656766 20101123_snps_7540613_chr9_140123939 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 335876525 149941736 20100804_snps_7520066_chr9_140123953 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 461373384 191559288 20101123_snps_7540614_chr9_140124123 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 461373385 183300483 20101123_snps_7540615_chr9_140124150 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 ILLUMINA 142680 NG_017008.1:g.3984G>A;NT_024000.16:g.907195G>A 75230336 28673394 ILMN_Human_1M_rs28673394 2007.08.29 2007.08.29 2005.05.24 2011.09.09 132 ILLUMINA 142680 NG_017008.1:g.3984G>A;NT_024000.16:g.907195G>A 160592539 28673394 HumanOmni1-Quad_v1-0_B_rs28673394-128_T_F_1514175008 2009.08.06 2009.10.03 2005.05.24 2011.09.09 132 ILLUMINA 142680 NG_017008.1:g.3984G>A;NT_024000.16:g.907195G>A 173512970 28673394 Human1M-Duov3_B_rs28673394-128_T_F_1514175008 2009.10.03 2009.10.03 2005.05.24 2011.09.09 132 KRIBB_YJKIM 142680 NG_017008.1:g.3984G>A;NT_024000.16:g.907195G>A 119904789 28673394 KHS1910402 2009.02.05 2009.02.05 2005.05.24 2011.09.09 132 SSAHASNP 142680 NG_017008.1:g.3984G>A;NT_024000.16:g.907195G>A 35463509 28673394 TA-079.chr9_137400029 2005.03.11 2005.05.24 2011.09.09 132 ILLUMINA 142680 NG_017008.1:g.3994C>T;NT_024000.16:g.907205C>T 75014314 9721582 ILMN_Human_1M_rs9721582 2007.08.29 2007.08.29 2003.12.05 2011.09.09 132 ILLUMINA 142680 NG_017008.1:g.3994C>T;NT_024000.16:g.907205C>T 174891263 9721582 Human1M-Duov3_B_rs9721582-128_T_F_1513984917 2009.10.05 2009.10.05 2003.12.05 2011.09.09 132 KRIBB_YJKIM 142680 NG_017008.1:g.3994C>T;NT_024000.16:g.907205C>T 119599931 9721582 KHS1762178 2009.02.05 2009.02.05 2003.12.05 2011.09.09 132 SC_JCM 142680 NG_017008.1:g.3994C>T;NT_024000.16:g.907205C>T 13530555 9721582 chr9.NT_078081.2_5917 2003.10.31 2003.11.07 2003.12.05 2011.09.09 132 1000GENOMES 142680 NG_017008.1:g.4032G>C;NT_024000.16:g.907243G>C 235010022 78459648 pilot_1_CEU_4614651_chr9_139244061 3.20e-03 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 142680 461373386 189246618 20101123_snps_7540616_chr9_140124260 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NT_024000.16:g.907329G>A 224509133 115839721 pilot_1_YRI_6318816_chr9_139244147 5.94e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 142680 335876526 144036027 20100804_snps_7520067_chr9_140124407 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 335876527 140427009 20100804_snps_7520068_chr9_140124423 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 461373387 192886067 20101123_snps_7540617_chr9_140124478 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 335876528 144287700 20100804_snps_7520069_chr9_140124588 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 461373388 185123904 20101123_snps_7540618_chr9_140124637 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NT_024000.16:g.907660C>T 224509134 116180779 pilot_1_YRI_6318817_chr9_139244478 2.93e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 132 1000GENOMES 142680 NT_024000.16:g.907660C>T 241751540 116180779 pilot_1_CHB+JPT_3636617_chr9_139244478 2.93e-02 2010.05.01 2010.05.01 2010.07.14 2011.09.09 132 1000GENOMES 142680 461373389 190005362 20101123_snps_7540619_chr9_140124673 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 335876530 141092369 20100804_snps_7520071_chr9_140124780 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 335876531 142980891 20100804_snps_7520072_chr9_140124797 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 335876532 151127924 20100804_snps_7520073_chr9_140124965 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 109142453 9777338 CEU.trio.12.15.2008_2272254_chr9_139245172 3.15e-01 2008.12.16 2008.12.16 2003.12.05 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 115211889 9777338 NA19240_2008_12_16_2054454_chr9_139245172 3.15e-01 2008.12.19 2008.12.19 2003.12.05 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 224509136 9777338 pilot_1_YRI_6318819_chr9_139245172 3.15e-01 2010.04.22 2010.04.22 2003.12.05 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 235010023 9777338 pilot_1_CEU_4614652_chr9_139245172 3.15e-01 2010.05.01 2010.05.01 2003.12.05 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 241751541 9777338 pilot_1_CHB+JPT_3636618_chr9_139245172 3.15e-01 2010.05.01 2010.05.01 2003.12.05 2011.09.09 132 BCM-HGSC-SUB 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 206917882 9777338 BCM_CMT_1011-1928175 3.15e-01 2010.03.18 2010.03.18 2003.12.05 2011.09.09 132 BCMHGSC_JDW 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 94202228 9777338 JWB-2661651 3.15e-01 2008.03.06 2008.03.06 2003.12.05 2011.09.09 132 BCM_SSAHASNP 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 13596404 9777338 chr9.NT_078081.2_4768 3.15e-01 2003.11.05 2003.11.22 2003.12.05 2011.09.09 132 BGI 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 104662517 9777338 BGI_rs9777338 3.15e-01 2008.06.09 2009.06.18 2003.12.05 2011.09.09 132 BL 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 254644611 9777338 SNP132760_9_139245172 3.15e-01 2010.08.19 2010.08.19 2003.12.05 2011.09.09 132 BUSHMAN 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 201014888 9777338 BUSHMAN-chr9-139245171 3.15e-01 2010.03.07 2010.03.07 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 165079395 9777338 NA07022_36_chr9_139245172 3.15e-01 2009.09.30 2009.09.30 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 165912958 9777338 NA19240_36_chr9_139245172 3.15e-01 2009.09.30 2009.09.30 2003.12.05 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 167066082 9777338 NA20431_36_chr9_139245172 3.15e-01 2009.09.30 2009.09.30 2003.12.05 2011.09.09 132 ENSEMBL 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 134206034 9777338 ENSSNP2950489 3.15e-01 2009.05.13 2009.10.15 2003.12.05 2011.09.09 132 ENSEMBL 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 144409917 9777338 ENSSNP13735609 3.15e-01 2009.06.06 2009.06.06 2003.12.05 2011.09.09 132 GMI 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 158069882 9777338 GMI_SNP_69736217 3.15e-01 2009.06.25 2009.06.25 2003.12.05 2011.09.09 132 HGSV 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 80666794 9777338 Cor18507_SNV_20070510.chr9_137401188 3.15e-01 2007.11.26 2007.11.26 2003.12.05 2011.09.09 132 HGSV 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 85970155 9777338 Cor19129_SNV_20070510.chr9_137401188 3.15e-01 2007.12.10 2007.12.10 2003.12.05 2011.09.09 132 HUMANGENOME_JCVI 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 97757226 9777338 1103652207636 3.15e-01 2008.03.30 2008.03.30 2003.12.05 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 161010851 9777338 HumanOmni1-Quad_v1-0_B_rs9777338-128_T_R_1574682518 3.15e-01 2009.08.07 2009.10.05 2003.12.05 2011.09.09 132 ILLUMINA-UK 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 115817660 9777338 NA18507_000147990_NCBI36.1_chr9_139245172 3.15e-01 2009.01.16 2009.01.16 2003.12.05 2011.09.09 132 PJP 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 294392193 9777338 SNP_3898551_chr9_139245172 3.15e-01 2011.01.21 2011.01.21 2003.12.05 2011.09.09 132 SC_SNP 142680 NM_001177316.1:c.-79G>A;NT_024000.16:g.908354G>A;NM_001177317.1:c.-82G>A;NG_017008.1:g.5143G>A;NM_001177317.1:c.-82G>A;NT_024000.16:g.908354G>A 16160954 9777338 NT_078081.2_4768 3.15e-01 2003.11.18 2003.11.22 2003.12.05 2011.09.09 132 HUMANGENOME_JCVI 142680 NM_001177316.1:c.-40+359C>T;NT_024000.16:g.908752C>T;NM_001177317.1:c.-43+359C>T;NG_017008.1:g.5541C>T;NM_001177317.1:c.-43+359C>T;NT_024000.16:g.908752C>T;NM_080877.2:c.-40+218C>T;NT_024000.16:g.908752C>T 97837866 71508902 1103652207634 2008.03.30 2008.03.30 2009.02.13 2011.09.09 132 1000GENOMES 142680 335876533 141097884 20100804_snps_7520074_chr9_140126100 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 461373390 191571581 20101123_snps_7540620_chr9_140126106 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 142680 342290379 144208635 ESP2500-chr9-140126193 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290380 146559846 ESP2500-chr9-140126218 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 335876535 146842743 20100804_snps_7520076_chr9_140126357 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.86-120C>T;NT_024000.16:g.909407C>T;NM_001177317.1:c.86-120C>T;NG_017008.1:g.6196C>T;NM_001177317.1:c.86-120C>T;NT_024000.16:g.909407C>T;NM_080877.2:c.86-120C>T;NT_024000.16:g.909407C>T 165079408 112695368 NA07022_36_chr9_139246225 2009.09.30 2009.09.30 2010.07.04 2011.10.06 132 MPI_MOLGEN 142680 NM_001177316.1:c.86-120C>T;NT_024000.16:g.909407C>T;NM_001177317.1:c.86-120C>T;NG_017008.1:g.6196C>T;NM_001177317.1:c.86-120C>T;NT_024000.16:g.909407C>T;NM_080877.2:c.86-120C>T;NT_024000.16:g.909407C>T 469195403 112695368 Chromosome9_139246225 2011.08.15 2011.08.15 2010.07.04 2011.10.06 132 1000GENOMES 142680 461373391 184057038 20101123_snps_7540621_chr9_140126456 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 327198327 147996946 JPTCHB_chr9_139246317_indel 2011.03.12 2011.04.02 2011.05.09 2011.09.09 132 NHLBI-ESP 142680 342290381 140180447 ESP2500-chr9-140126606 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 461373392 188103616 20101123_snps_7540622_chr9_140126699 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NM_001177316.1:c.175+123C>T;NT_024000.16:g.909739C>T;NM_001177317.1:c.175+123C>T;NG_017008.1:g.6528C>T;NM_001177317.1:c.175+123C>T;NT_024000.16:g.909739C>T;NM_080877.2:c.175+123C>T;NT_024000.16:g.909739C>T 335876536 111532084 20100804_snps_7520077_chr9_140126736 1.42e-02 2011.03.22 2011.03.22 2010.07.04 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.175+123C>T;NT_024000.16:g.909739C>T;NM_001177317.1:c.175+123C>T;NG_017008.1:g.6528C>T;NM_001177317.1:c.175+123C>T;NT_024000.16:g.909739C>T;NM_080877.2:c.175+123C>T;NT_024000.16:g.909739C>T 165079421 111532084 NA07022_36_chr9_139246557 1.42e-02 2009.09.30 2009.09.30 2010.07.04 2011.09.09 132 ENSEMBL 142680 NM_001177316.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_001177317.1:c.175+131G>T;NG_017008.1:g.6536G>T;NM_001177317.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_080877.2:c.175+131G>T;NT_024000.16:g.909747G>T 161704728 28371983 ENSSNP2950490 2009.09.25 2009.09.25 2005.05.24 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_001177317.1:c.175+131G>T;NG_017008.1:g.6536G>T;NM_001177317.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_080877.2:c.175+131G>T;NT_024000.16:g.909747G>T 75009499 28371983 ILMN_Human_1M_rs28371983 2007.08.29 2007.08.29 2005.05.24 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_001177317.1:c.175+131G>T;NG_017008.1:g.6536G>T;NM_001177317.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_080877.2:c.175+131G>T;NT_024000.16:g.909747G>T 160586179 28371983 HumanOmni1-Quad_v1-0_B_rs28371983-128_T_R_1513971586 2009.08.06 2009.10.03 2005.05.24 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_001177317.1:c.175+131G>T;NG_017008.1:g.6536G>T;NM_001177317.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_080877.2:c.175+131G>T;NT_024000.16:g.909747G>T 173489334 28371983 Human1M-Duov3_B_rs28371983-128_T_R_1513971586 2009.10.03 2009.10.03 2005.05.24 2011.09.09 132 KRIBB_YJKIM 142680 NM_001177316.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_001177317.1:c.175+131G>T;NG_017008.1:g.6536G>T;NM_001177317.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_080877.2:c.175+131G>T;NT_024000.16:g.909747G>T 119898970 28371983 KHS1907109 2009.02.05 2009.02.05 2005.05.24 2011.09.09 132 SSAHASNP 142680 NM_001177316.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_001177317.1:c.175+131G>T;NG_017008.1:g.6536G>T;NM_001177317.1:c.175+131G>T;NT_024000.16:g.909747G>T;NM_080877.2:c.175+131G>T;NT_024000.16:g.909747G>T 35099662 28371983 TA-079.chr9_137402581 2005.03.11 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.175+185A>G;NT_024000.16:g.909801A>G;NM_001177317.1:c.175+185A>G;NG_017008.1:g.6590A>G;NM_001177317.1:c.175+185A>G;NT_024000.16:g.909801A>G;NM_080877.2:c.175+185A>G;NT_024000.16:g.909801A>G 241751542 112848350 pilot_1_CHB+JPT_3636619_chr9_139246619 6.44e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 132 BUSHMAN 142680 NM_001177316.1:c.175+185A>G;NT_024000.16:g.909801A>G;NM_001177317.1:c.175+185A>G;NG_017008.1:g.6590A>G;NM_001177317.1:c.175+185A>G;NT_024000.16:g.909801A>G;NM_080877.2:c.175+185A>G;NT_024000.16:g.909801A>G 201014892 112848350 BUSHMAN-chr9-139246618 6.44e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.176-103C>G;NT_024000.16:g.909927C>G;NM_001177317.1:c.176-103C>G;NG_017008.1:g.6716C>G;NM_001177317.1:c.176-103C>G;NT_024000.16:g.909927C>G;NM_080877.2:c.176-103C>G;NT_024000.16:g.909927C>G 109142457 72763302 CEU.trio.12.15.2008_2272255_chr9_139246745 3.88e-02 2008.12.16 2008.12.16 2009.02.14 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.176-103C>G;NT_024000.16:g.909927C>G;NM_001177317.1:c.176-103C>G;NG_017008.1:g.6716C>G;NM_001177317.1:c.176-103C>G;NT_024000.16:g.909927C>G;NM_080877.2:c.176-103C>G;NT_024000.16:g.909927C>G 235010024 72763302 pilot_1_CEU_4614653_chr9_139246745 3.88e-02 2010.05.01 2010.05.01 2009.02.14 2011.07.08 132 NHLBI-ESP 142680 342290382 143930538 ESP2500-chr9-140127041 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170787.1:p.Arg67His;NM_001177317.1:c.200G>A;NG_017008.1:g.6843G>A;NP_001170788.1:p.Arg67His;NM_001177317.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170788.1:p.Arg67His;NM_080877.2:c.200G>A;NT_024000.16:g.910054G>A;NP_543153.1:p.Arg67His 241751543 34372115 pilot_1_CHB+JPT_3636620_chr9_139246872 1.04e-01 2010.05.01 2010.05.01 2006.03.14 2011.07.08 132 BGI 142680 NM_001177316.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170787.1:p.Arg67His;NM_001177317.1:c.200G>A;NG_017008.1:g.6843G>A;NP_001170788.1:p.Arg67His;NM_001177317.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170788.1:p.Arg67His;NM_080877.2:c.200G>A;NT_024000.16:g.910054G>A;NP_543153.1:p.Arg67His 104662518 34372115 BGI_rs34372115 1.04e-01 2008.06.09 2009.06.18 2006.03.14 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170787.1:p.Arg67His;NM_001177317.1:c.200G>A;NG_017008.1:g.6843G>A;NP_001170788.1:p.Arg67His;NM_001177317.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170788.1:p.Arg67His;NM_080877.2:c.200G>A;NT_024000.16:g.910054G>A;NP_543153.1:p.Arg67His 48531127 34372115 SLC34A3-200G_A 1.04e-01 2005.10.03 2006.11.03 2006.03.14 2011.07.08 132 HGSV 142680 NM_001177316.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170787.1:p.Arg67His;NM_001177317.1:c.200G>A;NG_017008.1:g.6843G>A;NP_001170788.1:p.Arg67His;NM_001177317.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170788.1:p.Arg67His;NM_080877.2:c.200G>A;NT_024000.16:g.910054G>A;NP_543153.1:p.Arg67His 83781397 34372115 Cor18956_SNV_20070510.chr9_137402888 1.04e-01 2007.12.05 2007.12.05 2006.03.14 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170787.1:p.Arg67His;NM_001177317.1:c.200G>A;NG_017008.1:g.6843G>A;NP_001170788.1:p.Arg67His;NM_001177317.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170788.1:p.Arg67His;NM_080877.2:c.200G>A;NT_024000.16:g.910054G>A;NP_543153.1:p.Arg67His 342290383 34372115 ESP2500-chr9-140127051 1.04e-01 2011.03.26 2011.03.26 2006.03.14 2011.07.08 132 SEATTLESEQ 142680 NM_001177316.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170787.1:p.Arg67His;NM_001177317.1:c.200G>A;NG_017008.1:g.6843G>A;NP_001170788.1:p.Arg67His;NM_001177317.1:c.200G>A;NT_024000.16:g.910054G>A;NP_001170788.1:p.Arg67His;NM_080877.2:c.200G>A;NT_024000.16:g.910054G>A;NP_543153.1:p.Arg67His 159719784 34372115 SLC34A3-139246872 1.04e-01 2009.07.10 2009.07.10 2006.03.14 2011.07.08 132 GSFIHG 142680 48531128 34710159 SLC34A3-204C_T 2005.10.03 2006.11.03 2006.03.14 2011.07.08 132 NHLBI-ESP 142680 342290384 140559114 ESP2500-chr9-140127055 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 335876537 145677050 20100804_snps_7520078_chr9_140127124 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290385 145677050 ESP2500-chr9-140127124 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 335876538 138218664 20100804_snps_7520079_chr9_140127183 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 142680 342290386 144952285 ESP2500-chr9-140127237 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290387 142106801 ESP2500-chr9-140127247 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.321C>T;NT_024000.16:g.910255C>T;NM_001177317.1:c.321C>T;NT_024000.16:g.910255C>T;NM_080877.2:c.321C>T;NT_024000.16:g.910255C>T 224509137 114286327 pilot_1_YRI_6318820_chr9_139247073 9.14e-04 2010.04.22 2010.04.22 2010.07.14 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.321C>T;NT_024000.16:g.910255C>T;NM_001177317.1:c.321C>T;NT_024000.16:g.910255C>T;NM_080877.2:c.321C>T;NT_024000.16:g.910255C>T 342290388 114286327 ESP2500-chr9-140127252 9.14e-04 2011.03.26 2011.03.26 2010.07.14 2011.07.08 132 NHLBI-ESP 142680 342290389 138683772 ESP2500-chr9-140127267 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290390 142873841 ESP2500-chr9-140127306 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.391C>T;NT_024000.16:g.910325C>T;NM_001177317.1:c.391C>T;NT_024000.16:g.910325C>T;NM_080877.2:c.391C>T;NT_024000.16:g.910325C>T 224509138 114724831 pilot_1_YRI_6318821_chr9_139247143 5.94e-03 2010.04.22 2010.04.22 2010.07.14 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.391C>T;NT_024000.16:g.910325C>T;NM_001177317.1:c.391C>T;NT_024000.16:g.910325C>T;NM_080877.2:c.391C>T;NT_024000.16:g.910325C>T 342290391 114724831 ESP2500-chr9-140127322 5.94e-03 2011.03.26 2011.03.26 2010.07.14 2011.07.08 132 NHLBI-ESP 142680 342290392 148026048 ESP2500-chr9-140127342 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290393 141734934 ESP2500-chr9-140127344 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290394 150841256 ESP2500-chr9-140127380 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290395 139302994 ESP2500-chr9-140127465 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.477C>T;NT_024000.16:g.910487C>T;NM_001177317.1:c.477C>T;NT_024000.16:g.910487C>T;NM_080877.2:c.477C>T;NT_024000.16:g.910487C>T 224509139 116743582 pilot_1_YRI_6318822_chr9_139247305 5.03e-03 2010.04.22 2010.04.22 2010.07.14 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.477C>T;NT_024000.16:g.910487C>T;NM_001177317.1:c.477C>T;NT_024000.16:g.910487C>T;NM_080877.2:c.477C>T;NT_024000.16:g.910487C>T 342290396 116743582 ESP2500-chr9-140127484 5.03e-03 2011.03.26 2011.03.26 2010.07.14 2011.07.08 132 1000GENOMES 142680 461373393 146054276 20101123_snps_7540623_chr9_140127500 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 142680 342290397 146054276 ESP2500-chr9-140127500 2011.03.26 2011.03.26 2011.05.09 2011.10.06 132 1000GENOMES 142680 NM_001177316.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170787.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NG_017008.1:g.7338G>C;NP_001170788.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170788.1:p.Gly180Ala;NM_080877.2:c.539G>C;NT_024000.16:g.910549G>C;NP_543153.1:p.Gly180Ala 335876539 35643193 20100804_snps_7520080_chr9_140127546 7.31e-03 2011.03.22 2011.03.22 2006.03.15 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170787.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NG_017008.1:g.7338G>C;NP_001170788.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170788.1:p.Gly180Ala;NM_080877.2:c.539G>C;NT_024000.16:g.910549G>C;NP_543153.1:p.Gly180Ala 48531129 35643193 SLC34A3-539G_C 7.31e-03 2005.10.03 2006.11.03 2006.03.15 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170787.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NG_017008.1:g.7338G>C;NP_001170788.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170788.1:p.Gly180Ala;NM_080877.2:c.539G>C;NT_024000.16:g.910549G>C;NP_543153.1:p.Gly180Ala 160628147 35643193 HumanOmni1-Quad_v1-0_B_rs35643193-128_T_F_1562534399 7.31e-03 2009.08.06 2009.10.04 2006.03.15 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170787.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NG_017008.1:g.7338G>C;NP_001170788.1:p.Gly180Ala;NM_001177317.1:c.539G>C;NT_024000.16:g.910549G>C;NP_001170788.1:p.Gly180Ala;NM_080877.2:c.539G>C;NT_024000.16:g.910549G>C;NP_543153.1:p.Gly180Ala 342290398 35643193 ESP2500-chr9-140127546 7.31e-03 2011.03.26 2011.03.26 2006.03.15 2011.07.08 132 BUSHMAN 142680 NM_001177316.1:c.578C>T;NT_024000.16:g.910681C>T;NP_001170787.1:p.Ala193Val;NM_001177317.1:c.578C>T;NG_017008.1:g.7470C>T;NP_001170788.1:p.Ala193Val;NM_001177317.1:c.578C>T;NT_024000.16:g.910681C>T;NP_001170788.1:p.Ala193Val;NM_080877.2:c.578C>T;NT_024000.16:g.910681C>T;NP_543153.1:p.Ala193Val 201014896 113422427 BUSHMAN-chr9-139247498 2010.03.07 2010.03.07 2010.07.04 2011.09.09 132 OMIM-CURATED-RECORDS 142680 NM_001177317.1:c.586G>A 275517719 121918237 16582 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.07.08 132 1000GENOMES 142680 461373394 186209011 20101123_snps_7540624_chr9_140127712 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 GSFIHG 142680 NM_001177316.1:c.625C>T;NT_024000.16:g.910728C>T;NM_001177317.1:c.625C>T;NG_017008.1:g.7517C>T;NM_001177317.1:c.625C>T;NT_024000.16:g.910728C>T;NM_080877.2:c.625C>T;NT_024000.16:g.910728C>T 48531130 34796681 SLC34A3-652C_T 2005.10.03 2006.11.03 2006.03.14 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.625C>T;NT_024000.16:g.910728C>T;NM_001177317.1:c.625C>T;NG_017008.1:g.7517C>T;NM_001177317.1:c.625C>T;NT_024000.16:g.910728C>T;NM_080877.2:c.625C>T;NT_024000.16:g.910728C>T 74983140 34796681 ILMN_Human_1M_rs34796681 2007.08.29 2007.08.29 2006.03.14 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.625C>T;NT_024000.16:g.910728C>T;NM_001177317.1:c.625C>T;NG_017008.1:g.7517C>T;NM_001177317.1:c.625C>T;NT_024000.16:g.910728C>T;NM_080877.2:c.625C>T;NT_024000.16:g.910728C>T 160623643 34796681 HumanOmni1-Quad_v1-0_B_rs34796681-128_B_F_1513974730 2009.08.06 2009.10.04 2006.03.14 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.625C>T;NT_024000.16:g.910728C>T;NM_001177317.1:c.625C>T;NG_017008.1:g.7517C>T;NM_001177317.1:c.625C>T;NT_024000.16:g.910728C>T;NM_080877.2:c.625C>T;NT_024000.16:g.910728C>T 173593278 34796681 Human1M-Duov3_B_rs34796681-128_B_F_1513974730 2009.10.04 2009.10.04 2006.03.14 2011.07.08 132 KRIBB_YJKIM 142680 NM_001177316.1:c.625C>T;NT_024000.16:g.910728C>T;NM_001177317.1:c.625C>T;NG_017008.1:g.7517C>T;NM_001177317.1:c.625C>T;NT_024000.16:g.910728C>T;NM_080877.2:c.625C>T;NT_024000.16:g.910728C>T 119912898 34796681 KHS1914667 2009.02.05 2009.02.05 2006.03.14 2011.07.08 132 NHLBI-ESP 142680 342290399 143867268 ESP2500-chr9-140127805 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290400 145877051 ESP2500-chr9-140127809 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 142680 NP_001170788.1:p.GLN252GLN 275517721 121918239 16585 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_001177317.1:c.756+9G>A;NG_017008.1:g.7657G>A;NM_001177317.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_080877.2:c.756+9G>A;NT_024000.16:g.910868G>A 241751544 4076685 pilot_1_CHB+JPT_3636621_chr9_139247686 2.70e-02 2010.05.01 2010.05.01 2002.10.10 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_001177317.1:c.756+9G>A;NG_017008.1:g.7657G>A;NM_001177317.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_080877.2:c.756+9G>A;NT_024000.16:g.910868G>A 74861098 4076685 ILMN_Human_1M_rs4076685 2.70e-02 2007.08.29 2007.08.29 2002.10.10 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_001177317.1:c.756+9G>A;NG_017008.1:g.7657G>A;NM_001177317.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_080877.2:c.756+9G>A;NT_024000.16:g.910868G>A 173684165 4076685 Human1M-Duov3_B_rs4076685-128_T_R_1513903087 2.70e-02 2009.10.04 2009.10.04 2002.10.10 2011.09.09 132 KRIBB_YJKIM 142680 NM_001177316.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_001177317.1:c.756+9G>A;NG_017008.1:g.7657G>A;NM_001177317.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_080877.2:c.756+9G>A;NT_024000.16:g.910868G>A 119469907 4076685 KHS1632154 2.70e-02 2009.02.04 2009.02.04 2002.10.10 2011.09.09 132 TSC-CSHL 142680 NM_001177316.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_001177317.1:c.756+9G>A;NG_017008.1:g.7657G>A;NM_001177317.1:c.756+9G>A;NT_024000.16:g.910868G>A;NM_080877.2:c.756+9G>A;NT_024000.16:g.910868G>A 5456184 4076685 TSC0204987 2.70e-02 2002.09.21 2003.10.10 2002.10.10 2011.09.09 132 1000GENOMES 142680 335876540 143232467 20100804_snps_7520081_chr9_140128015 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 109142462 28407527 CEU.trio.12.15.2008_2272256_chr9_139247906 4.73e-01 2008.12.16 2008.12.16 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 115211897 28407527 NA19240_2008_12_16_2054455_chr9_139247906 4.73e-01 2008.12.19 2008.12.19 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 224509140 28407527 pilot_1_YRI_6318823_chr9_139247906 4.73e-01 2010.04.22 2010.04.22 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 235010025 28407527 pilot_1_CEU_4614654_chr9_139247906 4.73e-01 2010.05.01 2010.05.01 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 241751545 28407527 pilot_1_CHB+JPT_3636622_chr9_139247906 4.73e-01 2010.05.01 2010.05.01 2005.05.24 2011.07.08 132 BCMHGSC_JDW 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 94202232 28407527 JWB-2661652 4.73e-01 2008.03.06 2008.03.06 2005.05.24 2011.07.08 132 BL 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 254644617 28407527 SNP132761_9_139247906 4.73e-01 2010.08.19 2010.08.19 2005.05.24 2011.07.08 132 BUSHMAN 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 201014900 28407527 BUSHMAN-chr9-139247905 4.73e-01 2010.03.07 2010.03.07 2005.05.24 2011.07.08 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 165079434 28407527 NA07022_36_chr9_139247906 4.73e-01 2009.09.30 2009.09.30 2005.05.24 2011.07.08 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 165912962 28407527 NA19240_36_chr9_139247906 4.73e-01 2009.09.30 2009.09.30 2005.05.24 2011.07.08 132 ENSEMBL 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 143859652 28407527 ENSSNP5412889 4.73e-01 2009.06.06 2009.10.17 2005.05.24 2011.07.08 132 ENSEMBL 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 144409919 28407527 ENSSNP13735610 4.73e-01 2009.06.06 2009.06.06 2005.05.24 2011.07.08 132 GMI 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 158069889 28407527 GMI_SNP_32380501 4.73e-01 2009.06.25 2009.06.25 2005.05.24 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 48531131 28407527 SLC34A3-757T_C 4.73e-01 2005.10.03 2006.11.03 2005.05.24 2011.07.08 132 HUMANGENOME_JCVI 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 97757227 28407527 1103652207638 4.73e-01 2008.03.30 2008.03.30 2005.05.24 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 74994307 28407527 ILMN_Human_1M_rs28407527 4.73e-01 2007.08.29 2007.08.29 2005.05.24 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 160587495 28407527 HumanOmni1-Quad_v1-0_B_rs28407527-128_T_R_1513971729 4.73e-01 2009.08.06 2009.10.03 2005.05.24 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 173494856 28407527 Human1M-Duov3_B_rs28407527-128_T_R_1513971729 4.73e-01 2009.10.03 2009.10.03 2005.05.24 2011.07.08 132 KRIBB_YJKIM 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 119900192 28407527 KHS1907802 4.73e-01 2009.02.05 2009.02.05 2005.05.24 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 342290401 28407527 ESP2500-chr9-140128085 4.73e-01 2011.03.26 2011.03.26 2005.05.24 2011.07.08 132 PJP 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 294392194 28407527 SNP_3898552_chr9_139247906 4.73e-01 2011.01.21 2011.01.21 2005.05.24 2011.07.08 132 SEATTLESEQ 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 159719785 28407527 SLC34A3-139247906 4.73e-01 2009.07.10 2009.07.10 2005.05.24 2011.07.08 132 SSAHASNP 142680 NM_001177316.1:c.757T>C;NT_024000.16:g.911088T>C;NM_001177317.1:c.757T>C;NG_017008.1:g.7877T>C;NM_001177317.1:c.757T>C;NT_024000.16:g.911088T>C;NM_080877.2:c.757T>C;NT_024000.16:g.911088T>C 35107900 28407527 TA-079.chr9_137403922 4.73e-01 2005.03.11 2005.05.24 2011.07.08 132 1000GENOMES 142680 461373395 190460130 20101123_snps_7540625_chr9_140128088 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 142680 342290402 142918575 ESP2500-chr9-140128107 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 335876541 148072630 20100804_snps_7520082_chr9_140128118 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290403 148072630 ESP2500-chr9-140128118 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290404 142040264 ESP2500-chr9-140128123 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290405 145899150 ESP2500-chr9-140128127 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 335876542 141775305 20100804_snps_7520083_chr9_140128156 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290406 141775305 ESP2500-chr9-140128156 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290407 150570831 ESP2500-chr9-140128164 2011.03.26 2011.03.26 2011.05.09 2011.09.09 132 NHLBI-ESP 142680 342290408 150363315 ESP2500-chr9-140128173 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 142680 NM_001177317.1:c.846G>A 275517718 121918236 16580 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.942G>C;NT_024000.16:g.911580G>C;NM_001177317.1:c.942G>C;NG_017008.1:g.8369G>C;NM_001177317.1:c.942G>C;NT_024000.16:g.911580G>C;NM_080877.2:c.942G>C;NT_024000.16:g.911580G>C 335876544 34664302 20100804_snps_7520085_chr9_140128577 2.29e-02 2011.03.22 2011.03.22 2006.03.14 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.942G>C;NT_024000.16:g.911580G>C;NM_001177317.1:c.942G>C;NG_017008.1:g.8369G>C;NM_001177317.1:c.942G>C;NT_024000.16:g.911580G>C;NM_080877.2:c.942G>C;NT_024000.16:g.911580G>C 48531133 34664302 SLC34A3-942G_C 2.29e-02 2005.10.03 2006.11.03 2006.03.14 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.942G>C;NT_024000.16:g.911580G>C;NM_001177317.1:c.942G>C;NG_017008.1:g.8369G>C;NM_001177317.1:c.942G>C;NT_024000.16:g.911580G>C;NM_080877.2:c.942G>C;NT_024000.16:g.911580G>C 342290409 34664302 ESP2500-chr9-140128577 2.29e-02 2011.03.26 2011.03.26 2006.03.14 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 241751546 35699762 pilot_1_CHB+JPT_3636623_chr9_139248465 2.56e-02 2010.05.01 2010.05.01 2006.03.15 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 48531134 35699762 SLC34A3-1009G_A 2.56e-02 2005.10.03 2006.11.03 2006.03.15 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 74967921 35699762 ILMN_Human_1M_rs35699762 2.56e-02 2007.08.29 2007.08.29 2006.03.15 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 160628427 35699762 HumanOmni1-Quad_v1-0_B_rs35699762-128_B_R_1513938225 2.56e-02 2009.08.06 2009.10.04 2006.03.15 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 173603888 35699762 Human1M-Duov3_B_rs35699762-128_B_R_1513938225 2.56e-02 2009.10.04 2009.10.04 2006.03.15 2011.07.08 132 KRIBB_YJKIM 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 119918225 35699762 KHS1917290 2.56e-02 2009.02.06 2009.02.06 2006.03.15 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 342290410 35699762 ESP2500-chr9-140128644 2.56e-02 2011.03.26 2011.03.26 2006.03.15 2011.07.08 132 SEATTLESEQ 142680 NM_001177316.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170787.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NG_017008.1:g.8436G>A;NP_001170788.1:p.Gly337Ser;NM_001177317.1:c.1009G>A;NT_024000.16:g.911647G>A;NP_001170788.1:p.Gly337Ser;NM_080877.2:c.1009G>A;NT_024000.16:g.911647G>A;NP_543153.1:p.Gly337Ser 159719786 35699762 SLC34A3-139248465 2.56e-02 2009.07.10 2009.07.10 2006.03.15 2011.07.08 132 NHLBI-ESP 142680 342290411 121918234 ESP2500-chr9-140128693 Germline probable-pathogenic 2011.03.26 2011.03.26 2010.12.03 2011.07.08 132 OMIM-CURATED-RECORDS 142680 NP_001170788.1:p.ARG353LEU 275517716 121918234 16578 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.07.08 132 NHLBI-ESP 142680 342290412 138702939 ESP2500-chr9-140128698 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290413 142839759 ESP2500-chr9-140128706 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290414 146097023 ESP2500-chr9-140128709 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 461373396 182126379 20101123_snps_7540626_chr9_140128728 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NM_001177316.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_001177317.1:c.1094-10T>A;NG_017008.1:g.8650T>A;NM_001177317.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_080877.2:c.1094-10T>A;NT_024000.16:g.911861T>A 224509143 35535797 pilot_1_YRI_6318826_chr9_139248679 1.32e-01 2010.04.22 2010.04.22 2006.03.15 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_001177317.1:c.1094-10T>A;NG_017008.1:g.8650T>A;NM_001177317.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_080877.2:c.1094-10T>A;NT_024000.16:g.911861T>A 235010026 35535797 pilot_1_CEU_4614655_chr9_139248679 1.32e-01 2010.05.01 2010.05.01 2006.03.15 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_001177317.1:c.1094-10T>A;NG_017008.1:g.8650T>A;NM_001177317.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_080877.2:c.1094-10T>A;NT_024000.16:g.911861T>A 241751547 35535797 pilot_1_CHB+JPT_3636624_chr9_139248679 1.32e-01 2010.05.01 2010.05.01 2006.03.15 2011.07.08 132 BCM-HGSC-SUB 142680 NM_001177316.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_001177317.1:c.1094-10T>A;NG_017008.1:g.8650T>A;NM_001177317.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_080877.2:c.1094-10T>A;NT_024000.16:g.911861T>A 206923173 35535797 BCM_CMT_1011-1929991 1.32e-01 2010.03.18 2010.03.18 2006.03.15 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_001177317.1:c.1094-10T>A;NG_017008.1:g.8650T>A;NM_001177317.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_080877.2:c.1094-10T>A;NT_024000.16:g.911861T>A 48531132 35535797 SLC34A3-1094-10T_A 1.32e-01 2005.10.03 2006.11.03 2006.03.15 2011.07.08 132 ILLUMINA 142680 NM_001177316.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_001177317.1:c.1094-10T>A;NG_017008.1:g.8650T>A;NM_001177317.1:c.1094-10T>A;NT_024000.16:g.911861T>A;NM_080877.2:c.1094-10T>A;NT_024000.16:g.911861T>A 160627578 35535797 HumanOmni1-Quad_v1-0_B_rs35535797-128_B_R_1575144973 1.32e-01 2009.08.06 2009.10.04 2006.03.15 2011.07.08 132 BCM-HGSC-SUB 142680 NM_001177316.1:c.1140C>T;NT_024000.16:g.911917C>T;NM_001177317.1:c.1140C>T;NG_017008.1:g.8706C>T;NM_001177317.1:c.1140C>T;NT_024000.16:g.911917C>T;NM_080877.2:c.1140C>T;NT_024000.16:g.911917C>T 206944830 113568956 BCM_CMT_1011-1937333 2010.03.18 2010.03.18 2010.07.04 2011.07.08 132 NHLBI-ESP 142680 342290415 138798032 ESP2500-chr9-140128961 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290416 141417134 ESP2500-chr9-140128962 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290417 150835225 ESP2500-chr9-140128964 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290418 139408872 ESP2500-chr9-140129065 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 142680 NP_001170788.1:p.ALA413GLU 275517717 121918235 16579 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.07.08 132 NHLBI-ESP 142680 342290419 150068634 ESP2500-chr9-140129087 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290420 144329336 ESP2500-chr9-140129116 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290421 140934919 ESP2500-chr9-140129160 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 461373397 144275345 20101123_snps_7540627_chr9_140129174 2011.07.20 2011.07.20 2011.05.09 2011.10.06 132 NHLBI-ESP 142680 342290422 144275345 ESP2500-chr9-140129174 2011.03.26 2011.03.26 2011.05.09 2011.10.06 132 NHLBI-ESP 142680 342290423 147797886 ESP2500-chr9-140129175 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1335+6G>T;NT_024000.16:g.912192G>T;NM_001177317.1:c.1335+6G>T;NT_024000.16:g.912192G>T;NM_080877.2:c.1335+6G>T;NT_024000.16:g.912192G>T 241751548 117115558 pilot_1_CHB+JPT_3636625_chr9_139249010 4.57e-04 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1335+140C>T;NT_024000.16:g.912326C>T;NM_001177317.1:c.1335+140C>T;NG_017008.1:g.9115C>T;NM_001177317.1:c.1335+140C>T;NT_024000.16:g.912326C>T;NM_080877.2:c.1335+140C>T;NT_024000.16:g.912326C>T 235010027 77377925 pilot_1_CEU_4614656_chr9_139249144 5.48e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1335+140C>T;NT_024000.16:g.912326C>T;NM_001177317.1:c.1335+140C>T;NG_017008.1:g.9115C>T;NM_001177317.1:c.1335+140C>T;NT_024000.16:g.912326C>T;NM_080877.2:c.1335+140C>T;NT_024000.16:g.912326C>T 241751549 77377925 pilot_1_CHB+JPT_3636626_chr9_139249144 5.48e-02 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 BUSHMAN 142680 NM_001177316.1:c.1335+140C>T;NT_024000.16:g.912326C>T;NM_001177317.1:c.1335+140C>T;NG_017008.1:g.9115C>T;NM_001177317.1:c.1335+140C>T;NT_024000.16:g.912326C>T;NM_080877.2:c.1335+140C>T;NT_024000.16:g.912326C>T 201014904 77377925 BUSHMAN-chr9-139249143 5.48e-02 2010.03.07 2010.03.07 2009.12.01 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_001177317.1:c.1335+267C>G;NG_017008.1:g.9242C>G;NM_001177317.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_080877.2:c.1335+267C>G;NT_024000.16:g.912453C>G 224509144 80295920 pilot_1_YRI_6318827_chr9_139249271 1.81e-01 2010.04.22 2010.04.22 2009.12.01 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_001177317.1:c.1335+267C>G;NG_017008.1:g.9242C>G;NM_001177317.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_080877.2:c.1335+267C>G;NT_024000.16:g.912453C>G 235010028 80295920 pilot_1_CEU_4614657_chr9_139249271 1.81e-01 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_001177317.1:c.1335+267C>G;NG_017008.1:g.9242C>G;NM_001177317.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_080877.2:c.1335+267C>G;NT_024000.16:g.912453C>G 241751550 80295920 pilot_1_CHB+JPT_3636627_chr9_139249271 1.81e-01 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 BCM-HGSC-SUB 142680 NM_001177316.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_001177317.1:c.1335+267C>G;NG_017008.1:g.9242C>G;NM_001177317.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_080877.2:c.1335+267C>G;NT_024000.16:g.912453C>G 206925540 80295920 BCM_CMT_1011-1930806 1.81e-01 2010.03.18 2010.03.18 2009.12.01 2011.07.08 132 BGI 142680 NM_001177316.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_001177317.1:c.1335+267C>G;NG_017008.1:g.9242C>G;NM_001177317.1:c.1335+267C>G;NT_024000.16:g.912453C>G;NM_080877.2:c.1335+267C>G;NT_024000.16:g.912453C>G 104662519 80295920 BGI_YHSNP0385999 1.81e-01 2008.06.09 2009.06.18 2009.12.01 2011.07.08 132 1000GENOMES 142680 335876545 142762451 20100804_snps_7520086_chr9_140129746 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 461373398 191640325 20101123_snps_7540628_chr9_140129762 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NM_001177316.1:c.1335+597C>T;NT_024000.16:g.912783C>T;NM_001177317.1:c.1335+597C>T;NG_017008.1:g.9572C>T;NM_001177317.1:c.1335+597C>T;NT_024000.16:g.912783C>T;NM_080877.2:c.1335+597C>T;NT_024000.16:g.912783C>T 115211905 73565732 NA19240_2008_12_16_2054456_chr9_139249601 5.94e-03 2008.12.19 2008.12.19 2009.02.14 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1335+597C>T;NT_024000.16:g.912783C>T;NM_001177317.1:c.1335+597C>T;NG_017008.1:g.9572C>T;NM_001177317.1:c.1335+597C>T;NT_024000.16:g.912783C>T;NM_080877.2:c.1335+597C>T;NT_024000.16:g.912783C>T 224509145 73565732 pilot_1_YRI_6318828_chr9_139249601 5.94e-03 2010.04.22 2010.04.22 2009.02.14 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.1335+597C>T;NT_024000.16:g.912783C>T;NM_001177317.1:c.1335+597C>T;NG_017008.1:g.9572C>T;NM_001177317.1:c.1335+597C>T;NT_024000.16:g.912783C>T;NM_080877.2:c.1335+597C>T;NT_024000.16:g.912783C>T 165912966 73565732 NA19240_36_chr9_139249601 5.94e-03 2009.09.30 2009.09.30 2009.02.14 2011.09.09 132 1000GENOMES 142680 461373399 182613405 20101123_snps_7540629_chr9_140129814 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NM_001177316.1:c.1336-587G>A;NT_024000.16:g.912820G>A;NM_001177317.1:c.1336-587G>A;NG_017008.1:g.9609G>A;NM_001177317.1:c.1336-587G>A;NT_024000.16:g.912820G>A;NM_080877.2:c.1336-587G>A;NT_024000.16:g.912820G>A 224509146 73671308 pilot_1_YRI_6318829_chr9_139249638 7.31e-03 2010.04.22 2010.04.22 2009.02.14 2011.09.09 132 ILLUMINA-UK 142680 NM_001177316.1:c.1336-587G>A;NT_024000.16:g.912820G>A;NM_001177317.1:c.1336-587G>A;NG_017008.1:g.9609G>A;NM_001177317.1:c.1336-587G>A;NT_024000.16:g.912820G>A;NM_080877.2:c.1336-587G>A;NT_024000.16:g.912820G>A 115817661 73671308 NA18507_000147991_NCBI36.1_chr9_139249638 7.31e-03 2009.01.16 2009.01.16 2009.02.14 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 109142466 28368709 CEU.trio.12.15.2008_2272257_chr9_139249676 2.15e-02 2008.12.16 2008.12.16 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 115211913 28368709 NA19240_2008_12_16_2054457_chr9_139249676 2.15e-02 2008.12.19 2008.12.19 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 235010029 28368709 pilot_1_CEU_4614658_chr9_139249676 2.15e-02 2010.05.01 2010.05.01 2005.05.24 2011.09.09 132 BCM-HGSC-SUB 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 206822075 28368709 BCM_CMT_1011-1895869 2.15e-02 2010.03.18 2010.03.18 2005.05.24 2011.09.09 132 BCMHGSC_JDW 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 94202236 28368709 JWB-2661653 2.15e-02 2008.03.06 2008.03.06 2005.05.24 2011.09.09 132 BGI 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 105708827 28368709 BGI_rs28368709 2.15e-02 2008.09.11 2009.06.18 2005.05.24 2011.09.09 132 BL 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 254644621 28368709 SNP132762_9_139249676 2.15e-02 2010.08.19 2010.08.19 2005.05.24 2011.09.09 132 BUSHMAN 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 201014908 28368709 BUSHMAN-chr9-139249675 2.15e-02 2010.03.07 2010.03.07 2005.05.24 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 165079448 28368709 NA07022_36_chr9_139249676 2.15e-02 2009.09.30 2009.09.30 2005.05.24 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 165912972 28368709 NA19240_36_chr9_139249676 2.15e-02 2009.09.30 2009.09.30 2005.05.24 2011.09.09 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 167066093 28368709 NA20431_36_chr9_139249676 2.15e-02 2009.09.30 2009.09.30 2005.05.24 2011.09.09 132 ENSEMBL 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 134206030 28368709 ENSSNP2950492 2.15e-02 2009.05.13 2009.10.15 2005.05.24 2011.09.09 132 ENSEMBL 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 144409921 28368709 ENSSNP13735611 2.15e-02 2009.06.06 2009.06.06 2005.05.24 2011.09.09 132 GMI 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 158069894 28368709 GMI_SNP_130859832 2.15e-02 2009.06.25 2009.06.25 2005.05.24 2011.09.09 132 HGSV 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 78694588 28368709 Cor18507_SNV_20070510.chr9_137405692 2.15e-02 2007.10.20 2007.10.20 2005.05.24 2011.09.09 132 HUMANGENOME_JCVI 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 97757228 28368709 1103652207639 2.15e-02 2008.03.30 2008.03.30 2005.05.24 2011.09.09 132 ILLUMINA-UK 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 115817662 28368709 NA18507_000147992_NCBI36.1_chr9_139249676 2.15e-02 2009.01.16 2009.01.16 2005.05.24 2011.09.09 132 PJP 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 294392195 28368709 SNP_3898553_chr9_139249676 2.15e-02 2011.01.21 2011.01.21 2005.05.24 2011.09.09 132 SSAHASNP 142680 NM_001177316.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_001177317.1:c.1336-549G>C;NG_017008.1:g.9647G>C;NM_001177317.1:c.1336-549G>C;NT_024000.16:g.912858G>C;NM_080877.2:c.1336-549G>C;NT_024000.16:g.912858G>C 35092698 28368709 TA-079.chr9_137405692 2.15e-02 2005.03.11 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_001177317.1:c.1336-514C>T;NG_017008.1:g.9682C>T;NM_001177317.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_080877.2:c.1336-514C>T;NT_024000.16:g.912893C>T 224509147 75445215 pilot_1_YRI_6318830_chr9_139249711 1.81e-01 2010.04.22 2010.04.22 2009.12.01 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_001177317.1:c.1336-514C>T;NG_017008.1:g.9682C>T;NM_001177317.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_080877.2:c.1336-514C>T;NT_024000.16:g.912893C>T 235010030 75445215 pilot_1_CEU_4614659_chr9_139249711 1.81e-01 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_001177317.1:c.1336-514C>T;NG_017008.1:g.9682C>T;NM_001177317.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_080877.2:c.1336-514C>T;NT_024000.16:g.912893C>T 241751551 75445215 pilot_1_CHB+JPT_3636628_chr9_139249711 1.81e-01 2010.05.01 2010.05.01 2009.12.01 2011.09.09 132 BCM-HGSC-SUB 142680 NM_001177316.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_001177317.1:c.1336-514C>T;NG_017008.1:g.9682C>T;NM_001177317.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_080877.2:c.1336-514C>T;NT_024000.16:g.912893C>T 206862702 75445215 BCM_CMT_1011-1909641 1.81e-01 2010.03.18 2010.03.18 2009.12.01 2011.09.09 132 BGI 142680 NM_001177316.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_001177317.1:c.1336-514C>T;NG_017008.1:g.9682C>T;NM_001177317.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_080877.2:c.1336-514C>T;NT_024000.16:g.912893C>T 104662520 75445215 BGI_YHSNP0386000 1.81e-01 2008.06.09 2009.06.18 2009.12.01 2011.09.09 132 BUSHMAN 142680 NM_001177316.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_001177317.1:c.1336-514C>T;NG_017008.1:g.9682C>T;NM_001177317.1:c.1336-514C>T;NT_024000.16:g.912893C>T;NM_080877.2:c.1336-514C>T;NT_024000.16:g.912893C>T 201014912 75445215 BUSHMAN-chr9-139249710 1.81e-01 2010.03.07 2010.03.07 2009.12.01 2011.09.09 132 BUSHMAN 142680 NM_001177316.1:c.1336-226G>A;NT_024000.16:g.913181G>A;NM_001177317.1:c.1336-226G>A;NG_017008.1:g.9970G>A;NM_001177317.1:c.1336-226G>A;NT_024000.16:g.913181G>A;NM_080877.2:c.1336-226G>A;NT_024000.16:g.913181G>A 201014916 111648966 BUSHMAN-chr9-139249998 2010.03.07 2010.03.07 2010.07.04 2011.07.08 132 1000GENOMES 142680 335876546 147368324 20100804_snps_7520087_chr9_140130211 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 109142469 28434439 CEU.trio.12.15.2008_2272258_chr9_139250082 2.65e-01 2008.12.16 2008.12.16 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 115211921 28434439 NA19240_2008_12_16_2054458_chr9_139250082 2.65e-01 2008.12.19 2008.12.19 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 224509148 28434439 pilot_1_YRI_6318831_chr9_139250082 2.65e-01 2010.04.22 2010.04.22 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 235010031 28434439 pilot_1_CEU_4614660_chr9_139250082 2.65e-01 2010.05.01 2010.05.01 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 241751552 28434439 pilot_1_CHB+JPT_3636629_chr9_139250082 2.65e-01 2010.05.01 2010.05.01 2005.05.24 2011.09.09 132 BGI 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 104662521 28434439 BGI_rs28434439 2.65e-01 2008.06.09 2009.06.18 2005.05.24 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 75016684 28434439 ILMN_Human_1M_rs28434439 2.65e-01 2007.08.29 2007.08.29 2005.05.24 2011.09.09 132 ILLUMINA 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 173496965 28434439 Human1M-Duov3_B_rs28434439-128_T_R_1513971821 2.65e-01 2009.10.03 2009.10.03 2005.05.24 2011.09.09 132 ILLUMINA-UK 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 115817663 28434439 NA18507_000147993_NCBI36.1_chr9_139250082 2.65e-01 2009.01.16 2009.01.16 2005.05.24 2011.09.09 132 KRIBB_YJKIM 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 119900705 28434439 KHS1908090 2.65e-01 2009.02.05 2009.02.05 2005.05.24 2011.09.09 132 SSAHASNP 142680 NM_001177316.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_001177317.1:c.1336-143T>C;NG_017008.1:g.10053T>C;NM_001177317.1:c.1336-143T>C;NT_024000.16:g.913264T>C;NM_080877.2:c.1336-143T>C;NT_024000.16:g.913264T>C 35159754 28434439 TA-079.chr9_137406098 2.65e-01 2005.03.11 2005.05.24 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.1336-135G>A;NT_024000.16:g.913272G>A;NM_001177317.1:c.1336-135G>A;NT_024000.16:g.913272G>A;NM_080877.2:c.1336-135G>A;NT_024000.16:g.913272G>A 241751553 116863920 pilot_1_CHB+JPT_3636630_chr9_139250090 4.57e-04 2010.05.01 2010.05.01 2010.07.15 2011.09.09 132 1000GENOMES 142680 335876547 139551195 20100804_snps_7520088_chr9_140130285 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 BUSHMAN 142680 NM_001177316.1:c.1336-64G>A;NT_024000.16:g.913343G>A;NM_001177317.1:c.1336-64G>A;NG_017008.1:g.10132G>A;NM_001177317.1:c.1336-64G>A;NT_024000.16:g.913343G>A;NM_080877.2:c.1336-64G>A;NT_024000.16:g.913343G>A 201014920 112406019 BUSHMAN-chr9-139250160 2010.03.07 2010.03.07 2010.07.04 2011.07.08 132 1000GENOMES 142680 461373400 185808314 20101123_snps_7540630_chr9_140130343 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 335876548 149891463 20100804_snps_7520089_chr9_140130345 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 HUMANGENOME_JCVI 142680 NM_001177316.1:c.1336-11_1336-10insC;NT_024000.16:g.913396_913397insC;NM_001177317.1:c.1336-11_1336-10insC;NG_017008.1:g.10185_10186insC;NM_001177317.1:c.1336-11_1336-10insC;NT_024000.16:g.913396_913397insC;NM_080877.2:c.1336-11_1336-10insC;NT_024000.16:g.913396_913397insC 95529620 71387810 1104685183609 2008.03.22 2008.12.03 2009.02.13 2011.07.08 132 1000GENOMES 142680 335876549 144883291 20100804_snps_7520090_chr9_140130396 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 142680 342290424 141078166 ESP2500-chr9-140130436 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290425 142507276 ESP2500-chr9-140130459 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 461373401 189834458 20101123_snps_7540631_chr9_140130463 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 142680 342290426 150944375 ESP2500-chr9-140130466 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 OMIM-CURATED-RECORDS 142680 NP_001170788.1:p.ARG468TRP 275517720 121918238 16583 Germline probable-pathogenic 2010.12.03 2010.12.03 2010.12.03 2011.07.08 132 NHLBI-ESP 142680 342290427 140872244 ESP2500-chr9-140130493 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290428 150176604 ESP2500-chr9-140130499 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290429 138643794 ESP2500-chr9-140130511 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290430 140353447 ESP2500-chr9-140130518 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290431 145029982 ESP2500-chr9-140130521 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290432 138872455 ESP2500-chr9-140130522 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290433 149389629 ESP2500-chr9-140130530 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290434 144666114 ESP2500-chr9-140130532 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290435 148095831 ESP2500-chr9-140130541 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290436 141979585 ESP2500-chr9-140130542 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1482C>T;NT_024000.16:g.913553C>T;NM_001177317.1:c.1482C>T;NG_017008.1:g.10342C>T;NM_001177317.1:c.1482C>T;NT_024000.16:g.913553C>T;NM_080877.2:c.1482C>T;NT_024000.16:g.913553C>T 335876550 28510663 20100804_snps_7520091_chr9_140130550 2.74e-03 2011.03.22 2011.03.22 2005.05.24 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.1482C>T;NT_024000.16:g.913553C>T;NM_001177317.1:c.1482C>T;NG_017008.1:g.10342C>T;NM_001177317.1:c.1482C>T;NT_024000.16:g.913553C>T;NM_080877.2:c.1482C>T;NT_024000.16:g.913553C>T 342290437 28510663 ESP2500-chr9-140130550 2.74e-03 2011.03.26 2011.03.26 2005.05.24 2011.07.08 132 SSAHASNP 142680 NM_001177316.1:c.1482C>T;NT_024000.16:g.913553C>T;NM_001177317.1:c.1482C>T;NG_017008.1:g.10342C>T;NM_001177317.1:c.1482C>T;NT_024000.16:g.913553C>T;NM_080877.2:c.1482C>T;NT_024000.16:g.913553C>T 35255783 28510663 TA-079.chr9_137406387 2.74e-03 2005.03.11 2005.05.24 2011.07.08 132 NHLBI-ESP 142680 342290438 140869490 ESP2500-chr9-140130552 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 335876552 146854507 20100804_snps_7520093_chr9_140130580 2011.03.22 2011.03.22 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290439 146854507 ESP2500-chr9-140130580 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 210875037 28542318 YRI.trio.3.2010_917825_chr9_139250427 6.95e-02 2010.03.29 2010.03.29 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 224509149 28542318 pilot_1_YRI_6318832_chr9_139250427 6.95e-02 2010.04.22 2010.04.22 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 235010032 28542318 pilot_1_CEU_4614661_chr9_139250427 6.95e-02 2010.05.01 2010.05.01 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 241751554 28542318 pilot_1_CHB+JPT_3636631_chr9_139250427 6.95e-02 2010.05.01 2010.05.01 2005.05.24 2011.07.08 132 BCMHGSC_JDW 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 94202240 28542318 JWB-2661654 6.95e-02 2008.03.06 2008.03.06 2005.05.24 2011.07.08 132 BL 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 254644628 28542318 SNP132763_9_139250427 6.95e-02 2010.08.19 2010.08.19 2005.05.24 2011.07.08 132 BUSHMAN 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 201014924 28542318 BUSHMAN-chr9-139250426 6.95e-02 2010.03.07 2010.03.07 2005.05.24 2011.07.08 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 165079461 28542318 NA07022_36_chr9_139250427 6.95e-02 2009.09.30 2009.09.30 2005.05.24 2011.07.08 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 165912977 28542318 NA19240_36_chr9_139250427 6.95e-02 2009.09.30 2009.09.30 2005.05.24 2011.07.08 132 ENSEMBL 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 134206028 28542318 ENSSNP2950493 6.95e-02 2009.05.13 2009.10.15 2005.05.24 2011.07.08 132 ENSEMBL 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 144409923 28542318 ENSSNP13735612 6.95e-02 2009.06.06 2009.06.06 2005.05.24 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 48531135 28542318 SLC34A3-1538T_A 6.95e-02 2005.10.03 2006.11.03 2005.05.24 2011.07.08 132 HGSV 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 85435308 28542318 Cor19129_SNV_20070510.chr9_137406443 6.95e-02 2007.12.09 2007.12.09 2005.05.24 2011.07.08 132 HUMANGENOME_JCVI 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 97757229 28542318 1103652207644 6.95e-02 2008.03.30 2008.03.30 2005.05.24 2011.07.08 132 NHLBI-ESP 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 342290440 28542318 ESP2500-chr9-140130606 6.95e-02 2011.03.26 2011.03.26 2005.05.24 2011.07.08 132 PJP 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 294392196 28542318 SNP_3898554_chr9_139250427 6.95e-02 2011.01.21 2011.01.21 2005.05.24 2011.07.08 132 SEATTLESEQ 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 159719787 28542318 SLC34A3-139250427 6.95e-02 2009.07.10 2009.07.10 2005.05.24 2011.07.08 132 SSAHASNP 142680 NM_001177316.1:c.1538T>A;NT_024000.16:g.913609A>T;NP_001170787.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NG_017008.1:g.10398T>A;NP_001170788.1:p.Val513Glu;NM_001177317.1:c.1538T>A;NT_024000.16:g.913609A>T;NM_080877.2:c.1538T>A;NT_024000.16:g.913609A>T;NP_543153.1:p.Val513Glu 35278056 28542318 TA-079.chr9_137406443 6.95e-02 2005.03.11 2005.05.24 2011.07.08 132 NHLBI-ESP 142680 342290441 139559169 ESP2500-chr9-140130619 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290442 149912630 ESP2500-chr9-140130632 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 461373402 182451910 20101123_snps_7540632_chr9_140130634 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 NHLBI-ESP 142680 342290443 140639805 ESP2500-chr9-140130653 2011.03.26 2011.03.26 2011.05.09 2011.09.09 132 NHLBI-ESP 142680 342290444 149037416 ESP2500-chr9-140130668 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290445 142206230 ESP2500-chr9-140130674 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290446 146757110 ESP2500-chr9-140130678 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 NHLBI-ESP 142680 342290447 140319849 ESP2500-chr9-140130680 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 335876554 145700867 20100804_snps_7520095_chr9_140130681 2011.03.22 2011.03.22 2011.05.09 2011.09.09 132 NHLBI-ESP 142680 342290448 145449011 ESP2500-chr9-140130688 2011.03.26 2011.03.26 2011.05.09 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.1795T>C;NT_024000.16:g.913866T>C;NM_001177317.1:c.1795T>C;NT_024000.16:g.913866T>C;NM_080877.2:c.1795T>C;NT_024000.16:g.913866T>C 224509150 74842953 pilot_1_YRI_6318833_chr9_139250684 2.88e-02 2010.04.22 2010.04.22 2009.12.01 2011.09.09 132 SEATTLESEQ 142680 NM_001177316.1:c.1795T>C;NT_024000.16:g.913866T>C;NM_001177317.1:c.1795T>C;NT_024000.16:g.913866T>C;NM_080877.2:c.1795T>C;NT_024000.16:g.913866T>C 159719788 74842953 SLC34A3-139250684 2.88e-02 2009.07.10 2009.07.10 2009.12.01 2011.09.09 132 1000GENOMES 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 210750286 28591989 CEU.trio.3.2010_99858_chr9_139250703 3.01e-01 2010.03.29 2010.03.29 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 224509151 28591989 pilot_1_YRI_6318834_chr9_139250703 3.01e-01 2010.04.22 2010.04.22 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 235010033 28591989 pilot_1_CEU_4614662_chr9_139250703 3.01e-01 2010.05.01 2010.05.01 2005.05.24 2011.07.08 132 1000GENOMES 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 241751555 28591989 pilot_1_CHB+JPT_3636632_chr9_139250703 3.01e-01 2010.05.01 2010.05.01 2005.05.24 2011.07.08 132 BCMHGSC_JDW 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 94202241 28591989 JWB-2661655 3.01e-01 2008.03.06 2008.03.06 2005.05.24 2011.07.08 132 BUSHMAN 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 201014928 28591989 BUSHMAN-chr9-139250702 3.01e-01 2010.03.07 2010.03.07 2005.05.24 2011.07.08 132 COMPLETE_GENOMICS 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 165079473 28591989 NA07022_36_chr9_139250703 3.01e-01 2009.09.30 2009.09.30 2005.05.24 2011.07.08 132 ENSEMBL 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 144409925 28591989 ENSSNP7079349 3.01e-01 2009.06.06 2009.06.06 2005.05.24 2011.07.08 132 ENSEMBL 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 161704732 28591989 ENSSNP2950494 3.01e-01 2009.09.25 2009.09.25 2005.05.24 2011.07.08 132 GSFIHG 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 48531136 28591989 SLC34A3-1800_14A_C 3.01e-01 2005.10.03 2006.11.03 2005.05.24 2011.07.08 132 SSAHASNP 142680 NM_001177316.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_001177317.1:c.*14A>C;NG_017008.1:g.10674A>C;NM_001177317.1:c.*14A>C;NT_024000.16:g.913885A>C;NM_080877.2:c.*14A>C;NT_024000.16:g.913885A>C 35360340 28591989 TA-079.chr9_137406719 3.01e-01 2005.03.11 2005.05.24 2011.07.08 132 1000GENOMES 142680 NG_017008.1:g.10837G>T;NT_024000.16:g.914048G>T 235010035 78065081 pilot_1_CEU_4614664_chr9_139250866 9.14e-04 2010.05.01 2010.05.01 2009.12.01 2011.07.08 132 1000GENOMES 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 210875040 28584969 YRI.trio.3.2010_917826_chr9_139251094 3.47e-01 2010.03.29 2010.03.29 2005.05.24 2011.09.09 132 1000GENOMES 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 224509152 28584969 pilot_1_YRI_6318835_chr9_139251094 3.47e-01 2010.04.22 2010.04.22 2005.05.24 2011.09.09 132 1000GENOMES 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 235010036 28584969 pilot_1_CEU_4614665_chr9_139251094 3.47e-01 2010.05.01 2010.05.01 2005.05.24 2011.09.09 132 1000GENOMES 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 241751556 28584969 pilot_1_CHB+JPT_3636633_chr9_139251094 3.47e-01 2010.05.01 2010.05.01 2005.05.24 2011.09.09 132 BCMHGSC_JDW 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 94202245 28584969 JWB-2661656 3.47e-01 2008.03.06 2008.03.06 2005.05.24 2011.09.09 132 BUSHMAN 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 201014932 28584969 BUSHMAN-chr9-139251093 3.47e-01 2010.03.07 2010.03.07 2005.05.24 2011.09.09 132 COMPLETE_GENOMICS 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 165079487 28584969 NA07022_36_chr9_139251094 3.47e-01 2009.09.30 2009.09.30 2005.05.24 2011.09.09 132 ENSEMBL 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 144409927 28584969 ENSSNP13735614 3.47e-01 2009.06.06 2009.06.06 2005.05.24 2011.09.09 132 PJP 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 294392197 28584969 SNP_3898555_chr9_139251094 3.47e-01 2011.01.21 2011.01.21 2005.05.24 2011.09.09 132 SSAHASNP 142680 NG_017008.1:g.11065T>C;NT_024000.16:g.914276T>C 35327113 28584969 TA-079.chr9_137407110 3.47e-01 2005.03.11 2005.05.24 2011.09.09 132 1000GENOMES 142680 461373403 187629428 20101123_snps_7540633_chr9_140131463 2011.07.20 2011.07.20 2011.09.17 2011.10.06 132 1000GENOMES 142680 NG_017008.1:g.11296G>A;NT_024000.16:g.914507G>A 224509153 111720602 pilot_1_YRI_6318836_chr9_139251325 5.39e-02 2010.04.22 2010.04.22 2010.07.04 2011.09.09 132 1000GENOMES 142680 NG_017008.1:g.11296G>A;NT_024000.16:g.914507G>A 235010037 111720602 pilot_1_CEU_4614666_chr9_139251325 5.39e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 132 1000GENOMES 142680 NG_017008.1:g.11296G>A;NT_024000.16:g.914507G>A 241751557 111720602 pilot_1_CHB+JPT_3636634_chr9_139251325 5.39e-02 2010.05.01 2010.05.01 2010.07.04 2011.09.09 132 BUSHMAN 142680 NG_017008.1:g.11296G>A;NT_024000.16:g.914507G>A 201014936 111720602 BUSHMAN-chr9-139251324 5.39e-02 2010.03.07 2010.03.07 2010.07.04 2011.09.09 132 # Report date: 2012.1.24, Gene: SLC34A3 (142680), ss count: 359, rs count: 167.