# 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 393 NC_000023.10:g.153172386C>T;NG_013220.1:g.24329G>A;NM_001164741.1:c.*797G>A;NM_001666.4:c.*797G>A 467026471 184401408 20101123_snps_13193701_chrX_153172386 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153172439G>A;NG_013220.1:g.24276C>T;NM_001164741.1:c.*744C>T;NM_001666.4:c.*744C>T 115335769 73627263 NA19240_2008_12_16_3585607_chrX_152825633 2.23e-02 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153172439G>A;NG_013220.1:g.24276C>T;NM_001164741.1:c.*744C>T;NM_001666.4:c.*744C>T 165815045 73627263 NA19240_36_chrX_152825633 2.23e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153172439G>A;NG_013220.1:g.24276C>T;NM_001164741.1:c.*744C>T;NM_001666.4:c.*744C>T 341907739 73627263 20100804_snps_659410_chrX_153172439 2.23e-02 2011.03.25 2011.03.25 2009.02.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153172512G>T;NG_013220.1:g.24203C>A;NM_001164741.1:c.*671C>A;NM_001666.4:c.*671C>A 467026472 189700496 20101123_snps_13193702_chrX_153172512 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153172608C>T;NG_013220.1:g.24107G>A;NM_001164741.1:c.*575G>A;NM_001666.4:c.*575G>A 467026473 181175285 20101123_snps_13193703_chrX_153172608 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153172701C>A;NG_013220.1:g.24014G>T;NM_001164741.1:c.*482G>T;NM_001666.4:c.*482G>T 467026474 186155399 20101123_snps_13193704_chrX_153172701 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153172770G>C;NG_013220.1:g.23945C>G;NM_001164741.1:c.*413C>G;NM_001666.4:c.*413C>G 467026475 190467157 20101123_snps_13193705_chrX_153172770 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ILLUMINA 393 NC_000023.10:g.153172831C>G;NC_000023.10:g.153172831C>T;NG_013220.1:g.23884G>A;NG_013220.1:g.23884G>C;NM_001164741.1:c.*352G>A;NM_001164741.1:c.*352G>C;NM_001666.4:c.*352G>A;NM_001666.4:c.*352G>C 168930295 113332267 Human1M-Duov3_B_GA008424-0_T_R_1533429273 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 393 NC_000023.10:g.153172831C>G;NC_000023.10:g.153172831C>T;NG_013220.1:g.23884G>A;NG_013220.1:g.23884G>C;NM_001164741.1:c.*352G>A;NM_001164741.1:c.*352G>C;NM_001666.4:c.*352G>A;NM_001666.4:c.*352G>C 204403542 113332267 BUSHMAN-chrX-152826024 2010.03.10 2010.03.10 2010.07.04 2012.05.16 137 1000GENOMES 393 NC_000023.10:g.153172861G>A;NG_013220.1:g.23854C>T;NM_001164741.1:c.*322C>T;NM_001666.4:c.*322C>T 467026476 181925621 20101123_snps_13193706_chrX_153172861 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCMHGSC_JDW 393 NC_000023.10:g.153172959T>A;NG_013220.1:g.23756A>T;NM_001164741.1:c.*224A>T;NM_001666.4:c.*224A>T 94439722 62620964 JWB-3319853 1.87e-02 2008.03.06 2008.03.06 2008.03.25 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153172959T>A;NG_013220.1:g.23756A>T;NM_001164741.1:c.*224A>T;NM_001666.4:c.*224A>T 341907740 62620964 20100804_snps_659411_chrX_153172959 1.87e-02 2011.03.25 2011.03.25 2008.03.25 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153172998C>T;NG_013220.1:g.23717G>A;NM_001164741.1:c.*185G>A;NM_001666.4:c.*185G>A 115335781 73627265 NA19240_2008_12_16_3585608_chrX_152826192 1.45e-02 2008.12.19 2008.12.19 2009.02.14 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153172998C>T;NG_013220.1:g.23717G>A;NM_001164741.1:c.*185G>A;NM_001666.4:c.*185G>A 115668825 73627265 NA18507_000086229_NCBI36.1_chrX_152826192 1.45e-02 2009.01.15 2009.01.15 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153172998C>T;NG_013220.1:g.23717G>A;NM_001164741.1:c.*185G>A;NM_001666.4:c.*185G>A 165815053 73627265 NA19240_36_chrX_152826192 1.45e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153172998C>T;NG_013220.1:g.23717G>A;NM_001164741.1:c.*185G>A;NM_001666.4:c.*185G>A 341907741 73627265 20100804_snps_659412_chrX_153172998 1.45e-02 2011.03.25 2011.03.25 2009.02.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173186G>A;NG_013220.1:g.23529C>T;NM_001164741.1:c.2958C>T;NM_001666.4:c.2838C>T;NP_001158213.1:p.His986=;NP_001657.3:p.His946= 489234701 200228262 20110521_exome_290548_chrX_153173186 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173202G>A;NG_013220.1:g.23513C>T;NM_001164741.1:c.2942C>T;NM_001666.4:c.2822C>T;NP_001158213.1:p.Thr981Met;NP_001657.3:p.Thr941Met 467026477 186581498 20101123_snps_13193707_chrX_153173202 3.62e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173202G>A;NG_013220.1:g.23513C>T;NM_001164741.1:c.2942C>T;NM_001666.4:c.2822C>T;NP_001158213.1:p.Thr981Met;NP_001657.3:p.Thr941Met 491205763 186581498 20110521_exome_713561_chrX_153173202 3.62e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153173202G>A;NG_013220.1:g.23513C>T;NM_001164741.1:c.2942C>T;NM_001666.4:c.2822C>T;NP_001158213.1:p.Thr981Met;NP_001657.3:p.Thr941Met 491580694 186581498 nonsyn_296920_chr_X_153173202 3.62e-03 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 HGSV 393 NC_000023.10:g.153173226G>A;NG_013220.1:g.23489C>T;NM_001164741.1:c.2918C>T;NM_001666.4:c.2798C>T;NP_001158213.1:p.Ala973Val;NP_001657.3:p.Ala933Val 82396715 58410072 Cor18555_SNV_20070510.chrX_152694073 2007.12.02 2007.12.02 2007.12.15 2011.07.08 137 SEATTLESEQ 393 NC_000023.10:g.153173226G>A;NG_013220.1:g.23489C>T;NM_001164741.1:c.2918C>T;NM_001666.4:c.2798C>T;NP_001158213.1:p.Ala973Val;NP_001657.3:p.Ala933Val 159745984 58410072 ARHGAP4-152826420 2009.07.10 2009.07.10 2007.12.15 2011.07.08 137 SC_JCM 393 NC_000023.10:g.153173235G>A;NG_013220.1:g.23480C>T;NM_001164741.1:c.2909C>T;NM_001666.4:c.2789C>T;NP_001158213.1:p.Ser970Leu;NP_001657.3:p.Ser930Leu 4045829 2857836 Z68128.1_21848 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 ABI 393 NC_000023.10:g.153173235G>A;NG_013220.1:g.23480C>T;NM_001164741.1:c.2909C>T;NM_001666.4:c.2789C>T;NP_001158213.1:p.Ser970Leu;NP_001657.3:p.Ser930Leu 43591560 2857836 hCV16135488 2005.07.18 2005.07.18 2001.09.28 2011.07.08 137 RIKENSNPRC 393 NC_000023.10:g.153173283C>T;NG_013220.1:g.23432G>A;NM_001164741.1:c.2861G>A;NM_001666.4:c.2741G>A;NP_001158213.1:p.Arg954His;NP_001657.3:p.Arg914His 49849522 34514067 ssj0009920 2005.12.06 2005.12.06 2006.03.14 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153173294C>T;NG_013220.1:g.23421G>A;NM_001164741.1:c.2850G>A;NM_001666.4:c.2730G>A;NP_001158213.1:p.Pro950=;NP_001657.3:p.Pro910= 342561894 142961505 ESP2500-chrX-153173294 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153173295G>A;NG_013220.1:g.23420C>T;NM_001164741.1:c.2849C>T;NM_001666.4:c.2729C>T;NP_001158213.1:p.Pro950Leu;NP_001657.3:p.Pro910Leu 342561895 151147398 ESP2500-chrX-153173295 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153173330G>C;NG_013220.1:g.23385C>G;NM_001164741.1:c.2814C>G;NM_001666.4:c.2694C>G;NP_001158213.1:p.Thr938=;NP_001657.3:p.Thr898= 489234703 199871431 20110521_exome_290549_chrX_153173330 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153173346C>T;NG_013220.1:g.23369G>A;NM_001164741.1:c.2798G>A;NM_001666.4:c.2678G>A;NP_001158213.1:p.Gly933Glu;NP_001657.3:p.Gly893Glu 342561896 139058246 ESP2500-chrX-153173346 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153173346C>T;NG_013220.1:g.23369G>A;NM_001164741.1:c.2798G>A;NM_001666.4:c.2678G>A;NP_001158213.1:p.Gly933Glu;NP_001657.3:p.Gly893Glu 491580695 139058246 nonsyn_296921_chr_X_153173346 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153173346C>T;NG_013220.1:g.23369G>A;NM_001164741.1:c.2798G>A;NM_001666.4:c.2678G>A;NP_001158213.1:p.Gly933Glu;NP_001657.3:p.Gly893Glu 491955379 139058246 SNV-chrX-152826540 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173352C>T;NG_013220.1:g.23363G>A;NM_001164741.1:c.2792G>A;NM_001666.4:c.2672G>A;NP_001158213.1:p.Gly931Asp;NP_001657.3:p.Gly891Asp 489234705 201123211 20110521_exome_290550_chrX_153173352 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153173352C>T;NG_013220.1:g.23363G>A;NM_001164741.1:c.2792G>A;NM_001666.4:c.2672G>A;NP_001158213.1:p.Gly931Asp;NP_001657.3:p.Gly891Asp 491580696 201123211 nonsyn_296922_chr_X_153173352 6.03e-04 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153173358C>T;NG_013220.1:g.23357G>A;NM_001164741.1:c.2786G>A;NM_001666.4:c.2666G>A;NP_001158213.1:p.Arg929His;NP_001657.3:p.Arg889His 342561897 149873165 ESP2500-chrX-153173358 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153173413C>T;NG_013220.1:g.23302G>A;NM_001164741.1:c.2731G>A;NM_001666.4:c.2611G>A;NP_001158213.1:p.Val911Met;NP_001657.3:p.Val871Met 342561898 147601758 ESP2500-chrX-153173413 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153173422G>A;NG_013220.1:g.23293C>T;NM_001164741.1:c.2728-6C>T;NM_001666.4:c.2608-6C>T 341907742 139401482 20100804_snps_659413_chrX_153173422 2.17e-02 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173422G>A;NG_013220.1:g.23293C>T;NM_001164741.1:c.2728-6C>T;NM_001666.4:c.2608-6C>T 491205764 139401482 20110521_exome_713562_chrX_153173422 2.17e-02 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173614T>C;NG_013220.1:g.23101A>G;NM_001164741.1:c.2728-198A>G;NM_001666.4:c.2608-198A>G 341907743 140600615 20100804_snps_659414_chrX_153173614 4.82e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 ILLUMINA 393 NC_000023.10:g.153173642G>A;NG_013220.1:g.23073C>T;NM_001164741.1:c.2728-226C>T;NM_001666.4:c.2608-226C>T 482854980 201348642 HumanOmni2.5-4v1_D_kgp22817786-0_T_F_1860386711 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153173642G>A;NG_013220.1:g.23073C>T;NM_001164741.1:c.2728-226C>T;NM_001666.4:c.2608-226C>T 484350430 201348642 HumanOmni2.5-4v1_B_SNP23-152826836-0_T_F_1649771167 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173679C>A;NG_013220.1:g.23036G>T;NM_001164741.1:c.2728-263G>T;NM_001666.4:c.2608-263G>T 467026478 192244622 20101123_snps_13193708_chrX_153173679 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153173752C>A;NG_013220.1:g.22963G>T;NM_001164741.1:c.2728-336G>T;NM_001666.4:c.2608-336G>T 467026479 182690756 20101123_snps_13193709_chrX_153173752 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153173815G>A;NG_013220.1:g.22900C>T;NM_001164741.1:c.2728-399C>T;NM_001666.4:c.2608-399C>T 341907744 150305418 20100804_snps_659415_chrX_153173815 4.82e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153173930C>T;NG_013220.1:g.22785G>A;NM_001164741.1:c.2728-514G>A;NM_001666.4:c.2608-514G>A 467026480 187766342 20101123_snps_13193710_chrX_153173930 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 393 NC_000023.10:g.153173949delC;NG_013220.1:g.22766delG;NM_001164741.1:c.2728-533delG;NM_001666.4:c.2608-533delG 43670798 34224005 hCV34424852 2005.07.18 2005.07.18 2006.03.13 2011.07.08 137 BCM_SSAHASNP 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 10562555 7057931 chrX.NT_025965.11_513254 4.85e-01 2003.06.29 2003.10.10 2003.07.11 2012.11.28 137 RIKENSNPRC 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 49849523 7057931 ssj0009921 4.85e-01 2005.12.06 2005.12.06 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 115335788 7057931 NA19240_2008_12_16_3585609_chrX_152827169 4.85e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 115668826 7057931 NA18507_000086230_NCBI36.1_chrX_152827169 4.85e-01 2009.01.15 2009.01.15 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 163350657 7057931 NA07022_36_chrX_152827169 4.85e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 165815061 7057931 NA19240_36_chrX_152827169 4.85e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 208924728 7057931 BCM_CMT_1011-3380163 4.85e-01 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 GMI 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 283908233 7057931 GMI_AK_SNP_8228715 4.85e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 467026481 7057931 20101123_snps_13193711_chrX_153173975 4.85e-01 2011.07.20 2011.07.20 2003.07.11 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 482644720 7057931 HumanOmni2.5-4v1_D_kgp22747377-0_B_F_1860467588 4.85e-01 2012.02.01 2012.02.01 2003.07.11 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153173975T>C;NG_013220.1:g.22740A>G;NM_001164741.1:c.2727+549A>G;NM_001666.4:c.2607+549A>G 484350432 7057931 HumanOmni2.5-4v1_B_SNP23-152827169-0_B_F_1649712261 4.85e-01 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174098C>T;NG_013220.1:g.22617G>A;NM_001164741.1:c.2727+426G>A;NM_001666.4:c.2607+426G>A 467026482 183121032 20101123_snps_13193712_chrX_153174098 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 393 NC_000023.10:g.153174242C>T;NG_013220.1:g.22473G>A;NM_001164741.1:c.2727+282G>A;NM_001666.4:c.2607+282G>A 20977926 12832725 WGSA-200403-chrX.chrX.NT_025965.12_526217 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 WI_SSAHASNP 393 NC_000023.10:g.153174440C>T;NG_013220.1:g.22275G>A;NM_001164741.1:c.2727+84G>A;NM_001666.4:c.2607+84G>A 12053955 7890729 chrX.NT_025965.11_513719 6.63e-03 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153174440C>T;NG_013220.1:g.22275G>A;NM_001164741.1:c.2727+84G>A;NM_001666.4:c.2607+84G>A 74978386 7890729 ILMN_Human_1M_rs7890729 6.63e-03 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153174440C>T;NG_013220.1:g.22275G>A;NM_001164741.1:c.2727+84G>A;NM_001666.4:c.2607+84G>A 115668827 7890729 NA18507_000086231_NCBI36.1_chrX_152827634 6.63e-03 2009.01.15 2009.01.15 2003.07.11 2012.11.28 137 KRIBB_YJKIM 393 NC_000023.10:g.153174440C>T;NG_013220.1:g.22275G>A;NM_001164741.1:c.2727+84G>A;NM_001666.4:c.2607+84G>A 119573898 7890729 KHS1736145 6.63e-03 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153174440C>T;NG_013220.1:g.22275G>A;NM_001164741.1:c.2727+84G>A;NM_001666.4:c.2607+84G>A 174603643 7890729 Human1M-Duov3_B_rs7890729-116_T_R_1513947979 6.63e-03 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174440C>T;NG_013220.1:g.22275G>A;NM_001164741.1:c.2727+84G>A;NM_001666.4:c.2607+84G>A 341907745 7890729 20100804_snps_659416_chrX_153174440 6.63e-03 2011.03.25 2011.03.25 2003.07.11 2012.11.28 137 ABI 393 NC_000023.10:g.153174498C>T;NC_000023.10:g.153174498delC;NG_013220.1:g.22217G>A;NG_013220.1:g.22217delG;NM_001164741.1:c.2727+26G>A;NM_001164741.1:c.2727+26delG;NM_001666.4:c.2607+26G>A;NM_001666.4:c.2607+26delG 43603442 34485737 hCV34424851 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 EXOME_CHIP 393 NC_000023.10:g.153174574G>A;NG_013220.1:g.22141C>T;NM_001164741.1:c.2677C>T;NM_001666.4:c.2557C>T;NP_001158213.1:p.Arg893Ter;NP_001657.3:p.Arg853Ter 491580697 202239294 stopgl_296923_chr_X_153174574 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 NHLBI-ESP 393 NC_000023.10:g.153174591C>T;NG_013220.1:g.22124G>A;NM_001164741.1:c.2660G>A;NM_001666.4:c.2540G>A;NP_001158213.1:p.Gly887Glu;NP_001657.3:p.Gly847Glu 342561899 142056530 ESP2500-chrX-153174591 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153174759C>G;NG_013220.1:g.21956G>C;NM_001164741.1:c.2628-136G>C;NM_001666.4:c.2508-136G>C 341907746 149449709 20100804_snps_659417_chrX_153174759 5.42e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 GMI 393 NC_000023.10:g.153174818C>G;NG_013220.1:g.21897G>C;NM_001164741.1:c.2627+79G>C;NM_001666.4:c.2507+79G>C 283908234 200205320 GMI_AK_SNP_8228716 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 393 NC_000023.10:g.153174819_153174820insG;NG_013220.1:g.21895_21896insC;NM_001164741.1:c.2627+77_2627+78insC;NM_001666.4:c.2507+77_2507+78insC 15278643 11394527 INDEL_GP34_WGS_417621 0 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 GMI 393 NC_000023.10:g.153174819_153174820insG;NG_013220.1:g.21895_21896insC;NM_001164741.1:c.2627+77_2627+78insC;NM_001666.4:c.2507+77_2507+78insC 155884982 11394527 GMI_INDEL-170005 0 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153174819_153174820insG;NG_013220.1:g.21895_21896insC;NM_001164741.1:c.2627+77_2627+78insC;NM_001666.4:c.2507+77_2507+78insC 194072734 11394527 BUSHMAN-chrX-152828013-152828013 0 2010.02.17 2010.02.17 2004.02.28 2012.11.28 137 BL 393 NC_000023.10:g.153174819_153174820insG;NG_013220.1:g.21895_21896insC;NM_001164741.1:c.2627+77_2627+78insC;NM_001666.4:c.2507+77_2507+78insC 256216803 11394527 SNP6545_X_152828013 0 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 GMI 393 NC_000023.10:g.153174819_153174820insG;NG_013220.1:g.21895_21896insC;NM_001164741.1:c.2627+77_2627+78insC;NM_001666.4:c.2507+77_2507+78insC 478865210 11394527 GMI_AK_INDEL_1168053 0 2011.12.31 2011.12.31 2004.02.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174819_153174820insG;NG_013220.1:g.21895_21896insC;NM_001164741.1:c.2627+77_2627+78insC;NM_001666.4:c.2507+77_2507+78insC 500142528 11394527 20110316_indels_chrX_153174819_153174820 0 2012.03.20 2012.03.20 2004.02.28 2012.11.28 137 ABI 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 43827171 33963388 hCV34424849 2005.07.18 2005.07.18 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 50167858 33963388 INDEL_GP35_WGS_391472 2006.01.24 2006.01.24 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 50233887 33963388 INDEL_GP35_WGS_476511 2006.01.24 2006.01.24 2006.03.13 2012.05.11 137 HGSV 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 82358881 33963388 Cor19240_DIV_20070510.chrX_152695668-152695669_1 2007.12.02 2007.12.02 2006.03.13 2012.05.11 137 HGSV 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 82957370 33963388 Cor19240_DIV_20070510.chrX_152695668-152695669_2 2007.12.04 2007.12.04 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 99905062 33963388 INDEL_GP36_2007a_279673_0 2008.05.06 2008.05.06 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 101261636 33963388 INDEL_GP36_2008a_279673_1 2008.05.17 2008.05.17 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 101261638 33963388 INDEL_GP36_2008a_279673_2 2008.05.17 2008.05.17 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 101261640 33963388 INDEL_GP36_2008a_279673_3 2008.05.17 2008.05.17 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 101261645 33963388 INDEL_GP36_2008a_279673_4 2008.05.17 2008.05.17 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 101261646 33963388 INDEL_GP36_2008a_279673_5 2008.05.17 2008.05.17 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 101261649 33963388 INDEL_GP36_2008a_279673_6 2008.05.17 2008.05.17 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 101900999 33963388 INDEL_GP36_2008a_969217_0 2008.05.18 2008.05.18 2006.03.13 2012.05.11 137 BUSHMAN 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 194072736 33963388 BUSHMAN-chrX-152828015-152828015 2010.02.17 2010.02.17 2006.03.13 2012.05.11 137 PJP 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 295468182 33963388 DIP_905886_chrX_152828014 2011.01.24 2011.01.24 2006.03.13 2012.05.11 137 PJP 393 NC_000023.10:g.153174820_153174821insG;NG_013220.1:g.21894_21895insC;NM_001164741.1:c.2627+76_2627+77insC;NM_001666.4:c.2507+76_2507+77insC 295468183 33963388 DIP_905887_chrX_152828015 2011.01.24 2011.01.24 2006.03.13 2012.05.11 137 BUSHMAN 393 NC_000023.10:g.153174852A>G;NG_013220.1:g.21863T>C;NM_001164741.1:c.2627+45T>C;NM_001666.4:c.2507+45T>C 204403543 113896893 BUSHMAN-chrX-152828045 9.64e-03 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174852A>G;NG_013220.1:g.21863T>C;NM_001164741.1:c.2627+45T>C;NM_001666.4:c.2507+45T>C 341907747 113896893 20100804_snps_659418_chrX_153174852 9.64e-03 2011.03.25 2011.03.25 2010.07.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174852A>G;NG_013220.1:g.21863T>C;NM_001164741.1:c.2627+45T>C;NM_001666.4:c.2507+45T>C 491205765 113896893 20110521_exome_713563_chrX_153174852 9.64e-03 2012.02.22 2012.02.22 2010.07.04 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174866_153174867insG;NG_013220.1:g.21848_21849insC;NM_001164741.1:c.2627+30_2627+31insC;NM_001666.4:c.2507+30_2507+31insC 15290392 11405331 INDEL_GP34_WGS_431359 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 BL 393 NC_000023.10:g.153174866_153174867insG;NG_013220.1:g.21848_21849insC;NM_001164741.1:c.2627+30_2627+31insC;NM_001666.4:c.2507+30_2507+31insC 256216804 11405331 SNP6546_X_152828061 2010.08.20 2010.08.20 2004.02.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174866_153174867insG;NG_013220.1:g.21848_21849insC;NM_001164741.1:c.2627+30_2627+31insC;NM_001666.4:c.2507+30_2507+31insC 500142532 11405331 20110316_indels_chrX_153174867_153174868 2012.03.20 2012.03.20 2004.02.28 2012.11.28 137 ABI 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 43632712 34046683 hCV34424847 2005.07.18 2005.07.18 2006.03.13 2012.11.28 137 HGSV 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 77870794 34046683 Cor12156_DIV_20070510.chrX_152695716-152695717_1 2007.10.15 2007.10.15 2006.03.13 2012.11.28 137 HGSV 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 81649959 34046683 Cor18555_DIV_20070510.chrX_152695716-152695717_1 2007.12.01 2007.12.01 2006.03.13 2012.11.28 137 HGSV 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 82358885 34046683 Cor19240_DIV_20070510.chrX_152695716-152695717_1 2007.12.02 2007.12.02 2006.03.13 2012.11.28 137 HGSV 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 82957374 34046683 Cor19240_DIV_20070510.chrX_152695716-152695717_2 2007.12.04 2007.12.04 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 99763665 34046683 INDEL_GP36_2007a_279674_0 2008.05.06 2008.05.06 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 101155510 34046683 INDEL_GP36_2008a_969218_0 2008.05.17 2008.05.17 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 101155513 34046683 INDEL_GP36_2008a_969218_1 2008.05.17 2008.05.17 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 101155516 34046683 INDEL_GP36_2008a_969218_2 2008.05.17 2008.05.17 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 101155519 34046683 INDEL_GP36_2008a_969218_3 2008.05.17 2008.05.17 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 102396458 34046683 INDEL_GP36_2008a_279674_1 2008.05.18 2008.05.18 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 102396460 34046683 INDEL_GP36_2008a_279674_2 2008.05.18 2008.05.18 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 102396464 34046683 INDEL_GP36_2008a_279674_3 2008.05.18 2008.05.18 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 102396466 34046683 INDEL_GP36_2008a_279674_4 2008.05.18 2008.05.18 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 102396468 34046683 INDEL_GP36_2008a_279674_5 2008.05.18 2008.05.18 2006.03.13 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 194072738 34046683 BUSHMAN-chrX-152828063-152828063 2010.02.17 2010.02.17 2006.03.13 2012.11.28 137 PJP 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 295468184 34046683 DIP_905888_chrX_152828062 2011.01.24 2011.01.24 2006.03.13 2012.11.28 137 PJP 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 295468185 34046683 DIP_905889_chrX_152828063 2011.01.24 2011.01.24 2006.03.13 2012.11.28 137 GMI 393 NC_000023.10:g.153174868_153174869insG;NG_013220.1:g.21846_21847insC;NM_001164741.1:c.2627+28_2627+29insC;NM_001666.4:c.2507+28_2507+29insC 478865211 34046683 GMI_AK_INDEL_1168054 2011.12.31 2011.12.31 2006.03.13 2012.11.28 137 GMI 393 NC_000023.10:g.153174870C>G;NG_013220.1:g.21845G>C;NM_001164741.1:c.2627+27G>C;NM_001666.4:c.2507+27G>C 283908235 201366489 GMI_AK_SNP_8228717 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 393 NC_000023.10:g.153174898G>A;NG_013220.1:g.21817C>T;NM_001164741.1:c.2626C>T;NM_001666.4:c.2506C>T;NP_001158213.1:p.Arg876Trp;NP_001657.3:p.Arg836Trp 489234707 200840051 20110521_exome_290551_chrX_153174898 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BCM-HGSC-SUB 393 NC_000023.10:g.153174925C>T;NG_013220.1:g.21790G>A;NM_001164741.1:c.2599G>A;NM_001666.4:c.2479G>A;NP_001158213.1:p.Gly867Ser;NP_001657.3:p.Gly827Ser 208936352 111653090 BCM_CMT_1011-3391787 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153174934T>G;NG_013220.1:g.21781A>C;NM_001164741.1:c.2590A>C;NM_001666.4:c.2470A>C;NP_001158213.1:p.Ser864Arg;NP_001657.3:p.Ser824Arg 342561900 145982906 ESP2500-chrX-153174934 4.82e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174934T>G;NG_013220.1:g.21781A>C;NM_001164741.1:c.2590A>C;NM_001666.4:c.2470A>C;NP_001158213.1:p.Ser864Arg;NP_001657.3:p.Ser824Arg 467026483 145982906 20101123_snps_13193713_chrX_153174934 4.82e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174934T>G;NG_013220.1:g.21781A>C;NM_001164741.1:c.2590A>C;NM_001666.4:c.2470A>C;NP_001158213.1:p.Ser864Arg;NP_001657.3:p.Ser824Arg 491205766 145982906 20110521_exome_713564_chrX_153174934 4.82e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153174934T>G;NG_013220.1:g.21781A>C;NM_001164741.1:c.2590A>C;NM_001666.4:c.2470A>C;NP_001158213.1:p.Ser864Arg;NP_001657.3:p.Ser824Arg 491580698 145982906 nonsyn_296924_chr_X_153174934 4.82e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153174934T>G;NG_013220.1:g.21781A>C;NM_001164741.1:c.2590A>C;NM_001666.4:c.2470A>C;NP_001158213.1:p.Ser864Arg;NP_001657.3:p.Ser824Arg 491955380 145982906 SNV-chrX-152828128 4.82e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153174949C>A;NG_013220.1:g.21766G>T;NM_001164741.1:c.2575G>T;NM_001666.4:c.2455G>T;NP_001158213.1:p.Gly859Trp;NP_001657.3:p.Gly819Trp 342561901 147816239 ESP2500-chrX-153174949 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CORNELL 393 NC_000023.10:g.153174968G>A;NG_013220.1:g.21747C>T;NM_001164741.1:c.2556C>T;NM_001666.4:c.2436C>T;NP_001158213.1:p.Gly852=;NP_001657.3:p.Gly812= 86258033 61749033 hCV25923128 0 2008.01.21 2010.09.29 2008.03.23 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153174968G>A;NG_013220.1:g.21747C>T;NM_001164741.1:c.2556C>T;NM_001666.4:c.2436C>T;NP_001158213.1:p.Gly852=;NP_001657.3:p.Gly812= 342561902 61749033 ESP2500-chrX-153174968 0 2011.03.27 2011.03.27 2008.03.23 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174968G>A;NG_013220.1:g.21747C>T;NM_001164741.1:c.2556C>T;NM_001666.4:c.2436C>T;NP_001158213.1:p.Gly852=;NP_001657.3:p.Gly812= 489234709 61749033 20110521_exome_290552_chrX_153174968 0 2012.02.14 2012.02.14 2008.03.23 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153174987G>A;NG_013220.1:g.21728C>T;NM_001164741.1:c.2537C>T;NM_001666.4:c.2417C>T;NP_001158213.1:p.Thr846Met;NP_001657.3:p.Thr806Met 342561903 143619652 ESP2500-chrX-153174987 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 SI_EXO 393 NC_000023.10:g.153174993C>T;NG_013220.1:g.21722G>A;NM_001164741.1:c.2535-4G>A;NM_001666.4:c.2415-4G>A 61708118 41299128 NT_025965.13_526956 8.44e-03 2006.07.11 2006.08.17 2006.10.18 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174993C>T;NG_013220.1:g.21722G>A;NM_001164741.1:c.2535-4G>A;NM_001666.4:c.2415-4G>A 341907748 41299128 20100804_snps_659419_chrX_153174993 8.44e-03 2011.03.25 2011.03.25 2006.10.18 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153174993C>T;NG_013220.1:g.21722G>A;NM_001164741.1:c.2535-4G>A;NM_001666.4:c.2415-4G>A 491205767 41299128 20110521_exome_713565_chrX_153174993 8.44e-03 2012.02.22 2012.02.22 2006.10.18 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153174993C>T;NG_013220.1:g.21722G>A;NM_001164741.1:c.2535-4G>A;NM_001666.4:c.2415-4G>A 491955381 41299128 SNV-chrX-152828187 8.44e-03 2012.03.07 2012.03.13 2006.10.18 2012.11.28 137 GMI 393 NC_000023.10:g.153175053_153175054insC;NG_013220.1:g.21661_21662insG;NM_001164741.1:c.2535-65_2535-64insG;NM_001666.4:c.2415-65_2415-64insG 155884988 78818510 GMI_INDEL-170006 0 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153175053_153175054insC;NG_013220.1:g.21661_21662insG;NM_001164741.1:c.2535-65_2535-64insG;NM_001666.4:c.2415-65_2415-64insG 194072740 78818510 BUSHMAN-chrX-152828247-152828247 0 2010.02.17 2010.02.17 2009.12.01 2012.11.28 137 BL 393 NC_000023.10:g.153175053_153175054insC;NG_013220.1:g.21661_21662insG;NM_001164741.1:c.2535-65_2535-64insG;NM_001666.4:c.2415-65_2415-64insG 256216805 78818510 SNP6547_X_152828247 0 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 GMI 393 NC_000023.10:g.153175053_153175054insC;NG_013220.1:g.21661_21662insG;NM_001164741.1:c.2535-65_2535-64insG;NM_001666.4:c.2415-65_2415-64insG 478865212 78818510 GMI_AK_INDEL_1168055 0 2011.12.31 2011.12.31 2009.12.01 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175053_153175054insC;NG_013220.1:g.21661_21662insG;NM_001164741.1:c.2535-65_2535-64insG;NM_001666.4:c.2415-65_2415-64insG 500142536 78818510 20110316_indels_chrX_153175053_153175054 0 2012.03.20 2012.03.20 2009.12.01 2012.11.28 137 HGSV 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 77870793 56015121 Cor12156_DIV_20070510.chrX_152695901-152695902_1 2007.10.15 2007.10.15 2007.12.07 2012.05.11 137 HGSV 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 81649952 56015121 Cor18555_DIV_20070510.chrX_152695901-152695902_1 2007.12.01 2007.12.01 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338541 56015121 INDEL_GP36_2008a_986896_0 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338544 56015121 INDEL_GP36_2008a_986896_1 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338548 56015121 INDEL_GP36_2008a_986896_2 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338551 56015121 INDEL_GP36_2008a_986896_3 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338554 56015121 INDEL_GP36_2008a_986896_4 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338557 56015121 INDEL_GP36_2008a_986896_5 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338558 56015121 INDEL_GP36_2008a_986896_6 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 100338560 56015121 INDEL_GP36_2008a_986896_7 2008.05.16 2008.05.16 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 102297286 56015121 INDEL_GP36_2008a_969219_0 2008.05.18 2008.05.18 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 102297289 56015121 INDEL_GP36_2008a_969219_1 2008.05.18 2008.05.18 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 102297291 56015121 INDEL_GP36_2008a_969219_2 2008.05.18 2008.05.18 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 102297293 56015121 INDEL_GP36_2008a_969219_3 2008.05.18 2008.05.18 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 102297296 56015121 INDEL_GP36_2008a_969219_4 2008.05.18 2008.05.18 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 102297299 56015121 INDEL_GP36_2008a_969219_5 2008.05.18 2008.05.18 2007.12.07 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 102297303 56015121 INDEL_GP36_2008a_969219_6 2008.05.18 2008.05.18 2007.12.07 2012.05.11 137 PJP 393 NC_000023.10:g.153175054_153175055insC;NG_013220.1:g.21660_21661insG;NM_001164741.1:c.2535-66_2535-65insG;NM_001666.4:c.2415-66_2415-65insG 295468186 56015121 DIP_905890_chrX_152828248 2011.01.24 2011.01.24 2007.12.07 2012.05.11 137 EXOME_CHIP 393 NC_000023.10:g.153175196C>T;NG_013220.1:g.21519G>A;NM_001164741.1:c.2533G>A;NM_001666.4:c.2413G>A;NP_001158213.1:p.Gly845Arg;NP_001657.3:p.Gly805Arg 491580699 200880463 splice_296925_chr_X_153175196 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 AFFX 393 NC_000023.10:g.153175295C>A;NG_013220.1:g.21420G>T;NM_001164741.1:c.2434G>T;NM_001666.4:c.2314G>T;NP_001158213.1:p.Val812Leu;NP_001657.3:p.Val772Leu 2982261 2070099 AFFX_SNP-250 1.63e-02 2001.05.21 2003.10.10 2001.06.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175295C>A;NG_013220.1:g.21420G>T;NM_001164741.1:c.2434G>T;NM_001666.4:c.2314G>T;NP_001158213.1:p.Val812Leu;NP_001657.3:p.Val772Leu 341907749 2070099 20100804_snps_659420_chrX_153175295 1.63e-02 2011.03.25 2011.03.25 2001.06.15 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175295C>A;NG_013220.1:g.21420G>T;NM_001164741.1:c.2434G>T;NM_001666.4:c.2314G>T;NP_001158213.1:p.Val812Leu;NP_001657.3:p.Val772Leu 342561904 2070099 ESP2500-chrX-153175295 1.63e-02 2011.03.27 2011.03.27 2001.06.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175295C>A;NG_013220.1:g.21420G>T;NM_001164741.1:c.2434G>T;NM_001666.4:c.2314G>T;NP_001158213.1:p.Val812Leu;NP_001657.3:p.Val772Leu 491205768 2070099 20110521_exome_713566_chrX_153175295 1.63e-02 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153175295C>A;NG_013220.1:g.21420G>T;NM_001164741.1:c.2434G>T;NM_001666.4:c.2314G>T;NP_001158213.1:p.Val812Leu;NP_001657.3:p.Val772Leu 491580700 2070099 nonsyn_296926_chr_X_153175295 1.63e-02 2012.03.06 2012.03.06 2001.06.15 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153175295C>A;NG_013220.1:g.21420G>T;NM_001164741.1:c.2434G>T;NM_001666.4:c.2314G>T;NP_001158213.1:p.Val812Leu;NP_001657.3:p.Val772Leu 491955382 2070099 SNV-chrX-152828489 1.63e-02 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 YUSUKE 393 NC_000023.10:g.153175306C>T;NG_013220.1:g.21409G>A;NM_001164741.1:c.2423G>A;NM_001666.4:c.2303G>A;NP_001158213.1:p.Arg808Gln;NP_001657.3:p.Arg768Gln 4474086 3213439 IMS-JST075030 0 2002.06.06 2003.10.10 2002.07.03 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153175306C>T;NG_013220.1:g.21409G>A;NM_001164741.1:c.2423G>A;NM_001666.4:c.2303G>A;NP_001158213.1:p.Arg808Gln;NP_001657.3:p.Arg768Gln 75014071 3213439 ILMN_Human_1M_rs3213439 0 2007.08.29 2007.08.29 2002.07.03 2012.11.28 137 KRIBB_YJKIM 393 NC_000023.10:g.153175306C>T;NG_013220.1:g.21409G>A;NM_001164741.1:c.2423G>A;NM_001666.4:c.2303G>A;NP_001158213.1:p.Arg808Gln;NP_001657.3:p.Arg768Gln 119456558 3213439 KHS1618805 0 2009.02.04 2009.02.04 2002.07.03 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153175306C>T;NG_013220.1:g.21409G>A;NM_001164741.1:c.2423G>A;NM_001666.4:c.2303G>A;NP_001158213.1:p.Arg808Gln;NP_001657.3:p.Arg768Gln 173575721 3213439 Human1M-Duov3_B_rs3213439-127_T_R_1513973746 0 2009.10.04 2009.10.04 2002.07.03 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175306C>T;NG_013220.1:g.21409G>A;NM_001164741.1:c.2423G>A;NM_001666.4:c.2303G>A;NP_001158213.1:p.Arg808Gln;NP_001657.3:p.Arg768Gln 489234711 3213439 20110521_exome_290553_chrX_153175306 0 2012.02.14 2012.02.14 2002.07.03 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175411G>T;NG_013220.1:g.21304C>A;NM_001164741.1:c.2351-33C>A;NM_001666.4:c.2231-33C>A 341907750 146242010 20100804_snps_659421_chrX_153175411 3.92e-02 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175411G>T;NG_013220.1:g.21304C>A;NM_001164741.1:c.2351-33C>A;NM_001666.4:c.2231-33C>A 491205769 146242010 20110521_exome_713567_chrX_153175411 3.92e-02 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175465C>T;NG_013220.1:g.21250G>A;NM_001164741.1:c.2350+1G>A;NM_001666.4:c.2230+1G>A 342561905 140961280 ESP2500-chrX-153175465 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153175488G>A;NG_013220.1:g.21227C>T;NM_001164741.1:c.2328C>T;NM_001666.4:c.2208C>T;NP_001158213.1:p.Ala776=;NP_001657.3:p.Ala736= 489234714 202030698 20110521_exome_290554_chrX_153175488 1.21e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175508T>C;NG_013220.1:g.21207A>G;NM_001164741.1:c.2308A>G;NM_001666.4:c.2188A>G;NP_001158213.1:p.Asn770Asp;NP_001657.3:p.Asn730Asp 342561906 144977464 ESP2500-chrX-153175508 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153175513G>A;NG_013220.1:g.21202C>T;NM_001164741.1:c.2303C>T;NM_001666.4:c.2183C>T;NP_001158213.1:p.Ala768Val;NP_001657.3:p.Ala728Val 489234716 201193891 20110521_exome_290555_chrX_153175513 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175558C>T;NG_013220.1:g.21157G>A;NM_001164741.1:c.2277-19G>A;NM_001666.4:c.2157-19G>A 489234718 200488014 20110521_exome_290556_chrX_153175558 1.81e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 YUSUKE 393 NC_000023.10:g.153175586G>C;NG_013220.1:g.21129C>G;NM_001164741.1:c.2276+39C>G;NM_001666.4:c.2156+39C>G 4474087 3213440 IMS-JST075031 1.33e-01 2002.06.06 2003.10.10 2002.07.03 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153175586G>C;NG_013220.1:g.21129C>G;NM_001164741.1:c.2276+39C>G;NM_001666.4:c.2156+39C>G 8228991 3213440 NT_025965.9_514865 1.33e-01 2003.04.17 2003.10.10 2002.07.03 2012.11.28 137 BGI 393 NC_000023.10:g.153175586G>C;NG_013220.1:g.21129C>G;NM_001164741.1:c.2276+39C>G;NM_001666.4:c.2156+39C>G 105777040 3213440 BGI_rs3213440 1.33e-01 2008.09.12 2009.06.19 2002.07.03 2012.11.28 137 GMI 393 NC_000023.10:g.153175586G>C;NG_013220.1:g.21129C>G;NM_001164741.1:c.2276+39C>G;NM_001666.4:c.2156+39C>G 283908236 3213440 GMI_AK_SNP_8228718 1.33e-01 2010.12.16 2010.12.16 2002.07.03 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175586G>C;NG_013220.1:g.21129C>G;NM_001164741.1:c.2276+39C>G;NM_001666.4:c.2156+39C>G 341907751 3213440 20100804_snps_659422_chrX_153175586 1.33e-01 2011.03.25 2011.03.25 2002.07.03 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175586G>C;NG_013220.1:g.21129C>G;NM_001164741.1:c.2276+39C>G;NM_001666.4:c.2156+39C>G 491205770 3213440 20110521_exome_713568_chrX_153175586 1.33e-01 2012.02.22 2012.02.22 2002.07.03 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175639G>A;NG_013220.1:g.21076C>T;NM_001164741.1:c.2262C>T;NM_001666.4:c.2142C>T;NP_001158213.1:p.Ser754=;NP_001657.3:p.Ser714= 342561907 138870391 ESP2500-chrX-153175639 6.03e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175639G>A;NG_013220.1:g.21076C>T;NM_001164741.1:c.2262C>T;NM_001666.4:c.2142C>T;NP_001158213.1:p.Ser754=;NP_001657.3:p.Ser714= 489234720 138870391 20110521_exome_290557_chrX_153175639 6.03e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153175639G>A;NG_013220.1:g.21076C>T;NM_001164741.1:c.2262C>T;NM_001666.4:c.2142C>T;NP_001158213.1:p.Ser754=;NP_001657.3:p.Ser714= 491955383 138870391 SNV-chrX-152828833 6.03e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175645C>T;NG_013220.1:g.21070G>A;NM_001164741.1:c.2256G>A;NM_001666.4:c.2136G>A;NP_001158213.1:p.Pro752=;NP_001657.3:p.Pro712= 342561908 141995493 ESP2500-chrX-153175645 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153175676G>A;NG_013220.1:g.21039C>T;NM_001164741.1:c.2225C>T;NM_001666.4:c.2105C>T;NP_001158213.1:p.Pro742Leu;NP_001657.3:p.Pro702Leu 342561909 146371243 ESP2500-chrX-153175676 6.03e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175676G>A;NG_013220.1:g.21039C>T;NM_001164741.1:c.2225C>T;NM_001666.4:c.2105C>T;NP_001158213.1:p.Pro742Leu;NP_001657.3:p.Pro702Leu 489234722 146371243 20110521_exome_290558_chrX_153175676 6.03e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153175676G>A;NG_013220.1:g.21039C>T;NM_001164741.1:c.2225C>T;NM_001666.4:c.2105C>T;NP_001158213.1:p.Pro742Leu;NP_001657.3:p.Pro702Leu 491580701 146371243 nonsyn_296927_chr_X_153175676 6.03e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175704G>A;NG_013220.1:g.21011C>T;NM_001164741.1:c.2197C>T;NM_001666.4:c.2077C>T;NP_001158213.1:p.Arg733Trp;NP_001657.3:p.Arg693Trp 342561910 138254071 ESP2500-chrX-153175704 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153175726C>G;NG_013220.1:g.20989G>C;NM_001164741.1:c.2175G>C;NM_001666.4:c.2055G>C;NP_001158213.1:p.Gln725His;NP_001657.3:p.Gln685His 489234724 200637748 20110521_exome_290559_chrX_153175726 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175743C>T;NG_013220.1:g.20972G>A;NM_001164741.1:c.2158G>A;NM_001666.4:c.2038G>A;NP_001158213.1:p.Val720Met;NP_001657.3:p.Val680Met 342561911 149610688 ESP2500-chrX-153175743 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153175745C>T;NG_013220.1:g.20970G>A;NM_001164741.1:c.2156G>A;NM_001666.4:c.2036G>A;NP_001158213.1:p.Arg719Gln;NP_001657.3:p.Arg679Gln 342561912 144406451 ESP2500-chrX-153175745 2.41e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175745C>T;NG_013220.1:g.20970G>A;NM_001164741.1:c.2156G>A;NM_001666.4:c.2036G>A;NP_001158213.1:p.Arg719Gln;NP_001657.3:p.Arg679Gln 489234726 144406451 20110521_exome_290560_chrX_153175745 2.41e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153175745C>T;NG_013220.1:g.20970G>A;NM_001164741.1:c.2156G>A;NM_001666.4:c.2036G>A;NP_001158213.1:p.Arg719Gln;NP_001657.3:p.Arg679Gln 491580702 144406451 nonsyn_296928_chr_X_153175745 2.41e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175750C>T;NG_013220.1:g.20965G>A;NM_001164741.1:c.2151G>A;NM_001666.4:c.2031G>A;NP_001158213.1:p.Gln717=;NP_001657.3:p.Gln677= 342561913 148797059 ESP2500-chrX-153175750 4.22e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175750C>T;NG_013220.1:g.20965G>A;NM_001164741.1:c.2151G>A;NM_001666.4:c.2031G>A;NP_001158213.1:p.Gln717=;NP_001657.3:p.Gln677= 489234728 148797059 20110521_exome_290561_chrX_153175750 4.22e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 ABI 393 NC_000023.10:g.153175763_153175764insG;NG_013220.1:g.20951_20952insC;NM_001164741.1:c.2137_2138insC;NM_001666.4:c.2017_2018insC;NP_001158213.1:p.Pro713delinsProGlyfs;NP_001657.3:p.Pro673delinsProGlyfs 43721026 34926983 hCV34424846 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153175784G>A;NG_013220.1:g.20931C>T;NM_001164741.1:c.2117C>T;NM_001666.4:c.1997C>T;NP_001158213.1:p.Pro706Leu;NP_001657.3:p.Pro666Leu 342561914 142533512 ESP2500-chrX-153175784 1.21e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175784G>A;NG_013220.1:g.20931C>T;NM_001164741.1:c.2117C>T;NM_001666.4:c.1997C>T;NP_001158213.1:p.Pro706Leu;NP_001657.3:p.Pro666Leu 467026484 142533512 20101123_snps_13193714_chrX_153175784 1.21e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153175784G>A;NG_013220.1:g.20931C>T;NM_001164741.1:c.2117C>T;NM_001666.4:c.1997C>T;NP_001158213.1:p.Pro706Leu;NP_001657.3:p.Pro666Leu 491580703 142533512 nonsyn_296929_chr_X_153175784 1.21e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175788G>A;NG_013220.1:g.20927C>T;NM_001164741.1:c.2113C>T;NM_001666.4:c.1993C>T;NP_001158213.1:p.Leu705=;NP_001657.3:p.Leu665= 342561915 147129912 ESP2500-chrX-153175788 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153175801G>A;NG_013220.1:g.20914C>T;NM_001164741.1:c.2100C>T;NM_001666.4:c.1980C>T;NP_001158213.1:p.Phe700=;NP_001657.3:p.Phe660= 342561916 140407938 ESP2500-chrX-153175801 1.81e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175801G>A;NG_013220.1:g.20914C>T;NM_001164741.1:c.2100C>T;NM_001666.4:c.1980C>T;NP_001158213.1:p.Phe700=;NP_001657.3:p.Phe660= 467026485 140407938 20101123_snps_13193715_chrX_153175801 1.81e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175801G>A;NG_013220.1:g.20914C>T;NM_001164741.1:c.2100C>T;NM_001666.4:c.1980C>T;NP_001158213.1:p.Phe700=;NP_001657.3:p.Phe660= 491205771 140407938 20110521_exome_713569_chrX_153175801 1.81e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153175813C>T;NG_013220.1:g.20902G>A;NM_001164741.1:c.2088G>A;NM_001666.4:c.1968G>A;NP_001158213.1:p.Leu696=;NP_001657.3:p.Leu656= 342561917 144269054 ESP2500-chrX-153175813 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153175870C>T;NG_013220.1:g.20845G>A;NM_001164741.1:c.2043-12G>A;NM_001666.4:c.1923-12G>A 489234730 200800907 20110521_exome_290562_chrX_153175870 1.81e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175893G>A;NG_013220.1:g.20822C>T;NM_001164741.1:c.2043-35C>T;NM_001666.4:c.1923-35C>T 489234732 199916184 20110521_exome_290563_chrX_153175893 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175911T>C;NG_013220.1:g.20804A>G;NM_001164741.1:c.2042+49A>G;NM_001666.4:c.1922+49A>G 489234734 201655920 20110521_exome_290564_chrX_153175911 3.01e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175949G>A;NG_013220.1:g.20766C>T;NM_001164741.1:c.2042+11C>T;NM_001666.4:c.1922+11C>T 467026486 187897015 20101123_snps_13193716_chrX_153175949 4.22e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153175949G>A;NG_013220.1:g.20766C>T;NM_001164741.1:c.2042+11C>T;NM_001666.4:c.1922+11C>T 491205772 187897015 20110521_exome_713570_chrX_153175949 4.22e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176001C>T;NG_013220.1:g.20714G>A;NM_001164741.1:c.2001G>A;NM_001666.4:c.1881G>A;NP_001158213.1:p.Pro667=;NP_001657.3:p.Pro627= 489234736 200936669 20110521_exome_290565_chrX_153176001 9.04e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176015G>A;NG_013220.1:g.20700C>T;NM_001164741.1:c.1987C>T;NM_001666.4:c.1867C>T;NP_001158213.1:p.Arg663Trp;NP_001657.3:p.Arg623Trp 489234738 200204617 20110521_exome_290566_chrX_153176015 4.22e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176095C>T;NG_013220.1:g.20620G>A;NM_001164741.1:c.1937-30G>A;NM_001666.4:c.1817-30G>A 467026487 193230449 20101123_snps_13193717_chrX_153176095 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176095C>T;NG_013220.1:g.20620G>A;NM_001164741.1:c.1937-30G>A;NM_001666.4:c.1817-30G>A 491205773 193230449 20110521_exome_713571_chrX_153176095 3.01e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 SEATTLESEQ 393 NC_000023.10:g.153176208G>C;NG_013220.1:g.20507C>G;NM_001164741.1:c.1882C>G;NM_001666.4:c.1762C>G;NP_001158213.1:p.Leu628Val;NP_001657.3:p.Leu588Val 159745985 74331897 ARHGAP4-152829402 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153176208G>C;NG_013220.1:g.20507C>G;NM_001164741.1:c.1882C>G;NM_001666.4:c.1762C>G;NP_001158213.1:p.Leu628Val;NP_001657.3:p.Leu588Val 491580704 74331897 nonsyn_296930_chr_X_153176208 2012.03.06 2012.03.06 2009.12.01 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176214G>A;NG_013220.1:g.20501C>T;NM_001164741.1:c.1876C>T;NM_001666.4:c.1756C>T;NP_001158213.1:p.Arg626Trp;NP_001657.3:p.Arg586Trp 489234740 202208300 20110521_exome_290567_chrX_153176214 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176230C>T;NG_013220.1:g.20485G>A;NM_001164741.1:c.1860G>A;NM_001666.4:c.1740G>A;NP_001158213.1:p.Val620=;NP_001657.3:p.Val580= 489234742 201564875 20110521_exome_290568_chrX_153176230 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 AFFX 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 2982259 2070097 AFFX_SNP-247 3.71e-01 2001.05.21 2003.10.10 2001.06.15 2012.11.28 137 YUSUKE 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 4474088 2070097 IMS-JST075032 3.71e-01 2002.06.06 2003.10.10 2001.06.15 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 8279543 2070097 NT_025965.9_515533 3.71e-01 2003.04.17 2004.05.16 2001.06.15 2012.11.28 137 CGAP-GAI 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 16240936 2070097 1479033 3.71e-01 2003.11.18 2003.11.22 2001.06.15 2012.11.28 137 CSHL-HAPMAP 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 18039294 2070097 CSHL-HuCC-200402.chrX.NT_025965.12_528229 3.71e-01 2004.02.20 2004.03.04 2001.06.15 2012.11.28 137 CSHL-HAPMAP 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 19814649 2070097 CSHL-HuDD-200402.chrX.NT_025965.12_528229 3.71e-01 2004.02.21 2004.03.04 2001.06.15 2012.11.28 137 SSAHASNP 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 21072094 2070097 WGSA-200403-chrX.chrX.NT_025965.12_528229 3.71e-01 2004.03.19 2004.03.19 2001.06.15 2012.11.28 137 MGC_GENOME_DIFF 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 28498878 2070097 37546492-A528229G 3.71e-01 2004.08.20 2004.08.20 2001.06.15 2012.11.28 137 MGC_GENOME_DIFF 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 28513859 2070097 BC052303x37546492-A528229G 3.71e-01 2004.08.25 2004.08.25 2001.06.15 2012.11.28 137 ABI 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 43576449 2070097 hCV15860681 3.71e-01 2005.07.18 2005.07.18 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 66741146 2070097 HumanHap300v1.1_rs2070097 3.71e-01 2006.11.09 2006.11.09 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 67221866 2070097 HumanHap550v1.1_rs2070097 3.71e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 67616284 2070097 HumanHap650Yv1.0_rs2070097 3.71e-01 2006.11.14 2006.11.14 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 70700157 2070097 HumanHap550v3.0__rs2070097 3.71e-01 2007.04.20 2008.03.30 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 71266178 2070097 HumanHap650Yv3.0_rs2070097 3.71e-01 2007.04.23 2007.04.23 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 75712820 2070097 ILMN_Human_1M_rs2070097 3.71e-01 2007.08.29 2007.08.29 2001.06.15 2012.11.28 137 HGSV 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 77317847 2070097 Cor12156_SNV_20070510.chrX_152697101 3.71e-01 2007.10.10 2007.10.12 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 79112155 2070097 HumanHap300v2.0_rs2070097 3.71e-01 2007.11.18 2007.11.18 2001.06.15 2012.11.28 137 KRIBB_YJKIM 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 83963948 2070097 KHS585991 3.71e-01 2007.12.06 2007.12.06 2001.06.15 2012.11.28 137 BGI 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 105777041 2070097 BGI_rs2070097 3.71e-01 2008.09.12 2009.06.19 2001.06.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 115335795 2070097 NA19240_2008_12_16_3585610_chrX_152829448 3.71e-01 2008.12.19 2008.12.19 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 121907595 2070097 HumanCNV370v1_C_rs2070097 3.71e-01 2009.04.14 2009.04.14 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 153842810 2070097 Human610_Quadv1_B_rs2070097-128_T_R_1501706331 3.71e-01 2009.06.19 2009.06.20 2001.06.15 2012.11.28 137 GMI 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 157804427 2070097 GMI_SNP_38747781 3.71e-01 2009.06.25 2009.06.25 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 159355708 2070097 Human660W-Quad_v1_A_rs2070097-128_T_R_1501706331 3.71e-01 2009.07.07 2009.07.07 2001.06.15 2012.11.28 137 SEATTLESEQ 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 159745986 2070097 ARHGAP4-152829448 3.71e-01 2009.07.10 2009.07.10 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 160497492 2070097 HumanOmni1-Quad_v1-0_B_rs2070097-128_T_R_1501706331 3.71e-01 2009.08.06 2009.10.02 2001.06.15 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 161779014 2070097 ENSSNP3113954 3.71e-01 2009.09.25 2009.09.25 2001.06.15 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 163350663 2070097 NA07022_36_chrX_152829448 3.71e-01 2009.09.29 2009.09.29 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 170995931 2070097 HumanCNV370-Quadv3_C_rs2070097-128_T_R_1501706331 3.71e-01 2009.10.01 2009.10.03 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 173094673 2070097 Human1M-Duov3_B_rs2070097-128_T_R_1501706331 3.71e-01 2009.10.03 2009.10.03 2001.06.15 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 204403545 2070097 BUSHMAN-chrX-152829447 3.71e-01 2010.03.10 2010.03.10 2001.06.15 2012.11.28 137 BCM-HGSC-SUB 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 208902962 2070097 BCM_CMT_1011-3358397 3.71e-01 2010.03.20 2010.03.20 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 244286762 2070097 CVDSNP55v1_A_rs2070097 3.71e-01 2010.06.10 2010.06.10 2001.06.15 2012.11.28 137 GMI 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 283908237 2070097 GMI_AK_SNP_8228719 3.71e-01 2010.12.16 2010.12.16 2001.06.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 341907752 2070097 20100804_snps_659423_chrX_153176254 3.71e-01 2011.03.25 2011.03.25 2001.06.15 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 342561918 2070097 ESP2500-chrX-153176254 3.71e-01 2011.03.27 2011.03.27 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 480409187 2070097 HumanOmni2.5-4v1_B_rs2070097-128_T_R_1690723763 3.71e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 480422462 2070097 HumanOmniExpress-12v1_C_rs2070097-131_T_R_1857104274 3.71e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 481204630 2070097 HumanOmni1-Quad_v1-0_C_rs2070097-131_T_R_1865609216 3.71e-01 2012.01.31 2012.01.31 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 482858299 2070097 HumanOmni2.5-4v1_D_kgp22818885-0_T_F_1860388909 3.71e-01 2012.02.02 2012.02.02 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 484350434 2070097 HumanOmni2.5-4v1_B_SNP23-152829448-0_T_F_1649820108 3.71e-01 2012.02.03 2012.02.03 2001.06.15 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 485002137 2070097 HumanOmni2.5-4v1_D_rs2070097-131_T_R_1857104274 3.71e-01 2012.02.04 2012.02.04 2001.06.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 491205774 2070097 20110521_exome_713572_chrX_153176254 3.71e-01 2012.02.22 2012.02.22 2001.06.15 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153176254A>G;NG_013220.1:g.20461T>C;NM_001164741.1:c.1836T>C;NM_001666.4:c.1716T>C;NP_001158213.1:p.His612=;NP_001657.3:p.His572= 491955384 2070097 SNV-chrX-152829448 3.71e-01 2012.03.07 2012.03.13 2001.06.15 2012.11.28 137 BCMHGSC_JDW 393 NC_000023.10:g.153176284C>T;NG_013220.1:g.20431G>A;NM_001164741.1:c.1806G>A;NM_001666.4:c.1686G>A;NP_001158213.1:p.Glu602=;NP_001657.3:p.Glu562= 94439726 62620965 JWB-3319854 3.62e-02 2008.03.06 2008.03.06 2008.03.25 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153176284C>T;NG_013220.1:g.20431G>A;NM_001164741.1:c.1806G>A;NM_001666.4:c.1686G>A;NP_001158213.1:p.Glu602=;NP_001657.3:p.Glu562= 144888656 62620965 ENSSNP13880990 3.62e-02 2009.06.07 2009.06.07 2008.03.25 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153176284C>T;NG_013220.1:g.20431G>A;NM_001164741.1:c.1806G>A;NM_001666.4:c.1686G>A;NP_001158213.1:p.Glu602=;NP_001657.3:p.Glu562= 342561919 62620965 ESP2500-chrX-153176284 3.62e-02 2011.03.27 2011.03.27 2008.03.25 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176284C>T;NG_013220.1:g.20431G>A;NM_001164741.1:c.1806G>A;NM_001666.4:c.1686G>A;NP_001158213.1:p.Glu602=;NP_001657.3:p.Glu562= 467026488 62620965 20101123_snps_13193718_chrX_153176284 3.62e-02 2011.07.20 2011.07.20 2008.03.25 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176284C>T;NG_013220.1:g.20431G>A;NM_001164741.1:c.1806G>A;NM_001666.4:c.1686G>A;NP_001158213.1:p.Glu602=;NP_001657.3:p.Glu562= 491205775 62620965 20110521_exome_713573_chrX_153176284 3.62e-02 2012.02.22 2012.02.22 2008.03.25 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153176284C>T;NG_013220.1:g.20431G>A;NM_001164741.1:c.1806G>A;NM_001666.4:c.1686G>A;NP_001158213.1:p.Glu602=;NP_001657.3:p.Glu562= 491955385 62620965 SNV-chrX-152829478 3.62e-02 2012.03.07 2012.03.13 2008.03.25 2012.11.28 137 LEE 393 NC_000023.10:g.153176421C>A;NG_013220.1:g.20294G>T;NM_001164741.1:c.1756G>T;NM_001666.4:c.1636G>T;NP_001158213.1:p.Gly586Cys;NP_001657.3:p.Gly546Cys 1510433 1042856 37008 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 393 NC_000023.10:g.153176421C>A;NG_013220.1:g.20294G>T;NM_001164741.1:c.1756G>T;NM_001666.4:c.1636G>T;NP_001158213.1:p.Gly586Cys;NP_001657.3:p.Gly546Cys 4390788 1042856 ge37008 2002.04.25 2003.10.10 2000.10.05 2011.07.08 137 LEE 393 NC_000023.10:g.153176421C>A;NG_013220.1:g.20294G>T;NM_001164741.1:c.1756G>T;NM_001666.4:c.1636G>T;NP_001158213.1:p.Gly586Cys;NP_001657.3:p.Gly546Cys 4404255 1042856 e37008 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 BCM-HGSC-SUB 393 NC_000023.10:g.153176533G>A;NG_013220.1:g.20182C>T;NM_001164741.1:c.1723+50C>T;NM_001666.4:c.1603+50C>T 208930491 112645237 BCM_CMT_1011-3385926 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153176561G>A;NG_013220.1:g.20154C>T;NM_001164741.1:c.1723+22C>T;NM_001666.4:c.1603+22C>T 467026489 189317801 20101123_snps_13193719_chrX_153176561 7.23e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176561G>A;NG_013220.1:g.20154C>T;NM_001164741.1:c.1723+22C>T;NM_001666.4:c.1603+22C>T 491205776 189317801 20110521_exome_713574_chrX_153176561 7.23e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 YUSUKE 393 NC_000023.10:g.153176574C>T;NG_013220.1:g.20141G>A;NM_001164741.1:c.1723+9G>A;NM_001666.4:c.1603+9G>A 4474089 3213441 IMS-JST075033 2002.06.06 2003.10.10 2002.07.03 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176574C>T;NG_013220.1:g.20141G>A;NM_001164741.1:c.1723+9G>A;NM_001666.4:c.1603+9G>A 160616336 3213441 HumanOmni1-Quad_v1-0_B_rs3213441-128_T_R_1577355660 2009.08.06 2009.10.04 2002.07.03 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153176574C>T;NG_013220.1:g.20141G>A;NM_001164741.1:c.1723+9G>A;NM_001666.4:c.1603+9G>A 481679889 3213441 HumanOmni1-Quad_v1-0_C_rs3213441-131_T_R_1863328815 2012.02.01 2012.02.01 2002.07.03 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176600C>T;NG_013220.1:g.20115G>A;NM_001164741.1:c.1706G>A;NM_001666.4:c.1586G>A;NP_001158213.1:p.Arg569His;NP_001657.3:p.Arg529His 489234744 200424312 20110521_exome_290569_chrX_153176600 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 AFFX 393 NC_000023.10:g.153176617C>G;NG_013220.1:g.20098G>C;NM_001164741.1:c.1689G>C;NM_001666.4:c.1569G>C;NP_001158213.1:p.Val563=;NP_001657.3:p.Val523= 2982260 2070098 AFFX_SNP-248 2001.05.21 2003.10.10 2001.06.15 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153176617C>G;NG_013220.1:g.20098G>C;NM_001164741.1:c.1689G>C;NM_001666.4:c.1569G>C;NP_001158213.1:p.Val563=;NP_001657.3:p.Val523= 342561920 2070098 ESP2500-chrX-153176617 2011.03.27 2011.03.27 2001.06.15 2011.07.08 137 DEVINE_LAB 393 NC_000023.10:g.153176707delT;NG_013220.1:g.20008delA;NM_001164741.1:c.1663-64delA;NM_001666.4:c.1543-64delA 15148992 10710691 INDEL_GP34_WGS_246087 2003.11.13 2003.11.22 2003.12.05 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153176707_153176708insT;NG_013220.1:g.20007_20008insA;NM_001164741.1:c.1663-65_1663-64insA;NM_001666.4:c.1543-65_1543-64insA 15353987 11464305 INDEL_GP34_WGS_505644 2003.11.14 2003.11.22 2004.02.28 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153176707delT;NG_013220.1:g.20008delA;NM_001164741.1:c.1663-64delA;NM_001666.4:c.1543-64delA 50328993 10710691 INDEL_GP35_WGS_599757 2006.01.24 2006.01.24 2003.12.05 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153176707delT;NG_013220.1:g.20008delA;NM_001164741.1:c.1663-64delA;NM_001666.4:c.1543-64delA 50338136 10710691 INDEL_GP35_WGS_611516 2006.01.24 2006.01.24 2003.12.05 2012.05.11 137 HGSV 393 NC_000023.10:g.153176707delT;NG_013220.1:g.20008delA;NM_001164741.1:c.1663-64delA;NM_001666.4:c.1543-64delA 82516340 10710691 Cor19240_DIV_20070510.chrX_152697575-152697577_1 2007.12.03 2007.12.03 2003.12.05 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153176707_153176708insT;NG_013220.1:g.20007_20008insA;NM_001164741.1:c.1663-65_1663-64insA;NM_001666.4:c.1543-65_1543-64insA 99340158 11464305 INDEL_GP36_2007a_130968_0 2008.05.05 2008.05.05 2004.02.28 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153176707delT;NG_013220.1:g.20008delA;NM_001164741.1:c.1663-64delA;NM_001666.4:c.1543-64delA 99371706 10710691 INDEL_GP36_2007a_277451_0 2008.05.05 2008.05.05 2003.12.05 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153176707delT;NG_013220.1:g.20008delA;NM_001164741.1:c.1663-64delA;NM_001666.4:c.1543-64delA 100692701 10710691 INDEL_GP36_2008a_277451_1 2008.05.17 2008.05.17 2003.12.05 2012.05.11 137 PJP 393 NC_000023.10:g.153176707delT;NG_013220.1:g.20008delA;NM_001164741.1:c.1663-64delA;NM_001666.4:c.1543-64delA 295468187 10710691 DIP_905891_chrX_152829923 2011.01.24 2011.01.24 2003.12.05 2012.05.11 137 SC_SNP 393 NC_000023.10:g.153176843T>G;NG_013220.1:g.19872A>C;NM_001164741.1:c.1663-200A>C;NM_001666.4:c.1543-200A>C 8229308 5945371 NT_025965.9_516122 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176916G>A;NG_013220.1:g.19799C>T;NM_001164741.1:c.1663-273C>T;NM_001666.4:c.1543-273C>T 341907753 150581735 20100804_snps_659424_chrX_153176916 6.03e-04 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 HGSV 393 NC_000023.10:g.153176930G>A;NG_013220.1:g.19785C>T;NM_001164741.1:c.1663-287C>T;NM_001666.4:c.1543-287C>T 77820547 56152269 Cor12156_SNV_20070510.chrX_152697777 2007.10.14 2007.10.14 2007.12.07 2011.07.08 137 WI_SSAHASNP 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 12036116 7881421 chrX.NT_025965.11_516238 4.89e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 HGSV 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 84259302 7881421 Cor18555_SNV_20070510.chrX_152697806 4.89e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 BGI 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 105777042 7881421 BGI_rs7881421 4.89e-01 2008.09.12 2009.06.19 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 115335800 7881421 NA19240_2008_12_16_3585611_chrX_152830153 4.89e-01 2008.12.19 2008.12.19 2003.07.11 2012.11.28 137 GMI 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 157804434 7881421 GMI_SNP_38707617 4.89e-01 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 163350669 7881421 NA07022_36_chrX_152830153 4.89e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 165815069 7881421 NA19240_36_chrX_152830153 4.89e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 204403546 7881421 BUSHMAN-chrX-152830152 4.89e-01 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 208901873 7881421 BCM_CMT_1011-3357308 4.89e-01 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 GMI 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 283908238 7881421 GMI_AK_SNP_8228720 4.89e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153176959T>A;NG_013220.1:g.19756A>T;NM_001164741.1:c.1663-316A>T;NM_001666.4:c.1543-316A>T 341907754 7881421 20100804_snps_659425_chrX_153176959 4.89e-01 2011.03.25 2011.03.25 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153177312T>C;NG_013220.1:g.19403A>G;NM_001164741.1:c.1663-669A>G;NM_001666.4:c.1543-669A>G 467026490 181311092 20101123_snps_13193720_chrX_153177312 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 393 NC_000023.10:g.153177322C>G;NG_013220.1:g.19393G>C;NM_001164741.1:c.1663-679G>C;NM_001666.4:c.1543-679G>C 283908239 199559507 GMI_AK_SNP_8228721 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 393 NC_000023.10:g.153177371_153177372insA;NG_013220.1:g.19343_19344insT;NM_001164741.1:c.1663-729_1663-728insT;NM_001666.4:c.1543-729_1543-728insT 100676998 71974776 INDEL_GP36_2008a_2193946_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 DEVINE_LAB 393 NC_000023.10:g.153177384_153177385insG;NG_013220.1:g.19330_19331insC;NM_001164741.1:c.1663-742_1663-741insC;NM_001666.4:c.1543-742_1543-741insC 15339556 11450812 INDEL_GP34_WGS_488867 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 HGSV 393 NC_000023.10:g.153177384_153177385insG;NG_013220.1:g.19330_19331insC;NM_001164741.1:c.1663-742_1663-741insC;NM_001666.4:c.1543-742_1543-741insC 81684167 11450812 Cor18956_DIV_20070510.chrX_152698231-152698232_1 2007.12.01 2007.12.01 2004.02.28 2012.11.28 137 GMI 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 157804438 74833747 GMI_SNP_199774674 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 165815077 74833747 NA19240_36_chrX_152830578 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 204403548 74833747 BUSHMAN-chrX-152830577 2010.03.10 2010.03.10 2009.12.01 2012.11.28 137 BCM-HGSC-SUB 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 208909487 74833747 BCM_CMT_1011-3364922 2010.03.20 2010.03.20 2009.12.01 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 212188187 74833747 YRI.trio.3.2010_1563042_chrX_152830578 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 GMI 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 283908240 74833747 GMI_AK_SNP_8228722 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 GMI 393 NC_000023.10:g.153177384_153177385insG;NG_013220.1:g.19330_19331insC;NM_001164741.1:c.1663-742_1663-741insC;NM_001666.4:c.1543-742_1543-741insC 478865213 11450812 GMI_AK_INDEL_1168056 2011.12.31 2011.12.31 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 482727059 74833747 HumanOmni2.5-4v1_D_kgp22774916-0_B_R_1860522667 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153177384A>G;NG_013220.1:g.19331T>C;NM_001164741.1:c.1663-741T>C;NM_001666.4:c.1543-741T>C 484350436 74833747 HumanOmni2.5-4v1_B_SNP23-152830578-0_B_R_1650357793 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153177385_153177386insG;NG_013220.1:g.19329_19330insC;NM_001164741.1:c.1663-743_1663-742insC;NM_001666.4:c.1543-743_1543-742insC 99344794 66746177 INDEL_GP36_2007a_460724_0 2008.05.05 2008.05.05 2009.02.04 2011.07.08 137 DEVINE_LAB 393 NC_000023.10:g.153177385_153177386insG;NG_013220.1:g.19329_19330insC;NM_001164741.1:c.1663-743_1663-742insC;NM_001666.4:c.1543-743_1543-742insC 100391428 66746177 INDEL_GP36_2008a_460724_1 2008.05.16 2008.05.16 2009.02.04 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153177408G>A;NG_013220.1:g.19307C>T;NM_001164741.1:c.1662+746C>T;NM_001666.4:c.1542+746C>T 467026491 183971909 20101123_snps_13193721_chrX_153177408 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153177470C>T;NG_013220.1:g.19245G>A;NM_001164741.1:c.1662+684G>A;NM_001666.4:c.1542+684G>A 467026492 188653359 20101123_snps_13193722_chrX_153177470 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153177472A>G;NG_013220.1:g.19243T>C;NM_001164741.1:c.1662+682T>C;NM_001666.4:c.1542+682T>C 467026493 181722597 20101123_snps_13193723_chrX_153177472 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153177594_153177595delTT;NG_013220.1:g.19120_19121delAA;NM_001164741.1:c.1662+559_1662+560delAA;NM_001666.4:c.1542+559_1542+560delAA 500142540 201254805 20110316_indels_chrX_153177593_153177594 7.84e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153177595T>C;NG_013220.1:g.19120A>G;NM_001164741.1:c.1662+559A>G;NM_001666.4:c.1542+559A>G 341907755 145329365 20100804_snps_659426_chrX_153177595 6.63e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153177609G>A;NG_013220.1:g.19106C>T;NM_001164741.1:c.1662+545C>T;NM_001666.4:c.1542+545C>T 467026494 186026622 20101123_snps_13193724_chrX_153177609 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153177854G>A;NG_013220.1:g.18861C>T;NM_001164741.1:c.1662+300C>T;NM_001666.4:c.1542+300C>T 467026495 192039315 20101123_snps_13193725_chrX_153177854 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 393 NC_000023.10:g.153178179C>T;NG_013220.1:g.18536G>A;NM_001164741.1:c.1637G>A;NM_001666.4:c.1517G>A;NP_001158213.1:p.Gly546Glu;NP_001657.3:p.Gly506Glu 43566881 34279017 hCV2611422 2005.07.18 2005.07.18 2006.03.13 2011.09.09 137 ILLUMINA 393 NC_000023.10:g.153178179C>T;NG_013220.1:g.18536G>A;NM_001164741.1:c.1637G>A;NM_001666.4:c.1517G>A;NP_001158213.1:p.Gly546Glu;NP_001657.3:p.Gly506Glu 74967019 34279017 ILMN_Human_1M_rs34279017 2007.08.29 2007.08.29 2006.03.13 2011.09.09 137 KRIBB_YJKIM 393 NC_000023.10:g.153178179C>T;NG_013220.1:g.18536G>A;NM_001164741.1:c.1637G>A;NM_001666.4:c.1517G>A;NP_001158213.1:p.Gly546Glu;NP_001657.3:p.Gly506Glu 119909738 34279017 KHS1913060 2009.02.05 2009.02.05 2006.03.13 2011.09.09 137 ENSEMBL 393 NC_000023.10:g.153178179C>T;NG_013220.1:g.18536G>A;NM_001164741.1:c.1637G>A;NM_001666.4:c.1517G>A;NP_001158213.1:p.Gly546Glu;NP_001657.3:p.Gly506Glu 133989829 34279017 ENSSNP3113955 2009.05.13 2009.10.14 2006.03.13 2011.09.09 137 ILLUMINA 393 NC_000023.10:g.153178179C>T;NG_013220.1:g.18536G>A;NM_001164741.1:c.1637G>A;NM_001666.4:c.1517G>A;NP_001158213.1:p.Gly546Glu;NP_001657.3:p.Gly506Glu 173587157 34279017 Human1M-Duov3_B_rs34279017-128_B_F_1513937376 2009.10.04 2009.10.04 2006.03.13 2011.09.09 137 PJP 393 NC_000023.10:g.153178179C>T;NG_013220.1:g.18536G>A;NM_001164741.1:c.1637G>A;NM_001666.4:c.1517G>A;NP_001158213.1:p.Gly546Glu;NP_001657.3:p.Gly506Glu 294528115 34279017 SNP_4034473_chrX_152831373 2011.01.21 2011.01.21 2006.03.13 2011.09.09 137 EXOME_CHIP 393 NC_000023.10:g.153178209G>A;NG_013220.1:g.18506C>T;NM_001164741.1:c.1607C>T;NM_001666.4:c.1487C>T;NP_001158213.1:p.Pro536Leu;NP_001657.3:p.Pro496Leu 491580705 201338822 nonsyn_296931_chr_X_153178209 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 1000GENOMES 393 NC_000023.10:g.153178317C>T;NG_013220.1:g.18398G>A;NM_001164741.1:c.1560-61G>A;NM_001666.4:c.1440-61G>A 467026496 182260926 20101123_snps_13193726_chrX_153178317 6.03e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153178423G>A;NG_013220.1:g.18292C>T;NM_001164741.1:c.1559+55C>T;NM_001666.4:c.1439+55C>T 467026497 186003379 20101123_snps_13193727_chrX_153178423 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153178447delC;NG_013220.1:g.18268delG;NM_001164741.1:c.1559+31delG;NM_001666.4:c.1439+31delG 500142545 200697971 20110316_indels_chrX_153178446_153178446 1.69e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153178453G>A;NG_013220.1:g.18262C>T;NM_001164741.1:c.1559+25C>T;NM_001666.4:c.1439+25C>T 489234746 199594389 20110521_exome_290570_chrX_153178453 3.62e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GMI 393 NC_000023.10:g.153178459_153178460insC;NG_013220.1:g.18255_18256insG;NM_001164741.1:c.1559+18_1559+19insG;NM_001666.4:c.1439+18_1439+19insG 155884995 77485258 GMI_INDEL-170007 1.21e-03 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 BL 393 NC_000023.10:g.153178459_153178460insC;NG_013220.1:g.18255_18256insG;NM_001164741.1:c.1559+18_1559+19insG;NM_001666.4:c.1439+18_1439+19insG 256216806 77485258 SNP6548_X_152831653 1.21e-03 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 GMI 393 NC_000023.10:g.153178459_153178460insC;NG_013220.1:g.18255_18256insG;NM_001164741.1:c.1559+18_1559+19insG;NM_001666.4:c.1439+18_1439+19insG 478865214 77485258 GMI_AK_INDEL_1168057 1.21e-03 2011.12.31 2011.12.31 2009.12.01 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153178459_153178460insC;NG_013220.1:g.18255_18256insG;NM_001164741.1:c.1559+18_1559+19insG;NM_001666.4:c.1439+18_1439+19insG 500142549 77485258 20110316_indels_chrX_153178459_153178460 1.21e-03 2012.03.20 2012.03.20 2009.12.01 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 8175278 5904376 INDEL_GP31_92263 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 15270318 5904376 INDEL_GP34_WGS_408377 2003.11.13 2003.11.22 2003.04.21 2012.11.28 137 ABI 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 43717464 5904376 hCV34424842 2005.07.18 2005.07.18 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 49893786 5904376 INDEL_GP35_TSC_75297 2006.01.23 2006.01.23 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 49899854 5904376 INDEL_GP35_TSC_83400 2006.01.23 2006.01.23 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 50259326 5904376 INDEL_GP35_WGS_509475 2006.01.24 2006.01.24 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 94591552 5904376 INDEL_GP36_2008a_150249_1 2008.03.06 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 99781047 5904376 INDEL_GP36_2007a_150249_0 2008.05.06 2008.05.06 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 100367104 5904376 INDEL_GP36_2008a_968972_0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 100367107 5904376 INDEL_GP36_2008a_968972_1 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 100367111 5904376 INDEL_GP36_2008a_968972_2 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 100367113 5904376 INDEL_GP36_2008a_968972_3 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 BGI 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 104796125 5904376 BGI_rs33981020 2008.06.09 2008.06.09 2003.04.21 2012.11.28 137 BGI 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 105551127 5904376 BGI_YHIndelrs33981020 2008.09.10 2009.06.16 2003.04.21 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 194072742 5904376 BUSHMAN-chrX-152831656-152831656 2010.02.17 2010.02.17 2003.04.21 2012.11.28 137 GMI 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 288570811 5904376 GMI_NA10851_INDEL_319135 2010.12.22 2010.12.22 2003.04.21 2012.11.28 137 PJP 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 295468188 5904376 DIP_905892_chrX_152831654 2011.01.24 2011.01.24 2003.04.21 2012.11.28 137 PJP 393 NC_000023.10:g.153178460_153178461insC;NG_013220.1:g.18254_18255insG;NM_001164741.1:c.1559+17_1559+18insG;NM_001666.4:c.1439+17_1439+18insG 295468189 5904376 DIP_905893_chrX_152831656 2011.01.24 2011.01.24 2003.04.21 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153178598G>A;NG_013220.1:g.18117C>T;NM_001164741.1:c.1531+74C>T;NM_001666.4:c.1411+74C>T 204403549 112925383 BUSHMAN-chrX-152831791 4.22e-03 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153178598G>A;NG_013220.1:g.18117C>T;NM_001164741.1:c.1531+74C>T;NM_001666.4:c.1411+74C>T 341907756 112925383 20100804_snps_659427_chrX_153178598 4.22e-03 2011.03.25 2011.03.25 2010.07.04 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153178721G>T;NG_013220.1:g.17994C>A;NM_001164741.1:c.1482C>A;NM_001666.4:c.1362C>A;NP_001158213.1:p.Leu494=;NP_001657.3:p.Leu454= 144888665 75561437 ENSSNP13880991 2009.06.07 2009.06.07 2009.12.01 2011.09.09 137 CLINSEQ_SNP 393 NC_000023.10:g.153178839G>A;NG_013220.1:g.17876C>T;NM_001164741.1:c.1446+24C>T;NM_001666.4:c.1326+24C>T 491955386 201595337 SNV-chrX-152832033 2012.03.07 2012.03.13 2012.05.04 2012.05.04 137 EXOME_CHIP 393 NC_000023.10:g.153178861A>C;NG_013220.1:g.17854T>G;NM_001164741.1:c.1446+2T>G;NM_001666.4:c.1326+2T>G 491580706 199835048 splice_296932_chr_X_153178861 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 NHLBI-ESP 393 NC_000023.10:g.153178899G>A;NG_013220.1:g.17816C>T;NM_001164741.1:c.1410C>T;NM_001666.4:c.1290C>T;NP_001158213.1:p.Arg470=;NP_001657.3:p.Arg430= 342561921 145134760 ESP2500-chrX-153178899 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153178929G>A;NG_013220.1:g.17786C>T;NM_001164741.1:c.1380C>T;NM_001666.4:c.1260C>T;NP_001158213.1:p.Asp460=;NP_001657.3:p.Asp420= 342561922 149100821 ESP2500-chrX-153178929 1.21e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153178929G>A;NG_013220.1:g.17786C>T;NM_001164741.1:c.1380C>T;NM_001666.4:c.1260C>T;NP_001158213.1:p.Asp460=;NP_001657.3:p.Asp420= 467026498 149100821 20101123_snps_13193728_chrX_153178929 1.21e-03 2011.07.20 2011.07.20 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153178929G>A;NG_013220.1:g.17786C>T;NM_001164741.1:c.1380C>T;NM_001666.4:c.1260C>T;NP_001158213.1:p.Asp460=;NP_001657.3:p.Asp420= 491205777 149100821 20110521_exome_713575_chrX_153178929 1.21e-03 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153178929G>A;NG_013220.1:g.17786C>T;NM_001164741.1:c.1380C>T;NM_001666.4:c.1260C>T;NP_001158213.1:p.Asp460=;NP_001657.3:p.Asp420= 491955387 149100821 SNV-chrX-152832123 1.21e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153178947G>C;NG_013220.1:g.17768C>G;NM_001164741.1:c.1362C>G;NM_001666.4:c.1242C>G;NP_001158213.1:p.Leu454=;NP_001657.3:p.Leu414= 489234748 201645356 20110521_exome_290571_chrX_153178947 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153179030G>A;NG_013220.1:g.17685C>T;NM_001164741.1:c.1279C>T;NM_001666.4:c.1159C>T;NP_001158213.1:p.Leu427=;NP_001657.3:p.Leu387= 342561923 144989746 ESP2500-chrX-153179030 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153179035G>A;NG_013220.1:g.17680C>T;NM_001164741.1:c.1274C>T;NM_001666.4:c.1154C>T;NP_001158213.1:p.Ala425Val;NP_001657.3:p.Ala385Val 489234750 200790794 20110521_exome_290572_chrX_153179035 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153179087G>T;NG_013220.1:g.17628C>A;NM_001164741.1:c.1255-33C>A;NM_001666.4:c.1135-33C>A 467026499 182197969 20101123_snps_13193729_chrX_153179087 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153179087G>T;NG_013220.1:g.17628C>A;NM_001164741.1:c.1255-33C>A;NM_001666.4:c.1135-33C>A 491205778 182197969 20110521_exome_713576_chrX_153179087 1.81e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153179106A>C;NG_013220.1:g.17609T>G;NM_001164741.1:c.1255-52T>G;NM_001666.4:c.1135-52T>G 204403550 113431005 BUSHMAN-chrX-152832299 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153179212C>G;NG_013220.1:g.17503G>C;NM_001164741.1:c.1254+20G>C;NM_001666.4:c.1134+20G>C 489234752 199899790 20110521_exome_290573_chrX_153179212 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153179300C>T;NG_013220.1:g.17415G>A;NM_001164741.1:c.1186G>A;NM_001666.4:c.1066G>A;NP_001158213.1:p.Asp396Asn;NP_001657.3:p.Asp356Asn 342561924 138798744 ESP2500-chrX-153179300 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 BUSHMAN 393 NC_000023.10:g.153179390A>G;NG_013220.1:g.17325T>C;NM_001164741.1:c.1153-57T>C;NM_001666.4:c.1033-57T>C 204403552 113296455 BUSHMAN-chrX-152832583 6.63e-03 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153179390A>G;NG_013220.1:g.17325T>C;NM_001164741.1:c.1153-57T>C;NM_001666.4:c.1033-57T>C 341907757 113296455 20100804_snps_659428_chrX_153179390 6.63e-03 2011.03.25 2011.03.25 2010.07.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153179530C>T;NG_013220.1:g.17185G>A;NM_001164741.1:c.1153-197G>A;NM_001666.4:c.1033-197G>A 467026500 187168090 20101123_snps_13193730_chrX_153179530 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153179894A>G;NG_013220.1:g.16821T>C;NM_001164741.1:c.1153-561T>C;NM_001666.4:c.1033-561T>C 467026501 190048382 20101123_snps_13193731_chrX_153179894 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153179921G>A;NG_013220.1:g.16794C>T;NM_001164741.1:c.1153-588C>T;NM_001666.4:c.1033-588C>T 467026502 182976382 20101123_snps_13193732_chrX_153179921 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 6769018 4898460 NT_025965.9_519215 3.63e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 8229309 4898460 NT_025965.9_519215 3.63e-01 2003.04.17 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 12055584 4898460 chrX.NT_025965.11_519215 3.63e-01 2003.07.04 2006.10.25 2003.02.20 2012.11.28 137 PERLEGEN 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 69268781 4898460 PGP04581444 3.63e-01 2007.01.30 2008.03.31 2003.02.20 2012.11.28 137 HGSV 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 82224969 4898460 Cor18555_SNV_20070510.chrX_152700783 3.63e-01 2007.12.02 2007.12.02 2003.02.20 2012.11.28 137 HGSV 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 82779555 4898460 Cor19240_SNV_20070510.chrX_152700783 3.63e-01 2007.12.03 2007.12.03 2003.02.20 2012.11.28 137 HGSV 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 84842610 4898460 Cor19129_SNV_20070510.chrX_152700783 3.63e-01 2007.12.08 2007.12.08 2003.02.20 2012.11.28 137 BCMHGSC_JDW 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 94439730 4898460 JWB-2714098 3.63e-01 2008.03.06 2008.03.06 2003.02.20 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 115668828 4898460 NA18507_000086232_NCBI36.1_chrX_152833130 3.63e-01 2009.01.15 2009.01.15 2003.02.20 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 144888671 4898460 ENSSNP7277045 3.63e-01 2009.06.07 2009.06.07 2003.02.20 2012.11.28 137 GMI 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 157804448 4898460 GMI_SNP_38269827 3.63e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 163350675 4898460 NA07022_36_chrX_152833130 3.63e-01 2009.09.29 2009.09.29 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 165815085 4898460 NA19240_36_chrX_152833130 3.63e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 204403553 4898460 BUSHMAN-chrX-152833129 3.63e-01 2010.03.10 2010.03.10 2003.02.20 2012.11.28 137 BL 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 256154159 4898460 SNP61307_X_152833130 3.63e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 283908241 4898460 GMI_AK_SNP_8228723 3.63e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 294528116 4898460 SNP_4034474_chrX_152833130 3.63e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153179936A>G;NG_013220.1:g.16779T>C;NM_001164741.1:c.1153-603T>C;NM_001666.4:c.1033-603T>C 341907758 4898460 20100804_snps_659429_chrX_153179936 3.63e-01 2011.03.25 2011.03.25 2003.02.20 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153179969G>A;NG_013220.1:g.16746C>T;NM_001164741.1:c.1153-636C>T;NM_001666.4:c.1033-636C>T 467026503 187272614 20101123_snps_13193733_chrX_153179969 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153180044G>A;NG_013220.1:g.16671C>T;NM_001164741.1:c.1153-711C>T;NM_001666.4:c.1033-711C>T 467026504 193113892 20101123_snps_13193734_chrX_153180044 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 393 NC_000023.10:g.153180066G>C;NG_013220.1:g.16649C>G;NM_001164741.1:c.1153-733C>G;NM_001666.4:c.1033-733C>G 208929210 111513434 BCM_CMT_1011-3384645 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153180248G>A;NG_013220.1:g.16467C>T;NM_001164741.1:c.1153-915C>T;NM_001666.4:c.1033-915C>T 341907760 149013675 20100804_snps_659431_chrX_153180248 0 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153180404A>G;NG_013220.1:g.16311T>C;NM_001164741.1:c.1153-1071T>C;NM_001666.4:c.1033-1071T>C 467026505 183894720 20101123_snps_13193735_chrX_153180404 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153180466C>T;NG_013220.1:g.16249G>A;NM_001164741.1:c.1153-1133G>A;NM_001666.4:c.1033-1133G>A 341907761 143829597 20100804_snps_659432_chrX_153180466 7.84e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153180516C>T;NG_013220.1:g.16199G>A;NM_001164741.1:c.1153-1183G>A;NM_001666.4:c.1033-1183G>A 341907762 151106824 20100804_snps_659433_chrX_153180516 6.03e-04 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 HGSV 393 NC_000023.10:g.153180520T>C;NG_013220.1:g.16195A>G;NM_001164741.1:c.1153-1187A>G;NM_001666.4:c.1033-1187A>G 85466219 58300407 Cor19129_SNV_20070510.chrX_152701367 4.82e-02 2007.12.09 2007.12.09 2007.12.15 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153180520T>C;NG_013220.1:g.16195A>G;NM_001164741.1:c.1153-1187A>G;NM_001666.4:c.1033-1187A>G 115668829 58300407 NA18507_000086233_NCBI36.1_chrX_152833714 4.82e-02 2009.01.15 2009.01.15 2007.12.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153180520T>C;NG_013220.1:g.16195A>G;NM_001164741.1:c.1153-1187A>G;NM_001666.4:c.1033-1187A>G 341907763 58300407 20100804_snps_659434_chrX_153180520 4.82e-02 2011.03.25 2011.03.25 2007.12.15 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153180533C>A;NG_013220.1:g.16182G>T;NM_001164741.1:c.1153-1200G>T;NM_001666.4:c.1033-1200G>T 115668830 73640841 NA18507_000086234_NCBI36.1_chrX_152833727 3.01e-03 2009.01.15 2009.01.15 2009.02.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153180533C>A;NG_013220.1:g.16182G>T;NM_001164741.1:c.1153-1200G>T;NM_001666.4:c.1033-1200G>T 467026506 73640841 20101123_snps_13193736_chrX_153180533 3.01e-03 2011.07.20 2011.07.20 2009.02.14 2012.11.28 137 GMI 393 NC_000023.10:g.153180638G>A;NG_013220.1:g.16077C>T;NM_001164741.1:c.1153-1305C>T;NM_001666.4:c.1033-1305C>T 283908242 144563647 GMI_AK_SNP_8228724 6.09e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153180638G>A;NG_013220.1:g.16077C>T;NM_001164741.1:c.1153-1305C>T;NM_001666.4:c.1033-1305C>T 341907764 144563647 20100804_snps_659435_chrX_153180638 6.09e-02 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153180668G>C;NC_000023.10:g.153180668G>T;NG_013220.1:g.16047C>A;NG_013220.1:g.16047C>G;NM_001164741.1:c.1153-1335C>A;NM_001164741.1:c.1153-1335C>G;NM_001666.4:c.1033-1335C>A;NM_001666.4:c.1033-1335C>G 8546905 6643801 NT_025965.11_519947 5.42e-03 2003.05.23 2003.10.10 2003.07.11 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153180668G>C;NC_000023.10:g.153180668G>T;NG_013220.1:g.16047C>A;NG_013220.1:g.16047C>G;NM_001164741.1:c.1153-1335C>A;NM_001164741.1:c.1153-1335C>G;NM_001666.4:c.1033-1335C>A;NM_001666.4:c.1033-1335C>G 204403554 6643801 BUSHMAN-chrX-152833861 5.42e-03 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153180668G>C;NC_000023.10:g.153180668G>T;NG_013220.1:g.16047C>A;NG_013220.1:g.16047C>G;NM_001164741.1:c.1153-1335C>A;NM_001164741.1:c.1153-1335C>G;NM_001666.4:c.1033-1335C>A;NM_001666.4:c.1033-1335C>G 467026507 6643801 20101123_snps_13193737_chrX_153180668 5.42e-03 2011.07.20 2011.07.20 2003.07.11 2012.11.28 137 GMI 393 NC_000023.10:g.153180677_153180678insG;NG_013220.1:g.16037_16038insC;NM_001164741.1:c.1153-1345_1153-1344insC;NM_001666.4:c.1033-1345_1033-1344insC 478865215 199568503 GMI_AK_INDEL_1168058 2011.12.31 2011.12.31 2012.05.04 2012.05.04 137 ABI 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 43593036 34635851 hCV34424841 2005.07.18 2005.07.18 2006.03.14 2012.05.11 137 HGSV 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 81676674 34635851 Cor19129_DIV_20070510.chrX_152701527-152701528_1 2007.12.01 2007.12.01 2006.03.14 2012.05.11 137 HGSV 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 81677171 34635851 Cor19129_DIV_20070510.chrX_152701527-152701528_2 2007.12.01 2007.12.01 2006.03.14 2012.05.11 137 HGSV 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 81735642 34635851 Cor18555_DIV_20070510.chrX_152701527-152701528_1 2007.12.01 2007.12.01 2006.03.14 2012.05.11 137 HGSV 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 83219640 34635851 Cor19240_DIV_20070510.chrX_152701527-152701528_1 2007.12.04 2007.12.04 2006.03.14 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 100252642 34635851 INDEL_GP36_2008a_1108017_0 2008.05.16 2008.05.16 2006.03.14 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 100252646 34635851 INDEL_GP36_2008a_1108017_1 2008.05.16 2008.05.16 2006.03.14 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 100252649 34635851 INDEL_GP36_2008a_1108017_2 2008.05.16 2008.05.16 2006.03.14 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 100252652 34635851 INDEL_GP36_2008a_1108017_3 2008.05.16 2008.05.16 2006.03.14 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 100252654 34635851 INDEL_GP36_2008a_1108017_4 2008.05.16 2008.05.16 2006.03.14 2012.05.11 137 PJP 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 295468190 34635851 DIP_905894_chrX_152833872 2011.01.24 2011.01.24 2006.03.14 2012.05.11 137 PJP 393 NC_000023.10:g.153180678_153180679insG;NG_013220.1:g.16036_16037insC;NM_001164741.1:c.1153-1346_1153-1345insC;NM_001666.4:c.1033-1346_1033-1345insC 295468191 34635851 DIP_905895_chrX_152833874 2011.01.24 2011.01.24 2006.03.14 2012.05.11 137 ABI 393 NC_000023.10:g.153180698_153180699insG;NG_013220.1:g.16016_16017insC;NM_001164741.1:c.1153-1366_1153-1365insC;NM_001666.4:c.1033-1366_1033-1365insC 43859857 35105833 hCV34424840 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 CSHL-HAPMAP 393 NC_000023.10:g.153180755T>C;NG_013220.1:g.15960A>G;NM_001164741.1:c.1153-1422A>G;NM_001666.4:c.1033-1422A>G 19813867 12557851 CSHL-HuDD-200402.chrX.NT_025965.12_532730 2.77e-02 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ABI 393 NC_000023.10:g.153180755T>C;NG_013220.1:g.15960A>G;NM_001164741.1:c.1153-1422A>G;NM_001666.4:c.1033-1422A>G 43764279 12557851 hCV2611423 2.77e-02 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 BGI 393 NC_000023.10:g.153180755T>C;NG_013220.1:g.15960A>G;NM_001164741.1:c.1153-1422A>G;NM_001666.4:c.1033-1422A>G 105777043 12557851 BGI_rs12557851 2.77e-02 2008.09.12 2009.06.19 2004.02.28 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153180755T>C;NG_013220.1:g.15960A>G;NM_001164741.1:c.1153-1422A>G;NM_001666.4:c.1033-1422A>G 161779015 12557851 ENSSNP3113956 2.77e-02 2009.09.25 2010.03.07 2004.02.28 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153180755T>C;NG_013220.1:g.15960A>G;NM_001164741.1:c.1153-1422A>G;NM_001666.4:c.1033-1422A>G 204403556 12557851 BUSHMAN-chrX-152833948 2.77e-02 2010.03.10 2010.03.10 2004.02.28 2012.11.28 137 GMI 393 NC_000023.10:g.153180755T>C;NG_013220.1:g.15960A>G;NM_001164741.1:c.1153-1422A>G;NM_001666.4:c.1033-1422A>G 283908243 12557851 GMI_AK_SNP_8228725 2.77e-02 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153180755T>C;NG_013220.1:g.15960A>G;NM_001164741.1:c.1153-1422A>G;NM_001666.4:c.1033-1422A>G 341907765 12557851 20100804_snps_659436_chrX_153180755 2.77e-02 2011.03.25 2011.03.25 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 393 NC_000023.10:g.153180930G>A;NG_013220.1:g.15785C>T;NM_001164741.1:c.1153-1597C>T;NM_001666.4:c.1033-1597C>T 208931554 111265666 BCM_CMT_1011-3386989 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 BUSHMAN 393 NC_000023.10:g.153180971C>T;NG_013220.1:g.15744G>A;NM_001164741.1:c.1153-1638G>A;NM_001666.4:c.1033-1638G>A 204403557 113818587 BUSHMAN-chrX-152834164 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153181486G>A;NG_013220.1:g.15229C>T;NM_001164741.1:c.1153-2153C>T;NM_001666.4:c.1033-2153C>T 467026508 183739990 20101123_snps_13193738_chrX_153181486 6.03e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153181591C>T;NG_013220.1:g.15124G>A;NM_001164741.1:c.1153-2258G>A;NM_001666.4:c.1033-2258G>A 467026509 188803905 20101123_snps_13193739_chrX_153181591 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 393 NC_000023.10:g.153181643C>T;NG_013220.1:g.15072G>A;NM_001164741.1:c.1153-2310G>A;NM_001666.4:c.1033-2310G>A 208940740 111748064 BCM_CMT_1011-3396175 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 BUSHMAN 393 NC_000023.10:g.153181707A>G;NG_013220.1:g.15008T>C;NM_001164741.1:c.1153-2374T>C;NM_001666.4:c.1033-2374T>C 204403559 113510544 BUSHMAN-chrX-152834900 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 ABI 393 NC_000023.10:g.153181770_153181771insC;NG_013220.1:g.14944_14945insG;NM_001164741.1:c.1153-2438_1153-2437insG;NM_001666.4:c.1033-2438_1033-2437insG 43895837 34995015 hCV34424839 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 SC_JCM 393 NC_000023.10:g.153181841G>C;NG_013220.1:g.14874C>G;NM_001164741.1:c.1152+2445C>G;NM_001666.4:c.1032+2445C>G 4042745 2855585 U52112.1_69324 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 SC_JCM 393 NC_000023.10:g.153181842C>G;NG_013220.1:g.14873G>C;NM_001164741.1:c.1152+2444G>C;NM_001666.4:c.1032+2444G>C 4045828 2857835 Z68128.1_13243 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153181878T>G;NG_013220.1:g.14837A>C;NM_001164741.1:c.1152+2408A>C;NM_001666.4:c.1032+2408A>C 341907766 141626240 20100804_snps_659437_chrX_153181878 6.03e-04 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153182031C>T;NG_013220.1:g.14684G>A;NM_001164741.1:c.1152+2255G>A;NM_001666.4:c.1032+2255G>A 467026510 191686161 20101123_snps_13193740_chrX_153182031 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153182191C>T;NG_013220.1:g.14524G>A;NM_001164741.1:c.1152+2095G>A;NM_001666.4:c.1032+2095G>A 467026511 184603192 20101123_snps_13193741_chrX_153182191 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153182233A>C;NG_013220.1:g.14482T>G;NM_001164741.1:c.1152+2053T>G;NM_001666.4:c.1032+2053T>G 341907767 145484537 20100804_snps_659438_chrX_153182233 0 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153182253C>T;NG_013220.1:g.14462G>A;NM_001164741.1:c.1152+2033G>A;NM_001666.4:c.1032+2033G>A 467026512 190090573 20101123_snps_13193742_chrX_153182253 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 393 NC_000023.10:g.153182533G>A;NG_013220.1:g.14182C>T;NM_001164741.1:c.1152+1753C>T;NM_001666.4:c.1032+1753C>T 208939024 112740567 BCM_CMT_1011-3394459 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 SC_SNP 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 8279544 5987181 NT_025965.9_521842 4.65e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 WI_SSAHASNP 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 12026974 5987181 chrX.NT_025965.11_521842 4.65e-01 2003.07.04 2003.10.10 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 82823599 5987181 Cor18555_SNV_20070510.chrX_152703410 4.65e-01 2007.12.03 2007.12.03 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 83503460 5987181 Cor19240_SNV_20070510.chrX_152703410 4.65e-01 2007.12.05 2007.12.05 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 85310984 5987181 Cor19129_SNV_20070510.chrX_152703410 4.65e-01 2007.12.09 2007.12.09 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 163350681 5987181 NA07022_36_chrX_152835757 4.65e-01 2009.09.29 2009.09.29 2003.04.21 2012.11.28 137 BCM-HGSC-SUB 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 208915835 5987181 BCM_CMT_1011-3371270 4.65e-01 2010.03.20 2010.03.20 2003.04.21 2012.11.28 137 GMI 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 283908244 5987181 GMI_AK_SNP_8228726 4.65e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 294528117 5987181 SNP_4034475_chrX_152835757 4.65e-01 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153182563A>G;NG_013220.1:g.14152T>C;NM_001164741.1:c.1152+1723T>C;NM_001666.4:c.1032+1723T>C 341907768 5987181 20100804_snps_659439_chrX_153182563 4.65e-01 2011.03.25 2011.03.25 2003.04.21 2012.11.28 137 WI_SSAHASNP 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 6769019 4898461 NT_025965.9_521940 4.48e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 8228992 4898461 NT_025965.9_521940 4.48e-01 2003.04.17 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 12053736 4898461 chrX.NT_025965.11_521940 4.48e-01 2003.07.04 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 14368742 4898461 chrX.NT_025965.12_534636 4.48e-01 2003.11.07 2003.11.22 2003.02.20 2012.11.28 137 HGSV 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 83836434 4898461 Cor18555_SNV_20070510.chrX_152703508 4.48e-01 2007.12.05 2007.12.05 2003.02.20 2012.11.28 137 HGSV 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 84684835 4898461 Cor19240_SNV_20070510.chrX_152703508 4.48e-01 2007.12.07 2007.12.07 2003.02.20 2012.11.28 137 HGSV 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 85734049 4898461 Cor19129_SNV_20070510.chrX_152703508 4.48e-01 2007.12.10 2007.12.10 2003.02.20 2012.11.28 137 BGI 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 105777044 4898461 BGI_rs4898461 4.48e-01 2008.09.12 2009.06.19 2003.02.20 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 161779016 4898461 ENSSNP3113957 4.48e-01 2009.09.25 2009.09.25 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 163350686 4898461 NA07022_36_chrX_152835855 4.48e-01 2009.09.29 2009.09.29 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 165815093 4898461 NA19240_36_chrX_152835855 4.48e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 GMI 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 283908245 4898461 GMI_AK_SNP_8228727 4.48e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 294528118 4898461 SNP_4034476_chrX_152835855 4.48e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153182661G>C;NG_013220.1:g.14054C>G;NM_001164741.1:c.1152+1625C>G;NM_001666.4:c.1032+1625C>G 341907769 4898461 20100804_snps_659440_chrX_153182661 4.48e-01 2011.03.25 2011.03.25 2003.02.20 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153182976G>A;NG_013220.1:g.13739C>T;NM_001164741.1:c.1152+1310C>T;NM_001666.4:c.1032+1310C>T 467026513 182151571 20101123_snps_13193743_chrX_153182976 5.42e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153183270C>T;NG_013220.1:g.13445G>A;NM_001164741.1:c.1152+1016G>A;NM_001666.4:c.1032+1016G>A 467026514 187667220 20101123_snps_13193744_chrX_153183270 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153183302T>A;NG_013220.1:g.13413A>T;NM_001164741.1:c.1152+984A>T;NM_001666.4:c.1032+984A>T 467026515 190351180 20101123_snps_13193745_chrX_153183302 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153183317T>C;NG_013220.1:g.13398A>G;NM_001164741.1:c.1152+969A>G;NM_001666.4:c.1032+969A>G 467026516 180971589 20101123_snps_13193746_chrX_153183317 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153183399A>C;NG_013220.1:g.13316T>G;NM_001164741.1:c.1152+887T>G;NM_001666.4:c.1032+887T>G 341907770 144154343 20100804_snps_659441_chrX_153183399 1.45e-02 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153183723T>C;NG_013220.1:g.12992A>G;NM_001164741.1:c.1152+563A>G;NM_001666.4:c.1032+563A>G 467026517 185000522 20101123_snps_13193747_chrX_153183723 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153183951C>T;NG_013220.1:g.12764G>A;NM_001164741.1:c.1152+335G>A;NM_001666.4:c.1032+335G>A 467026518 190186104 20101123_snps_13193748_chrX_153183951 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153184037A>G;NG_013220.1:g.12678T>C;NM_001164741.1:c.1152+249T>C;NM_001666.4:c.1032+249T>C 341907771 148678818 20100804_snps_659442_chrX_153184037 1.02e-02 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153184050T>C;NG_013220.1:g.12665A>G;NM_001164741.1:c.1152+236A>G;NM_001666.4:c.1032+236A>G 341907772 143885656 20100804_snps_659443_chrX_153184050 1.21e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 SI_EXO 393 NC_000023.10:g.153184202G>A;NG_013220.1:g.12513C>T;NM_001164741.1:c.1152+84C>T;NM_001666.4:c.1032+84C>T 61706375 41301329 NT_025965.13_536165 8.44e-03 2006.07.11 2006.08.17 2006.10.18 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184202G>A;NG_013220.1:g.12513C>T;NM_001164741.1:c.1152+84C>T;NM_001666.4:c.1032+84C>T 341907773 41301329 20100804_snps_659444_chrX_153184202 8.44e-03 2011.03.25 2011.03.25 2006.10.18 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184283C>T;NG_013220.1:g.12432G>A;NM_001164741.1:c.1152+3G>A;NM_001666.4:c.1032+3G>A 467026519 182410663 20101123_snps_13193749_chrX_153184283 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CLINSEQ_SNP 393 NC_000023.10:g.153184318G>A;NG_013220.1:g.12397C>T;NM_001164741.1:c.1120C>T;NM_001666.4:c.1000C>T;NP_001158213.1:p.Arg374Cys;NP_001657.3:p.Arg334Cys 491955388 201244043 SNV-chrX-152837512 2012.03.07 2012.03.13 2012.05.04 2012.05.04 137 CLINSEQ_SNP 393 NC_000023.10:g.153184337G>A;NG_013220.1:g.12378C>T;NM_001164741.1:c.1101C>T;NM_001666.4:c.981C>T;NP_001158213.1:p.Thr367=;NP_001657.3:p.Thr327= 491955389 202218244 SNV-chrX-152837531 2012.03.07 2012.03.13 2012.05.04 2012.05.04 137 NHLBI-ESP 393 NC_000023.10:g.153184377G>C;NG_013220.1:g.12338C>G;NM_001164741.1:c.1061C>G;NM_001666.4:c.941C>G;NP_001158213.1:p.Pro354Arg;NP_001657.3:p.Pro314Arg 342561925 140619653 ESP2500-chrX-153184377 6.03e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184377G>C;NG_013220.1:g.12338C>G;NM_001164741.1:c.1061C>G;NM_001666.4:c.941C>G;NP_001158213.1:p.Pro354Arg;NP_001657.3:p.Pro314Arg 489234754 140619653 20110521_exome_290574_chrX_153184377 6.03e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153184386G>A;NG_013220.1:g.12329C>T;NM_001164741.1:c.1052C>T;NM_001666.4:c.932C>T;NP_001158213.1:p.Ala351Val;NP_001657.3:p.Ala311Val 342561926 145727816 ESP2500-chrX-153184386 6.03e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184386G>A;NG_013220.1:g.12329C>T;NM_001164741.1:c.1052C>T;NM_001666.4:c.932C>T;NP_001158213.1:p.Ala351Val;NP_001657.3:p.Ala311Val 489234756 145727816 20110521_exome_290575_chrX_153184386 6.03e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153184386G>A;NG_013220.1:g.12329C>T;NM_001164741.1:c.1052C>T;NM_001666.4:c.932C>T;NP_001158213.1:p.Ala351Val;NP_001657.3:p.Ala311Val 491580707 145727816 nonsyn_296933_chr_X_153184386 6.03e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153184386G>A;NG_013220.1:g.12329C>T;NM_001164741.1:c.1052C>T;NM_001666.4:c.932C>T;NP_001158213.1:p.Ala351Val;NP_001657.3:p.Ala311Val 491955390 145727816 SNV-chrX-152837580 6.03e-04 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184388C>T;NG_013220.1:g.12327G>A;NM_001164741.1:c.1050G>A;NM_001666.4:c.930G>A;NP_001158213.1:p.Glu350=;NP_001657.3:p.Glu310= 489234758 200605524 20110521_exome_290576_chrX_153184388 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153184423C>T;NG_013220.1:g.12292G>A;NM_001164741.1:c.1015G>A;NM_001666.4:c.895G>A;NP_001158213.1:p.Val339Met;NP_001657.3:p.Val299Met 342561927 148107975 ESP2500-chrX-153184423 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153184432C>T;NG_013220.1:g.12283G>A;NM_001164741.1:c.1006G>A;NM_001666.4:c.886G>A;NP_001158213.1:p.Ala336Thr;NP_001657.3:p.Ala296Thr 342561928 141972379 ESP2500-chrX-153184432 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153184440C>T;NG_013220.1:g.12275G>A;NM_001164741.1:c.998G>A;NM_001666.4:c.878G>A;NP_001158213.1:p.Arg333His;NP_001657.3:p.Arg293His 342561929 150665377 ESP2500-chrX-153184440 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153184451G>A;NG_013220.1:g.12264C>T;NM_001164741.1:c.987C>T;NM_001666.4:c.867C>T;NP_001158213.1:p.Ala329=;NP_001657.3:p.Ala289= 342561930 138950601 ESP2500-chrX-153184451 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 SI_EXO 393 NC_000023.10:g.153184497G>C;NG_013220.1:g.12218C>G;NM_001164741.1:c.941C>G;NM_001666.4:c.821C>G;NP_001158213.1:p.Thr314Arg;NP_001657.3:p.Thr274Arg 61715903 41311386 NT_025965.13_536460 2006.07.11 2006.08.17 2006.10.18 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153184497G>C;NG_013220.1:g.12218C>G;NM_001164741.1:c.941C>G;NM_001666.4:c.821C>G;NP_001158213.1:p.Thr314Arg;NP_001657.3:p.Thr274Arg 160662308 41311386 HumanOmni1-Quad_v1-0_B_rs41311386-128_T_R_1562472239 2009.08.06 2009.10.04 2006.10.18 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153184497G>C;NG_013220.1:g.12218C>G;NM_001164741.1:c.941C>G;NM_001666.4:c.821C>G;NP_001158213.1:p.Thr314Arg;NP_001657.3:p.Thr274Arg 481863819 41311386 HumanOmni1-Quad_v1-0_C_rs41311386-131_T_R_1863349762 2012.02.01 2012.02.01 2006.10.18 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184510G>A;NG_013220.1:g.12205C>T;NM_001164741.1:c.931-3C>T;NM_001666.4:c.811-3C>T 489234760 202193005 20110521_exome_290577_chrX_153184510 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153184510G>A;NG_013220.1:g.12205C>T;NM_001164741.1:c.931-3C>T;NM_001666.4:c.811-3C>T 491955391 202193005 SNV-chrX-152837704 0 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184515G>A;NG_013220.1:g.12200C>T;NM_001164741.1:c.931-8C>T;NM_001666.4:c.811-8C>T 489234762 201489388 20110521_exome_290578_chrX_153184515 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153184565C>T;NG_013220.1:g.12150G>A;NM_001164741.1:c.930+44G>A;NM_001666.4:c.810+44G>A 491955392 201867688 SNV-chrX-152837759 2012.03.07 2012.03.13 2012.05.04 2012.05.04 137 ENSEMBL 393 NC_000023.10:g.153184771G>A;NG_013220.1:g.11944C>T;NM_001164741.1:c.802-34C>T;NM_001666.4:c.682-34C>T 143730934 74328477 ENSSNP4271912 2.41e-03 2009.06.06 2009.10.19 2009.12.01 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184771G>A;NG_013220.1:g.11944C>T;NM_001164741.1:c.802-34C>T;NM_001666.4:c.682-34C>T 467026520 74328477 20101123_snps_13193750_chrX_153184771 2.41e-03 2011.07.20 2011.07.20 2009.12.01 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184771G>A;NG_013220.1:g.11944C>T;NM_001164741.1:c.802-34C>T;NM_001666.4:c.682-34C>T 491205779 74328477 20110521_exome_713577_chrX_153184771 2.41e-03 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153184771G>A;NG_013220.1:g.11944C>T;NM_001164741.1:c.802-34C>T;NM_001666.4:c.682-34C>T 491955393 74328477 SNV-chrX-152837965 2.41e-03 2012.03.07 2012.03.13 2009.12.01 2012.11.28 137 GMI 393 NC_000023.10:g.153184816G>A;NG_013220.1:g.11899C>T;NM_001164741.1:c.802-79C>T;NM_001666.4:c.682-79C>T 283908246 140855390 GMI_AK_SNP_8228728 7.05e-02 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153184816G>A;NG_013220.1:g.11899C>T;NM_001164741.1:c.802-79C>T;NM_001666.4:c.682-79C>T 341907774 140855390 20100804_snps_659445_chrX_153184816 7.05e-02 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153184816G>A;NG_013220.1:g.11899C>T;NM_001164741.1:c.802-79C>T;NM_001666.4:c.682-79C>T 482876286 140855390 HumanOmni2.5-4v1_D_kgp22824856-0_T_F_1860400851 7.05e-02 2012.02.02 2012.02.02 2011.05.09 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153184816G>A;NG_013220.1:g.11899C>T;NM_001164741.1:c.802-79C>T;NM_001666.4:c.682-79C>T 484350440 140855390 HumanOmni2.5-4v1_B_SNP23-152838010-0_T_F_1649589013 7.05e-02 2012.02.03 2012.02.03 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153185244_153185245insAA;NG_013220.1:g.11470_11471insTT;NM_001164741.1:c.682-105_682-104insTT;NM_001666.4:c.682-508_682-507insTT 500142553 199880943 20110316_indels_chrX_153185244_153185245 3.10e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 BGI 393 NC_000023.10:g.153185245T>A;NG_013220.1:g.11470A>T;NM_001164741.1:c.682-105A>T;NM_001666.4:c.682-508A>T 105777045 72616464 BGI_YHSNP0394708 3.36e-01 2008.09.12 2009.06.19 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153185245T>A;NG_013220.1:g.11470A>T;NM_001164741.1:c.682-105A>T;NM_001666.4:c.682-508A>T 163350692 72616464 NA07022_36_chrX_152838439 3.36e-01 2009.09.29 2009.09.29 2009.02.14 2012.11.28 137 GMI 393 NC_000023.10:g.153185245T>A;NG_013220.1:g.11470A>T;NM_001164741.1:c.682-105A>T;NM_001666.4:c.682-508A>T 283908247 72616464 GMI_AK_SNP_8228729 3.36e-01 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153185245T>A;NG_013220.1:g.11470A>T;NM_001164741.1:c.682-105A>T;NM_001666.4:c.682-508A>T 467026521 72616464 20101123_snps_13193751_chrX_153185245 3.36e-01 2011.07.20 2011.07.20 2009.02.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153185250_153185251insTA;NG_013220.1:g.11464_11465insTA;NM_001164741.1:c.682-111_682-110insTA;NM_001666.4:c.682-514_682-513insTA 500142557 200940749 20110316_indels_chrX_153185250_153185251 2.41e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HGSV 393 NC_000023.10:g.153185252T>A;NG_013220.1:g.11463A>T;NM_001164741.1:c.682-112A>T;NM_001666.4:c.682-515A>T 78637966 56069539 Cor18507_SNV_20070510.chrX_152706099 1.27e-02 2007.10.20 2007.10.20 2007.12.07 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153185252T>A;NG_013220.1:g.11463A>T;NM_001164741.1:c.682-112A>T;NM_001666.4:c.682-515A>T 467026522 56069539 20101123_snps_13193752_chrX_153185252 1.27e-02 2011.07.20 2011.07.20 2007.12.07 2012.11.28 137 GMI 393 NC_000023.10:g.153185258_153185259insT;NG_013220.1:g.11456_11457insA;NM_001164741.1:c.682-119_682-118insA;NM_001666.4:c.682-522_682-521insA 478865216 200702381 GMI_AK_INDEL_1168059 2011.12.31 2011.12.31 2012.05.04 2012.05.04 137 1000GENOMES 393 NC_000023.10:g.153185401C>T;NG_013220.1:g.11314G>A;NM_001164741.1:c.682-261G>A;NM_001666.4:c.682-664G>A 467026523 189210246 20101123_snps_13193753_chrX_153185401 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 393 NC_000023.10:g.153185402G>A;NG_013220.1:g.11313C>T;NM_001164741.1:c.682-262C>T;NM_001666.4:c.682-665C>T 8229312 5945374 NT_025965.9_524681 1.45e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153185402G>A;NG_013220.1:g.11313C>T;NM_001164741.1:c.682-262C>T;NM_001666.4:c.682-665C>T 341907775 5945374 20100804_snps_659446_chrX_153185402 1.45e-01 2011.03.25 2011.03.25 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153185646C>T;NG_013220.1:g.11069G>A;NM_001164741.1:c.681+434G>A;NM_001666.4:c.681+434G>A 467026524 192465583 20101123_snps_13193754_chrX_153185646 4.82e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153185797delC;NG_013220.1:g.10918delG;NM_001164741.1:c.681+283delG;NM_001666.4:c.681+283delG 500142561 202214991 20110316_indels_chrX_153185796_153185796 6.63e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153185957A>C;NG_013220.1:g.10758T>G;NM_001164741.1:c.681+123T>G;NM_001666.4:c.681+123T>G 467026525 182390127 20101123_snps_13193755_chrX_153185957 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 393 NC_000023.10:g.153186088C>T;NG_013220.1:g.10627G>A;NM_001164741.1:c.673G>A;NM_001666.4:c.673G>A;NP_001158213.1:p.Val225Met;NP_001657.3:p.Val225Met 342561931 143269887 ESP2500-chrX-153186088 0 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186088C>T;NG_013220.1:g.10627G>A;NM_001164741.1:c.673G>A;NM_001666.4:c.673G>A;NP_001158213.1:p.Val225Met;NP_001657.3:p.Val225Met 489234764 143269887 20110521_exome_290579_chrX_153186088 0 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153186088C>T;NG_013220.1:g.10627G>A;NM_001164741.1:c.673G>A;NM_001666.4:c.673G>A;NP_001158213.1:p.Val225Met;NP_001657.3:p.Val225Met 491580708 143269887 nonsyn_296934_chr_X_153186088 0 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153186148C>T;NG_013220.1:g.10567G>A;NM_001164741.1:c.613G>A;NM_001666.4:c.613G>A;NP_001158213.1:p.Ala205Thr;NP_001657.3:p.Ala205Thr 342561932 147143769 ESP2500-chrX-153186148 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153186149G>A;NG_013220.1:g.10566C>T;NM_001164741.1:c.612C>T;NM_001666.4:c.612C>T;NP_001158213.1:p.Thr204=;NP_001657.3:p.Thr204= 342561933 140330535 ESP2500-chrX-153186149 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153186212G>A;NG_013220.1:g.10503C>T;NM_001164741.1:c.549C>T;NM_001666.4:c.549C>T;NP_001158213.1:p.Ala183=;NP_001657.3:p.Ala183= 342561934 144176249 ESP2500-chrX-153186212 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 393 NC_000023.10:g.153186218G>A;NG_013220.1:g.10497C>T;NM_001164741.1:c.543C>T;NM_001666.4:c.543C>T;NP_001158213.1:p.Ala181=;NP_001657.3:p.Ala181= 342561935 147390175 ESP2500-chrX-153186218 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 EXOME_CHIP 393 NC_000023.10:g.153186225A>G;NG_013220.1:g.10490T>C;NM_001164741.1:c.536T>C;NM_001666.4:c.536T>C;NP_001158213.1:p.Val179Ala;NP_001657.3:p.Val179Ala 491580709 199498356 nonsyn_296935_chr_X_153186225 2012.03.06 2012.03.06 2012.05.04 2012.05.04 137 BUSHMAN 393 NC_000023.10:g.153186235T>C;NG_013220.1:g.10480A>G;NM_001164741.1:c.526A>G;NM_001666.4:c.526A>G;NP_001158213.1:p.Met176Val;NP_001657.3:p.Met176Val 204403560 112573601 BUSHMAN-chrX-152839428 2010.03.10 2010.03.10 2010.07.04 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153186248G>A;NG_013220.1:g.10467C>T;NM_001164741.1:c.513C>T;NM_001666.4:c.513C>T;NP_001158213.1:p.Tyr171=;NP_001657.3:p.Tyr171= 489234766 199544052 20110521_exome_290580_chrX_153186248 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186304C>T;NG_013220.1:g.10411G>A;NM_001164741.1:c.499-42G>A;NM_001666.4:c.499-42G>A 467026526 186665697 20101123_snps_13193756_chrX_153186304 0 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186304C>T;NG_013220.1:g.10411G>A;NM_001164741.1:c.499-42G>A;NM_001666.4:c.499-42G>A 491205780 186665697 20110521_exome_713578_chrX_153186304 0 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 GMI 393 NC_000023.10:g.153186411_153186412insG;NG_013220.1:g.10303_10304insC;NM_001164741.1:c.498+138_498+139insC;NM_001666.4:c.498+138_498+139insC 155885003 77239136 GMI_INDEL-170008 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 BL 393 NC_000023.10:g.153186411_153186412insG;NG_013220.1:g.10303_10304insC;NM_001164741.1:c.498+138_498+139insC;NM_001666.4:c.498+138_498+139insC 256216807 77239136 SNP6549_X_152839606 2010.08.20 2010.08.20 2009.12.01 2012.11.28 137 GMI 393 NC_000023.10:g.153186411_153186412insG;NG_013220.1:g.10303_10304insC;NM_001164741.1:c.498+138_498+139insC;NM_001666.4:c.498+138_498+139insC 478865217 77239136 GMI_AK_INDEL_1168060 2011.12.31 2011.12.31 2009.12.01 2012.11.28 137 ABI 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 43643145 34153599 hCV34424838 2005.07.18 2005.07.18 2006.03.13 2012.11.28 137 HGSV 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 81517324 34153599 Cor18555_DIV_20070510.chrX_152707261-152707262_1 2007.11.30 2007.11.30 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 100110821 34153599 INDEL_GP36_2008a_1336232_0 2008.05.16 2008.05.16 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 100110825 34153599 INDEL_GP36_2008a_1336232_1 2008.05.16 2008.05.16 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 100734121 34153599 INDEL_GP36_2008a_971138_0 2008.05.17 2008.05.17 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 100734122 34153599 INDEL_GP36_2008a_971138_1 2008.05.17 2008.05.17 2006.03.13 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 100734124 34153599 INDEL_GP36_2008a_971138_2 2008.05.17 2008.05.17 2006.03.13 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 194072744 34153599 BUSHMAN-chrX-152839608-152839608 2010.02.17 2010.02.17 2006.03.13 2012.11.28 137 GMI 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 288570813 34153599 GMI_NA10851_INDEL_319136 2010.12.22 2010.12.22 2006.03.13 2012.11.28 137 PJP 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 295468192 34153599 DIP_905896_chrX_152839607 2011.01.24 2011.01.24 2006.03.13 2012.11.28 137 PJP 393 NC_000023.10:g.153186413_153186414insG;NG_013220.1:g.10301_10302insC;NM_001164741.1:c.498+136_498+137insC;NM_001666.4:c.498+136_498+137insC 295468193 34153599 DIP_905897_chrX_152839608 2011.01.24 2011.01.24 2006.03.13 2012.11.28 137 GMI 393 NC_000023.10:g.153186415C>G;NG_013220.1:g.10300G>C;NM_001164741.1:c.498+135G>C;NM_001666.4:c.498+135G>C 283908248 199968461 GMI_AK_SNP_8228730 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BL 393 NC_000023.10:g.153186482_153186483insC;NG_013220.1:g.10232_10233insG;NM_001164741.1:c.498+67_498+68insG;NM_001666.4:c.498+67_498+68insG 256216808 149346128 SNP6550_X_152839678 2010.08.20 2010.08.20 2011.05.09 2012.11.28 137 GMI 393 NC_000023.10:g.153186482_153186483insC;NG_013220.1:g.10232_10233insG;NM_001164741.1:c.498+67_498+68insG;NM_001666.4:c.498+67_498+68insG 478865218 149346128 GMI_AK_INDEL_1168061 2011.12.31 2011.12.31 2011.05.09 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153186484T>C;NG_013220.1:g.10231A>G;NM_001164741.1:c.498+66A>G;NM_001666.4:c.498+66A>G 482647873 201383019 HumanOmni2.5-4v1_D_kgp22748431-0_B_F_1860469696 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153186484T>C;NG_013220.1:g.10231A>G;NM_001164741.1:c.498+66A>G;NM_001666.4:c.498+66A>G 484350442 201383019 HumanOmni2.5-4v1_B_SNP23-152839678-0_B_F_1649747787 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186482_153186483insC;NG_013220.1:g.10232_10233insG;NM_001164741.1:c.498+67_498+68insG;NM_001666.4:c.498+67_498+68insG 500142565 149346128 20110316_indels_chrX_153186484_153186485 2012.03.20 2012.03.20 2011.05.09 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 15315398 11428457 INDEL_GP34_WGS_459930 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 43706002 11428457 hCV34424837 2005.07.18 2005.07.18 2004.02.28 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 50228967 11428457 INDEL_GP35_WGS_470175 2006.01.24 2006.01.24 2004.02.28 2012.11.28 137 HGSV 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 81517318 11428457 Cor18555_DIV_20070510.chrX_152707335-152707336_1 2007.11.30 2007.11.30 2004.02.28 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 99660188 11428457 INDEL_GP36_2007a_272247_0 2008.05.05 2008.05.05 2004.02.28 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 101221157 11428457 INDEL_GP36_2008a_272247_1 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 101221160 11428457 INDEL_GP36_2008a_272247_2 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 101221163 11428457 INDEL_GP36_2008a_272247_3 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 101807475 11428457 INDEL_GP36_2008a_1336233_0 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 BGI 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 104796126 11428457 BGI_rs35036289 2008.06.09 2008.06.09 2004.02.28 2012.11.28 137 BGI 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 105551128 11428457 BGI_YHIndelrs35036289 2008.09.10 2009.06.16 2004.02.28 2012.11.28 137 GMI 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 155885009 11428457 GMI_INDEL-170009 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 GMI 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 288570815 11428457 GMI_NA10851_INDEL_319137 2010.12.22 2010.12.22 2004.02.28 2012.11.28 137 PJP 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 295468194 11428457 DIP_905898_chrX_152839679 2011.01.24 2011.01.24 2004.02.28 2012.11.28 137 PJP 393 NC_000023.10:g.153186485_153186486insC;NG_013220.1:g.10229_10230insG;NM_001164741.1:c.498+64_498+65insG;NM_001666.4:c.498+64_498+65insG 295468195 11428457 DIP_905899_chrX_152839682 2011.01.24 2011.01.24 2004.02.28 2012.11.28 137 GMI 393 NC_000023.10:g.153186491T>A;NG_013220.1:g.10224A>T;NM_001164741.1:c.498+59A>T;NM_001666.4:c.498+59A>T 283908249 201067385 GMI_AK_SNP_8228731 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 393 NC_000023.10:g.153186517T>C;NG_013220.1:g.10198A>G;NM_001164741.1:c.498+33A>G;NM_001666.4:c.498+33A>G 467026527 191822449 20101123_snps_13193757_chrX_153186517 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186517T>C;NG_013220.1:g.10198A>G;NM_001164741.1:c.498+33A>G;NM_001666.4:c.498+33A>G 491205781 191822449 20110521_exome_713579_chrX_153186517 6.03e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 393 NC_000023.10:g.153186552T>C;NG_013220.1:g.10163A>G;NM_001164741.1:c.496A>G;NM_001666.4:c.496A>G;NP_001158213.1:p.Thr166Ala;NP_001657.3:p.Thr166Ala 342561936 148426643 ESP2500-chrX-153186552 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153186628A>G;NG_013220.1:g.10087T>C;NM_001164741.1:c.436-16T>C;NM_001666.4:c.436-16T>C 467026528 183992295 20101123_snps_13193758_chrX_153186628 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186628A>G;NG_013220.1:g.10087T>C;NM_001164741.1:c.436-16T>C;NM_001666.4:c.436-16T>C 491205782 183992295 20110521_exome_713580_chrX_153186628 2.41e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186703G>T;NG_013220.1:g.10012C>A;NM_001164741.1:c.436-91C>A;NM_001666.4:c.436-91C>A 467026529 189558725 20101123_snps_13193759_chrX_153186703 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153186787C>T;NG_013220.1:g.9928G>A;NM_001164741.1:c.435+31G>A;NM_001666.4:c.435+31G>A 489234768 201478264 20110521_exome_290581_chrX_153186787 1.21e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153186831C>T;NG_013220.1:g.9884G>A;NM_001164741.1:c.422G>A;NM_001666.4:c.422G>A;NP_001158213.1:p.Arg141His;NP_001657.3:p.Arg141His 491955394 200952700 SNV-chrX-152840025 2012.03.07 2012.03.13 2012.05.04 2012.05.04 137 NHLBI-ESP 393 NC_000023.10:g.153186900G>T;NG_013220.1:g.9815C>A;NM_001164741.1:c.353C>A;NM_001666.4:c.353C>A;NP_001158213.1:p.Ala118Glu;NP_001657.3:p.Ala118Glu 342561937 142621606 ESP2500-chrX-153186900 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153186911G>A;NG_013220.1:g.9804C>T;NM_001164741.1:c.342C>T;NM_001666.4:c.342C>T;NP_001158213.1:p.Ser114=;NP_001657.3:p.Ser114= 489234770 200450466 20110521_exome_290582_chrX_153186911 3.01e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186922G>A;NG_013220.1:g.9793C>T;NM_001164741.1:c.331C>T;NM_001666.4:c.331C>T;NP_001158213.1:p.Arg111Trp;NP_001657.3:p.Arg111Trp 489234772 200174362 20110521_exome_290583_chrX_153186922 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 8279545 5987182 NT_025965.9_526221 2.89e-02 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 APPLERA_GI 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 48405130 5987182 hCV25923089 2.89e-02 2005.11.30 2006.11.03 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 115335830 5987182 NA19240_2008_12_16_3585615_chrX_152840136 2.89e-02 2008.12.19 2008.12.19 2003.04.21 2012.11.28 137 SEATTLESEQ 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 159745987 5987182 ARHGAP4-152840136 2.89e-02 2009.07.10 2009.07.10 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 341907776 5987182 20100804_snps_659447_chrX_153186942 2.89e-02 2011.03.25 2011.03.25 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 491205783 5987182 20110521_exome_713581_chrX_153186942 2.89e-02 2012.02.22 2012.02.22 2003.04.21 2012.11.28 137 EXOME_CHIP 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 491580710 5987182 nonsyn_296936_chr_X_153186942 2.89e-02 2012.03.06 2012.03.06 2003.04.21 2012.11.28 137 CLINSEQ_SNP 393 NC_000023.10:g.153186942G>A;NG_013220.1:g.9773C>T;NM_001164741.1:c.311C>T;NM_001666.4:c.311C>T;NP_001158213.1:p.Ala104Val;NP_001657.3:p.Ala104Val 491955395 5987182 SNV-chrX-152840136 2.89e-02 2012.03.07 2012.03.13 2003.04.21 2012.11.28 137 SC_JCM 393 NC_000023.10:g.153187011G>A;NG_013220.1:g.9704C>T;NM_001164741.1:c.273-31C>T;NM_001666.4:c.273-31C>T 4045831 2857837 Z68128.1_8076 2001.09.26 2003.10.10 2001.09.28 2011.09.09 137 ILLUMINA 393 NC_000023.10:g.153187011G>A;NG_013220.1:g.9704C>T;NM_001164741.1:c.273-31C>T;NM_001666.4:c.273-31C>T 74968377 2857837 ILMN_Human_1M_rs2857837 2007.08.29 2007.08.29 2001.09.28 2011.09.09 137 KRIBB_YJKIM 393 NC_000023.10:g.153187011G>A;NG_013220.1:g.9704C>T;NM_001164741.1:c.273-31C>T;NM_001666.4:c.273-31C>T 119448428 2857837 KHS1610675 2009.02.04 2009.02.04 2001.09.28 2011.09.09 137 ILLUMINA 393 NC_000023.10:g.153187011G>A;NG_013220.1:g.9704C>T;NM_001164741.1:c.273-31C>T;NM_001666.4:c.273-31C>T 173506611 2857837 Human1M-Duov3_B_rs2857837-128_T_R_1513935806 2009.10.03 2009.10.03 2001.09.28 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153187185G>A;NG_013220.1:g.9530C>T;NM_001164741.1:c.145C>T;NM_001666.4:c.145C>T;NP_001158213.1:p.Leu49=;NP_001657.3:p.Leu49= 489234774 201933843 20110521_exome_290584_chrX_153187185 1.21e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SC_JCM 393 NC_000023.10:g.153187200C>T;NG_013220.1:g.9515G>A;NM_001164741.1:c.130G>A;NM_001666.4:c.130G>A;NP_001158213.1:p.Glu44Lys;NP_001657.3:p.Glu44Lys 4042746 2855586 U52112.1_74683 2001.09.26 2003.10.10 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153187200C>T;NG_013220.1:g.9515G>A;NM_001164741.1:c.130G>A;NM_001666.4:c.130G>A;NP_001158213.1:p.Glu44Lys;NP_001657.3:p.Glu44Lys 74964746 2855586 ILMN_Human_1M_rs2855586 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 KRIBB_YJKIM 393 NC_000023.10:g.153187200C>T;NG_013220.1:g.9515G>A;NM_001164741.1:c.130G>A;NM_001666.4:c.130G>A;NP_001158213.1:p.Glu44Lys;NP_001657.3:p.Glu44Lys 119448321 2855586 KHS1610568 2009.02.04 2009.02.04 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153187200C>T;NG_013220.1:g.9515G>A;NM_001164741.1:c.130G>A;NM_001666.4:c.130G>A;NP_001158213.1:p.Glu44Lys;NP_001657.3:p.Glu44Lys 173505031 2855586 Human1M-Duov3_B_rs2855586-128_B_F_1513935759 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153187267G>A;NG_013220.1:g.9448C>T;NM_001164741.1:c.68-5C>T;NM_001666.4:c.68-5C>T 489234776 201310068 20110521_exome_290585_chrX_153187267 2.41e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 TSC-CSHL 393 NC_000023.10:g.153187671G>A;NG_013220.1:g.9044C>T;NM_001164741.1:c.68-409C>T;NM_001666.4:c.68-409C>T 1351578 916176 TSC0201048 2000.09.06 2003.10.10 2000.10.05 2011.07.08 137 SC_JCM 393 NC_000023.10:g.153187671G>A;NG_013220.1:g.9044C>T;NM_001164741.1:c.68-409C>T;NM_001666.4:c.68-409C>T 4045830 916176 Z68128.1_7421 2001.09.26 2003.10.10 2000.10.05 2011.07.08 137 WI_SSAHASNP 393 NC_000023.10:g.153187698C>T;NG_013220.1:g.9017G>A;NM_001164741.1:c.68-436G>A;NM_001666.4:c.68-436G>A 12027872 7877284 chrX.NT_025965.11_526977 2.53e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153187698C>T;NG_013220.1:g.9017G>A;NM_001164741.1:c.68-436G>A;NM_001666.4:c.68-436G>A 341907777 7877284 20100804_snps_659448_chrX_153187698 2.53e-02 2011.03.25 2011.03.25 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153187802C>G;NG_013220.1:g.8913G>C;NM_001164741.1:c.68-540G>C;NM_001666.4:c.68-540G>C 341907778 150024860 20100804_snps_659449_chrX_153187802 1.27e-02 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153188205T>C;NG_013220.1:g.8510A>G;NM_001164741.1:c.68-943A>G;NM_001666.4:c.68-943A>G 467026530 193195419 20101123_snps_13193760_chrX_153188205 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153188215C>G;NG_013220.1:g.8500G>C;NM_001164741.1:c.68-953G>C;NM_001666.4:c.68-953G>C 467026531 185110399 20101123_snps_13193761_chrX_153188215 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153188320G>C;NG_013220.1:g.8395C>G;NM_001164741.1:c.68-1058C>G;NM_001666.4:c.68-1058C>G 467026532 190753270 20101123_snps_13193762_chrX_153188320 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 393 NC_000023.10:g.153188423delT;NG_013220.1:g.8292delA;NM_001164741.1:c.68-1161delA;NM_001666.4:c.68-1161delA 43687213 35441863 hCV34424835 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153188515C>T;NG_013220.1:g.8200G>A;NM_001164741.1:c.68-1253G>A;NM_001666.4:c.68-1253G>A 341907779 145408668 20100804_snps_659450_chrX_153188515 1.75e-02 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153188724C>T;NG_013220.1:g.7991G>A;NM_001164741.1:c.68-1462G>A;NM_001666.4:c.68-1462G>A 341907781 144626737 20100804_snps_659452_chrX_153188724 2.53e-02 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153188758C>T;NG_013220.1:g.7957G>A;NM_001164741.1:c.68-1496G>A;NM_001666.4:c.68-1496G>A 467026533 181787436 20101123_snps_13193763_chrX_153188758 8.44e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153188778G>A;NG_013220.1:g.7937C>T;NM_001164741.1:c.68-1516C>T;NM_001666.4:c.68-1516C>T 467026534 185135049 20101123_snps_13193764_chrX_153188778 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153188802G>A;NG_013220.1:g.7913C>T;NM_001164741.1:c.68-1540C>T;NM_001666.4:c.68-1540C>T 467026535 187985916 20101123_snps_13193765_chrX_153188802 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153189277C>G;NG_013220.1:g.7438G>C;NM_001164741.1:c.68-2015G>C;NM_001666.4:c.68-2015G>C 467026536 181211937 20101123_snps_13193766_chrX_153189277 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153189300G>A;NG_013220.1:g.7415C>T;NM_001164741.1:c.68-2038C>T;NM_001666.4:c.68-2038C>T 467026537 186737604 20101123_snps_13193767_chrX_153189300 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153189323C>T;NG_013220.1:g.7392G>A;NM_001164741.1:c.68-2061G>A;NM_001666.4:c.68-2061G>A 467026538 191132793 20101123_snps_13193768_chrX_153189323 2.53e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153189343G>A;NG_013220.1:g.7372C>T;NM_001164741.1:c.68-2081C>T;NM_001666.4:c.68-2081C>T 467026539 183799984 20101123_snps_13193769_chrX_153189343 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 393 NC_000023.10:g.153189430C>T;NG_013220.1:g.7285G>A;NM_001164741.1:c.67+2160G>A;NM_001666.4:c.67+2160G>A 283908250 202127405 GMI_AK_SNP_8228732 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BCM_SSAHASNP 393 NC_000023.10:g.153189474C>T;NG_013220.1:g.7241G>A;NM_001164741.1:c.67+2116G>A;NM_001666.4:c.67+2116G>A 10567598 7060505 chrX.NT_025965.11_528753 7.84e-03 2003.06.29 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153189474C>T;NG_013220.1:g.7241G>A;NM_001164741.1:c.67+2116G>A;NM_001666.4:c.67+2116G>A 341907782 7060505 20100804_snps_659453_chrX_153189474 7.84e-03 2011.03.25 2011.03.25 2003.07.11 2012.11.28 137 YUSUKE 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 3203424 2269368 IMS-JST023508 4.03e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 8229313 2269368 NT_025965.9_529098 4.03e-01 2003.04.17 2004.08.05 2001.09.28 2012.11.28 137 BCM_SSAHASNP 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 10575227 2269368 chrX.NT_025965.11_529098 4.03e-01 2003.06.30 2003.10.10 2001.09.28 2012.11.28 137 CSHL-HAPMAP 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 18043569 2269368 CSHL-HuCC-200402.chrX.NT_025965.12_541794 4.03e-01 2004.02.20 2004.03.04 2001.09.28 2012.11.28 137 ABI 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 43625592 2269368 hCV2611424 4.03e-01 2005.07.18 2006.11.03 2001.09.28 2012.11.28 137 PERLEGEN 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 46555946 2269368 PS04336796 4.03e-01 2005.08.01 2005.08.01 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 66580915 2269368 HumanHap300v1.1_rs2269368 4.03e-01 2006.11.09 2006.11.09 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 67239578 2269368 HumanHap550v1.1_rs2269368 4.03e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 67636152 2269368 HumanHap650Yv1.0_rs2269368 4.03e-01 2006.11.14 2006.11.14 2001.09.28 2012.11.28 137 PERLEGEN 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 69268782 2269368 PGP04336796 4.03e-01 2007.01.30 2007.08.14 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 70717916 2269368 HumanHap550v3.0__rs2269368 4.03e-01 2007.04.20 2008.03.30 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 71286071 2269368 HumanHap650Yv3.0_rs2269368 4.03e-01 2007.04.23 2007.04.23 2001.09.28 2012.11.28 137 AFFY 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 74830585 2269368 SNP_M-587241 4.03e-01 2007.08.09 2007.08.09 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 74876003 2269368 ILMN_Human_1M_rs2269368 4.03e-01 2007.08.29 2007.08.29 2001.09.28 2012.11.28 137 AFFY 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 76610736 2269368 AFFY_6_1M_SNP_A-8472094 4.03e-01 2007.08.30 2007.08.30 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 79124567 2269368 HumanHap300v2.0_rs2269368 4.03e-01 2007.11.18 2007.11.18 2001.09.28 2012.11.28 137 KRIBB_YJKIM 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 84013698 2269368 KHS601916 4.03e-01 2007.12.06 2007.12.06 2001.09.28 2012.11.28 137 HGSV 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 86020221 2269368 Cor18956_SNV_20070510.chrX_152710666 4.03e-01 2007.12.10 2007.12.10 2001.09.28 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 115668831 2269368 NA18507_000086235_NCBI36.1_chrX_152843013 4.03e-01 2009.01.15 2009.01.15 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 121973826 2269368 HumanCNV370v1_C_rs2269368 4.03e-01 2009.04.14 2009.04.14 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 153896601 2269368 Human610_Quadv1_B_rs2269368-128_T_R_1501716803 4.03e-01 2009.06.19 2009.06.20 2001.09.28 2012.11.28 137 GMI 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 157804455 2269368 GMI_SNP_102403132 4.03e-01 2009.06.25 2009.06.25 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 159374443 2269368 Human660W-Quad_v1_A_rs2269368-128_T_R_1501716803 4.03e-01 2009.07.07 2009.07.07 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 160524404 2269368 HumanOmni1-Quad_v1-0_B_rs2269368-128_T_R_1501716803 4.03e-01 2009.08.06 2009.10.02 2001.09.28 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 161779018 2269368 ENSSNP3113959 4.03e-01 2009.09.25 2010.03.07 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 163350698 2269368 NA07022_36_chrX_152843013 4.03e-01 2009.09.29 2009.09.29 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 171137871 2269368 HumanCNV370-Quadv3_C_rs2269368-128_T_R_1501716803 4.03e-01 2009.10.01 2009.10.03 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 173228380 2269368 Human1M-Duov3_B_rs2269368-128_T_R_1501716803 4.03e-01 2009.10.03 2009.10.03 2001.09.28 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 204403561 2269368 BUSHMAN-chrX-152843012 4.03e-01 2010.03.10 2010.03.10 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 244288860 2269368 CVDSNP55v1_A_rs2269368 4.03e-01 2010.06.10 2010.06.10 2001.09.28 2012.11.28 137 GMI 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 283908251 2269368 GMI_AK_SNP_8228733 4.03e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 294528119 2269368 SNP_4034477_chrX_152843013 4.03e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 341907783 2269368 20100804_snps_659454_chrX_153189819 4.03e-01 2011.03.25 2011.03.25 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 480493795 2269368 HumanOmni2.5-4v1_B_rs2269368-128_T_R_1773297128 4.03e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 480508133 2269368 HumanOmniExpress-12v1_C_rs2269368-131_T_R_1857178139 4.03e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 481311911 2269368 HumanOmni1-Quad_v1-0_C_rs2269368-131_T_R_1865418147 4.03e-01 2012.01.31 2012.01.31 2001.09.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153189819C>T;NG_013220.1:g.6896G>A;NM_001164741.1:c.67+1771G>A;NM_001666.4:c.67+1771G>A 485044407 2269368 HumanOmni2.5-4v1_D_rs2269368-131_T_R_1857178139 4.03e-01 2012.02.04 2012.02.04 2001.09.28 2012.11.28 137 ABI 393 NC_000023.10:g.153189873T>G;NG_013220.1:g.6842A>C;NM_001164741.1:c.67+1717A>C;NM_001666.4:c.67+1717A>C 43800774 35512142 hCV2611425 9.64e-03 2005.07.18 2005.07.18 2006.03.15 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153189873T>G;NG_013220.1:g.6842A>C;NM_001164741.1:c.67+1717A>C;NM_001666.4:c.67+1717A>C 161779020 35512142 ENSSNP3113960 9.64e-03 2009.09.25 2009.09.25 2006.03.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153189873T>G;NG_013220.1:g.6842A>C;NM_001164741.1:c.67+1717A>C;NM_001666.4:c.67+1717A>C 341907784 35512142 20100804_snps_659455_chrX_153189873 9.64e-03 2011.03.25 2011.03.25 2006.03.15 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153190174T>C;NG_013220.1:g.6541A>G;NM_001164741.1:c.67+1416A>G;NM_001666.4:c.67+1416A>G 467026540 186653085 20101123_snps_13193770_chrX_153190174 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153190372A>G;NG_013220.1:g.6343T>C;NM_001164741.1:c.67+1218T>C;NM_001666.4:c.67+1218T>C 467026541 191100598 20101123_snps_13193771_chrX_153190372 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 393 NC_000023.10:g.153190373delC;NG_013220.1:g.6342delG;NM_001164741.1:c.67+1217delG;NM_001666.4:c.67+1217delG 43679858 34910218 hCV1844765 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 SC_SNP 393 NC_000023.10:g.153190437G>C;NG_013220.1:g.6278C>G;NM_001164741.1:c.67+1153C>G;NM_001666.4:c.67+1153C>G 8546906 6643802 NT_025965.11_529716 2003.05.23 2003.10.10 2003.07.11 2011.07.08 137 ABI 393 NC_000023.10:g.153190474_153190475insC;NG_013220.1:g.6240_6241insG;NM_001164741.1:c.67+1115_67+1116insG;NM_001666.4:c.67+1115_67+1116insG 43606207 34483295 hCV34424834 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153190479T>C;NG_013220.1:g.6236A>G;NM_001164741.1:c.67+1111A>G;NM_001666.4:c.67+1111A>G 341907785 147997186 20100804_snps_659456_chrX_153190479 3.01e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153190515C>A;NG_013220.1:g.6200G>T;NM_001164741.1:c.67+1075G>T;NM_001666.4:c.67+1075G>T 467026542 183251224 20101123_snps_13193772_chrX_153190515 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153190552G>C;NG_013220.1:g.6163C>G;NM_001164741.1:c.67+1038C>G;NM_001666.4:c.67+1038C>G 341907786 140832332 20100804_snps_659457_chrX_153190552 6.03e-04 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153190702A>G;NG_013220.1:g.6013T>C;NM_001164741.1:c.67+888T>C;NM_001666.4:c.67+888T>C 467026543 186806141 20101123_snps_13193773_chrX_153190702 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 393 NC_000023.10:g.153190708G>T;NG_013220.1:g.6007C>A;NM_001164741.1:c.67+882C>A;NM_001666.4:c.67+882C>A 84603598 57510144 Cor19129_SNV_20070510.chrX_152711555 6.03e-04 2007.12.07 2007.12.07 2007.12.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153190708G>T;NG_013220.1:g.6007C>A;NM_001164741.1:c.67+882C>A;NM_001666.4:c.67+882C>A 341907787 57510144 20100804_snps_659458_chrX_153190708 6.03e-04 2011.03.25 2011.03.25 2007.12.14 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153190801G>C;NG_013220.1:g.5914C>G;NM_001164741.1:c.67+789C>G;NM_001666.4:c.67+789C>G 467026544 190035734 20101123_snps_13193774_chrX_153190801 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153190908G>A;NG_013220.1:g.5807C>T;NM_001164741.1:c.67+682C>T;NM_001666.4:c.67+682C>T 467026545 182546967 20101123_snps_13193775_chrX_153190908 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153190944G>A;NG_013220.1:g.5771C>T;NM_001164741.1:c.67+646C>T;NM_001666.4:c.67+646C>T 467026546 188410912 20101123_snps_13193776_chrX_153190944 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153191160G>A;NG_013220.1:g.5555C>T;NM_001164741.1:c.67+430C>T;NM_001666.4:c.67+430C>T 467026547 192643602 20101123_snps_13193777_chrX_153191160 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153191166C>G;NG_013220.1:g.5549G>C;NM_001164741.1:c.67+424G>C;NM_001666.4:c.67+424G>C 341907788 138669123 20100804_snps_659459_chrX_153191166 7.84e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 WI_SSAHASNP 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 12035800 7881265 chrX.NT_025965.11_530519 4.16e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 74976333 7881265 ILMN_Human_1M_rs7881265 4.16e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 HGSV 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 80159630 7881265 Cor18507_SNV_20070510.chrX_152712087 4.16e-02 2007.11.24 2007.11.24 2003.07.11 2012.11.28 137 ILLUMINA-UK 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 115668832 7881265 NA18507_000086236_NCBI36.1_chrX_152844434 4.16e-02 2009.01.15 2009.01.15 2003.07.11 2012.11.28 137 KRIBB_YJKIM 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 119573224 7881265 KHS1735471 4.16e-02 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 174598963 7881265 Human1M-Duov3_B_rs7881265-128_T_R_1513947955 4.16e-02 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 PJP 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 294528120 7881265 SNP_4034478_chrX_152844434 4.16e-02 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191240T>C;NG_013220.1:g.5475A>G;NM_001164741.1:c.67+350A>G;NM_001666.4:c.67+350A>G 341907789 7881265 20100804_snps_659460_chrX_153191240 4.16e-02 2011.03.25 2011.03.25 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191267G>A;NG_013220.1:g.5448C>T;NM_001164741.1:c.67+323C>T;NM_001666.4:c.67+323C>T 341907790 147253700 20100804_snps_659461_chrX_153191267 1.02e-02 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 8175279 5904377 INDEL_GP31_130231 0 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 15147043 5904377 INDEL_GP34_WGS_243619 0 2003.11.13 2003.11.22 2003.04.21 2012.11.28 137 ABI 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 43955419 5904377 hCV34424831 0 2005.07.18 2005.07.18 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 49960308 5904377 INDEL_GP35_TSC_165197 0 2006.01.23 2006.01.23 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 50069629 5904377 INDEL_GP35_WGS_264766 0 2006.01.24 2006.01.24 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 77963297 5904377 Cor12156_DIV_20070510.chrX_152712127-152712129_1 0 2007.10.16 2007.10.16 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 77969841 5904377 Cor12156_DIV_20070510.chrX_152712127-152712129_2 0 2007.10.16 2007.10.16 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 77977368 5904377 Cor12156_DIV_20070510.chrX_152712127-152712129_3 0 2007.10.16 2007.10.16 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 79746940 5904377 Cor18507_DIV_20070510.chrX_152712127-152712129_1 0 2007.11.23 2007.11.23 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 81134994 5904377 Cor18956_DIV_20070510.chrX_152712127-152712129_1 0 2007.11.28 2007.11.28 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 99805502 5904377 INDEL_GP36_2007a_2940412_0 0 2008.05.06 2008.05.06 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126976 5904377 INDEL_GP36_2008a_2940412_1 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126979 5904377 INDEL_GP36_2008a_2940412_2 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126981 5904377 INDEL_GP36_2008a_2940412_3 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126983 5904377 INDEL_GP36_2008a_2940412_4 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126987 5904377 INDEL_GP36_2008a_2940412_5 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126990 5904377 INDEL_GP36_2008a_2940412_6 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126993 5904377 INDEL_GP36_2008a_2940412_7 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126995 5904377 INDEL_GP36_2008a_2940412_8 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126997 5904377 INDEL_GP36_2008a_2940412_9 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100126999 5904377 INDEL_GP36_2008a_2940412_10 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 100127002 5904377 INDEL_GP36_2008a_2940412_11 0 2008.05.16 2008.05.16 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 102081041 5904377 INDEL_GP36_2008a_1106747_0 0 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 102081042 5904377 INDEL_GP36_2008a_1106747_1 0 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 102081045 5904377 INDEL_GP36_2008a_1106747_2 0 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 102081048 5904377 INDEL_GP36_2008a_1106747_3 0 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 102081051 5904377 INDEL_GP36_2008a_1106747_4 0 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 BGI 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 104796127 5904377 BGI_YHIndel79670 0 2008.06.09 2009.06.16 2003.04.21 2012.11.28 137 GMI 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 155885016 5904377 GMI_INDEL-170010 0 2009.06.24 2009.06.24 2003.04.21 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 194072746 5904377 BUSHMAN-chrX-152844472-152844473 0 2010.02.17 2010.02.17 2003.04.21 2012.11.28 137 BUSHMAN 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 194072748 5904377 BUSHMAN-chrX-152844474-152844475 0 2010.02.17 2010.02.17 2003.04.21 2012.11.28 137 BL 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 256216809 5904377 SNP6551_X_152844472 0 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 288570817 5904377 GMI_NA10851_INDEL_319138 0 2010.12.22 2010.12.22 2003.04.21 2012.11.28 137 PJP 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 295468196 5904377 DIP_905900_chrX_152844473 0 2011.01.24 2011.01.24 2003.04.21 2012.11.28 137 PJP 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 295468197 5904377 DIP_905901_chrX_152844475 0 2011.01.24 2011.01.24 2003.04.21 2012.11.28 137 GMI 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 478865219 5904377 GMI_AK_INDEL_1168062 0 2011.12.31 2011.12.31 2003.04.21 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191279G>T;NG_013220.1:g.5436C>A;NM_001164741.1:c.67+311C>A;NM_001666.4:c.67+311C>A 482679468 200859325 HumanOmni2.5-4v1_D_kgp22758958-0_B_F_1860490750 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191279G>T;NG_013220.1:g.5436C>A;NM_001164741.1:c.67+311C>A;NM_001666.4:c.67+311C>A 484350446 200859325 HumanOmni2.5-4v1_B_SNP23-152844473-0_B_F_1649641429 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191279delG;NG_013220.1:g.5436delC;NM_001164741.1:c.67+311delC;NM_001666.4:c.67+311delC 500142569 5904377 20110316_indels_chrX_153191278_153191278 0 2012.03.20 2012.03.20 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191293C>T;NG_013220.1:g.5422G>A;NM_001164741.1:c.67+297G>A;NM_001666.4:c.67+297G>A 341907791 139061875 20100804_snps_659462_chrX_153191293 9.04e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153191347G>A;NG_013220.1:g.5368C>T;NM_001164741.1:c.67+243C>T;NM_001666.4:c.67+243C>T 467026548 185378274 20101123_snps_13193778_chrX_153191347 4.82e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153191352A>G;NG_013220.1:g.5363T>C;NM_001164741.1:c.67+238T>C;NM_001666.4:c.67+238T>C 467026549 188231415 20101123_snps_13193779_chrX_153191352 4.82e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 17294204 11797283 CSHL-HuAA-200402.chrX.NT_025965.12_543382 2004.02.18 2004.03.04 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 74968559 11797283 ILMN_Human_1M_rs11797283 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 119714849 11797283 KHS1818649 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 160005324 11797283 HumanOmni1-Quad_v1-0_B_rs11797283-128_B_F_1513922150 2009.08.05 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 171586134 11797283 Human1M-Duov3_B_rs11797283-128_B_F_1513922150 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 479598111 11797283 HumanOmni2.5-4v1_B_rs11797283-128_B_F_1513922150 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 479602857 11797283 HumanOmniExpress-12v1_C_rs11797283-131_B_F_1857332555 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 480087079 11797283 HumanOmni1-Quad_v1-0_C_rs11797283-131_B_F_1857332555 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 393 NC_000023.10:g.153191407G>T;NG_013220.1:g.5308C>A;NM_001164741.1:c.67+183C>A;NM_001666.4:c.67+183C>A 484597778 11797283 HumanOmni2.5-4v1_D_rs11797283-131_B_F_1857332555 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191573G>A;NG_013220.1:g.5142C>T;NM_001164741.1:c.67+17C>T;NM_001666.4:c.67+17C>T 341907792 142965158 20100804_snps_659463_chrX_153191573 1.45e-02 2011.03.25 2011.03.25 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191573G>A;NG_013220.1:g.5142C>T;NM_001164741.1:c.67+17C>T;NM_001666.4:c.67+17C>T 491205784 142965158 20110521_exome_713582_chrX_153191573 1.45e-02 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191580G>A;NG_013220.1:g.5135C>T;NM_001164741.1:c.67+10C>T;NM_001666.4:c.67+10C>T 489234778 200072248 20110521_exome_290586_chrX_153191580 1.81e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191583C>T;NG_013220.1:g.5132G>A;NM_001164741.1:c.67+7G>A;NM_001666.4:c.67+7G>A 467026550 192526096 20101123_snps_13193780_chrX_153191583 4.22e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191583C>T;NG_013220.1:g.5132G>A;NM_001164741.1:c.67+7G>A;NM_001666.4:c.67+7G>A 491205785 192526096 20110521_exome_713583_chrX_153191583 4.22e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153191638G>C;NG_013220.1:g.5077C>G;NM_001164741.1:c.19C>G;NM_001666.4:c.19C>G;NP_001158213.1:p.Leu7Val;NP_001657.3:p.Leu7Val 8546907 6643803 NT_025965.11_530917 2003.05.23 2003.10.10 2003.07.11 2011.07.08 137 SC_SNP 393 NC_000023.10:g.153191641T>C;NG_013220.1:g.5074A>G;NM_001164741.1:c.16A>G;NM_001666.4:c.16A>G;NP_001158213.1:p.Lys6Glu;NP_001657.3:p.Lys6Glu 8546908 6643804 NT_025965.11_530920 2003.05.23 2003.10.10 2003.07.11 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153191644C>T;NG_013220.1:g.5071G>A;NM_001164741.1:c.13G>A;NM_001666.4:c.13G>A;NP_001158213.1:p.Gly5Arg;NP_001657.3:p.Gly5Arg 489234780 201969542 20110521_exome_290587_chrX_153191644 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191674G>C;NG_013220.1:g.5041C>G;NM_001164741.1:c.-18C>G;NM_001666.4:c.-18C>G 489234782 201476669 20110521_exome_290588_chrX_153191674 1.21e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SSAHASNP 393 NC_000023.10:g.153191716G>A;NG_013220.1:g.4999C>T;NM_001164741.1:c.-60C>T;NM_001666.4:c.-60C>T 20984287 12834662 WGSA-200403-chrX.chrX.NT_025965.12_543691 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 ABI 393 NC_000023.10:g.153191716G>A;NG_013220.1:g.4999C>T;NM_001164741.1:c.-60C>T;NM_001666.4:c.-60C>T 43805993 12834662 hCV27158722 2005.07.18 2005.07.18 2004.04.05 2011.07.08 137 ENSEMBL 393 NC_000023.10:g.153191716G>A;NG_013220.1:g.4999C>T;NM_001164741.1:c.-60C>T;NM_001666.4:c.-60C>T 133989823 12834662 ENSSNP3113961 2009.05.13 2009.10.14 2004.04.05 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153191728_153191729insG;NG_013220.1:g.4986_4987insC;NM_001164741.1:c.-73_-72insC;NM_001666.4:c.-73_-72insC 500142573 200133910 20110316_indels_chrX_153191728_153191729 6.03e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191791G>A;NG_013220.1:g.4924C>T;NM_001164741.1:c.-135C>T;NM_001666.4:c.-135C>T 467026551 184518453 20101123_snps_13193781_chrX_153191791 2.53e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 393 NC_000023.10:g.153191854C>G;NG_013220.1:g.4861G>C;NM_001164741.1:c.-198G>C;NM_001666.4:c.-198G>C 208933008 113243502 BCM_CMT_1011-3388443 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 BCM_SSAHASNP 393 NC_000023.10:g.153191859C>T;NG_013220.1:g.4856G>A;NM_001164741.1:c.-203G>A;NM_001666.4:c.-203G>A 10577790 7065799 chrX.NT_025965.11_531138 7.23e-03 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191859C>T;NG_013220.1:g.4856G>A;NM_001164741.1:c.-203G>A;NM_001666.4:c.-203G>A 341907793 7065799 20100804_snps_659464_chrX_153191859 7.23e-03 2011.03.25 2011.03.25 2003.07.11 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153191865C>A;NG_013220.1:g.4850G>T;NM_001164741.1:c.-209G>T;NM_001666.4:c.-209G>T 467026552 189299300 20101123_snps_13193782_chrX_153191865 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153191915G>A;NG_013220.1:g.4800C>T;NM_001164741.1:c.-259C>T;NM_001666.4:c.-259C>T 467026553 180999371 20101123_snps_13193783_chrX_153191915 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 393 NC_000023.10:g.153192028C>A;NG_013220.1:g.4687G>T;NM_001164741.1:c.-372G>T;NM_001666.4:c.-372G>T 4042747 2855587 U52112.1_79511 2001.09.26 2003.10.10 2001.09.28 2011.09.09 137 ILLUMINA 393 NC_000023.10:g.153192028C>A;NG_013220.1:g.4687G>T;NM_001164741.1:c.-372G>T;NM_001666.4:c.-372G>T 74990366 2855587 ILMN_Human_1M_rs2855587 2007.08.29 2007.08.29 2001.09.28 2011.09.09 137 KRIBB_YJKIM 393 NC_000023.10:g.153192028C>A;NG_013220.1:g.4687G>T;NM_001164741.1:c.-372G>T;NM_001666.4:c.-372G>T 119448322 2855587 KHS1610569 2009.02.04 2009.02.04 2001.09.28 2011.09.09 137 ILLUMINA 393 NC_000023.10:g.153192028C>A;NG_013220.1:g.4687G>T;NM_001164741.1:c.-372G>T;NM_001666.4:c.-372G>T 173505033 2855587 Human1M-Duov3_B_rs2855587-128_B_R_1513972209 2009.10.03 2009.10.03 2001.09.28 2011.09.09 137 SI_EXO 393 NC_000023.10:g.153192142C>T;NG_013220.1:g.4573G>A;NM_001164741.1:c.-486G>A;NM_001666.4:c.-486G>A 61712869 41313418 NT_025965.13_544105 2006.07.11 2006.08.17 2006.10.18 2011.07.08 137 1000GENOMES 393 NC_000023.10:g.153192175C>T;NG_013220.1:g.4540G>A;NM_001164741.1:c.-519G>A;NM_001666.4:c.-519G>A 467026554 184257889 20101123_snps_13193784_chrX_153192175 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 393 NC_000023.10:g.153192274G>C;NG_013220.1:g.4441C>G;NM_001164741.1:c.-618C>G;NM_001666.4:c.-618C>G 8279547 5987184 NT_025965.9_531553 2003.04.17 2003.10.10 2003.04.21 2011.07.08 137 GMI 393 NC_000023.10:g.153192349C>A;NG_013220.1:g.4366G>T;NM_001164741.1:c.-693G>T;NM_001666.4:c.-693G>T 157804462 79022793 GMI_SNP_38700681 3.32e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 393 NC_000023.10:g.153192349C>A;NG_013220.1:g.4366G>T;NM_001164741.1:c.-693G>T;NM_001666.4:c.-693G>T 283908252 79022793 GMI_AK_SNP_8228734 3.32e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153192349C>A;NG_013220.1:g.4366G>T;NM_001164741.1:c.-693G>T;NM_001666.4:c.-693G>T 341907794 79022793 20100804_snps_659465_chrX_153192349 3.32e-02 2011.03.25 2011.03.25 2009.12.01 2012.11.28 137 YUSUKE 393 NC_000023.10:g.153192433C>A;NG_013220.1:g.4282G>T;NM_001164741.1:c.-777G>T;NM_001666.4:c.-777G>T 3203425 2269369 IMS-JST023509 6.51e-02 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153192433C>A;NG_013220.1:g.4282G>T;NM_001164741.1:c.-777G>T;NM_001666.4:c.-777G>T 341907795 2269369 20100804_snps_659466_chrX_153192433 6.51e-02 2011.03.25 2011.03.25 2001.09.28 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153192434G>A;NG_013220.1:g.4281C>T;NM_001164741.1:c.-778C>T;NM_001666.4:c.-778C>T 467026555 189953515 20101123_snps_13193785_chrX_153192434 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 393 NC_000023.10:g.153192442delC;NG_013220.1:g.4273delG;NM_001164741.1:c.-786delG;NM_001666.4:c.-786delG 43618038 34322798 hCV34424829 2005.07.18 2005.07.18 2006.03.13 2012.05.11 137 DEVINE_LAB 393 NC_000023.10:g.153192442delC;NG_013220.1:g.4273delG;NM_001164741.1:c.-786delG;NM_001666.4:c.-786delG 100350584 34322798 INDEL_GP36_2008a_1174204_0 2008.05.16 2008.05.16 2006.03.13 2012.05.11 137 1000GENOMES 393 NC_000023.10:g.153192640G>A;NG_013220.1:g.4075C>T;NM_001164741.1:c.-984C>T;NM_001666.4:c.-984C>T 467026556 181171689 20101123_snps_13193786_chrX_153192640 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153192766T>A;NG_013220.1:g.3949A>T;NM_001164741.1:c.-1110A>T;NM_001666.4:c.-1110A>T 341907796 150664734 20100804_snps_659467_chrX_153192766 2.41e-03 2011.03.25 2011.03.25 2011.05.09 2011.09.09 137 1000GENOMES 393 NC_000023.10:g.153192775G>A;NG_013220.1:g.3940C>T;NM_001164741.1:c.-1119C>T;NM_001666.4:c.-1119C>T 467026557 187012026 20101123_snps_13193787_chrX_153192775 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 NC_000023.10:g.153192809G>A;NG_013220.1:g.3906C>T;NM_001164741.1:c.-1153C>T;NM_001666.4:c.-1153C>T 467026558 190458995 20101123_snps_13193788_chrX_153192809 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 393 ARRAY(0x94a12e30) 500142577 201082785 20110316_indels_chrX_153192949_153192950 8.44e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 SC_JCM 393 NC_000023.10:g.153193139C>A;NG_013220.1:g.3576G>T;NM_001164741.1:c.-1483G>T;NM_001666.4:c.-1483G>T 4042748 2855588 U52112.1_80622 2001.09.26 2003.10.10 2001.09.28 2011.07.08 137 WI_SSAHASNP 393 NC_000023.10:g.153193148G>A;NG_013220.1:g.3567C>T;NM_001164741.1:c.-1492C>T;NM_001666.4:c.-1492C>T 6769020 4898462 NT_025965.9_532427 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 ABI 393 NC_000023.10:g.153193644C>T;NG_013220.1:g.3071G>A;NM_001164741.1:c.-1988G>A;NM_001666.4:c.-1988G>A 43958707 35766125 hCV34424828 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 SC_SNP 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 8279548 5987185 NT_025965.9_532944 1.81e-03 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 SSAHASNP 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 21047718 5987185 WGSA-200403-chrX.chrX.NT_025965.12_545640 1.81e-03 2004.03.19 2004.03.19 2003.04.21 2012.11.28 137 ABI 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 43856408 5987185 hCV30449955 1.81e-03 2005.07.18 2005.07.18 2003.04.21 2012.11.28 137 HGSV 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 81009454 5987185 Cor18507_SNV_20070510.chrX_152714512 1.81e-03 2007.11.27 2007.11.27 2003.04.21 2012.11.28 137 BGI 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 105777046 5987185 BGI_rs5987185 1.81e-03 2008.09.12 2009.06.19 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 115335838 5987185 NA19240_2008_12_16_3585616_chrX_152846859 1.81e-03 2008.12.19 2008.12.19 2003.04.21 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 133989817 5987185 ENSSNP3113964 1.81e-03 2009.05.13 2009.10.14 2003.04.21 2012.11.28 137 GMI 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 157804467 5987185 GMI_SNP_176724908 1.81e-03 2009.06.25 2009.06.25 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 163350704 5987185 NA07022_36_chrX_152846859 1.81e-03 2009.09.29 2009.09.29 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 165815101 5987185 NA19240_36_chrX_152846859 1.81e-03 2009.09.30 2009.09.30 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 166646301 5987185 NA20431_36_chrX_152846859 1.81e-03 2009.09.30 2009.09.30 2003.04.21 2012.11.28 137 BL 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 256154160 5987185 SNP61308_X_152846859 1.81e-03 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 283908253 5987185 GMI_AK_SNP_8228735 1.81e-03 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 294528121 5987185 SNP_4034479_chrX_152846859 1.81e-03 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153193665A>C;NG_013220.1:g.3050T>G;NM_001164741.1:c.-2009T>G;NM_001666.4:c.-2009T>G 341907798 5987185 20100804_snps_659469_chrX_153193665 1.81e-03 2011.03.25 2011.03.25 2003.04.21 2012.11.28 137 TSC-CSHL 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 4062758 2872602 TSC1725223 3.62e-03 2001.10.02 2003.10.10 2001.11.05 2012.11.28 137 SC_SNP 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 8279549 2872602 NT_025965.9_532962 3.62e-03 2003.04.17 2003.10.10 2001.11.05 2012.11.28 137 SSAHASNP 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 20984130 2872602 WGSA-200403-chrX.chrX.NT_025965.12_545658 3.62e-03 2004.03.19 2004.03.19 2001.11.05 2012.11.28 137 HGSV 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 78941497 2872602 Cor18507_SNV_20070510.chrX_152714530 3.62e-03 2007.10.21 2007.10.21 2001.11.05 2012.11.28 137 BGI 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 105777047 2872602 BGI_rs2872602 3.62e-03 2008.09.12 2009.06.19 2001.11.05 2012.11.28 137 ENSEMBL 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 133989814 2872602 ENSSNP3113965 3.62e-03 2009.05.13 2009.10.14 2001.11.05 2012.11.28 137 GMI 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 157804476 2872602 GMI_SNP_119499643 3.62e-03 2009.06.25 2009.06.25 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 163350710 2872602 NA07022_36_chrX_152846877 3.62e-03 2009.09.29 2009.09.29 2001.11.05 2012.11.28 137 COMPLETE_GENOMICS 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 166646312 2872602 NA20431_36_chrX_152846877 3.62e-03 2009.09.30 2009.09.30 2001.11.05 2012.11.28 137 GMI 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 283908254 2872602 GMI_AK_SNP_8228736 3.62e-03 2010.12.16 2010.12.16 2001.11.05 2012.11.28 137 PJP 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 294528122 2872602 SNP_4034480_chrX_152846877 3.62e-03 2011.01.21 2011.01.21 2001.11.05 2012.11.28 137 1000GENOMES 393 NC_000023.10:g.153193683T>C;NG_013220.1:g.3032A>G;NM_001164741.1:c.-2027A>G;NM_001666.4:c.-2027A>G 341907799 2872602 20100804_snps_659470_chrX_153193683 3.62e-03 2011.03.25 2011.03.25 2001.11.05 2012.11.28 137 # Report date: 2013.2.9, Gene: ARHGAP4 (393), ss count: 817, rs count: 313.