# 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 10214 NC_000023.10:g.48205384C>T;NG_012561.1:g.15759G>A;NM_021014.2:c.*1091G>A 466498806 183063219 20101123_snps_12666036_chrX_48205384 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48205498G>A;NG_012561.1:g.15645C>T;NM_021014.2:c.*977C>T 466498807 189037398 20101123_snps_12666037_chrX_48205498 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 10214 NC_000023.10:g.48205577A>T;NG_012561.1:g.15566T>A;NM_021014.2:c.*898T>A 12052071 7889704 chrX.NT_011568.12_11025445 4.94e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48205577A>T;NG_012561.1:g.15566T>A;NM_021014.2:c.*898T>A 466498808 7889704 20101123_snps_12666038_chrX_48205577 4.94e-02 2011.07.20 2011.07.20 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48205695C>T;NG_012561.1:g.15448G>A;NM_021014.2:c.*780G>A 466498809 182754561 20101123_snps_12666039_chrX_48205695 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 10214 NC_000023.10:g.48205715C>T;NG_012561.1:g.15428G>A;NM_021014.2:c.*760G>A 105731316 72619013 BGI_YHSNP0389211 7.23e-03 2008.09.11 2009.06.19 2009.02.14 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48205715C>T;NG_012561.1:g.15428G>A;NM_021014.2:c.*760G>A 341472834 72619013 20100804_snps_224538_chrX_48205715 7.23e-03 2011.03.24 2011.03.24 2009.02.14 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48205797T>C;NG_012561.1:g.15346A>G;NM_021014.2:c.*678A>G 341472835 145506332 20100804_snps_224539_chrX_48205797 5.42e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48205833C>T;NG_012561.1:g.15310G>A;NM_021014.2:c.*642G>A 208938503 113803892 BCM_CMT_1011-3393938 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 CSHL-HAPMAP 10214 NC_000023.10:g.48205898C>A;NG_012561.1:g.15245G>T;NM_021014.2:c.*577G>T 19820746 12559241 CSHL-HuDD-200402.chrX.NT_011568.13_4615288 3.68e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48205898C>A;NG_012561.1:g.15245G>T;NM_021014.2:c.*577G>T 341472836 12559241 20100804_snps_224540_chrX_48205898 3.68e-02 Variation due to paralogous sequence differences (PMID: 21030649). 2011.03.24 2011.03.24 2004.02.28 2012.11.28 137 DEVINE_LAB 10214 NC_000023.10:g.48206013_48206014insGT;NG_012561.1:g.15129_15130insAC;NM_021014.2:c.*461_*462insAC 15071678 10642458 INDEL_GP34_WGS_161077 2003.11.13 2003.11.22 2003.12.05 2011.07.08 137 DEVINE_LAB 10214 NC_000023.10:g.48206014_48206015insGT;NG_012561.1:g.15128_15129insAC;NM_021014.2:c.*460_*461insAC 50100321 34831523 INDEL_GP35_WGS_304348 2006.01.24 2006.01.24 2006.03.14 2011.07.08 137 DEVINE_LAB 10214 NC_000023.10:g.48206014_48206015insGT;NG_012561.1:g.15128_15129insAC;NM_021014.2:c.*460_*461insAC 99562330 34831523 INDEL_GP36_2007a_442150_0 2008.05.05 2008.05.05 2006.03.14 2011.07.08 137 DEVINE_LAB 10214 NC_000023.10:g.48206014_48206023delGTGTGTGTCT;NG_012561.1:g.15120_15129delAGACACACAC;NM_021014.2:c.*452_*461delAGACACACAC 101175909 72172699 INDEL_GP36_2008a_2349379_0 2008.05.17 2008.05.17 2009.02.13 2012.11.28 137 GMI 10214 NC_000023.10:g.48206014_48206023delGTGTGTGTCT;NG_012561.1:g.15120_15129delAGACACACAC;NM_021014.2:c.*452_*461delAGACACACAC 478840749 72172699 GMI_AK_INDEL_1143592 2011.12.30 2011.12.30 2009.02.13 2012.11.28 137 DEVINE_LAB 10214 NC_000023.10:g.48206021_48206022delTC;NG_012561.1:g.15121_15122delGA;NM_021014.2:c.*453_*454delGA 100143188 71822704 INDEL_GP36_2008a_2349316_0 2.78e-01 2008.05.16 2008.05.16 2009.02.13 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206021_48206022delTC;NG_012561.1:g.15121_15122delGA;NM_021014.2:c.*453_*454delGA 499989758 71822704 20110316_indels_chrX_48206020_48206021 2.78e-01 2012.03.20 2012.03.20 2009.02.13 2012.11.28 137 SC_JCM 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 4371578 3125215 AL606490.13_80685 2002.02.19 2003.10.10 2002.03.26 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 8238647 3125215 NT_011568.10_4720014 2003.04.17 2003.10.10 2002.03.26 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 8489256 3125215 NT_011568.12_11025890 2003.05.23 2003.10.10 2002.03.26 2012.11.28 137 WI_SSAHASNP 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 12053459 3125215 chrX.NT_011568.12_11025890 2003.07.04 2003.10.10 2002.03.26 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 19820903 3125215 CSHL-HuDD-200402.chrX.NT_011568.13_4615412 2004.02.21 2004.03.04 2002.03.26 2012.11.28 137 HGSV 10214 NC_000023.10:g.48206022_48206031delCTGTGTGTGT;NG_012561.1:g.15112_15121delACACACACAG;NM_021014.2:c.*444_*453delACACACACAG 82439040 57540539 Cor19240_DIV_20070510.chrX_47962275-47962286_1 2007.12.02 2007.12.02 2007.12.14 2011.07.08 137 HGSV 10214 NC_000023.10:g.48206022_48206031delCTGTGTGTGT;NG_012561.1:g.15112_15121delACACACACAG;NM_021014.2:c.*444_*453delACACACACAG 82502017 57540539 Cor19240_DIV_20070510.chrX_47962275-47962286_2 2007.12.02 2007.12.02 2007.12.14 2011.07.08 137 HGSV 10214 NC_000023.10:g.48206022_48206031delCTGTGTGTGT;NG_012561.1:g.15112_15121delACACACACAG;NM_021014.2:c.*444_*453delACACACACAG 83056532 57540539 Cor19240_DIV_20070510.chrX_47962275-47962286_3 2007.12.04 2007.12.04 2007.12.14 2011.07.08 137 HGSV 10214 NC_000023.10:g.48206022_48206031delCTGTGTGTGT;NG_012561.1:g.15112_15121delACACACACAG;NM_021014.2:c.*444_*453delACACACACAG 83062792 57540539 Cor19240_DIV_20070510.chrX_47962275-47962286_4 2007.12.04 2007.12.04 2007.12.14 2011.07.08 137 HGSV 10214 NC_000023.10:g.48206022_48206031delCTGTGTGTGT;NG_012561.1:g.15112_15121delACACACACAG;NM_021014.2:c.*444_*453delACACACACAG 83586516 57540539 Cor18517_DIV_20070510.chrX_47962275-47962286_1 2007.12.05 2007.12.05 2007.12.14 2011.07.08 137 BCMHGSC_JDW 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 94280759 3125215 JWB-2678409 2008.03.06 2008.03.06 2002.03.26 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 133967535 3125215 ENSSNP3136300 2009.05.13 2009.10.14 2002.03.26 2012.11.28 137 BL 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 255993705 3125215 SNP18028_X_48090966 2010.08.20 2010.08.20 2002.03.26 2012.11.28 137 GMI 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 283748287 3125215 GMI_AK_SNP_8068730 2010.12.16 2010.12.16 2002.03.26 2012.11.28 137 PJP 10214 NC_000023.10:g.48206022C>G;NG_012561.1:g.15121G>C;NM_021014.2:c.*453G>C 294449300 3125215 SNP_3955658_chrX_48090966 2011.01.21 2011.01.21 2002.03.26 2012.11.28 137 DEVINE_LAB 10214 NC_000023.10:g.48206027delT;NC_000023.10:g.48206027delTinsTGTGTGTGTG;NG_012561.1:g.15116delA;NG_012561.1:g.15116delAinsCACACACACA;NM_021014.2:c.*448delA;NM_021014.2:c.*448delAinsCACACACACA 102138596 67730228 INDEL_GP36_2008a_2349551_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 10214 NC_000023.10:g.48206027delT;NC_000023.10:g.48206027delTinsTGTGTGTGTG;NG_012561.1:g.15116delA;NG_012561.1:g.15116delAinsCACACACACA;NM_021014.2:c.*448delA;NM_021014.2:c.*448delAinsCACACACACA 102138600 67730228 INDEL_GP36_2008a_2349551_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 10214 NC_000023.10:g.48206027delT;NC_000023.10:g.48206027delTinsTGTGTGTGTG;NG_012561.1:g.15116delA;NG_012561.1:g.15116delAinsCACACACACA;NM_021014.2:c.*448delA;NM_021014.2:c.*448delAinsCACACACACA 102138602 67730228 INDEL_GP36_2008a_2349551_2 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 10214 NC_000023.10:g.48206030_48206037delGTGTGTGT;NG_012561.1:g.15106_15113delACACACAC;NM_021014.2:c.*438_*445delACACACAC 101767626 72271631 INDEL_GP36_2008a_2349317_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 BL 10214 NC_000023.10:g.48206035delT;NG_012561.1:g.15108delA;NM_021014.2:c.*440delA 256212255 150570342 SNP1997_X_48090978 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48206056G>T;NG_012561.1:g.15087C>A;NM_021014.2:c.*419C>A 466498810 187675676 20101123_snps_12666040_chrX_48206056 1.21e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48206068A>G;NG_012561.1:g.15075T>C;NM_021014.2:c.*407T>C 466498811 192850766 20101123_snps_12666041_chrX_48206068 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48206127A>G;NG_012561.1:g.15016T>C;NM_021014.2:c.*348T>C 341472837 142898181 20100804_snps_224541_chrX_48206127 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48206197T>G;NG_012561.1:g.14946A>C;NM_021014.2:c.*278A>C 466498812 184218382 20101123_snps_12666042_chrX_48206197 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48206398A>G;NG_012561.1:g.14745T>C;NM_021014.2:c.*77T>C 466498813 188889290 20101123_snps_12666043_chrX_48206398 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48206467A>G;NG_012561.1:g.14676T>C;NM_021014.2:c.*8T>C 341472838 146610033 20100804_snps_224542_chrX_48206467 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48206475G>A;NG_012561.1:g.14668C>T;NM_021014.2:c.*5-5C>T 466498814 192145445 20101123_snps_12666044_chrX_48206475 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48206659C>T;NG_012561.1:g.14484G>A;NM_021014.2:c.*5-189G>A 341472839 141394261 20100804_snps_224543_chrX_48206659 1.21e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 BCM_SSAHASNP 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 13724908 9887689 chrX.NT_011568.13_4616082 1.76e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 20397434 9887689 CSHL-HuFF-200402.chrX.NT_011568.13_4616082 1.76e-01 2004.02.22 2004.03.04 2003.12.05 2012.11.28 137 ABI 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 43626919 9887689 hCV26687823 1.76e-01 2005.07.18 2005.07.18 2003.12.05 2012.11.28 137 SI_EXO 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 71649142 9887689 NT_079573.3_11058459 1.76e-01 2007.05.07 2007.05.07 2003.12.05 2012.11.28 137 HGSV 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 83526740 9887689 Cor18555_SNV_20070510.chrX_47962946 1.76e-01 2007.12.05 2007.12.05 2003.12.05 2012.11.28 137 GMI 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 157467453 9887689 GMI_SNP_176746574 1.76e-01 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 161795254 9887689 ENSSNP3136302 1.76e-01 2009.09.25 2010.03.07 2003.12.05 2012.11.28 137 GMI 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 283748288 9887689 GMI_AK_SNP_8068731 1.76e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206692C>T;NG_012561.1:g.14451G>A;NM_021014.2:c.*5-222G>A 341472840 9887689 20100804_snps_224544_chrX_48206692 1.76e-01 2011.03.24 2011.03.24 2003.12.05 2012.11.28 137 BCM_SSAHASNP 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 13724912 9887693 chrX.NT_011568.13_4616112 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 20397485 9887693 CSHL-HuFF-200402.chrX.NT_011568.13_4616112 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2004.02.22 2004.03.04 2003.12.05 2012.11.28 137 ABI 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 43895990 9887693 hCV26687824 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2005.07.18 2005.07.18 2003.12.05 2012.11.28 137 SI_EXO 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 71643518 9887693 NT_079573.3_11058489 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2007.05.07 2007.05.07 2003.12.05 2012.11.28 137 HGSV 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 82264881 9887693 Cor18555_SNV_20070510.chrX_47962976 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2007.12.02 2007.12.02 2003.12.05 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 161795256 9887693 ENSSNP3136303 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2009.09.25 2010.03.07 2003.12.05 2012.11.28 137 GMI 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 283748289 9887693 GMI_AK_SNP_8068732 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206722C>G;NG_012561.1:g.14421G>C;NM_021014.2:c.*4+213G>C 341472841 9887693 20100804_snps_224545_chrX_48206722 1.73e-01 Variation due to paralogous sequence differences (PMID: 21030649). 2011.03.24 2011.03.24 2003.12.05 2012.11.28 137 BCM_SSAHASNP 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 13724914 9887695 chrX.NT_011568.13_4616136 2.13e-01 2003.11.05 2003.11.22 2003.12.05 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 20397486 9887695 CSHL-HuFF-200402.chrX.NT_011568.13_4616136 2.13e-01 2004.02.22 2004.03.04 2003.12.05 2012.11.28 137 ABI 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 43868609 9887695 hCV26687825 2.13e-01 2005.07.18 2005.07.18 2003.12.05 2012.11.28 137 SI_EXO 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 71642458 9887695 NT_079573.3_11058513 2.13e-01 2007.05.07 2007.05.07 2003.12.05 2012.11.28 137 HGSV 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 83276292 9887695 Cor18555_SNV_20070510.chrX_47963000 2.13e-01 2007.12.04 2007.12.04 2003.12.05 2012.11.28 137 GMI 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 157467461 9887695 GMI_SNP_38848292 2.13e-01 2009.06.25 2009.06.25 2003.12.05 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 161795257 9887695 ENSSNP3136304 2.13e-01 2009.09.25 2010.03.07 2003.12.05 2012.11.28 137 GMI 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 283748290 9887695 GMI_AK_SNP_8068733 2.13e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206746C>G;NG_012561.1:g.14397G>C;NM_021014.2:c.*4+189G>C 341472842 9887695 20100804_snps_224546_chrX_48206746 2.13e-01 2011.03.24 2011.03.24 2003.12.05 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206827A>C;NG_012561.1:g.14316T>G;NM_021014.2:c.*4+108T>G 341472843 150413583 20100804_snps_224547_chrX_48206827 0 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 CSHL-HAPMAP 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 20391125 12688751 CSHL-HuFF-200402.chrX.NT_011568.13_4616221 1.60e-01 2004.02.22 2004.03.04 2004.02.28 2012.11.28 137 ABI 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 43658437 12688751 hCV26687827 1.60e-01 2005.07.18 2006.11.03 2004.02.28 2012.11.28 137 PERLEGEN 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 69261728 12688751 PGP05430334 1.60e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 SI_EXO 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 71644466 12688751 NT_079573.3_11058598 1.60e-01 2007.05.07 2008.03.31 2004.02.28 2012.11.28 137 AFFY 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 76442471 12688751 AFFY_6_1M_SNP_A-8303374 1.60e-01 2007.08.30 2007.08.30 2004.02.28 2012.11.28 137 HGSV 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 81499924 12688751 Cor18555_SNV_20070510.chrX_47963085 1.60e-01 2007.11.30 2007.11.30 2004.02.28 2012.11.28 137 KRIBB_YJKIM 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 105064427 12688751 KHS1456750 1.60e-01 2008.07.11 2008.07.11 2004.02.28 2012.11.28 137 GMI 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 157467469 12688751 GMI_SNP_38556331 1.60e-01 2009.06.25 2009.06.25 2004.02.28 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 161795260 12688751 ENSSNP3136305 1.60e-01 2009.09.25 2010.03.07 2004.02.28 2012.11.28 137 GMI 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 283748291 12688751 GMI_AK_SNP_8068734 1.60e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206831T>C;NG_012561.1:g.14312A>G;NM_021014.2:c.*4+104A>G 341472844 12688751 20100804_snps_224548_chrX_48206831 1.60e-01 2011.03.24 2011.03.24 2004.02.28 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206908C>T;NG_012561.1:g.14235G>A;NM_021014.2:c.*4+27G>A 466498815 184697861 20101123_snps_12666045_chrX_48206908 4.94e-02 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206908C>T;NG_012561.1:g.14235G>A;NM_021014.2:c.*4+27G>A 491200200 184697861 20110521_exome_707998_chrX_48206908 4.94e-02 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 8489257 6609714 NT_011568.12_11026779 3.97e-01 2003.05.23 2004.10.30 2003.07.11 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 19823168 6609714 CSHL-HuDD-200402.chrX.NT_011568.13_4616301 3.97e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 21043055 6609714 WGSA-200403-chrX.chrX.NT_011568.13_4616301 3.97e-01 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 ABI 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 43578196 6609714 hCV33612987 3.97e-01 2005.07.18 2005.07.18 2003.07.11 2012.11.28 137 SI_EXO 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 71642463 6609714 NT_079573.3_11058678 3.97e-01 2007.05.07 2007.05.07 2003.07.11 2012.11.28 137 HGSV 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 77317677 6609714 Cor12156_SNV_20070510.chrX_47963165 3.97e-01 2007.10.10 2007.10.12 2003.07.11 2012.11.28 137 BGI 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 105731317 6609714 BGI_rs6609714 3.97e-01 2008.09.11 2009.06.19 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 112881680 6609714 CEU.trio.12.15.2008_3866391_chrX_48091855 3.97e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 161795262 6609714 ENSSNP3136306 3.97e-01 2009.09.25 2010.03.07 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 163108743 6609714 NA07022_36_chrX_48091855 3.97e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 BUSHMAN 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 204232978 6609714 BUSHMAN-chrX-48091854 3.97e-01 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 GMI 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 283748292 6609714 GMI_AK_SNP_8068735 3.97e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 341472845 6609714 20100804_snps_224549_chrX_48206911 3.97e-01 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48206911G>A;NG_012561.1:g.14232C>T;NM_021014.2:c.*4+24C>T 491200201 6609714 20110521_exome_707999_chrX_48206911 3.97e-01 2012.02.22 2012.02.22 2003.07.11 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48206960A>G;NG_012561.1:g.14183T>C;NM_021014.2:c.546T>C;NP_066294.1:p.Asp182= 342552833 139025679 ESP2500-chrX-48206960 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48206990C>T;NG_012561.1:g.14153G>A;NM_021014.2:c.516G>A;NP_066294.1:p.Lys172= 341472846 143531506 20100804_snps_224550_chrX_48206990 2.41e-03 2011.03.24 2011.03.24 2011.05.09 2011.07.08 137 NHLBI-ESP 10214 NC_000023.10:g.48206990C>T;NG_012561.1:g.14153G>A;NM_021014.2:c.516G>A;NP_066294.1:p.Lys172= 342552834 143531506 ESP2500-chrX-48206990 2.41e-03 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 10214 NC_000023.10:g.48207027C>G;NG_012561.1:g.14116G>C;NM_021014.2:c.479G>C;NP_066294.1:p.Gly160Ala 342552835 145941341 ESP2500-chrX-48207027 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 10214 NC_000023.10:g.48207027C>G;NG_012561.1:g.14116G>C;NM_021014.2:c.479G>C;NP_066294.1:p.Gly160Ala 491576490 145941341 nonsyn_292716_chr_X_48207027 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48207027C>G;NG_012561.1:g.14116G>C;NM_021014.2:c.479G>C;NP_066294.1:p.Gly160Ala 491950504 145941341 SNV-chrX-48091971 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48207029C>G;NG_012561.1:g.14114G>C;NM_021014.2:c.477G>C;NP_066294.1:p.Arg159Ser 342552836 138449915 ESP2500-chrX-48207029 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 10214 NC_000023.10:g.48207029C>G;NG_012561.1:g.14114G>C;NM_021014.2:c.477G>C;NP_066294.1:p.Arg159Ser 491576491 138449915 nonsyn_292717_chr_X_48207029 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 ABI 10214 NC_000023.10:g.48207106delA;NG_012561.1:g.14037delT;NM_021014.2:c.467-67delT 43667780 35238410 hCV33612988 2005.07.18 2005.07.18 2006.03.14 2011.07.08 137 ABI 10214 NC_000023.10:g.48207254_48207255insT;NG_012561.1:g.13888_13889insA;NM_021014.2:c.467-216_467-215insA;NM_175711.1:c.*193+437_*193+438insA 43805627 35721009 hCV33612989 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 SC_SNP 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 8176960 5905681 NT_011568.10_4721301 2.77e-02 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 8823908 5905681 NT_011568.12_11027177 2.77e-02 2003.06.05 2003.10.10 2003.04.21 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 17293168 5905681 CSHL-HuAA-200402.chrX.NT_011568.13_4616699 2.77e-02 2004.02.18 2004.03.04 2003.04.21 2012.11.28 137 SSAHASNP 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 21062040 5905681 WGSA-200403-chrX.chrX.NT_011568.13_4616699 2.77e-02 2004.03.19 2004.03.19 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 77810313 5905681 Cor12156_SNV_20070510.chrX_47963563 2.77e-02 2007.10.14 2007.10.14 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 85959444 5905681 Cor19129_SNV_20070510.chrX_47963563 2.77e-02 2007.12.10 2007.12.10 2003.04.21 2012.11.28 137 BCMHGSC_JDW 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 94280763 5905681 JWB-2678410 2.77e-02 2008.03.06 2008.03.06 2003.04.21 2012.11.28 137 BGI 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 105731318 5905681 BGI_rs5905681 2.77e-02 2008.09.11 2009.06.19 2003.04.21 2012.11.28 137 ILLUMINA-UK 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 115613477 5905681 NA18507_000030882_NCBI36.1_chrX_48092253 2.77e-02 2009.01.15 2009.01.15 2003.04.21 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 133967532 5905681 ENSSNP3136307 2.77e-02 2009.05.13 2009.10.14 2003.04.21 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 144586493 5905681 ENSSNP13830563 2.77e-02 2009.06.07 2009.06.07 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 157467475 5905681 GMI_SNP_102233904 2.77e-02 2009.06.25 2009.06.25 2003.04.21 2012.11.28 137 BL 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 255993710 5905681 SNP18029_X_48092253 2.77e-02 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 283748293 5905681 GMI_AK_SNP_8068736 2.77e-02 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 294449301 5905681 SNP_3955659_chrX_48092253 2.77e-02 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48207309A>C;NG_012561.1:g.13834T>G;NM_021014.2:c.467-270T>G;NM_175711.1:c.*193+383T>G 341472847 5905681 20100804_snps_224551_chrX_48207309 2.77e-02 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 8176961 5905682 NT_011568.10_4721302 2.71e-02 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 8823909 5905682 NT_011568.12_11027178 2.71e-02 2003.06.05 2003.10.10 2003.04.21 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 17293224 5905682 CSHL-HuAA-200402.chrX.NT_011568.13_4616700 2.71e-02 2004.02.18 2004.03.04 2003.04.21 2012.11.28 137 SSAHASNP 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 21063054 5905682 WGSA-200403-chrX.chrX.NT_011568.13_4616700 2.71e-02 2004.03.19 2004.03.19 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 77771851 5905682 Cor12156_SNV_20070510.chrX_47963564 2.71e-02 2007.10.14 2007.10.14 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 85865779 5905682 Cor19129_SNV_20070510.chrX_47963564 2.71e-02 2007.12.10 2007.12.10 2003.04.21 2012.11.28 137 BCMHGSC_JDW 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 94280767 5905682 JWB-2678411 2.71e-02 2008.03.06 2008.03.06 2003.04.21 2012.11.28 137 BGI 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 105731319 5905682 BGI_rs5905682 2.71e-02 2008.09.11 2009.06.19 2003.04.21 2012.11.28 137 ILLUMINA-UK 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 115613478 5905682 NA18507_000030883_NCBI36.1_chrX_48092254 2.71e-02 2009.01.15 2009.01.15 2003.04.21 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 133967529 5905682 ENSSNP3136308 2.71e-02 2009.05.13 2009.10.14 2003.04.21 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 144586499 5905682 ENSSNP13830564 2.71e-02 2009.06.07 2009.06.07 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 157467480 5905682 GMI_SNP_101936166 2.71e-02 2009.06.25 2009.06.25 2003.04.21 2012.11.28 137 BL 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 255993714 5905682 SNP18030_X_48092254 2.71e-02 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 283748294 5905682 GMI_AK_SNP_8068737 2.71e-02 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 294449302 5905682 SNP_3955660_chrX_48092254 2.71e-02 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48207310A>C;NG_012561.1:g.13833T>G;NM_021014.2:c.467-271T>G;NM_175711.1:c.*193+382T>G 341472848 5905682 20100804_snps_224552_chrX_48207310 2.71e-02 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48207322A>G;NG_012561.1:g.13821T>C;NM_021014.2:c.467-283T>C;NM_175711.1:c.*193+370T>C 466498816 190578063 20101123_snps_12666046_chrX_48207322 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48207340C>G;NG_012561.1:g.13803G>C;NM_021014.2:c.467-301G>C;NM_175711.1:c.*193+352G>C 466498817 182223897 20101123_snps_12666047_chrX_48207340 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 10214 NC_000023.10:g.48207408_48207409insG;NC_000023.10:g.48207408_48207409insT;NG_012561.1:g.13734_13735insA;NG_012561.1:g.13734_13735insC;NM_021014.2:c.467-370_467-369insA;NM_021014.2:c.467-370_467-369insC;NM_175711.1:c.*193+283_*193+284insA;NM_175711.1:c.*193+283_*193+284insC 43753745 34896249 hCV33612990 2005.07.18 2005.07.18 2006.03.14 2012.05.16 137 HGSV 10214 NC_000023.10:g.48207408_48207409insG;NC_000023.10:g.48207408_48207409insT;NG_012561.1:g.13734_13735insA;NG_012561.1:g.13734_13735insC;NM_021014.2:c.467-370_467-369insA;NM_021014.2:c.467-370_467-369insC;NM_175711.1:c.*193+283_*193+284insA;NM_175711.1:c.*193+283_*193+284insC 78008130 34896249 Cor12156_DIV_20070510.chrX_47963662-47963663_1 2007.10.16 2007.10.16 2006.03.14 2012.05.16 137 1000GENOMES 10214 NC_000023.10:g.48207636T>C;NG_012561.1:g.13507A>G;NM_021014.2:c.467-597A>G;NM_175711.1:c.*193+56A>G 341472850 140648479 20100804_snps_224554_chrX_48207636 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48207676C>A;NG_012561.1:g.13467G>T;NM_021014.2:c.467-637G>T;NM_175711.1:c.*193+16G>T 466498818 184337982 20101123_snps_12666048_chrX_48207676 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48207699T>A;NG_012561.1:g.13444A>T;NM_021014.2:c.467-660A>T;NM_175711.1:c.*186A>T 466498819 189232022 20101123_snps_12666049_chrX_48207699 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48207722T>C;NG_012561.1:g.13421A>G;NM_021014.2:c.467-683A>G;NM_175711.1:c.*163A>G 466498820 181047825 20101123_snps_12666050_chrX_48207722 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 10214 NC_000023.10:g.48207848C>G;NG_012561.1:g.13295G>C;NM_021014.2:c.467-809G>C;NM_175711.1:c.*37G>C 283748295 141147589 GMI_AK_SNP_8068738 3.01e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48207848C>G;NG_012561.1:g.13295G>C;NM_021014.2:c.467-809G>C;NM_175711.1:c.*37G>C 341472851 141147589 20100804_snps_224555_chrX_48207848 3.01e-03 2011.03.24 2011.03.24 2011.05.09 2012.11.28 137 SSAHASNP 10214 NC_000023.10:g.48207936T>C;NG_012561.1:g.13207A>G;NM_021014.2:c.467-897A>G;NM_175711.1:c.*2-53A>G 21007339 12843154 WGSA-200403-chrX.chrX.NT_011568.13_4617326 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48207948A>G;NG_012561.1:g.13195T>C;NM_021014.2:c.467-909T>C;NM_175711.1:c.*2-65T>C 466498821 185471061 20101123_snps_12666051_chrX_48207948 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48207954G>C;NG_012561.1:g.13189C>G;NM_021014.2:c.467-915C>G;NM_175711.1:c.*2-71C>G 466498822 190283804 20101123_snps_12666052_chrX_48207954 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SSAHASNP 10214 NC_000023.10:g.48207968C>T;NG_012561.1:g.13175G>A;NM_021014.2:c.467-929G>A;NM_175711.1:c.*2-85G>A 20989046 12836477 WGSA-200403-chrX.chrX.NT_011568.13_4617358 2004.03.19 2004.03.19 2004.04.05 2012.11.28 137 SSAHASNP 10214 NC_000023.10:g.48207971T>C;NG_012561.1:g.13172A>G;NM_021014.2:c.467-932A>G;NM_175711.1:c.*2-88A>G 21007420 12843186 WGSA-200403-chrX.chrX.NT_011568.13_4617361 2004.03.19 2004.03.19 2004.04.05 2011.09.09 137 SSAHASNP 10214 NC_000023.10:g.48208004A>C;NG_012561.1:g.13139T>G;NM_021014.2:c.467-965T>G;NM_175711.1:c.*2-121T>G 20991420 12837306 WGSA-200403-chrX.chrX.NT_011568.13_4617394 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 SSAHASNP 10214 NC_000023.10:g.48208004A>C;NG_012561.1:g.13139T>G;NM_021014.2:c.467-965T>G;NM_175711.1:c.*2-121T>G 35482487 12837306 TA-079.chrX_47964258 2005.03.11 2004.04.05 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48208005T>C;NG_012561.1:g.13138A>G;NM_021014.2:c.467-966A>G;NM_175711.1:c.*2-122A>G 466498823 181502345 20101123_snps_12666053_chrX_48208005 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48208068C>T;NG_012561.1:g.13075G>A;NM_021014.2:c.467-1029G>A;NM_175711.1:c.*2-185G>A 341472852 150719214 20100804_snps_224556_chrX_48208068 4.82e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48208084_48208085insG;NG_012561.1:g.13058_13059insC;NM_021014.2:c.467-1046_467-1045insC;NM_175711.1:c.*2-202_*2-201insC 499989763 201693358 20110316_indels_chrX_48208084_48208085 3.13e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 ABI 10214 NC_000023.10:g.48208118G>T;NG_012561.1:g.13025C>A;NM_021014.2:c.467-1079C>A;NM_175711.1:c.*2-235C>A 43629956 34451946 hCV33612991 1.57e-02 2005.07.18 2005.07.18 2006.03.14 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48208118G>T;NG_012561.1:g.13025C>A;NM_021014.2:c.467-1079C>A;NM_175711.1:c.*2-235C>A 164888015 34451946 NA19240_36_chrX_48093062 1.57e-02 2009.09.30 2009.09.30 2006.03.14 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208118G>T;NG_012561.1:g.13025C>A;NM_021014.2:c.467-1079C>A;NM_175711.1:c.*2-235C>A 341472853 34451946 20100804_snps_224557_chrX_48208118 1.57e-02 2011.03.24 2011.03.24 2006.03.14 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208291A>G;NG_012561.1:g.12852T>C;NM_021014.2:c.466+1131T>C;NM_175711.1:c.*2-408T>C 466498824 186896433 20101123_snps_12666054_chrX_48208291 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48208369G>A;NG_012561.1:g.12774C>T;NM_021014.2:c.466+1053C>T;NM_175711.1:c.*2-486C>T 341472854 149909419 20100804_snps_224558_chrX_48208369 3.01e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48208396T>C;NG_012561.1:g.12747A>G;NM_021014.2:c.466+1026A>G;NM_175711.1:c.*2-513A>G 341472855 146599096 20100804_snps_224559_chrX_48208396 2.41e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48208459G>C;NG_012561.1:g.12684C>G;NM_021014.2:c.466+963C>G;NM_175711.1:c.*1+516C>G 341472856 140119833 20100804_snps_224560_chrX_48208459 2.89e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48208536T>C;NG_012561.1:g.12607A>G;NM_021014.2:c.466+886A>G;NM_175711.1:c.*1+439A>G 466498825 192180943 20101123_snps_12666055_chrX_48208536 4.22e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 10214 NC_000023.10:g.48208582G>C;NG_012561.1:g.12561C>G;NM_021014.2:c.466+840C>G;NM_175711.1:c.*1+393C>G 8238648 5953224 NT_011568.10_4722574 1.62e-01 2003.04.17 2003.10.10 2003.04.21 2011.09.09 137 SC_SNP 10214 NC_000023.10:g.48208582G>C;NG_012561.1:g.12561C>G;NM_021014.2:c.466+840C>G;NM_175711.1:c.*1+393C>G 19071869 5953224 SC-CHRX_NA17119-200402.chrX.NT_011568.13_4617972 1.62e-01 2004.02.20 2004.03.04 2003.04.21 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48208582G>C;NG_012561.1:g.12561C>G;NM_021014.2:c.466+840C>G;NM_175711.1:c.*1+393C>G 341472857 5953224 20100804_snps_224561_chrX_48208582 1.62e-01 2011.03.24 2011.03.24 2003.04.21 2011.09.09 137 SC_SNP 10214 NC_000023.10:g.48208584T>C;NG_012561.1:g.12559A>G;NM_021014.2:c.466+838A>G;NM_175711.1:c.*1+391A>G 8237744 5952502 NT_011568.10_4722576 1.64e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 BCM_SSAHASNP 10214 NC_000023.10:g.48208584T>C;NG_012561.1:g.12559A>G;NM_021014.2:c.466+838A>G;NM_175711.1:c.*1+391A>G 13724751 5952502 chrX.NT_011568.13_4617974 1.64e-01 2003.11.05 2006.10.25 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208584T>C;NG_012561.1:g.12559A>G;NM_021014.2:c.466+838A>G;NM_175711.1:c.*1+391A>G 341472858 5952502 20100804_snps_224562_chrX_48208584 1.64e-01 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208777G>A;NG_012561.1:g.12366C>T;NM_021014.2:c.466+645C>T;NM_175711.1:c.*1+198C>T 466498826 183958098 20101123_snps_12666056_chrX_48208777 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48208804G>A;NG_012561.1:g.12339C>T;NM_021014.2:c.466+618C>T;NM_175711.1:c.*1+171C>T 466498827 187726676 20101123_snps_12666057_chrX_48208804 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48208830G>T;NG_012561.1:g.12313C>A;NM_021014.2:c.466+592C>A;NM_175711.1:c.*1+145C>A 208934100 113618700 BCM_CMT_1011-3389535 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 WI_SSAHASNP 10214 NC_000023.10:g.48208889T>C;NG_012561.1:g.12254A>G;NM_021014.2:c.466+533A>G;NM_175711.1:c.*1+86A>G 12050246 7888765 chrX.NT_011568.12_11028757 4.94e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208889T>C;NG_012561.1:g.12254A>G;NM_021014.2:c.466+533A>G;NM_175711.1:c.*1+86A>G 341472859 7888765 20100804_snps_224563_chrX_48208889 4.94e-02 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208902T>G;NG_012561.1:g.12241A>C;NM_021014.2:c.466+520A>C;NM_175711.1:c.*1+73A>C 466498828 189860924 20101123_snps_12666058_chrX_48208902 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48208918T>C;NG_012561.1:g.12225A>G;NM_021014.2:c.466+504A>G;NM_175711.1:c.*1+57A>G 466498829 182477475 20101123_snps_12666059_chrX_48208918 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CSHL-HAPMAP 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 17298997 11798425 CSHL-HuAA-200402.chrX.NT_011568.13_4618325 3.84e-01 2004.02.18 2006.10.26 2004.02.28 2012.11.28 137 AFFY 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 74849069 11798425 SNP_M-608286 3.84e-01 2007.08.09 2007.08.09 2004.02.28 2012.11.28 137 HGSV 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 78421211 11798425 Cor12878_SNV_20070510.chrX_47965189 3.84e-01 2007.10.19 2007.10.19 2004.02.28 2012.11.28 137 BCMHGSC_JDW 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 94280771 11798425 JWB-2678412 3.84e-01 2008.03.06 2008.03.06 2004.02.28 2012.11.28 137 BGI 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 105731320 11798425 BGI_rs11798425 3.84e-01 2008.09.11 2009.06.19 2004.02.28 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 112881690 11798425 CEU.trio.12.15.2008_3866393_chrX_48093879 3.84e-01 2008.12.18 2008.12.18 2004.02.28 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 144212598 11798425 ENSSNP3136309 3.84e-01 2009.06.06 2009.10.20 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 163108749 11798425 NA07022_36_chrX_48093879 3.84e-01 2009.09.29 2009.09.29 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 166233420 11798425 NA20431_36_chrX_48093879 3.84e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 BUSHMAN 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 204232980 11798425 BUSHMAN-chrX-48093878 3.84e-01 2010.03.10 2010.03.10 2004.02.28 2012.11.28 137 GMI 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 283748296 11798425 GMI_AK_SNP_8068739 3.84e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 294449303 11798425 SNP_3955661_chrX_48093879 3.84e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48208935T>A;NG_012561.1:g.12208A>T;NM_021014.2:c.466+487A>T;NM_175711.1:c.*1+40A>T 341472860 11798425 20100804_snps_224564_chrX_48208935 3.84e-01 2011.03.24 2011.03.24 2004.02.28 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48208995C>A;NG_012561.1:g.12148G>T;NM_021014.2:c.466+427G>T;NM_175711.1:c.494G>T;NP_783642.1:p.Gly165Val 342552837 149282166 ESP2500-chrX-48208995 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 10214 NC_000023.10:g.48209013T>C;NG_012561.1:g.12130A>G;NM_021014.2:c.466+409A>G;NM_175711.1:c.476A>G;NP_783642.1:p.Gln159Arg 342552838 144540598 ESP2500-chrX-48209013 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 10214 NC_000023.10:g.48209013T>C;NG_012561.1:g.12130A>G;NM_021014.2:c.466+409A>G;NM_175711.1:c.476A>G;NP_783642.1:p.Gln159Arg 491576492 144540598 nonsyn_292718_chr_X_48209013 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48209013T>C;NG_012561.1:g.12130A>G;NM_021014.2:c.466+409A>G;NM_175711.1:c.476A>G;NP_783642.1:p.Gln159Arg 491950505 144540598 SNV-chrX-48093957 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 WI_SSAHASNP 10214 NC_000023.10:g.48209080A>T;NG_012561.1:g.12063T>A;NM_021014.2:c.466+342T>A;NM_175711.1:c.467-58T>A 12048694 7887952 chrX.NT_011568.12_11028948 4.94e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209080A>T;NG_012561.1:g.12063T>A;NM_021014.2:c.466+342T>A;NM_175711.1:c.467-58T>A 341472861 7887952 20100804_snps_224565_chrX_48209080 4.94e-02 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 WI_SSAHASNP 10214 NC_000023.10:g.48209085C>T;NG_012561.1:g.12058G>A;NM_021014.2:c.466+337G>A;NM_175711.1:c.467-63G>A 12048915 7888067 chrX.NT_011568.12_11028953 4.94e-02 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209085C>T;NG_012561.1:g.12058G>A;NM_021014.2:c.466+337G>A;NM_175711.1:c.467-63G>A 341472862 7888067 20100804_snps_224566_chrX_48209085 4.94e-02 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48209085C>T;NG_012561.1:g.12058G>A;NM_021014.2:c.466+337G>A;NM_175711.1:c.467-63G>A 491950506 7888067 SNV-chrX-48094029 4.94e-02 2012.03.07 2012.03.13 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209088T>C;NG_012561.1:g.12055A>G;NM_021014.2:c.466+334A>G;NM_175711.1:c.467-66A>G 466498830 187127948 20101123_snps_12666060_chrX_48209088 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48209088T>C;NG_012561.1:g.12055A>G;NM_021014.2:c.466+334A>G;NM_175711.1:c.467-66A>G 491950507 187127948 SNV-chrX-48094032 2.41e-03 2012.03.07 2012.03.13 2011.09.17 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209118A>G;NG_012561.1:g.12025T>C;NM_021014.2:c.466+304T>C;NM_175711.1:c.467-96T>C 466498831 191893485 20101123_snps_12666061_chrX_48209118 4.22e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48209178G>A;NG_012561.1:g.11965C>T;NM_021014.2:c.466+244C>T;NM_175711.1:c.467-156C>T 466498832 185191886 20101123_snps_12666062_chrX_48209178 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48209231delT;NG_012561.1:g.11912delA;NM_021014.2:c.466+191delA;NM_175711.1:c.466+191delA 499989767 200218939 20110316_indels_chrX_48209230_48209230 3.86e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209402C>T;NG_012561.1:g.11741G>A;NM_021014.2:c.466+20G>A;NM_175711.1:c.466+20G>A 489227248 201250738 20110521_exome_286832_chrX_48209402 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48209429C>T;NG_012561.1:g.11714G>A;NM_021014.2:c.459G>A;NM_175711.1:c.459G>A;NP_066294.1:p.Met153Ile;NP_783642.1:p.Met153Ile 342552839 148463135 ESP2500-chrX-48209429 1.21e-03 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48209429C>T;NG_012561.1:g.11714G>A;NM_021014.2:c.459G>A;NM_175711.1:c.459G>A;NP_066294.1:p.Met153Ile;NP_783642.1:p.Met153Ile 482663574 148463135 HumanOmni2.5-4v1_D_kgp22753669-0_B_F_1860480172 1.21e-03 2012.02.01 2012.02.01 2011.05.09 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48209429C>T;NG_012561.1:g.11714G>A;NM_021014.2:c.459G>A;NM_175711.1:c.459G>A;NP_066294.1:p.Met153Ile;NP_783642.1:p.Met153Ile 484380873 148463135 HumanOmni2.5-4v1_B_SNP23-48094373-0_B_F_1649945477 1.21e-03 2012.02.03 2012.02.03 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209429C>T;NG_012561.1:g.11714G>A;NM_021014.2:c.459G>A;NM_175711.1:c.459G>A;NP_066294.1:p.Met153Ile;NP_783642.1:p.Met153Ile 489227250 148463135 20110521_exome_286833_chrX_48209429 1.21e-03 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 10214 NC_000023.10:g.48209429C>T;NG_012561.1:g.11714G>A;NM_021014.2:c.459G>A;NM_175711.1:c.459G>A;NP_066294.1:p.Met153Ile;NP_783642.1:p.Met153Ile 491576493 148463135 nonsyn_292719_chr_X_48209429 1.21e-03 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48209429C>T;NG_012561.1:g.11714G>A;NM_021014.2:c.459G>A;NM_175711.1:c.459G>A;NP_066294.1:p.Met153Ile;NP_783642.1:p.Met153Ile 491950508 148463135 SNV-chrX-48094373 1.21e-03 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209437T>A;NG_012561.1:g.11706A>T;NM_021014.2:c.451A>T;NM_175711.1:c.451A>T;NP_066294.1:p.Ile151Phe;NP_783642.1:p.Ile151Phe 489227252 199870397 20110521_exome_286834_chrX_48209437 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48209462C>T;NG_012561.1:g.11681G>A;NM_021014.2:c.426G>A;NM_175711.1:c.426G>A;NP_066294.1:p.Pro142=;NP_783642.1:p.Pro142= 8823784 6651589 NT_011568.12_11029330 7.84e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2003.06.05 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209462C>T;NG_012561.1:g.11681G>A;NM_021014.2:c.426G>A;NM_175711.1:c.426G>A;NP_066294.1:p.Pro142=;NP_783642.1:p.Pro142= 341472864 6651589 20100804_snps_224568_chrX_48209462 7.84e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48209462C>T;NG_012561.1:g.11681G>A;NM_021014.2:c.426G>A;NM_175711.1:c.426G>A;NP_066294.1:p.Pro142=;NP_783642.1:p.Pro142= 342552840 6651589 ESP2500-chrX-48209462 7.84e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2011.03.27 2011.03.27 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209462C>T;NG_012561.1:g.11681G>A;NM_021014.2:c.426G>A;NM_175711.1:c.426G>A;NP_066294.1:p.Pro142=;NP_783642.1:p.Pro142= 491200202 6651589 20110521_exome_708000_chrX_48209462 7.84e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2012.02.22 2012.02.22 2003.07.11 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48209462C>T;NG_012561.1:g.11681G>A;NM_021014.2:c.426G>A;NM_175711.1:c.426G>A;NP_066294.1:p.Pro142=;NP_783642.1:p.Pro142= 491950509 6651589 SNV-chrX-48094406 7.84e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2012.03.07 2012.03.13 2003.07.11 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48209525A>G;NG_012561.1:g.11618T>C;NM_021014.2:c.363T>C;NM_175711.1:c.363T>C;NP_066294.1:p.Asn121=;NP_783642.1:p.Asn121= 342552841 147207905 ESP2500-chrX-48209525 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48209593G>T;NG_012561.1:g.11550C>A;NM_021014.2:c.331-36C>A;NM_175711.1:c.331-36C>A 466498833 188458025 20101123_snps_12666063_chrX_48209593 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 10214 NC_000023.10:g.48209597C>T;NG_012561.1:g.11546G>A;NM_021014.2:c.331-40G>A;NM_175711.1:c.331-40G>A 8238649 5953225 NT_011568.10_4723589 1.15e-02 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48209597C>T;NG_012561.1:g.11546G>A;NM_021014.2:c.331-40G>A;NM_175711.1:c.331-40G>A 75073797 5953225 ILMN_Human_1M_rs5953225 1.15e-02 2007.08.29 2007.08.29 2003.04.21 2012.11.28 137 KRIBB_YJKIM 10214 NC_000023.10:g.48209597C>T;NG_012561.1:g.11546G>A;NM_021014.2:c.331-40G>A;NM_175711.1:c.331-40G>A 119501678 5953225 KHS1663925 1.15e-02 2009.02.04 2009.02.04 2003.04.21 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48209597C>T;NG_012561.1:g.11546G>A;NM_021014.2:c.331-40G>A;NM_175711.1:c.331-40G>A 173947860 5953225 Human1M-Duov3_B_rs5953225-127_B_F_1514047552 1.15e-02 2009.10.04 2009.10.04 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209597C>T;NG_012561.1:g.11546G>A;NM_021014.2:c.331-40G>A;NM_175711.1:c.331-40G>A 341472865 5953225 20100804_snps_224569_chrX_48209597 1.15e-02 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209597C>T;NG_012561.1:g.11546G>A;NM_021014.2:c.331-40G>A;NM_175711.1:c.331-40G>A 491200203 5953225 20110521_exome_708001_chrX_48209597 1.15e-02 2012.02.22 2012.02.22 2003.04.21 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48209597C>T;NG_012561.1:g.11546G>A;NM_021014.2:c.331-40G>A;NM_175711.1:c.331-40G>A 491950510 5953225 SNV-chrX-48094541 1.15e-02 2012.03.07 2012.03.13 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48209653A>G;NG_012561.1:g.11490T>C;NM_021014.2:c.331-96T>C;NM_175711.1:c.331-96T>C 341472866 146042680 20100804_snps_224570_chrX_48209653 5.00e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48209755A>G;NG_012561.1:g.11388T>C;NM_021014.2:c.331-198T>C;NM_175711.1:c.331-198T>C 466498834 193219427 20101123_snps_12666064_chrX_48209755 5.42e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48209785T>A;NG_012561.1:g.11358A>T;NM_021014.2:c.331-228A>T;NM_175711.1:c.331-228A>T 466498835 185587916 20101123_snps_12666065_chrX_48209785 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48209792C>G;NG_012561.1:g.11351G>C;NM_021014.2:c.331-235G>C;NM_175711.1:c.331-235G>C 466498836 189260804 20101123_snps_12666066_chrX_48209792 4.70e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48209935T>C;NG_012561.1:g.11208A>G;NM_021014.2:c.331-378A>G;NM_175711.1:c.331-378A>G 466498837 180818728 20101123_snps_12666067_chrX_48209935 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48209945C>T;NG_012561.1:g.11198G>A;NM_021014.2:c.331-388G>A;NM_175711.1:c.331-388G>A 164888024 113606582 NA19240_36_chrX_48094889 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 WI_SSAHASNP 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 6663460 4824707 NT_011568.10_4724097 4.85e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 8237745 4824707 NT_011568.10_4724097 4.85e-01 2003.04.17 2008.03.31 2003.02.20 2012.11.28 137 AFFY 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 76820740 4824707 AFFY_6_1M_SNP_A-8682400 4.85e-01 2007.08.30 2007.08.30 2003.02.20 2012.11.28 137 HGSV 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 78465584 4824707 Cor18507_SNV_20070510.chrX_47966359 4.85e-01 2007.10.19 2007.10.19 2003.02.20 2012.11.28 137 KRIBB_YJKIM 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 104905927 4824707 KHS1298250 4.85e-01 2008.07.10 2008.07.10 2003.02.20 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 114694302 4824707 NA19240_2008_12_16_3504761_chrX_48095049 4.85e-01 2008.12.18 2008.12.18 2003.02.20 2012.11.28 137 ILLUMINA-UK 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 115613479 4824707 NA18507_000030884_NCBI36.1_chrX_48095049 4.85e-01 2009.01.15 2009.01.15 2003.02.20 2012.11.28 137 GMI 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 157467489 4824707 GMI_SNP_239205526 4.85e-01 2009.06.25 2009.06.25 2003.02.20 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 208884667 4824707 BCM_CMT_1011-3340102 4.85e-01 2010.03.20 2010.03.20 2003.02.20 2012.11.28 137 BL 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 255993724 4824707 SNP18031_X_48095049 4.85e-01 2010.08.20 2010.08.20 2003.02.20 2012.11.28 137 GMI 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 283748297 4824707 GMI_AK_SNP_8068740 4.85e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 294449304 4824707 SNP_3955662_chrX_48095049 4.85e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48210105G>A;NG_012561.1:g.11038C>T;NM_021014.2:c.331-548C>T;NM_175711.1:c.331-548C>T 341472867 4824707 20100804_snps_224571_chrX_48210105 4.85e-01 2011.03.24 2011.03.24 2003.02.20 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48210115T>C;NG_012561.1:g.11028A>G;NM_021014.2:c.331-558A>G;NM_175711.1:c.331-558A>G 466498838 183757815 20101123_snps_12666068_chrX_48210115 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48210132T>G;NG_012561.1:g.11011A>C;NM_021014.2:c.331-575A>C;NM_175711.1:c.331-575A>C 341472868 149326003 20100804_snps_224572_chrX_48210132 1.57e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 ABI 10214 NC_000023.10:g.48210151_48210152insT;NG_012561.1:g.10991_10992insA;NM_021014.2:c.331-595_331-594insA;NM_175711.1:c.331-595_331-594insA 43737480 35820117 hCV33612992 Variation due to paralogous sequence differences (PMID: 21030649). 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48210163T>C;NG_012561.1:g.10980A>G;NM_021014.2:c.331-606A>G;NM_175711.1:c.331-606A>G 341472869 144425147 20100804_snps_224573_chrX_48210163 2.41e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 SC_SNP 10214 NC_000023.10:g.48210214T>C;NG_012561.1:g.10929A>G;NM_021014.2:c.331-657A>G;NM_175711.1:c.331-657A>G 8238650 5953226 NT_011568.10_4724206 2.92e-01 2003.04.17 2003.10.10 2003.04.21 2012.11.28 137 ILLUMINA-UK 10214 NC_000023.10:g.48210214T>C;NG_012561.1:g.10929A>G;NM_021014.2:c.331-657A>G;NM_175711.1:c.331-657A>G 115613480 5953226 NA18507_000030885_NCBI36.1_chrX_48095158 2.92e-01 2009.01.15 2009.01.15 2003.04.21 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48210214T>C;NG_012561.1:g.10929A>G;NM_021014.2:c.331-657A>G;NM_175711.1:c.331-657A>G 208906361 5953226 BCM_CMT_1011-3361796 2.92e-01 2010.03.20 2010.03.20 2003.04.21 2012.11.28 137 BL 10214 NC_000023.10:g.48210214T>C;NG_012561.1:g.10929A>G;NM_021014.2:c.331-657A>G;NM_175711.1:c.331-657A>G 255993729 5953226 SNP18032_X_48095158 2.92e-01 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48210214T>C;NG_012561.1:g.10929A>G;NM_021014.2:c.331-657A>G;NM_175711.1:c.331-657A>G 283748298 5953226 GMI_AK_SNP_8068741 2.92e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 10214 NC_000023.10:g.48210214T>C;NG_012561.1:g.10929A>G;NM_021014.2:c.331-657A>G;NM_175711.1:c.331-657A>G 294449305 5953226 SNP_3955663_chrX_48095158 2.92e-01 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48210214T>C;NG_012561.1:g.10929A>G;NM_021014.2:c.331-657A>G;NM_175711.1:c.331-657A>G 341472870 5953226 20100804_snps_224574_chrX_48210214 2.92e-01 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48210223T>G;NG_012561.1:g.10920A>C;NM_021014.2:c.331-666A>C;NM_175711.1:c.331-666A>C 144586505 76442120 ENSSNP13830565 2009.06.07 2009.06.07 2009.12.01 2011.09.09 137 ENSEMBL 10214 NC_000023.10:g.48210224T>G;NG_012561.1:g.10919A>C;NM_021014.2:c.331-667A>C;NM_175711.1:c.331-667A>C 144586511 78811379 ENSSNP13830566 2009.06.07 2009.06.07 2009.12.01 2011.09.09 137 ENSEMBL 10214 NC_000023.10:g.48210225G>T;NG_012561.1:g.10918C>A;NM_021014.2:c.331-668C>A;NM_175711.1:c.331-668C>A 144586517 76027149 ENSSNP13830567 2009.06.07 2009.06.07 2009.12.01 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48210349G>A;NG_012561.1:g.10794C>T;NM_021014.2:c.331-792C>T;NM_175711.1:c.331-792C>T 341472871 141645796 20100804_snps_224575_chrX_48210349 6.03e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48210395G>A;NG_012561.1:g.10748C>T;NM_021014.2:c.331-838C>T;NM_175711.1:c.331-838C>T 341472872 145965394 20100804_snps_224576_chrX_48210395 9.64e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48210495C>T;NG_012561.1:g.10648G>A;NM_021014.2:c.331-938G>A;NM_175711.1:c.331-938G>A 341472873 139887010 20100804_snps_224577_chrX_48210495 1.99e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48210496G>A;NG_012561.1:g.10647C>T;NM_021014.2:c.331-939C>T;NM_175711.1:c.331-939C>T 466498839 188475911 20101123_snps_12666069_chrX_48210496 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48210563T>C;NG_012561.1:g.10580A>G;NM_021014.2:c.330+972A>G;NM_175711.1:c.330+972A>G 466498840 181272246 20101123_snps_12666070_chrX_48210563 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48210771T>G;NG_012561.1:g.10372A>C;NM_021014.2:c.330+764A>C;NM_175711.1:c.330+764A>C 466498841 186842388 20101123_snps_12666071_chrX_48210771 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48210782A>G;NG_012561.1:g.10361T>C;NM_021014.2:c.330+753T>C;NM_175711.1:c.330+753T>C 466498842 191628840 20101123_snps_12666072_chrX_48210782 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48210785C>T;NG_012561.1:g.10358G>A;NM_021014.2:c.330+750G>A;NM_175711.1:c.330+750G>A 466498843 182217003 20101123_snps_12666073_chrX_48210785 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48210795G>A;NG_012561.1:g.10348C>T;NM_021014.2:c.330+740C>T;NM_175711.1:c.330+740C>T 466498844 187171897 20101123_snps_12666074_chrX_48210795 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 10214 NC_000023.10:g.48210846C>T;NG_012561.1:g.10297G>A;NM_021014.2:c.330+689G>A;NM_175711.1:c.330+689G>A 283748299 191198394 GMI_AK_SNP_8068742 5.42e-03 2010.12.16 2010.12.16 2011.09.17 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48210846C>T;NG_012561.1:g.10297G>A;NM_021014.2:c.330+689G>A;NM_175711.1:c.330+689G>A 466498845 191198394 20101123_snps_12666075_chrX_48210846 5.42e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211193_48211194delAG;NG_012561.1:g.9949_9950delCT;NM_021014.2:c.330+341_330+342delCT;NM_175711.1:c.330+341_330+342delCT 499989771 201546050 20110316_indels_chrX_48211192_48211193 1.63e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211262G>A;NG_012561.1:g.9881C>T;NM_021014.2:c.330+273C>T;NM_175711.1:c.330+273C>T 466498846 182241923 20101123_snps_12666076_chrX_48211262 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48211441T>C;NG_012561.1:g.9702A>G;NM_021014.2:c.330+94A>G;NM_175711.1:c.330+94A>G 341472875 146365831 20100804_snps_224579_chrX_48211441 2.41e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48211481G>C;NG_012561.1:g.9662C>G;NM_021014.2:c.330+54C>G;NM_175711.1:c.330+54C>G 466498847 186907057 20101123_snps_12666077_chrX_48211481 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48211495A>C;NG_012561.1:g.9648T>G;NM_021014.2:c.330+40T>G;NM_175711.1:c.330+40T>G 341472876 139389871 20100804_snps_224580_chrX_48211495 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211495A>C;NG_012561.1:g.9648T>G;NM_021014.2:c.330+40T>G;NM_175711.1:c.330+40T>G 491200204 139389871 20110521_exome_708002_chrX_48211495 4.94e-02 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211542A>T;NG_012561.1:g.9601T>A;NM_021014.2:c.323T>A;NM_175711.1:c.323T>A;NP_066294.1:p.Phe108Tyr;NP_783642.1:p.Phe108Tyr 466498848 190126592 20101123_snps_12666078_chrX_48211542 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 NHLBI-ESP 10214 NC_000023.10:g.48211564A>G;NG_012561.1:g.9579T>C;NM_021014.2:c.301T>C;NM_175711.1:c.301T>C;NP_066294.1:p.Phe101Leu;NP_783642.1:p.Phe101Leu 342552842 140614839 ESP2500-chrX-48211564 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 10214 NC_000023.10:g.48211579G>A;NG_012561.1:g.9564C>T;NM_021014.2:c.286C>T;NM_175711.1:c.286C>T;NP_066294.1:p.Arg96Cys;NP_783642.1:p.Arg96Cys 342552843 144615630 ESP2500-chrX-48211579 6.03e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211579G>A;NG_012561.1:g.9564C>T;NM_021014.2:c.286C>T;NM_175711.1:c.286C>T;NP_066294.1:p.Arg96Cys;NP_783642.1:p.Arg96Cys 489227254 144615630 20110521_exome_286835_chrX_48211579 6.03e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 10214 NC_000023.10:g.48211579G>A;NG_012561.1:g.9564C>T;NM_021014.2:c.286C>T;NM_175711.1:c.286C>T;NP_066294.1:p.Arg96Cys;NP_783642.1:p.Arg96Cys 491576494 144615630 nonsyn_292720_chr_X_48211579 6.03e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48211582G>C;NG_012561.1:g.9561C>G;NM_021014.2:c.283C>G;NM_175711.1:c.283C>G;NP_066294.1:p.Gln95Glu;NP_783642.1:p.Gln95Glu 342552844 151258071 ESP2500-chrX-48211582 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48211691G>T;NG_012561.1:g.9452C>A;NM_021014.2:c.281-107C>A;NM_175711.1:c.281-107C>A 341472877 150067040 20100804_snps_224581_chrX_48211691 6.03e-04 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48211742G>T;NG_012561.1:g.9401C>A;NM_021014.2:c.281-158C>A;NM_175711.1:c.281-158C>A 341472878 145422047 20100804_snps_224582_chrX_48211742 4.82e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 SC_JCM 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 6243273 4606187 NT_011568.9_3181618 1.79e-01 2003.01.12 2003.10.10 2003.02.20 2012.11.28 137 DEVINE_LAB 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 7903252 4606187 DB_1_379620 1.79e-01 2003.03.16 2003.10.10 2003.02.20 2012.11.28 137 BCM_SSAHASNP 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 10549410 4606187 chrX.NT_011568.12_11031662 1.79e-01 2003.06.29 2003.10.10 2003.02.20 2012.11.28 137 WI_SSAHASNP 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 14369985 4606187 chrX.NT_011568.13_4621184 1.79e-01 2003.11.07 2003.11.22 2003.02.20 2012.11.28 137 ABI 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 43922329 4606187 hCV27954337 1.79e-01 2005.07.18 2005.07.18 2003.02.20 2012.11.28 137 GMI 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 283748300 4606187 GMI_AK_SNP_8068743 1.79e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 294449306 4606187 SNP_3955664_chrX_48096738 1.79e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211794T>C;NG_012561.1:g.9349A>G;NM_021014.2:c.281-210A>G;NM_175711.1:c.281-210A>G 341472879 4606187 20100804_snps_224583_chrX_48211794 1.79e-01 2011.03.24 2011.03.24 2003.02.20 2012.11.28 137 TSC-CSHL 10214 NC_000023.10:g.48211834G>C;NG_012561.1:g.9309C>G;NM_021014.2:c.281-250C>G;NM_175711.1:c.281-250C>G 21880 3014654 TSC0001230 4.94e-02 2002.09.21 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 10214 NC_000023.10:g.48211834G>C;NG_012561.1:g.9309C>G;NM_021014.2:c.281-250C>G;NM_175711.1:c.281-250C>G 4241384 3014654 AL606490.2_220950 4.94e-02 2001.10.15 2003.10.10 2001.11.05 2012.11.28 137 SC_JCM 10214 NC_000023.10:g.48211834G>C;NG_012561.1:g.9309C>G;NM_021014.2:c.281-250C>G;NM_175711.1:c.281-250C>G 5682875 3014654 NT_011568.9_3181658 4.94e-02 2003.01.10 2003.10.10 2001.11.05 2012.11.28 137 ABI 10214 NC_000023.10:g.48211834G>C;NG_012561.1:g.9309C>G;NM_021014.2:c.281-250C>G;NM_175711.1:c.281-250C>G 43743825 3014654 hCV26687828 4.94e-02 2005.07.18 2005.07.18 2001.11.05 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211834G>C;NG_012561.1:g.9309C>G;NM_021014.2:c.281-250C>G;NM_175711.1:c.281-250C>G 341472880 3014654 20100804_snps_224584_chrX_48211834 4.94e-02 2011.03.24 2011.03.24 2001.11.05 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48211953A>G;NG_012561.1:g.9190T>C;NM_021014.2:c.281-369T>C;NM_175711.1:c.281-369T>C 466498849 183063058 20101123_snps_12666079_chrX_48211953 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 10214 NC_000023.10:g.48211984G>A;NG_012561.1:g.9159C>T;NM_021014.2:c.281-400C>T;NM_175711.1:c.281-400C>T 4241385 3014655 AL606490.2_221100 2001.10.15 2003.10.10 2001.11.05 2011.07.08 137 CSHL-HAPMAP 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 18049739 12014242 CSHL-HuCC-200402.chrX.NT_011568.13_4621416 2.41e-03 2004.02.20 2004.03.04 2004.02.28 2011.09.09 137 ABI 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 43622788 12014242 hCV33612993 2.41e-03 2005.07.18 2005.07.18 2004.02.28 2011.09.09 137 ILLUMINA 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 75286262 12014242 ILMN_Human_1M_rs12014242 2.41e-03 2007.08.29 2007.08.29 2004.02.28 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 114694327 12014242 NA19240_2008_12_16_3504764_chrX_48096970 2.41e-03 2008.12.18 2008.12.18 2004.02.28 2011.09.09 137 KRIBB_YJKIM 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 119741879 12014242 KHS1828891 2.41e-03 2009.02.05 2009.02.05 2004.02.28 2011.09.09 137 ILLUMINA 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 123130133 12014242 HumanCNV370v1_C_rs12014242 2.41e-03 2009.04.15 2009.04.15 2004.02.28 2011.09.09 137 ILLUMINA 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 153113480 12014242 Human610_Quadv1_B_rs12014242-127_T_R_1514242711 2.41e-03 2009.06.18 2009.06.19 2004.02.28 2011.09.09 137 ENSEMBL 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 161795266 12014242 ENSSNP3136311 2.41e-03 2009.09.25 2009.09.25 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 164888041 12014242 NA19240_36_chrX_48096970 2.41e-03 2009.09.30 2009.09.30 2004.02.28 2011.09.09 137 ILLUMINA 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 170024007 12014242 HumanCNV370-Quadv3_C_rs12014242-127_T_R_1514242711 2.41e-03 2009.10.01 2009.10.03 2004.02.28 2011.09.09 137 ILLUMINA 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 171792744 12014242 Human1M-Duov3_B_rs12014242-127_T_R_1514242711 2.41e-03 2009.10.01 2009.10.01 2004.02.28 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48212026C>T;NG_012561.1:g.9117G>A;NM_021014.2:c.281-442G>A;NM_175711.1:c.281-442G>A 341472881 12014242 20100804_snps_224585_chrX_48212026 2.41e-03 2011.03.24 2011.03.24 2004.02.28 2011.09.09 137 TSC-CSHL 10214 NC_000023.10:g.48212049G>A;NG_012561.1:g.9094C>T;NM_021014.2:c.281-465C>T;NM_175711.1:c.281-465C>T 21881 3884650 TSC0001231 4.94e-02 2002.09.21 2003.10.10 2002.10.10 2011.09.09 137 SC_JCM 10214 NC_000023.10:g.48212049G>A;NG_012561.1:g.9094C>T;NM_021014.2:c.281-465C>T;NM_175711.1:c.281-465C>T 5867201 3884650 NT_011568.9_3181873 4.94e-02 2003.01.11 2003.10.10 2002.10.10 2011.09.09 137 PERLEGEN 10214 NC_000023.10:g.48212049G>A;NG_012561.1:g.9094C>T;NM_021014.2:c.281-465C>T;NM_175711.1:c.281-465C>T 23825530 3884650 afd4376753 4.94e-02 2004.08.20 2004.09.13 2002.10.10 2011.09.09 137 ABI 10214 NC_000023.10:g.48212049G>A;NG_012561.1:g.9094C>T;NM_021014.2:c.281-465C>T;NM_175711.1:c.281-465C>T 43696049 3884650 hCV27452112 4.94e-02 2005.07.18 2005.07.18 2002.10.10 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48212049G>A;NG_012561.1:g.9094C>T;NM_021014.2:c.281-465C>T;NM_175711.1:c.281-465C>T 341472882 3884650 20100804_snps_224586_chrX_48212049 4.94e-02 2011.03.24 2011.03.24 2002.10.10 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48212073G>A;NG_012561.1:g.9070C>T;NM_021014.2:c.281-489C>T;NM_175711.1:c.281-489C>T 466498850 188499535 20101123_snps_12666080_chrX_48212073 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48212112T>C;NG_012561.1:g.9031A>G;NM_021014.2:c.281-528A>G;NM_175711.1:c.281-528A>G 466498851 192904179 20101123_snps_12666081_chrX_48212112 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48212139G>A;NG_012561.1:g.9004C>T;NM_021014.2:c.281-555C>T;NM_175711.1:c.281-555C>T 466498852 183837904 20101123_snps_12666082_chrX_48212139 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48212226T>C;NG_012561.1:g.8917A>G;NM_021014.2:c.281-642A>G;NM_175711.1:c.281-642A>G 341472883 145912284 20100804_snps_224587_chrX_48212226 9.64e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48212581A>G;NG_012561.1:g.8562T>C;NM_021014.2:c.280+853T>C;NM_175711.1:c.280+853T>C 466498853 187720301 20101123_snps_12666083_chrX_48212581 4.94e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48212605C>A;NG_012561.1:g.8538G>T;NM_021014.2:c.280+829G>T;NM_175711.1:c.280+829G>T 341472884 148250356 20100804_snps_224588_chrX_48212605 5.42e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48212688T>C;NG_012561.1:g.8455A>G;NM_021014.2:c.280+746A>G;NM_175711.1:c.280+746A>G 466498854 192636290 20101123_snps_12666084_chrX_48212688 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48212776A>G;NG_012561.1:g.8367T>C;NM_021014.2:c.280+658T>C;NM_175711.1:c.280+658T>C 466498855 183531431 20101123_snps_12666085_chrX_48212776 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48212836A>G;NG_012561.1:g.8307T>C;NM_021014.2:c.280+598T>C;NM_175711.1:c.280+598T>C 466498856 188224611 20101123_snps_12666086_chrX_48212836 4.88e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 10214 NC_000023.10:g.48213029C>T;NG_012561.1:g.8114G>A;NM_021014.2:c.280+405G>A;NM_175711.1:c.280+405G>A 4371579 3125216 AL606490.13_87692 2002.02.19 2003.10.10 2002.03.26 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48213139T>G;NG_012561.1:g.8004A>C;NM_021014.2:c.280+295A>C;NM_175711.1:c.280+295A>C 466498857 191524661 20101123_snps_12666087_chrX_48213139 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_JCM 10214 NC_000023.10:g.48213173G>A;NG_012561.1:g.7970C>T;NM_021014.2:c.280+261C>T;NM_175711.1:c.280+261C>T 4371580 3125217 AL606490.13_87836 2002.02.19 2003.10.10 2002.03.26 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48213183T>G;NG_012561.1:g.7960A>C;NM_021014.2:c.280+251A>C;NM_175711.1:c.280+251A>C 466498858 184793171 20101123_snps_12666088_chrX_48213183 7.23e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48213250C>G;NG_012561.1:g.7893G>C;NM_021014.2:c.280+184G>C;NM_175711.1:c.280+184G>C 341472885 140373936 20100804_snps_224589_chrX_48213250 7.84e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48213281A>G;NG_012561.1:g.7862T>C;NM_021014.2:c.280+153T>C;NM_175711.1:c.280+153T>C 164888049 113398904 NA19240_36_chrX_48098225 2009.09.30 2009.09.30 2010.07.04 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48213324T>A;NG_012561.1:g.7819A>T;NM_021014.2:c.280+110A>T;NM_175711.1:c.280+110A>T 466498859 190033660 20101123_snps_12666089_chrX_48213324 7.84e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48213485T>C;NG_012561.1:g.7658A>G;NM_021014.2:c.229A>G;NM_175711.1:c.229A>G;NP_066294.1:p.Thr77Ala;NP_783642.1:p.Thr77Ala 341472886 150370741 20100804_snps_224590_chrX_48213485 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48213485T>C;NG_012561.1:g.7658A>G;NM_021014.2:c.229A>G;NM_175711.1:c.229A>G;NP_066294.1:p.Thr77Ala;NP_783642.1:p.Thr77Ala 342552845 150370741 ESP2500-chrX-48213485 4.94e-02 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 EXOME_CHIP 10214 NC_000023.10:g.48213485T>C;NG_012561.1:g.7658A>G;NM_021014.2:c.229A>G;NM_175711.1:c.229A>G;NP_066294.1:p.Thr77Ala;NP_783642.1:p.Thr77Ala 491576495 150370741 nonsyn_292721_chr_X_48213485 4.94e-02 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48213485T>C;NG_012561.1:g.7658A>G;NM_021014.2:c.229A>G;NM_175711.1:c.229A>G;NP_066294.1:p.Thr77Ala;NP_783642.1:p.Thr77Ala 491950511 150370741 SNV-chrX-48098429 4.94e-02 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48213491G>A;NG_012561.1:g.7652C>T;NM_021014.2:c.223C>T;NM_175711.1:c.223C>T;NP_066294.1:p.Arg75Trp;NP_783642.1:p.Arg75Trp 342552846 150016606 ESP2500-chrX-48213491 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48213547G>A;NG_012561.1:g.7596C>T;NM_021014.2:c.185-18C>T;NM_175711.1:c.185-18C>T 341472887 138106114 20100804_snps_224591_chrX_48213547 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 HGSV 10214 NC_000023.10:g.48213581C>T;NG_012561.1:g.7562G>A;NM_021014.2:c.185-52G>A;NM_175711.1:c.185-52G>A 85782595 59783839 Cor18517_SNV_20070510.chrX_47969835 9.04e-03 2007.12.10 2007.12.10 2007.12.15 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48213581C>T;NG_012561.1:g.7562G>A;NM_021014.2:c.185-52G>A;NM_175711.1:c.185-52G>A 341472888 59783839 20100804_snps_224592_chrX_48213581 9.04e-03 2011.03.24 2011.03.24 2007.12.15 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48213610T>C;NG_012561.1:g.7533A>G;NM_021014.2:c.185-81A>G;NM_175711.1:c.185-81A>G 466498860 181697277 20101123_snps_12666090_chrX_48213610 1.81e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48213699A>G;NG_012561.1:g.7444T>C;NM_021014.2:c.185-170T>C;NM_175711.1:c.185-170T>C 466498861 187116746 20101123_snps_12666091_chrX_48213699 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 10214 NC_000023.10:g.48213817T>C;NG_012561.1:g.7326A>G;NM_021014.2:c.184+250A>G;NM_175711.1:c.184+250A>G 283748301 145954446 GMI_AK_SNP_8068744 9.64e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48213817T>C;NG_012561.1:g.7326A>G;NM_021014.2:c.184+250A>G;NM_175711.1:c.184+250A>G 341472889 145954446 20100804_snps_224593_chrX_48213817 9.64e-03 2011.03.24 2011.03.24 2011.05.09 2012.11.28 137 TSC-CSHL 10214 NC_000023.10:g.48213911G>C;NG_012561.1:g.7232C>G;NM_021014.2:c.184+156C>G;NM_175711.1:c.184+156C>G 96149 3889065 TSC0123605 1.74e-01 2002.09.21 2003.10.10 2002.10.10 2012.11.28 137 SC_JCM 10214 NC_000023.10:g.48213911G>C;NG_012561.1:g.7232C>G;NM_021014.2:c.184+156C>G;NM_175711.1:c.184+156C>G 6259502 3889065 NT_011568.9_3183735 1.74e-01 2003.01.13 2003.10.10 2002.10.10 2012.11.28 137 WI_SSAHASNP 10214 NC_000023.10:g.48213911G>C;NG_012561.1:g.7232C>G;NM_021014.2:c.184+156C>G;NM_175711.1:c.184+156C>G 14369048 3889065 chrX.NT_011568.13_4623301 1.74e-01 2003.11.07 2003.11.22 2002.10.10 2012.11.28 137 PERLEGEN 10214 NC_000023.10:g.48213911G>C;NG_012561.1:g.7232C>G;NM_021014.2:c.184+156C>G;NM_175711.1:c.184+156C>G 24230888 3889065 afd4196602 1.74e-01 2004.08.21 2004.09.13 2002.10.10 2012.11.28 137 ABI 10214 NC_000023.10:g.48213911G>C;NG_012561.1:g.7232C>G;NM_021014.2:c.184+156C>G;NM_175711.1:c.184+156C>G 43706088 3889065 hCV2245 1.74e-01 2005.07.18 2005.07.18 2002.10.10 2012.11.28 137 GMI 10214 NC_000023.10:g.48213911G>C;NG_012561.1:g.7232C>G;NM_021014.2:c.184+156C>G;NM_175711.1:c.184+156C>G 283748302 3889065 GMI_AK_SNP_8068745 1.74e-01 2010.12.16 2010.12.16 2002.10.10 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48213911G>C;NG_012561.1:g.7232C>G;NM_021014.2:c.184+156C>G;NM_175711.1:c.184+156C>G 341472890 3889065 20100804_snps_224594_chrX_48213911 1.74e-01 2011.03.24 2011.03.24 2002.10.10 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48213950T>A;NG_012561.1:g.7193A>T;NM_021014.2:c.184+117A>T;NM_175711.1:c.184+117A>T 466498862 189386834 20101123_snps_12666092_chrX_48213950 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48214034C>T;NG_012561.1:g.7109G>A;NM_021014.2:c.184+33G>A;NM_175711.1:c.184+33G>A 466498863 181983996 20101123_snps_12666093_chrX_48214034 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48214036A>G;NG_012561.1:g.7107T>C;NM_021014.2:c.184+31T>C;NM_175711.1:c.184+31T>C 341472891 141651148 20100804_snps_224595_chrX_48214036 4.88e-02 2011.03.24 2011.03.24 2011.05.09 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48214036A>G;NG_012561.1:g.7107T>C;NM_021014.2:c.184+31T>C;NM_175711.1:c.184+31T>C 491200205 141651148 20110521_exome_708003_chrX_48214036 4.88e-02 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48214036A>G;NG_012561.1:g.7107T>C;NM_021014.2:c.184+31T>C;NM_175711.1:c.184+31T>C 491950512 141651148 SNV-chrX-48098980 4.88e-02 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 CLINSEQ_SNP 10214 NC_000023.10:g.48214037G>C;NG_012561.1:g.7106C>G;NM_021014.2:c.184+30C>G;NM_175711.1:c.184+30C>G 491950513 200493201 SNV-chrX-48098981 2012.03.07 2012.03.13 2012.05.04 2012.05.04 137 NHLBI-ESP 10214 NC_000023.10:g.48214069A>G;NG_012561.1:g.7074T>C;NM_021014.2:c.182T>C;NM_175711.1:c.182T>C;NP_066294.1:p.Leu61Pro;NP_783642.1:p.Leu61Pro 342552847 145259747 ESP2500-chrX-48214069 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 10214 NC_000023.10:g.48214113G>A;NG_012561.1:g.7030C>T;NM_021014.2:c.138C>T;NM_175711.1:c.138C>T;NP_066294.1:p.Ile46=;NP_783642.1:p.Ile46= 342552848 141333343 ESP2500-chrX-48214113 0 2011.03.27 2011.03.27 2011.05.09 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48214113G>A;NG_012561.1:g.7030C>T;NM_021014.2:c.138C>T;NM_175711.1:c.138C>T;NP_066294.1:p.Ile46=;NP_783642.1:p.Ile46= 466498864 141333343 20101123_snps_12666094_chrX_48214113 0 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 BUSHMAN 10214 NC_000023.10:g.48214129T>C;NG_012561.1:g.7014A>G;NM_021014.2:c.122A>G;NM_175711.1:c.122A>G;NP_066294.1:p.Lys41Arg;NP_783642.1:p.Lys41Arg 204232982 113403735 BUSHMAN-chrX-48099072 2010.03.10 2010.03.10 2010.07.04 2011.09.09 137 CLINSEQ_SNP 10214 NC_000023.10:g.48214199A>G;NG_012561.1:g.6944T>C;NM_021014.2:c.70-18T>C;NM_175711.1:c.70-18T>C 491950514 201462529 SNV-chrX-48099143 2012.03.07 2012.03.13 2012.05.04 2012.05.04 137 1000GENOMES 10214 NC_000023.10:g.48214199_48214200insT;NG_012561.1:g.6943_6944insA;NM_021014.2:c.70-19_70-18insA;NM_175711.1:c.70-19_70-18insA 499989775 199781744 20110316_indels_chrX_48214199_48214200 4.94e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48214520C>T;NG_012561.1:g.6623G>A;NM_021014.2:c.69+96G>A;NM_175711.1:c.69+96G>A 341472892 146352708 20100804_snps_224596_chrX_48214520 3.01e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 SSAHASNP 10214 NC_000023.10:g.48214554G>A;NG_012561.1:g.6589C>T;NM_021014.2:c.69+62C>T;NM_175711.1:c.69+62C>T 21003393 12841716 WGSA-200403-chrX.chrX.NT_011568.13_4623944 2004.03.19 2004.03.19 2004.04.05 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48214604A>G;NG_012561.1:g.6539T>C;NM_021014.2:c.69+12T>C;NM_175711.1:c.69+12T>C 489227256 200875369 20110521_exome_286836_chrX_48214604 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48214615C>A;NG_012561.1:g.6528G>T;NM_021014.2:c.69+1G>T;NM_175711.1:c.69+1G>T 489227258 199500081 20110521_exome_286837_chrX_48214615 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 NHLBI-ESP 10214 NC_000023.10:g.48214641G>C;NG_012561.1:g.6502C>G;NM_021014.2:c.44C>G;NM_175711.1:c.44C>G;NP_066294.1:p.Ala15Gly;NP_783642.1:p.Ala15Gly 342552849 145114906 ESP2500-chrX-48214641 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 10214 NC_000023.10:g.48214652G>C;NG_012561.1:g.6491C>G;NM_021014.2:c.33C>G;NM_175711.1:c.33C>G;NP_066294.1:p.Pro11=;NP_783642.1:p.Pro11= 342552850 138992292 ESP2500-chrX-48214652 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48214678C>T;NG_012561.1:g.6465G>A;NM_021014.2:c.7G>A;NM_175711.1:c.7G>A;NP_066294.1:p.Gly3Arg;NP_783642.1:p.Gly3Arg 489227260 201833765 20110521_exome_286838_chrX_48214678 2.41e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 EXOME_CHIP 10214 NC_000023.10:g.48214678C>T;NG_012561.1:g.6465G>A;NM_021014.2:c.7G>A;NM_175711.1:c.7G>A;NP_066294.1:p.Gly3Arg;NP_783642.1:p.Gly3Arg 491576496 201833765 nonsyn_292722_chr_X_48214678 2.41e-03 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48214679G>A;NG_012561.1:g.6464C>T;NM_021014.2:c.6C>T;NM_175711.1:c.6C>T;NP_066294.1:p.Asn2=;NP_783642.1:p.Asn2= 489227262 200969993 20110521_exome_286839_chrX_48214679 6.03e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48214801A>T;NG_012561.1:g.6342T>A;NM_021014.2:c.-20-97T>A;NM_175711.1:c.-20-97T>A 208927373 113583802 BCM_CMT_1011-3382808 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48214954G>A;NG_012561.1:g.6189C>T;NM_021014.2:c.-20-250C>T;NM_175711.1:c.-20-250C>T 341472893 148553901 20100804_snps_224597_chrX_48214954 9.04e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48214985G>C;NG_012561.1:g.6158C>G;NM_021014.2:c.-20-281C>G;NM_175711.1:c.-20-281C>G 341472894 142940107 20100804_snps_224598_chrX_48214985 2.41e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 DEVINE_LAB 10214 NC_000023.10:g.48215015delA;NG_012561.1:g.6128delT;NM_021014.2:c.-20-311delT;NM_175711.1:c.-20-311delT 15201515 11323384 INDEL_GP34_WGS_317324 9.64e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215015delA;NG_012561.1:g.6128delT;NM_021014.2:c.-20-311delT;NM_175711.1:c.-20-311delT 499989779 11323384 20110316_indels_chrX_48215014_48215014 9.64e-03 Variation due to paralogous sequence differences (PMID: 21030649). 2012.03.20 2012.03.20 2004.02.28 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215133G>A;NG_012561.1:g.6010C>T;NM_021014.2:c.-20-429C>T;NM_175711.1:c.-20-429C>T 341472895 150689745 20100804_snps_224599_chrX_48215133 1.21e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 SC_SNP 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 8178226 5906649 NT_011568.10_4729179 2.91e-01 2003.04.16 2006.10.25 2003.04.21 2012.11.28 137 AFFY 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 76657324 5906649 AFFY_6_1M_SNP_A-8518772 2.91e-01 2007.08.30 2007.08.30 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 81241578 5906649 Cor18507_SNV_20070510.chrX_47971441 2.91e-01 2007.11.28 2007.11.28 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 84497098 5906649 Cor19129_SNV_20070510.chrX_47971441 2.91e-01 2007.12.07 2007.12.07 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 114694334 5906649 NA19240_2008_12_16_3504765_chrX_48100131 2.91e-01 2008.12.18 2008.12.18 2003.04.21 2012.11.28 137 ILLUMINA-UK 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 115613481 5906649 NA18507_000030886_NCBI36.1_chrX_48100131 2.91e-01 2009.01.15 2009.01.15 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 164888067 5906649 NA19240_36_chrX_48100131 2.91e-01 2009.09.30 2009.09.30 2003.04.21 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 208868936 5906649 BCM_CMT_1011-3324371 2.91e-01 2010.03.20 2010.03.20 2003.04.21 2012.11.28 137 BL 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 255993738 5906649 SNP18033_X_48100131 2.91e-01 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 283748303 5906649 GMI_AK_SNP_8068746 2.91e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215187T>G;NG_012561.1:g.5956A>C;NM_021014.2:c.-20-483A>C;NM_175711.1:c.-20-483A>C 341472896 5906649 20100804_snps_224600_chrX_48215187 2.91e-01 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215249C>T;NG_012561.1:g.5894G>A;NM_021014.2:c.-20-545G>A;NM_175711.1:c.-20-545G>A 466498865 189881183 20101123_snps_12666095_chrX_48215249 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48215250G>A;NG_012561.1:g.5893C>T;NM_021014.2:c.-20-546C>T;NM_175711.1:c.-20-546C>T 466498866 183074006 20101123_snps_12666096_chrX_48215250 4.94e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48215319T>A;NG_012561.1:g.5824A>T;NM_021014.2:c.-20-615A>T;NM_175711.1:c.-20-615A>T 466498867 186326532 20101123_snps_12666097_chrX_48215319 6.03e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48215378G>T;NG_012561.1:g.5765C>A;NM_021014.2:c.-20-674C>A;NM_175711.1:c.-20-674C>A 341472898 147878880 20100804_snps_224602_chrX_48215378 2.41e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48215396G>C;NG_012561.1:g.5747C>G;NM_021014.2:c.-21+673C>G;NM_175711.1:c.-21+673C>G 466498868 191573260 20101123_snps_12666098_chrX_48215396 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48215517G>C;NG_012561.1:g.5626C>G;NM_021014.2:c.-21+552C>G;NM_175711.1:c.-21+552C>G 341472899 141612845 20100804_snps_224603_chrX_48215517 1.57e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48215554G>C;NG_012561.1:g.5589C>G;NM_021014.2:c.-21+515C>G;NM_175711.1:c.-21+515C>G 466498869 183353275 20101123_snps_12666099_chrX_48215554 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48215770G>A;NG_012561.1:g.5373C>T;NM_021014.2:c.-21+299C>T;NM_175711.1:c.-21+299C>T 341472900 145473130 20100804_snps_224604_chrX_48215770 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 SC_SNP 10214 NC_000023.10:g.48215794C>A;NG_012561.1:g.5349G>T;NM_021014.2:c.-21+275G>T;NM_175711.1:c.-21+275G>T 8178227 5906650 NT_011568.10_4729786 2.89e-01 2003.04.16 2006.10.25 2003.04.21 2012.11.28 137 ILLUMINA-UK 10214 NC_000023.10:g.48215794C>A;NG_012561.1:g.5349G>T;NM_021014.2:c.-21+275G>T;NM_175711.1:c.-21+275G>T 115613482 5906650 NA18507_000030887_NCBI36.1_chrX_48100738 2.89e-01 2009.01.15 2009.01.15 2003.04.21 2012.11.28 137 BL 10214 NC_000023.10:g.48215794C>A;NG_012561.1:g.5349G>T;NM_021014.2:c.-21+275G>T;NM_175711.1:c.-21+275G>T 255993744 5906650 SNP18034_X_48100738 2.89e-01 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48215794C>A;NG_012561.1:g.5349G>T;NM_021014.2:c.-21+275G>T;NM_175711.1:c.-21+275G>T 283748304 5906650 GMI_AK_SNP_8068747 2.89e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215794C>A;NG_012561.1:g.5349G>T;NM_021014.2:c.-21+275G>T;NM_175711.1:c.-21+275G>T 341472901 5906650 20100804_snps_224605_chrX_48215794 2.89e-01 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 8176962 5905683 NT_011568.10_4729939 2.97e-01 2003.04.16 2004.10.30 2003.04.21 2012.11.28 137 PERLEGEN 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 69261729 5905683 PGP10927336 2.97e-01 2007.01.30 2008.03.31 2003.04.21 2012.11.28 137 AFFY 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 76547706 5905683 AFFY_6_1M_SNP_A-8408621 2.97e-01 2007.08.30 2007.08.30 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 84980360 5905683 Cor19240_SNV_20070510.chrX_47972201 2.97e-01 2007.12.08 2007.12.08 2003.04.21 2012.11.28 137 KRIBB_YJKIM 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 104912237 5905683 KHS1304560 2.97e-01 2008.07.10 2008.07.10 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 114694349 5905683 NA19240_2008_12_16_3504767_chrX_48100891 2.97e-01 2008.12.18 2008.12.18 2003.04.21 2012.11.28 137 ILLUMINA-UK 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 115613483 5905683 NA18507_000030888_NCBI36.1_chrX_48100891 2.97e-01 2009.01.15 2009.01.15 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 164888076 5905683 NA19240_36_chrX_48100891 2.97e-01 2009.09.30 2009.09.30 2003.04.21 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 208875007 5905683 BCM_CMT_1011-3330442 2.97e-01 2010.03.20 2010.03.20 2003.04.21 2012.11.28 137 BL 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 255993752 5905683 SNP18035_X_48100891 2.97e-01 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 283748305 5905683 GMI_AK_SNP_8068748 2.97e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 294449307 5905683 SNP_3955665_chrX_48100891 2.97e-01 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48215947C>G;NG_012561.1:g.5196G>C;NM_021014.2:c.-21+122G>C;NM_175711.1:c.-21+122G>C 341472902 5905683 20100804_snps_224606_chrX_48215947 2.97e-01 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 1000GENOMES 10214 ARRAY(0x943265b0) 499989783 201776052 20110316_indels_chrX_48216114_48216114 4.52e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 8178228 5906651 NT_011568.10_4730138 2.01e-01 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 8489258 5906651 NT_011568.12_11036014 2.01e-01 2003.05.23 2003.10.10 2003.04.21 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 18051876 5906651 CSHL-HuCC-200402.chrX.NT_011568.13_4625536 2.01e-01 2004.02.20 2004.03.04 2003.04.21 2012.11.28 137 SSAHASNP 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 21068026 5906651 WGSA-200403-chrX.chrX.NT_011568.13_4625536 2.01e-01 2004.03.19 2004.03.19 2003.04.21 2012.11.28 137 ABI 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 43621226 5906651 hCV26687833 2.01e-01 2005.07.18 2005.07.18 2003.04.21 2012.11.28 137 SI_EXO 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 61715728 5906651 NT_079573.2_11065955 2.01e-01 2006.07.11 2006.08.17 2003.04.21 2012.11.28 137 HGSV 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 82297631 5906651 Cor19240_SNV_20070510.chrX_47972400 2.01e-01 2007.12.02 2007.12.02 2003.04.21 2012.11.28 137 BCMHGSC_JDW 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 94280775 5906651 JWB-2678413 2.01e-01 2008.03.06 2008.03.06 2003.04.21 2012.11.28 137 BGI 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 105731321 5906651 BGI_rs5906651 2.01e-01 2008.09.11 2009.06.19 2003.04.21 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 133967526 5906651 ENSSNP3136314 2.01e-01 2009.05.13 2010.03.07 2003.04.21 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 144586524 5906651 ENSSNP13830568 2.01e-01 2009.06.07 2009.06.07 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 164888093 5906651 NA19240_36_chrX_48101090 2.01e-01 2009.09.30 2009.09.30 2003.04.21 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 166233431 5906651 NA20431_36_chrX_48101090 2.01e-01 2009.09.30 2009.09.30 2003.04.21 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 208915666 5906651 BCM_CMT_1011-3371101 2.01e-01 2010.03.20 2010.03.20 2003.04.21 2012.11.28 137 BL 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 255993757 5906651 SNP18036_X_48101090 2.01e-01 2010.08.20 2010.08.20 2003.04.21 2012.11.28 137 GMI 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 283748306 5906651 GMI_AK_SNP_8068749 2.01e-01 2010.12.16 2010.12.16 2003.04.21 2012.11.28 137 PJP 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 294449308 5906651 SNP_3955666_chrX_48101090 2.01e-01 2011.01.21 2011.01.21 2003.04.21 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216146A>G;NG_012561.1:g.4997T>C;NM_021014.2:c.-98T>C;NM_175711.1:c.-98T>C 341472904 5906651 20100804_snps_224608_chrX_48216146 2.01e-01 2011.03.24 2011.03.24 2003.04.21 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48216240G>C;NG_012561.1:g.4903C>G;NM_021014.2:c.-192C>G;NM_175711.1:c.-192C>G 8178229 5906652 NT_011568.10_4730232 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 BL 10214 NC_000023.10:g.48216240G>C;NG_012561.1:g.4903C>G;NM_021014.2:c.-192C>G;NM_175711.1:c.-192C>G 255993766 5906652 SNP18037_X_48101184 2010.08.20 2010.08.20 2003.04.21 2011.07.08 137 SC_SNP 10214 NC_000023.10:g.48216241T>C;NG_012561.1:g.4902A>G;NM_021014.2:c.-193A>G;NM_175711.1:c.-193A>G 8178230 5906653 NT_011568.10_4730233 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 BL 10214 NC_000023.10:g.48216241T>C;NG_012561.1:g.4902A>G;NM_021014.2:c.-193A>G;NM_175711.1:c.-193A>G 255993771 5906653 SNP18038_X_48101185 2010.08.20 2010.08.20 2003.04.21 2011.07.08 137 BUSHMAN 10214 NC_000023.10:g.48216249G>A;NG_012561.1:g.4894C>T;NM_021014.2:c.-201C>T;NM_175711.1:c.-201C>T 204232984 113865830 BUSHMAN-chrX-48101192 6.03e-04 2010.03.10 2010.03.10 2010.07.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216249G>A;NG_012561.1:g.4894C>T;NM_021014.2:c.-201C>T;NM_175711.1:c.-201C>T 466498870 113865830 20101123_snps_12666100_chrX_48216249 6.03e-04 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216275C>T;NG_012561.1:g.4868G>A;NM_021014.2:c.-227G>A;NM_175711.1:c.-227G>A 466498871 192365214 20101123_snps_12666101_chrX_48216275 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 10214 NC_000023.10:g.48216359G>A;NG_012561.1:g.4784C>T;NM_021014.2:c.-311C>T;NM_175711.1:c.-311C>T 8489259 6609716 NT_011568.12_11036227 Variation due to paralogous sequence differences (PMID: 21030649). 2003.05.23 2003.10.10 2003.07.11 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48216359G>A;NG_012561.1:g.4784C>T;NM_021014.2:c.-311C>T;NM_175711.1:c.-311C>T 75059470 6609716 ILMN_Human_1M_rs6609716 Variation due to paralogous sequence differences (PMID: 21030649). 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 10214 NC_000023.10:g.48216359G>A;NG_012561.1:g.4784C>T;NM_021014.2:c.-311C>T;NM_175711.1:c.-311C>T 119517402 6609716 KHS1679649 Variation due to paralogous sequence differences (PMID: 21030649). 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48216359G>A;NG_012561.1:g.4784C>T;NM_021014.2:c.-311C>T;NM_175711.1:c.-311C>T 174048128 6609716 Human1M-Duov3_B_rs6609716-127_B_R_1514048400 Variation due to paralogous sequence differences (PMID: 21030649). 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 SC_SNP 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 8489260 6609717 NT_011568.12_11036259 3.83e-01 2003.05.23 2003.10.10 2003.07.11 2012.11.28 137 CSHL-HAPMAP 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 19814248 6609717 CSHL-HuDD-200402.chrX.NT_011568.13_4625781 3.83e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 21066207 6609717 WGSA-200403-chrX.chrX.NT_011568.13_4625781 3.83e-01 2004.03.19 2004.03.19 2003.07.11 2012.11.28 137 ABI 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 43962125 6609717 hCV26687834 3.83e-01 2005.07.18 2005.07.18 2003.07.11 2012.11.28 137 SI_EXO 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 61714226 6609717 NT_079573.2_11066200 3.83e-01 2006.07.11 2006.08.17 2003.07.11 2012.11.28 137 BCMHGSC_JDW 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 94280779 6609717 JWB-2678414 3.83e-01 2008.03.06 2008.03.06 2003.07.11 2012.11.28 137 BGI 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 105731322 6609717 BGI_rs6609717 3.83e-01 2008.09.11 2009.06.19 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 112881694 6609717 CEU.trio.12.15.2008_3866394_chrX_48101335 3.83e-01 2008.12.18 2008.12.18 2003.07.11 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 133967522 6609717 ENSSNP3136315 3.83e-01 2009.05.13 2010.03.07 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 163108755 6609717 NA07022_36_chrX_48101335 3.83e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 166233442 6609717 NA20431_36_chrX_48101335 3.83e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 GMI 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 283748307 6609717 GMI_AK_SNP_8068750 3.83e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 294449309 6609717 SNP_3955667_chrX_48101335 3.83e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216391C>A;NG_012561.1:g.4752G>T;NM_021014.2:c.-343G>T;NM_175711.1:c.-343G>T 341472905 6609717 20100804_snps_224609_chrX_48216391 3.83e-01 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 WI_SSAHASNP 10214 NC_000023.10:g.48216441G>A;NG_012561.1:g.4702C>T;NM_021014.2:c.-393C>T;NM_175711.1:c.-393C>T 12039975 7883405 chrX.NT_011568.12_11036309 Variation due to paralogous sequence differences (PMID: 21030649). 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48216441G>A;NG_012561.1:g.4702C>T;NM_021014.2:c.-393C>T;NM_175711.1:c.-393C>T 75037097 7883405 ILMN_Human_1M_rs7883405 Variation due to paralogous sequence differences (PMID: 21030649). 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 KRIBB_YJKIM 10214 NC_000023.10:g.48216441G>A;NG_012561.1:g.4702C>T;NM_021014.2:c.-393C>T;NM_175711.1:c.-393C>T 119573394 7883405 KHS1735641 Variation due to paralogous sequence differences (PMID: 21030649). 2009.02.05 2009.02.05 2003.07.11 2012.11.28 137 ILLUMINA 10214 NC_000023.10:g.48216441G>A;NG_012561.1:g.4702C>T;NM_021014.2:c.-393C>T;NM_175711.1:c.-393C>T 174600083 7883405 Human1M-Duov3_B_rs7883405-128_B_R_1514017443 Variation due to paralogous sequence differences (PMID: 21030649). 2009.10.04 2009.10.04 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216555C>A;NG_012561.1:g.4588G>T;NM_021014.2:c.-507G>T;NM_175711.1:c.-507G>T 341472906 144573819 20100804_snps_224610_chrX_48216555 5.06e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48216559A>G;NG_012561.1:g.4584T>C;NM_021014.2:c.-511T>C;NM_175711.1:c.-511T>C 466498872 183281316 20101123_snps_12666102_chrX_48216559 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 SC_SNP 10214 NC_000023.10:g.48216588G>C;NG_012561.1:g.4555C>G;NM_021014.2:c.-540C>G;NM_175711.1:c.-540C>G 8489261 6609718 NT_011568.12_11036456 7.84e-03 2003.05.23 2006.10.25 2003.07.11 2012.11.28 137 AFFY 10214 NC_000023.10:g.48216588G>C;NG_012561.1:g.4555C>G;NM_021014.2:c.-540C>G;NM_175711.1:c.-540C>G 76778856 6609718 AFFY_6_1M_SNP_A-8640218 7.84e-03 2007.08.30 2007.08.30 2003.07.11 2012.11.28 137 KRIBB_YJKIM 10214 NC_000023.10:g.48216588G>C;NG_012561.1:g.4555C>G;NM_021014.2:c.-540C>G;NM_175711.1:c.-540C>G 104927018 6609718 KHS1319341 7.84e-03 2008.07.10 2008.07.10 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216588G>C;NG_012561.1:g.4555C>G;NM_021014.2:c.-540C>G;NM_175711.1:c.-540C>G 341472907 6609718 20100804_snps_224611_chrX_48216588 7.84e-03 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216651A>G;NG_012561.1:g.4492T>C;NM_021014.2:c.-603T>C;NM_175711.1:c.-603T>C 466498873 186477533 20101123_snps_12666103_chrX_48216651 2.41e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 10214 NC_000023.10:g.48216705G>A;NG_012561.1:g.4438C>T;NM_021014.2:c.-657C>T;NM_175711.1:c.-657C>T 283748308 199685780 GMI_AK_SNP_8068751 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 10214 NC_000023.10:g.48216716A>C;NG_012561.1:g.4427T>G;NM_021014.2:c.-668T>G;NM_175711.1:c.-668T>G 341472908 141558922 20100804_snps_224612_chrX_48216716 2.41e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48216742G>A;NG_012561.1:g.4401C>T;NM_021014.2:c.-694C>T;NM_175711.1:c.-694C>T 208928204 112625608 BCM_CMT_1011-3383639 2010.03.20 2010.03.20 2010.07.04 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48216763C>T;NG_012561.1:g.4380G>A;NM_021014.2:c.-715G>A;NM_175711.1:c.-715G>A 466498874 192319932 20101123_snps_12666104_chrX_48216763 3.01e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 10214 NC_000023.10:g.48216809C>G;NG_012561.1:g.4334G>C;NM_021014.2:c.-761G>C;NM_175711.1:c.-761G>C 466498875 184645370 20101123_snps_12666105_chrX_48216809 4.82e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48216814C>T;NG_012561.1:g.4329G>A;NM_021014.2:c.-766G>A;NM_175711.1:c.-766G>A 208911668 112850154 BCM_CMT_1011-3367103 3.44e-02 2010.03.20 2010.03.20 2010.07.04 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48216814C>T;NG_012561.1:g.4329G>A;NM_021014.2:c.-766G>A;NM_175711.1:c.-766G>A 466498876 112850154 20101123_snps_12666106_chrX_48216814 3.44e-02 2011.07.20 2011.07.20 2010.07.04 2012.11.28 137 ABI 10214 NC_000023.10:g.48216992delT;NG_012561.1:g.4151delA;NM_021014.2:c.-944delA;NM_175711.1:c.-944delA 43761742 34204803 hCV33612994 2005.07.18 2005.07.18 2006.03.13 2011.07.08 137 SC_SNP 10214 NC_000023.10:g.48217019G>A;NG_012561.1:g.4124C>T;NM_021014.2:c.-971C>T;NM_175711.1:c.-971C>T 8489262 6609719 NT_011568.12_11036887 2003.05.23 2003.10.10 2003.07.11 2011.07.08 137 HGSV 10214 NC_000023.10:g.48217019G>A;NG_012561.1:g.4124C>T;NM_021014.2:c.-971C>T;NM_175711.1:c.-971C>T 77452382 6609719 Cor12156_SNV_20070510.chrX_47973273 2007.10.13 2007.10.13 2003.07.11 2011.07.08 137 HGSV 10214 NC_000023.10:g.48217019G>A;NG_012561.1:g.4124C>T;NM_021014.2:c.-971C>T;NM_175711.1:c.-971C>T 82796714 6609719 Cor18555_SNV_20070510.chrX_47973273 2007.12.03 2007.12.03 2003.07.11 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48217035A>T;NG_012561.1:g.4108T>A;NM_021014.2:c.-987T>A;NM_175711.1:c.-987T>A 466498877 192970306 20101123_snps_12666107_chrX_48217035 5.42e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 10214 NC_000023.10:g.48217142_48217143insT;NG_012561.1:g.4000_4001insA;NM_021014.2:c.-1095_-1094insA;NM_175711.1:c.-1095_-1094insA 43707413 35430827 hCV33612995 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 ABI 10214 NC_000023.10:g.48217143delT;NG_012561.1:g.4000delA;NM_021014.2:c.-1095delA;NM_175711.1:c.-1095delA 43574369 35802609 hCV33840166 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 HGSV 10214 NC_000023.10:g.48217307G>A;NG_012561.1:g.3836C>T;NM_021014.2:c.-1259C>T;NM_175711.1:c.-1259C>T 77659060 56161701 Cor12156_SNV_20070510.chrX_47973561 2007.10.14 2007.10.14 2007.12.07 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48217361G>A;NG_012561.1:g.3782C>T;NM_021014.2:c.-1313C>T;NM_175711.1:c.-1313C>T 466498878 184432684 20101123_snps_12666108_chrX_48217361 4.94e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 10214 NC_000023.10:g.48217425_48217426insATTT;NG_012561.1:g.3717_3718insAAAT;NM_021014.2:c.-1378_-1377insAAAT;NM_175711.1:c.-1378_-1377insAAAT 43776648 35328577 hCV33612996 2005.07.18 2005.07.18 2006.03.15 2011.07.08 137 1000GENOMES 10214 NC_000023.10:g.48217549G>A;NG_012561.1:g.3594C>T;NM_021014.2:c.-1501C>T;NM_175711.1:c.-1501C>T 341472910 138002605 20100804_snps_224614_chrX_48217549 5.06e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48217561A>G;NG_012561.1:g.3582T>C;NM_021014.2:c.-1513T>C;NM_175711.1:c.-1513T>C 341472911 149613093 20100804_snps_224615_chrX_48217561 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 1000GENOMES 10214 NC_000023.10:g.48217576T>C;NG_012561.1:g.3567A>G;NM_021014.2:c.-1528A>G;NM_175711.1:c.-1528A>G 341472912 144339686 20100804_snps_224616_chrX_48217576 4.94e-02 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 HGSV 10214 NC_000023.10:g.48217617T>G;NG_012561.1:g.3526A>C;NM_021014.2:c.-1569A>C;NM_175711.1:c.-1569A>C 77381177 56172303 Cor12156_SNV_20070510.chrX_47973871 2007.10.10 2007.10.12 2007.12.07 2011.07.08 137 SC_SNP 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 8487647 6608800 NT_011568.12_11037527 1.98e-01 2003.05.23 2003.10.10 2003.07.11 2012.11.28 137 ABI 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 43917130 6608800 hCV26687836 1.98e-01 2005.07.18 2005.07.18 2003.07.11 2012.11.28 137 BCMHGSC_JDW 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 94280783 6608800 JWB-2678415 1.98e-01 2008.03.06 2008.03.06 2003.07.11 2012.11.28 137 BGI 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 105731323 6608800 BGI_rs6608800 1.98e-01 2008.09.11 2009.06.19 2003.07.11 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 133707963 6608800 ENSSNP3136316 1.98e-01 2009.05.12 2009.10.14 2003.07.11 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 144586530 6608800 ENSSNP13830569 1.98e-01 2009.06.07 2009.06.07 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 163108761 6608800 NA07022_36_chrX_48102603 1.98e-01 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 208939417 6608800 BCM_CMT_1011-3394852 1.98e-01 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 BL 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 255993778 6608800 SNP18039_X_48102603 1.98e-01 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 283748309 6608800 GMI_AK_SNP_8068752 1.98e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 294449310 6608800 SNP_3955668_chrX_48102603 1.98e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48217659T>C;NG_012561.1:g.3484A>G;NM_021014.2:c.-1611A>G;NM_175711.1:c.-1611A>G 341472913 6608800 20100804_snps_224617_chrX_48217659 1.98e-01 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48217671G>T;NG_012561.1:g.3472C>A;NM_021014.2:c.-1623C>A;NM_175711.1:c.-1623C>A 341472914 143330201 20100804_snps_224618_chrX_48217671 9.64e-03 2011.03.24 2011.03.24 2011.05.09 2011.09.09 137 SC_SNP 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 8487648 6608801 NT_011568.12_11037591 0 2003.05.23 2003.10.10 2003.07.11 2012.11.28 137 HGSV 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 83866864 6608801 Cor18555_SNV_20070510.chrX_47973977 0 2007.12.05 2007.12.05 2003.07.11 2012.11.28 137 BCMHGSC_JDW 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 94280785 6608801 JWB-2678416 0 2008.03.06 2008.03.06 2003.07.11 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 133707967 6608801 ENSSNP3136317 0 2009.05.12 2009.10.14 2003.07.11 2012.11.28 137 ENSEMBL 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 144586536 6608801 ENSSNP5759171 0 2009.06.07 2009.06.07 2003.07.11 2012.11.28 137 GMI 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 157467495 6608801 GMI_SNP_73148312 0 2009.06.25 2009.06.25 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 163108767 6608801 NA07022_36_chrX_48102667 0 2009.09.29 2009.09.29 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 166233453 6608801 NA20431_36_chrX_48102667 0 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 BUSHMAN 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 204232986 6608801 BUSHMAN-chrX-48102666 0 2010.03.10 2010.03.10 2003.07.11 2012.11.28 137 BCM-HGSC-SUB 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 208916358 6608801 BCM_CMT_1011-3371793 0 2010.03.20 2010.03.20 2003.07.11 2012.11.28 137 BL 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 255993785 6608801 SNP18040_X_48102667 0 2010.08.20 2010.08.20 2003.07.11 2012.11.28 137 GMI 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 283748310 6608801 GMI_AK_SNP_8068753 0 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 294449311 6608801 SNP_3955669_chrX_48102667 0 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48217723C>T;NG_012561.1:g.3420G>A;NM_021014.2:c.-1675G>A;NM_175711.1:c.-1675G>A 341472915 6608801 20100804_snps_224619_chrX_48217723 0 2011.03.24 2011.03.24 2003.07.11 2012.11.28 137 GMI 10214 NC_000023.10:g.48217740A>G;NG_012561.1:g.3403T>C;NM_021014.2:c.-1692T>C;NM_175711.1:c.-1692T>C 157467503 75568778 GMI_SNP_72735942 7.96e-02 2009.06.25 2009.06.25 2009.12.01 2012.11.28 137 GMI 10214 NC_000023.10:g.48217740A>G;NG_012561.1:g.3403T>C;NM_021014.2:c.-1692T>C;NM_175711.1:c.-1692T>C 283748311 75568778 GMI_AK_SNP_8068754 7.96e-02 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48217740A>G;NG_012561.1:g.3403T>C;NM_021014.2:c.-1692T>C;NM_175711.1:c.-1692T>C 341472916 75568778 20100804_snps_224620_chrX_48217740 7.96e-02 2011.03.24 2011.03.24 2009.12.01 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48217784C>G;NG_012561.1:g.3359G>C;NM_021014.2:c.-1736G>C;NM_175711.1:c.-1736G>C 466498879 189128552 20101123_snps_12666109_chrX_48217784 4.94e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 10214 NC_000023.10:g.48217953delA;NG_012561.1:g.3190delT;NM_021014.2:c.-1905delT;NM_175711.1:c.-1905delT 82272624 58324442 Cor18555_DIV_20070510.chrX_47974221-47974223_1 2007.12.02 2007.12.02 2007.12.15 2012.11.28 137 GMI 10214 NC_000023.10:g.48217953delA;NG_012561.1:g.3190delT;NM_021014.2:c.-1905delT;NM_175711.1:c.-1905delT 478840750 58324442 GMI_AK_INDEL_1143593 2011.12.30 2011.12.30 2007.12.15 2012.11.28 137 1000GENOMES 10214 NC_000023.10:g.48218004C>T;NG_012561.1:g.3139G>A;NM_021014.2:c.-1956G>A;NM_175711.1:c.-1956G>A 466498880 181796915 20101123_snps_12666110_chrX_48218004 1.21e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 # Report date: 2013.2.9, Gene: SSX3 (10214), ss count: 531, rs count: 224.