# 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 30827 NC_000018.9:g.47808208_47808217delGCGGTCTCCA;NM_001101654.1:c.*746_*755delTGGAGACCGC;NM_014593.3:c.*746_*755delTGGAGACCGC 327978335 143888692 CEU_chr18_46062205_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 30827 NC_000018.9:g.47808235G>T;NM_001101654.1:c.*728C>A;NM_014593.3:c.*728C>A 340112449 151201637 20100804_snps_11755990_chr18_47808235 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 30827 NC_000018.9:g.47808245C>A;NM_001101654.1:c.*718G>T;NM_014593.3:c.*718G>T 465290637 184929657 20101123_snps_11457867_chr18_47808245 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 30827 NC_000018.9:g.47808314C>T;NM_001101654.1:c.*649G>A;NM_014593.3:c.*649G>A 83748960 60556958 Cor19240_SNV_20070510.chr18_46062312 8.20e-03 2007.12.05 2007.12.05 2007.12.16 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808314C>T;NM_001101654.1:c.*649G>A;NM_014593.3:c.*649G>A 114390219 60556958 NA19240_2008_12_16_3165704_chr18_46062312 8.20e-03 2008.12.18 2008.12.18 2007.12.16 2012.11.28 137 COMPLETE_GENOMICS 30827 NC_000018.9:g.47808314C>T;NM_001101654.1:c.*649G>A;NM_014593.3:c.*649G>A 169798909 60556958 NA19240_36_chr18_46062312 8.20e-03 2009.10.01 2009.10.01 2007.12.16 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808314C>T;NM_001101654.1:c.*649G>A;NM_014593.3:c.*649G>A 227868266 60556958 pilot_1_YRI_9677949_chr18_46062312 8.20e-03 2010.04.22 2010.04.22 2007.12.16 2012.11.28 137 PJP 30827 NC_000018.9:g.47808314C>T;NM_001101654.1:c.*649G>A;NM_014593.3:c.*649G>A 292071434 60556958 SNP_1577792_chr18_46062312 8.20e-03 2011.01.21 2011.01.21 2007.12.16 2012.11.28 137 YUSUKE 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 5024395 3837880 IMS-JST142907 2002.08.12 2003.10.10 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 8087184 3837880 INDEL_GP31_93774 2003.04.16 2003.10.10 2002.08.28 2012.11.28 137 ABI 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 40936620 3837880 hCV32774308 2005.07.17 2005.07.17 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 49898737 3837880 INDEL_GP35_TSC_81905 2006.01.23 2006.01.23 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 50136350 3837880 INDEL_GP35_WGS_350882 2006.01.24 2006.01.24 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 101649433 3837880 INDEL_GP36_2008a_228429_0 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 101649436 3837880 INDEL_GP36_2008a_228429_1 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 101649439 3837880 INDEL_GP36_2008a_228429_2 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 101649441 3837880 INDEL_GP36_2008a_228429_3 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 101649445 3837880 INDEL_GP36_2008a_228429_4 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 DEVINE_LAB 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 101649447 3837880 INDEL_GP36_2008a_228429_5 2008.05.17 2008.05.17 2002.08.28 2012.11.28 137 BGI 30827 NC_000018.9:g.47808347A>C;NC_000018.9:g.47808347A>G;NM_001101654.1:c.*616T>C;NM_001101654.1:c.*616T>G;NM_014593.3:c.*616T>C;NM_014593.3:c.*616T>G 106545564 72627205 BGI_rs3837880 variation has been flagged as failed by submitter 2008.09.16 2009.06.19 2009.02.14 2012.11.28 137 GMI 30827 NC_000018.9:g.47808347A>C;NC_000018.9:g.47808347A>G;NM_001101654.1:c.*616T>C;NM_001101654.1:c.*616T>G;NM_014593.3:c.*616T>C;NM_014593.3:c.*616T>G 155167293 72627205 GMI_SNP_116673725 variation has been flagged as failed by submitter 2009.06.24 2009.06.24 2009.02.14 2012.11.28 137 GMI 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 155738362 3837880 GMI_INDEL-152110 2009.06.24 2009.06.24 2002.08.28 2012.11.28 137 GMI 30827 NC_000018.9:g.47808347A>C;NC_000018.9:g.47808347A>G;NM_001101654.1:c.*616T>C;NM_001101654.1:c.*616T>G;NM_014593.3:c.*616T>C;NM_014593.3:c.*616T>G 282995803 72627205 GMI_AK_SNP_7316222 variation has been flagged as failed by submitter 2010.12.16 2010.12.16 2009.02.14 2012.11.28 137 GMI 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 288509729 3837880 GMI_NA10851_INDEL_288062 2010.12.22 2010.12.22 2002.08.28 2012.11.28 137 GMI 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 290488119 3837880 GMI_AK_INDEL_1034233 2011.01.14 2011.12.30 2002.08.28 2012.11.28 137 PJP 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 294940462 3837880 DIP_378166_chr18_46062345 2011.01.22 2011.01.22 2002.08.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 327848303 3837880 JPTCHB_chr18_46062344_indel 2011.03.13 2011.04.03 2002.08.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 327978338 3837880 CEU_chr18_46062344_indel 2011.03.13 2011.04.03 2002.08.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808347delA;NM_001101654.1:c.*616delT;NM_014593.3:c.*616delT 328250081 3837880 YRI_chr18_46062344_indel 2011.03.13 2011.04.04 2002.08.28 2012.11.28 137 ENSEMBL 30827 NC_000018.9:g.47808348G>C;NM_001101654.1:c.*615C>G;NM_014593.3:c.*615C>G 137378755 78007244 ENSSNP11343982 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 30827 NC_000018.9:g.47808431A>T;NM_001101654.1:c.*532T>A;NM_014593.3:c.*532T>A 465290638 189297982 20101123_snps_11457868_chr18_47808431 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 77572 732066 TSC0020810 3.14e-01 2000.09.06 2004.04.07 2000.10.05 2012.11.28 137 YUSUKE 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 4972611 732066 IMS-JST142908 3.14e-01 2002.08.12 2003.10.10 2000.10.05 2012.11.28 137 TSC-CSHL 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 5459959 732066 TSC0167445 3.14e-01 2002.09.21 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 14414210 732066 chr18.NT_010966.13_29297582 3.14e-01 2003.11.07 2003.11.22 2000.10.05 2012.11.28 137 CSHL-HAPMAP 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 19390160 732066 CSHL-HuDD-200402.chr18.NT_010966.13_29297582 3.14e-01 2004.02.21 2004.03.04 2000.10.05 2012.11.28 137 CSHL-HAPMAP 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 20058076 732066 CSHL-HuFF-200402.chr18.NT_010966.13_29297582 3.14e-01 2004.02.22 2004.03.04 2000.10.05 2012.11.28 137 SSAHASNP 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 21473695 732066 WGSA-200403-chr18.chr18.NT_010966.13_29297582 3.14e-01 2004.03.20 2004.03.20 2000.10.05 2012.11.28 137 SEQUENOM 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 24808885 732066 sqnm187355 3.14e-01 2004.06.18 2004.06.18 2000.10.05 2012.11.28 137 ABI 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 44125486 732066 hCV889709 3.14e-01 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 HUMANGENOME_JCVI 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 96510783 732066 1103645195695 3.14e-01 2008.03.26 2008.03.26 2000.10.05 2012.11.28 137 BGI 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 106545565 732066 BGI_rs732066 3.14e-01 2008.09.16 2009.06.19 2000.10.05 2012.11.28 137 ILLUMINA-UK 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 117874004 732066 NA18507_000058262_NCBI36.1_chr18_46062478 3.14e-01 2009.01.20 2009.01.20 2000.10.05 2012.11.28 137 ENSEMBL 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 132687301 732066 ENSSNP1436327 3.14e-01 2009.05.12 2009.10.15 2000.10.05 2012.11.28 137 GMI 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 155167302 732066 GMI_SNP_70666522 3.14e-01 2009.06.24 2009.06.24 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 168227552 732066 NA07022_36_chr18_46062478 3.14e-01 2009.09.30 2009.09.30 2000.10.05 2012.11.28 137 COMPLETE_GENOMICS 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 171792325 732066 NA20431_36_chr18_46062478 3.14e-01 2009.10.01 2009.10.01 2000.10.05 2012.11.28 137 BUSHMAN 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 203268519 732066 BUSHMAN-chr18-46062477 3.14e-01 2010.03.09 2010.03.09 2000.10.05 2012.11.28 137 BCM-HGSC-SUB 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 208235914 732066 BCM_CMT_1011-3041900 3.14e-01 2010.03.19 2010.03.19 2000.10.05 2012.11.28 137 GMI 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 282995804 732066 GMI_AK_SNP_7316223 3.14e-01 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 PJP 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 292071435 732066 SNP_1577793_chr18_46062478 3.14e-01 2011.01.21 2011.01.21 2000.10.05 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808480C>T;NM_001101654.1:c.*483G>A;NM_014593.3:c.*483G>A 465290639 732066 20101123_snps_11457869_chr18_47808480 3.14e-01 2011.07.20 2011.07.20 2000.10.05 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808485delG;NM_001101654.1:c.*478delC;NM_014593.3:c.*478delC 328250082 149763756 YRI_chr18_46062482_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 TSC-CSHL 30827 NC_000018.9:g.47808522C>T;NM_001101654.1:c.*441G>A;NM_014593.3:c.*441G>A 94627 744982 TSC0120906 4.08e-02 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 ABI 30827 NC_000018.9:g.47808522C>T;NM_001101654.1:c.*441G>A;NM_014593.3:c.*441G>A 44074407 744982 hCV889710 4.08e-02 2005.07.18 2005.07.18 2000.10.05 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808522C>T;NM_001101654.1:c.*441G>A;NM_014593.3:c.*441G>A 340112450 744982 20100804_snps_11755991_chr18_47808522 4.08e-02 2011.03.22 2011.03.22 2000.10.05 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808540G>A;NM_001101654.1:c.*423C>T;NM_014593.3:c.*423C>T 465290640 186414985 20101123_snps_11457870_chr18_47808540 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 30827 NC_000018.9:g.47808596G>T;NM_001101654.1:c.*367C>A;NM_014593.3:c.*367C>A 77573 732067 TSC0020811 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808617T>C;NM_001101654.1:c.*346A>G;NM_014593.3:c.*346A>G 465290641 191307244 20101123_snps_11457871_chr18_47808617 9.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 30827 NC_000018.9:g.47808653G>A;NM_001101654.1:c.*310C>T;NM_014593.3:c.*310C>T 114390230 73434063 NA19240_2008_12_16_3165705_chr18_46062651 1.14e-02 2008.12.18 2008.12.18 2009.02.14 2011.09.09 137 COMPLETE_GENOMICS 30827 NC_000018.9:g.47808653G>A;NM_001101654.1:c.*310C>T;NM_014593.3:c.*310C>T 169798930 73434063 NA19240_36_chr18_46062651 1.14e-02 2009.10.01 2009.10.01 2009.02.14 2011.09.09 137 BUSHMAN 30827 NC_000018.9:g.47808653G>A;NM_001101654.1:c.*310C>T;NM_014593.3:c.*310C>T 203268524 73434063 BUSHMAN-chr18-46062650 1.14e-02 2010.03.09 2010.03.09 2009.02.14 2011.09.09 137 1000GENOMES 30827 NC_000018.9:g.47808653G>A;NM_001101654.1:c.*310C>T;NM_014593.3:c.*310C>T 227868268 73434063 pilot_1_YRI_9677951_chr18_46062651 1.14e-02 2010.04.22 2010.04.22 2009.02.14 2011.09.09 137 BUSHMAN 30827 NC_000018.9:g.47808670C>T;NM_001101654.1:c.*293G>A;NM_014593.3:c.*293G>A 203268528 111801974 BUSHMAN-chr18-46062667 1.24e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808670C>T;NM_001101654.1:c.*293G>A;NM_014593.3:c.*293G>A 227868269 111801974 pilot_1_YRI_9677952_chr18_46062668 1.24e-02 2010.04.22 2010.04.22 2010.07.04 2012.11.28 137 LEE 30827 NC_000018.9:g.47808716C>T;NM_001101654.1:c.*247G>A;NM_014593.3:c.*247G>A 4399146 3179211 ge822920 2002.04.25 2003.10.10 2002.05.29 2011.09.09 137 ILLUMINA 30827 NC_000018.9:g.47808716C>T;NM_001101654.1:c.*247G>A;NM_014593.3:c.*247G>A 74965096 3179211 ILMN_Human_1M_rs3179211 2007.08.29 2007.08.29 2002.05.29 2011.09.09 137 KRIBB_YJKIM 30827 NC_000018.9:g.47808716C>T;NM_001101654.1:c.*247G>A;NM_014593.3:c.*247G>A 119455948 3179211 KHS1618195 2009.02.04 2009.02.04 2002.05.29 2011.09.09 137 ILLUMINA 30827 NC_000018.9:g.47808716C>T;NM_001101654.1:c.*247G>A;NM_014593.3:c.*247G>A 173572263 3179211 Human1M-Duov3_B_rs3179211-105_T_F_1513936955 2009.10.04 2009.10.04 2002.05.29 2011.09.09 137 1000GENOMES 30827 NC_000018.9:g.47808719G>A;NM_001101654.1:c.*244C>T;NM_014593.3:c.*244C>T 465290642 181494023 20101123_snps_11457872_chr18_47808719 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 30827 NC_000018.9:g.47808741C>G;NM_001101654.1:c.*222G>C;NM_014593.3:c.*222G>C 340112451 75089807 20100804_snps_11755992_chr18_47808741 1.40e-03 2011.03.22 2011.03.22 2009.12.01 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808751G>A;NM_001101654.1:c.*212C>T;NM_014593.3:c.*212C>T 465290643 186032116 20101123_snps_11457873_chr18_47808751 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 30827 NC_000018.9:g.47808913G>A;NM_001101654.1:c.*50C>T;NM_014593.3:c.*50C>T 489135880 199820431 20110521_exome_241376_chr18_47808913 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 LEE 30827 NC_000018.9:g.47808940G>T;NM_001101654.1:c.*23C>A;NM_014593.3:c.*23C>A 1542156 1059554 822669 2000.09.13 2003.10.10 2000.10.05 2011.07.08 137 LEE 30827 NC_000018.9:g.47808940G>T;NM_001101654.1:c.*23C>A;NM_014593.3:c.*23C>A 4399139 1059554 ge822669 2002.04.25 2003.10.10 2000.10.05 2011.07.08 137 LEE 30827 NC_000018.9:g.47808940G>T;NM_001101654.1:c.*23C>A;NM_014593.3:c.*23C>A 4428792 1059554 e822669 2002.04.26 2003.10.10 2000.10.05 2011.07.08 137 NHLBI-ESP 30827 NC_000018.9:g.47808962C>T;NM_001101654.1:c.*1G>A;NM_014593.3:c.*1G>A 342474810 146913030 ESP2500-chr18-47808962 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47808962C>T;NM_001101654.1:c.*1G>A;NM_014593.3:c.*1G>A 489135882 146913030 20110521_exome_241377_chr18_47808962 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 NHLBI-ESP 30827 NC_000018.9:g.47809065G>A;NM_001101654.1:c.1881C>T;NM_014593.3:c.1869C>T;NP_001095124.1:p.Arg627=;NP_055408.2:p.Arg623= 342474811 139338946 ESP2500-chr18-47809065 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 30827 NC_000018.9:g.47809070C>T;NM_001101654.1:c.1876G>A;NM_014593.3:c.1864G>A;NP_001095124.1:p.Val626Met;NP_055408.2:p.Val622Met 342474812 141174485 ESP2500-chr18-47809070 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 30827 NC_000018.9:g.47809147C>G;NM_001101654.1:c.1837-38G>C;NM_014593.3:c.1825-38G>C 489135884 200781739 20110521_exome_241378_chr18_47809147 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809174C>T;NM_001101654.1:c.1836+50G>A;NM_014593.3:c.1824+50G>A 114390234 73434065 NA19240_2008_12_16_3165706_chr18_46063172 1.14e-02 2008.12.18 2008.12.18 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 30827 NC_000018.9:g.47809174C>T;NM_001101654.1:c.1836+50G>A;NM_014593.3:c.1824+50G>A 169798941 73434065 NA19240_36_chr18_46063172 1.14e-02 2009.10.01 2009.10.01 2009.02.14 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809174C>T;NM_001101654.1:c.1836+50G>A;NM_014593.3:c.1824+50G>A 227868270 73434065 pilot_1_YRI_9677953_chr18_46063172 1.14e-02 2010.04.22 2010.04.22 2009.02.14 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809174C>T;NM_001101654.1:c.1836+50G>A;NM_014593.3:c.1824+50G>A 491140131 73434065 20110521_exome_647929_chr18_47809174 1.14e-02 2012.02.22 2012.02.22 2009.02.14 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809223C>A;NM_001101654.1:c.1836+1G>T;NM_014593.3:c.1824+1G>T 169108667 113663496 Human1M-Duov3_B_GA033343-0_T_F_1533481249 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 NHLBI-ESP 30827 NC_000018.9:g.47809229G>A;NM_001101654.1:c.1831C>T;NM_014593.3:c.1819C>T;NP_001095124.1:p.Arg611Cys;NP_055408.2:p.Arg607Cys 342474813 143447121 ESP2500-chr18-47809229 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 CGAP-GAI 30827 NC_000018.9:g.47809273C>A;NM_001101654.1:c.1787G>T;NM_014593.3:c.1775G>T;NP_001095124.1:p.Cys596Phe;NP_055408.2:p.Cys592Phe 16260724 11555887 1521720 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 NHLBI-ESP 30827 NC_000018.9:g.47809320C>T;NM_001101654.1:c.1740G>A;NM_014593.3:c.1728G>A;NP_001095124.1:p.Thr580=;NP_055408.2:p.Thr576= 342474814 147970151 ESP2500-chr18-47809320 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 30827 NC_000018.9:g.47809395G>A;NM_001101654.1:c.1684-19C>T;NM_014593.3:c.1672-19C>T 489135885 201787511 20110521_exome_241379_chr18_47809395 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809410G>A;NM_001101654.1:c.1684-34C>T;NM_014593.3:c.1672-34C>T 489135887 201271193 20110521_exome_241380_chr18_47809410 0 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809564G>A;NM_001101654.1:c.1683+71C>T;NM_014593.3:c.1671+71C>T 340112452 138236260 20100804_snps_11755993_chr18_47809564 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 30827 NC_000018.9:g.47809610G>A;NM_001101654.1:c.1683+25C>T;NM_014593.3:c.1671+25C>T 489135889 200199517 20110521_exome_241381_chr18_47809610 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 CLINSEQ_SNP 30827 NC_000018.9:g.47809652G>A;NM_001101654.1:c.1666C>T;NM_014593.3:c.1654C>T;NP_001095124.1:p.His556Tyr;NP_055408.2:p.His552Tyr 491750447 200009297 SNV-chr18-46063650 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809664G>A;NM_001101654.1:c.1654C>T;NM_014593.3:c.1642C>T;NP_001095124.1:p.Leu552=;NP_055408.2:p.Leu548= 489135891 202100050 20110521_exome_241382_chr18_47809664 5.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 BUSHMAN 30827 NC_000018.9:g.47809682A>G;NM_001101654.1:c.1636T>C;NM_014593.3:c.1624T>C;NP_001095124.1:p.Cys546Arg;NP_055408.2:p.Cys542Arg 203268531 113646896 BUSHMAN-chr18-46063679 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 APPLERA_GI 30827 NC_000018.9:g.47809695C>T;NM_001101654.1:c.1623G>A;NM_014593.3:c.1611G>A;NP_001095124.1:p.Gln541=;NP_055408.2:p.Gln537= 48421807 34088160 hCV25967714 5.00e-04 2005.11.30 2005.11.30 2006.03.13 2012.11.28 137 NHLBI-ESP 30827 NC_000018.9:g.47809695C>T;NM_001101654.1:c.1623G>A;NM_014593.3:c.1611G>A;NP_001095124.1:p.Gln541=;NP_055408.2:p.Gln537= 342474815 34088160 ESP2500-chr18-47809695 5.00e-04 2011.03.27 2011.03.27 2006.03.13 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809695C>T;NM_001101654.1:c.1623G>A;NM_014593.3:c.1611G>A;NP_001095124.1:p.Gln541=;NP_055408.2:p.Gln537= 489135893 34088160 20110521_exome_241383_chr18_47809695 5.00e-04 2012.02.13 2012.02.13 2006.03.13 2012.11.28 137 NHLBI-ESP 30827 NC_000018.9:g.47809710A>G;NM_001101654.1:c.1608T>C;NM_014593.3:c.1596T>C;NP_001095124.1:p.Asp536=;NP_055408.2:p.Asp532= 342474816 150530383 ESP2500-chr18-47809710 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809710A>G;NM_001101654.1:c.1608T>C;NM_014593.3:c.1596T>C;NP_001095124.1:p.Asp536=;NP_055408.2:p.Asp532= 489135894 150530383 20110521_exome_241384_chr18_47809710 5.00e-04 2012.02.13 2012.02.13 2011.05.09 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809763G>A;NM_001101654.1:c.1587-32C>T;NM_014593.3:c.1575-32C>T 340112453 142342206 20100804_snps_11755994_chr18_47809763 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809763G>A;NM_001101654.1:c.1587-32C>T;NM_014593.3:c.1575-32C>T 491140132 142342206 20110521_exome_647930_chr18_47809763 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809801G>A;NM_001101654.1:c.1587-70C>T;NM_014593.3:c.1575-70C>T 465290644 190506121 20101123_snps_11457874_chr18_47809801 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 30827 NC_000018.9:g.47809811C>G;NM_001101654.1:c.1586+74G>C;NM_014593.3:c.1574+74G>C 465290645 183088108 20101123_snps_11457875_chr18_47809811 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 CLINSEQ_SNP 30827 NC_000018.9:g.47809822C>T;NM_001101654.1:c.1586+63G>A;NM_014593.3:c.1574+63G>A 491750448 200774955 SNV-chr18-46063820 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809843G>C;NM_001101654.1:c.1586+42C>G;NM_014593.3:c.1574+42C>G 243719918 117717402 pilot_1_CHB+JPT_5604995_chr18_46063841 2.29e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809843G>C;NM_001101654.1:c.1586+42C>G;NM_014593.3:c.1574+42C>G 491140133 117717402 20110521_exome_647931_chr18_47809843 2.29e-02 2012.02.22 2012.02.22 2010.07.15 2012.11.28 137 CLINSEQ_SNP 30827 NC_000018.9:g.47809843G>C;NM_001101654.1:c.1586+42C>G;NM_014593.3:c.1574+42C>G 491750449 117717402 SNV-chr18-46063841 2.29e-02 2012.03.07 2012.03.13 2010.07.15 2012.11.28 137 CLINSEQ_SNP 30827 NC_000018.9:g.47809854C>T;NM_001101654.1:c.1586+31G>A;NM_014593.3:c.1574+31G>A 491750450 200332311 SNV-chr18-46063852 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809856A>G;NM_001101654.1:c.1586+29T>C;NM_014593.3:c.1574+29T>C 465290646 188828067 20101123_snps_11457876_chr18_47809856 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809856A>G;NM_001101654.1:c.1586+29T>C;NM_014593.3:c.1574+29T>C 491140134 188828067 20110521_exome_647932_chr18_47809856 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809868G>A;NM_001101654.1:c.1586+17C>T;NM_014593.3:c.1574+17C>T 340112454 146357448 20100804_snps_11755995_chr18_47809868 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809868G>A;NM_001101654.1:c.1586+17C>T;NM_014593.3:c.1574+17C>T 491140135 146357448 20110521_exome_647933_chr18_47809868 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 CSHL-HAPMAP 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 19393525 12458654 CSHL-HuDD-200402.chr18.NT_010966.13_29298973 2.61e-01 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 ABI 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 44070209 12458654 hCV1831001 2.61e-01 2005.07.18 2006.11.03 2004.02.28 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 75040646 12458654 ILMN_Human_1M_rs12458654 2.61e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 HGSV 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 79756554 12458654 Cor18507_SNV_20070510.chr18_46063869 2.61e-01 2007.11.23 2007.11.23 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 96510784 12458654 1103645195696 2.61e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 ILLUMINA-UK 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 117874006 12458654 NA18507_000058263_NCBI36.1_chr18_46063869 2.61e-01 2009.01.20 2009.01.20 2004.02.28 2012.11.28 137 KRIBB_YJKIM 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 119782838 12458654 KHS1844409 2.61e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 160272934 12458654 HumanOmni1-Quad_v1-0_B_rs12458654-128_T_R_1513989474 2.61e-01 2009.08.05 2009.10.02 2004.02.28 2012.11.28 137 ENSEMBL 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 161856421 12458654 ENSSNP1436328 2.61e-01 2009.09.25 2009.09.25 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 168227560 12458654 NA07022_36_chr18_46063869 2.61e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 171792334 12458654 NA20431_36_chr18_46063869 2.61e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 172096682 12458654 Human1M-Duov3_B_rs12458654-127_T_R_1513989474 2.61e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 203268536 12458654 BUSHMAN-chr18-46063868 2.61e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 227868271 12458654 pilot_1_YRI_9677954_chr18_46063869 2.61e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 237471979 12458654 pilot_1_CEU_7076608_chr18_46063869 2.61e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 243719919 12458654 pilot_1_CHB+JPT_5604996_chr18_46063869 2.61e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 PJP 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 292071436 12458654 SNP_1577794_chr18_46063869 2.61e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 479745333 12458654 HumanOmni2.5-4v1_B_rs12458654-128_T_R_1773902429 2.61e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 479751156 12458654 HumanOmniExpress-12v1_C_rs12458654-131_T_R_1857427911 2.61e-01 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 480308276 12458654 HumanOmni1-Quad_v1-0_C_rs12458654-131_T_R_1865349103 2.61e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 484670978 12458654 HumanOmni2.5-4v1_D_rs12458654-131_T_R_1857427911 2.61e-01 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809871G>T;NM_001101654.1:c.1586+14C>A;NM_014593.3:c.1574+14C>A 491140136 12458654 20110521_exome_647934_chr18_47809871 2.61e-01 2012.02.22 2012.02.22 2004.02.28 2012.11.28 137 CLINSEQ_SNP 30827 ARRAY(0x3344b2e0) 491750451 12458654 SNV-chr18-46063869 2.61e-01 2012.03.07 2012.03.13 2004.02.28 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47809946A>G;NM_001101654.1:c.1537-12T>C;NM_014593.3:c.1525-12T>C 489135896 201458628 20110521_exome_241385_chr18_47809946 9.00e-04 2012.02.13 2012.02.13 2012.05.04 2012.11.28 137 1000GENOMES 30827 NC_000018.9:g.47810016_47810017insC;NM_001101654.1:c.1536+58_1536+59insG;NM_014593.3:c.1524+58_1524+59insG 328250083 144679114 YRI_chr18_46064014_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 # Report date: 2013.2.9, Gene: CXXC1 (30827), ss count: 139, rs count: 51.