# 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 7040 NC_000019.9:g.41836335C>T;NG_013364.1:g.28497G>A;NM_000660.4:c.*622G>A 465598938 187229199 20101123_snps_11766168_chr19_41836335 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41836374A>T;NG_013364.1:g.28458T>A;NM_000660.4:c.*583T>A 465598939 191687196 20101123_snps_11766169_chr19_41836374 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GSK-GENETICS 7040 NC_000019.9:g.41836612G>A;NG_013364.1:g.28220C>T;NM_000660.4:c.*345C>T 491256298 202033577 chr19_46528452 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 DEVINE_LAB 7040 NC_000019.9:g.41836616delG;NG_013364.1:g.28216delC;NM_000660.4:c.*341delC 8090739 5828099 INDEL_GP31_120805 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41836616delG;NG_013364.1:g.28216delC;NM_000660.4:c.*341delC 49940284 5828099 INDEL_GP35_TSC_138238 2006.01.23 2006.01.23 2003.04.21 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41836616delG;NG_013364.1:g.28216delC;NM_000660.4:c.*341delC 49984279 5828099 INDEL_GP35_TSC_197203 2006.01.23 2006.01.23 2003.04.21 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41836625A>G;NG_013364.1:g.28207T>C;NM_000660.4:c.*332T>C 491256299 199972613 chr19_46528465 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836630G>A;NG_013364.1:g.28202C>T;NM_000660.4:c.*327C>T 491256300 201098768 chr19_46528470 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836662A>G;NG_013364.1:g.28170T>C;NM_000660.4:c.*295T>C 491256301 201969193 chr19_46528502 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41836692T>C;NG_013364.1:g.28140A>G;NM_000660.4:c.*265A>G 340469682 145297814 20100804_snps_12113223_chr19_41836692 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41836692T>C;NG_013364.1:g.28140A>G;NM_000660.4:c.*265A>G 491256302 145297814 chr19_46528532 1.80e-03 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41836698C>T;NG_013364.1:g.28134G>A;NM_000660.4:c.*259G>A 491256303 201075248 chr19_46528538 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836717G>T;NG_013364.1:g.28115C>A;NM_000660.4:c.*240C>A 491256304 202014722 chr19_46528557 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836735G>C;NG_013364.1:g.28097C>G;NM_000660.4:c.*222C>G 491256305 200340652 chr19_46528575 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836741G>A;NG_013364.1:g.28091C>T;NM_000660.4:c.*216C>T 491256306 201584524 chr19_46528581 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836743G>A;NG_013364.1:g.28089C>T;NM_000660.4:c.*214C>T 491256307 199704340 chr19_46528583 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836755G>C;NG_013364.1:g.28077C>G;NM_000660.4:c.*202C>G 491256308 200451143 chr19_46528595 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836761G>A;NC_000019.9:g.41836761G>C;NG_013364.1:g.28071C>G;NG_013364.1:g.28071C>T;NM_000660.4:c.*196C>G;NM_000660.4:c.*196C>T 491256309 201103297 chr19_46528601 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836777T>C;NG_013364.1:g.28055A>G;NM_000660.4:c.*180A>G 491256310 199517779 chr19_46528617 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836785C>G;NG_013364.1:g.28047G>C;NM_000660.4:c.*172G>C 491256311 200673279 chr19_46528625 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836820C>A;NG_013364.1:g.28012G>T;NM_000660.4:c.*137G>T 491256312 201564160 chr19_46528660 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836821C>T;NG_013364.1:g.28011G>A;NM_000660.4:c.*136G>A 491256313 199636275 chr19_46528661 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836828C>T;NG_013364.1:g.28004G>A;NM_000660.4:c.*129G>A 491256314 200729745 chr19_46528668 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836851G>C;NG_013364.1:g.27981C>G;NM_000660.4:c.*106C>G 491256315 201889805 chr19_46528691 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836859G>T;NG_013364.1:g.27973C>A;NM_000660.4:c.*98C>A 491256316 200179008 chr19_46528699 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836864G>A;NG_013364.1:g.27968C>T;NM_000660.4:c.*93C>T 491256317 201096069 chr19_46528704 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41836976C>T;NG_013364.1:g.27856G>A;NM_000660.4:c.1154G>A;NP_000651.3:p.Arg385His 491256318 201700967 chr19_46528816 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41837060A>C;NG_013364.1:g.27772T>G;NM_000660.4:c.1070T>G;NP_000651.3:p.Val357Gly 491256319 199849225 chr19_46528900 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41837123C>T;NG_013364.1:g.27709G>A;NM_000660.4:c.1015-8G>A 489167685 199982059 20110521_exome_257203_chr19_41837123 2.30e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837192C>A;NG_013364.1:g.27640G>T;NM_000660.4:c.1015-77G>T 465598940 183878618 20101123_snps_11766170_chr19_41837192 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41837378G>C;NG_013364.1:g.27454C>G;NM_000660.4:c.1015-263C>G 228145035 114076245 pilot_1_YRI_9954718_chr19_46529218 1.28e-02 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41837441C>T;NG_013364.1:g.27391G>A;NM_000660.4:c.1015-326G>A 465598941 187926803 20101123_snps_11766171_chr19_41837441 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41837472delT;NC_000019.9:g.41837472delTinsTT;NG_013364.1:g.27360delA;NG_013364.1:g.27360delAinsAA;NM_000660.4:c.1015-357delA;NM_000660.4:c.1015-357delAinsAA 95729044 71179693 1104685412610 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 TSC-CSHL 7040 NC_000019.9:g.41837472_41837474delTTT;NG_013364.1:g.27358_27360delAAA;NM_000660.4:c.1015-359_1015-357delAAA 4292502 3061187 TSC1365665 2001.11.09 2003.10.10 2002.01.05 2011.07.08 137 HGSV 7040 NC_000019.9:g.41837472_41837474delTTT;NG_013364.1:g.27358_27360delAAA;NM_000660.4:c.1015-359_1015-357delAAA 81867855 3061187 Cor19129_DIV_20070510.chr19_46529335-46529339_1 2007.12.01 2007.12.01 2002.01.05 2011.07.08 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 15356591 11466359 IIPGA-TGFB1_24677 1.73e-01 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 96267993 11466359 1103691147377 1.73e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 111391240 11466359 CEU.trio.12.15.2008_3619788_chr19_46529455 1.73e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 133807454 11466359 ENSSNP3254419 1.73e-01 2009.05.12 2009.10.14 2004.02.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 203757586 11466359 BUSHMAN-chr19-46529454 1.73e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 208455043 11466359 BCM_CMT_1011-3109167 1.73e-01 2010.03.19 2010.03.19 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 211965409 11466359 YRI.trio.3.2010_1441629_chr19_46529455 1.73e-01 2010.03.31 2010.03.31 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 228145036 11466359 pilot_1_YRI_9954719_chr19_46529455 1.73e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 237681351 11466359 pilot_1_CEU_7285980_chr19_46529455 1.73e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 243886490 11466359 pilot_1_CHB+JPT_5771567_chr19_46529455 1.73e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41837615G>A;NG_013364.1:g.27217C>T;NM_000660.4:c.1014+418C>T 283213903 11466359 GMI_AK_SNP_7534324 1.73e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41837665_41837667delTTG;NG_013364.1:g.27165_27167delCAA;NM_000660.4:c.1014+366_1014+368delCAA 289389088 199686363 GMI_AK_INDEL_1066546 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41837697C>T;NG_013364.1:g.27135G>A;NM_000660.4:c.1014+336G>A 465598942 192448128 20101123_snps_11766172_chr19_41837697 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 98547 747857 TSC0127773 7.46e-02 2000.09.06 2003.10.10 2000.10.05 2012.11.28 137 SC_JCM 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 5675854 747857 NT_011139.12_1237909 7.46e-02 2003.01.10 2003.10.10 2000.10.05 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 14317695 747857 chr19.NT_011109.15_14105965 7.46e-02 2003.11.07 2007.08.14 2000.10.05 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 15356590 747857 IIPGA-TGFB1_24545 7.46e-02 2003.11.14 2004.04.07 2000.10.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 75224317 747857 ILMN_Human_1M_rs747857 7.46e-02 2007.08.29 2007.08.29 2000.10.05 2012.11.28 137 HGSV 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 84794328 747857 Cor19129_SNV_20070510.chr19_46529587 7.46e-02 2007.12.08 2007.12.08 2000.10.05 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 102644464 747857 KHS1101490 7.46e-02 2008.05.21 2008.05.21 2000.10.05 2012.11.28 137 BGI 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 103439091 747857 BGI_rs747857 7.46e-02 2008.06.06 2009.06.17 2000.10.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 174381104 747857 Human1M-Duov3_B_rs747857-128_T_R_1514186468 7.46e-02 2009.10.04 2009.10.04 2000.10.05 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 203757587 747857 BUSHMAN-chr19-46529586 7.46e-02 2010.03.09 2010.03.09 2000.10.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 211965411 747857 YRI.trio.3.2010_1441630_chr19_46529587 7.46e-02 2010.03.31 2010.03.31 2000.10.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 228145037 747857 pilot_1_YRI_9954720_chr19_46529587 7.46e-02 2010.04.22 2010.04.22 2000.10.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 243886491 747857 pilot_1_CHB+JPT_5771568_chr19_46529587 7.46e-02 2010.05.01 2010.05.01 2000.10.05 2012.11.28 137 GMI 7040 NC_000019.9:g.41837747G>A;NG_013364.1:g.27085C>T;NM_000660.4:c.1014+286C>T 283213904 747857 GMI_AK_SNP_7534325 7.46e-02 2010.12.16 2010.12.16 2000.10.05 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41837984G>A;NG_013364.1:g.26848C>T;NM_000660.4:c.1014+49C>T 491256320 201231811 chr19_46529824 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41837998C>A;NG_013364.1:g.26834G>T;NM_000660.4:c.1014+35G>T 491256321 202125337 chr19_46529838 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838001G>C;NG_013364.1:g.26831C>G;NM_000660.4:c.1014+32C>G 491256322 200364727 chr19_46529841 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41838003G>A;NC_000019.9:g.41838003G>T;NG_013364.1:g.26829C>A;NG_013364.1:g.26829C>T;NM_000660.4:c.1014+30C>A;NM_000660.4:c.1014+30C>T 262867461 149596110 TGFB1-002096_002097-A_G 2010.09.24 2010.09.24 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838003G>A;NC_000019.9:g.41838003G>T;NG_013364.1:g.26829C>A;NG_013364.1:g.26829C>T;NM_000660.4:c.1014+30C>A;NM_000660.4:c.1014+30C>T 491256323 149596110 chr19_46529843 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 CLINSEQ_SNP 7040 NC_000019.9:g.41838003G>A;NC_000019.9:g.41838003G>T;NG_013364.1:g.26829C>A;NG_013364.1:g.26829C>T;NM_000660.4:c.1014+30C>A;NM_000660.4:c.1014+30C>T 491767916 149596110 SNV-chr19-46529843 2012.03.07 2012.03.13 2011.05.09 2012.11.28 137 SI_EXO 7040 NC_000019.9:g.41838007C>G;NG_013364.1:g.26825G>C;NM_000660.4:c.1014+26G>C 52059328 41275752 NT_011109.15_14106225 9.00e-04 2006.03.29 2006.03.29 2006.10.18 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838007C>G;NG_013364.1:g.26825G>C;NM_000660.4:c.1014+26G>C 489167687 41275752 20110521_exome_257204_chr19_41838007 9.00e-04 2012.02.14 2012.02.14 2006.10.18 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838007C>G;NG_013364.1:g.26825G>C;NM_000660.4:c.1014+26G>C 491256324 41275752 chr19_46529847 9.00e-04 2012.03.02 2012.03.02 2006.10.18 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838011T>G;NG_013364.1:g.26821A>C;NM_000660.4:c.1014+22A>C 489167689 201517398 20110521_exome_257205_chr19_41838011 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838016C>T;NG_013364.1:g.26816G>A;NM_000660.4:c.1014+17G>A 491256325 200550755 chr19_46529856 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41838018G>A;NG_013364.1:g.26814C>T;NM_000660.4:c.1014+15C>T 465598943 184356886 20101123_snps_11766173_chr19_41838018 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838018G>A;NG_013364.1:g.26814C>T;NM_000660.4:c.1014+15C>T 491159824 184356886 20110521_exome_667622_chr19_41838018 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838018G>A;NG_013364.1:g.26814C>T;NM_000660.4:c.1014+15C>T 491256326 184356886 chr19_46529858 5.00e-04 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838037C>G;NG_013364.1:g.26795G>C;NM_000660.4:c.1010G>C;NP_000651.3:p.Ser337Thr 491256327 199699574 chr19_46529877 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838050C>T;NG_013364.1:g.26782G>A;NM_000660.4:c.997G>A;NP_000651.3:p.Asp333Asn 491256328 200230083 chr19_46529890 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838054G>A;NG_013364.1:g.26778C>T;NM_000660.4:c.993C>T;NP_000651.3:p.Ser331= 491256329 201281623 chr19_46529894 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838055C>T;NG_013364.1:g.26777G>A;NM_000660.4:c.992G>A;NP_000651.3:p.Ser331Asn 491256330 199713772 chr19_46529895 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 CGM_KYOTO 7040 NC_000019.9:g.41838068G>T;NG_013364.1:g.26764C>A;NM_000660.4:c.979C>A;NP_000651.3:p.Pro327Thr 76869540 56361919 12005 2007.09.12 2007.09.12 2007.12.07 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41838074G>C;NG_013364.1:g.26758C>G;NM_000660.4:c.973C>G;NP_000651.3:p.Pro325Ala 489167691 200209614 20110521_exome_257206_chr19_41838074 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838074G>C;NG_013364.1:g.26758C>G;NM_000660.4:c.973C>G;NP_000651.3:p.Pro325Ala 491256331 200209614 chr19_46529914 5.00e-04 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 15356589 11466358 IIPGA-TGFB1_24217 1.40e-03 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 75023667 11466358 ILMN_Human_1M_rs11466358 1.40e-03 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 119683858 11466358 KHS1807197 1.40e-03 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 159978170 11466358 HumanOmni1-Quad_v1-0_B_rs11466358-128_B_R_1513986569 1.40e-03 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 171254269 11466358 Human1M-Duov3_B_rs11466358-128_B_R_1513986569 1.40e-03 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 262867462 11466358 TGFB1-002168_002169-C_T 1.40e-03 2010.09.24 2010.09.24 2004.02.28 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 342499249 11466358 ESP2500-chr19-41838075 1.40e-03 2011.03.27 2011.03.27 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 479520579 11466358 HumanOmni2.5-4v1_B_rs11466358-128_B_R_1630063538 1.40e-03 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 479524416 11466358 HumanOmniExpress-12v1_C_rs11466358-131_B_R_1853258046 1.40e-03 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 479978487 11466358 HumanOmni1-Quad_v1-0_C_rs11466358-131_B_R_1853258046 1.40e-03 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 484559418 11466358 HumanOmni2.5-4v1_D_rs11466358-131_B_R_1853258046 1.40e-03 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 489167693 11466358 20110521_exome_257207_chr19_41838075 1.40e-03 2012.02.14 2012.02.14 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838075C>T;NG_013364.1:g.26757G>A;NM_000660.4:c.972G>A;NP_000651.3:p.Gly324= 491256332 11466358 chr19_46529915 1.40e-03 2012.03.02 2012.03.02 2004.02.28 2012.11.28 137 CGAP-GAI 7040 NC_000019.9:g.41838084G>A;NG_013364.1:g.26748C>T;NM_000660.4:c.963C>T;NP_000651.3:p.Phe321= 16252305 11551225 1503963 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41838090G>C;NG_013364.1:g.26742C>G;NM_000660.4:c.957C>G;NP_000651.3:p.Ala319= 489167695 201366321 20110521_exome_257208_chr19_41838090 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838103T>C;NG_013364.1:g.26729A>G;NM_000660.4:c.944A>G;NP_000651.3:p.Lys315Arg 491256333 199516461 chr19_46529943 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838108C>A;NG_013364.1:g.26724G>T;NM_000660.4:c.939G>T;NP_000651.3:p.Glu313Asp 491256334 200763912 chr19_46529948 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41838129G>A;NG_013364.1:g.26703C>T;NM_000660.4:c.918C>T;NP_000651.3:p.Leu306= 102661426 72480429 TGFB1_L306L 2008.05.22 2008.05.22 2009.02.14 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41838129G>A;NG_013364.1:g.26703C>T;NM_000660.4:c.918C>T;NP_000651.3:p.Leu306= 262867463 72480429 TGFB1-002222_002223-A_G 2010.09.24 2010.09.24 2009.02.14 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41838129G>A;NG_013364.1:g.26703C>T;NM_000660.4:c.918C>T;NP_000651.3:p.Leu306= 342499250 72480429 ESP2500-chr19-41838129 2011.03.27 2011.03.27 2009.02.14 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838129G>A;NG_013364.1:g.26703C>T;NM_000660.4:c.918C>T;NP_000651.3:p.Leu306= 491256335 72480429 chr19_46529969 2012.03.02 2012.03.02 2009.02.14 2012.11.28 137 CLINSEQ_SNP 7040 NC_000019.9:g.41838129G>A;NG_013364.1:g.26703C>T;NM_000660.4:c.918C>T;NP_000651.3:p.Leu306= 491767917 72480429 SNV-chr19-46529969 2012.03.07 2012.03.13 2009.02.14 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838131G>A;NG_013364.1:g.26701C>T;NM_000660.4:c.916C>T;NP_000651.3:p.Leu306Phe 491256336 199946261 chr19_46529971 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838140G>A;NG_013364.1:g.26692C>T;NM_000660.4:c.907C>T;NP_000651.3:p.Arg303Cys 491256337 200527282 chr19_46529980 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838148A>G;NG_013364.1:g.26684T>C;NM_000660.4:c.899T>C;NP_000651.3:p.Ile300Thr 491256338 201635147 chr19_46529988 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 7040 NC_000019.9:g.41838155G>A;NG_013364.1:g.26677C>T;NM_000660.4:c.892C>T;NP_000651.3:p.Leu298= 342499251 139977837 ESP2500-chr19-41838155 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41838160C>T;NG_013364.1:g.26672G>A;NM_000660.4:c.887G>A;NP_000651.3:p.Arg296Gln 491256339 200164212 chr19_46530000 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 EXOME_CHIP 7040 NC_000019.9:g.41838160C>T;NG_013364.1:g.26672G>A;NM_000660.4:c.887G>A;NP_000651.3:p.Arg296Gln 491547789 200164212 nonsyn_264015_chr_19_41838160 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 CLINSEQ_SNP 7040 NC_000019.9:g.41838160C>T;NG_013364.1:g.26672G>A;NM_000660.4:c.887G>A;NP_000651.3:p.Arg296Gln 491767918 200164212 SNV-chr19-46530000 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838174C>T;NG_013364.1:g.26658G>A;NM_000660.4:c.873G>A;NP_000651.3:p.Lys291= 465598944 190566789 20101123_snps_11766174_chr19_41838174 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838174C>T;NG_013364.1:g.26658G>A;NM_000660.4:c.873G>A;NP_000651.3:p.Lys291= 491159825 190566789 20110521_exome_667623_chr19_41838174 4.10e-03 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838174C>T;NG_013364.1:g.26658G>A;NM_000660.4:c.873G>A;NP_000651.3:p.Lys291= 491256340 190566789 chr19_46530014 4.10e-03 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838203C>T;NG_013364.1:g.26629G>A;NM_000660.4:c.861-17G>A 489167697 200839435 20110521_exome_257209_chr19_41838203 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 CUORCGL 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 12568602 8179181 SNP29 1.05e-01 2003.07.08 2006.10.25 2003.08.27 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 15356588 8179181 IIPGA-TGFB1_24086 1.05e-01 2003.11.14 2004.04.07 2003.08.27 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 16786152 8179181 CSHL-HuAA-200402.chr19.NT_011109.15_14106424 1.05e-01 2004.02.18 2004.04.07 2003.08.27 2012.11.28 137 SI_EXO 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 52082806 8179181 NT_011109.15_14106424 1.05e-01 2006.03.29 2008.03.31 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 66547593 8179181 HumanHap300v1.1_rs8179181 1.05e-01 2006.11.09 2006.11.09 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 67875718 8179181 HumanHap550v1.1_rs8179181 1.05e-01 2006.11.14 2006.11.14 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 68018973 8179181 HumanHap650Yv1.0_rs8179181 1.05e-01 2006.11.15 2006.11.15 2003.08.27 2012.11.28 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 69367817 8179181 PS205524_PA144958040_101 1.05e-01 2007.03.22 2008.03.31 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 70972494 8179181 HumanHap550v3.0__rs8179181 1.05e-01 2007.04.20 2008.03.31 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 71583606 8179181 HumanHap650Yv3.0_rs8179181 1.05e-01 2007.04.23 2007.04.23 2003.08.27 2012.11.28 137 SHGC 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 71640517 8179181 1986 1.05e-01 2007.04.27 2008.03.31 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 75489329 8179181 ILMN_Human_1M_rs8179181 1.05e-01 2007.08.29 2007.08.29 2003.08.27 2012.11.28 137 CGM_KYOTO 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 76869539 8179181 12004 1.05e-01 2007.09.12 2007.09.12 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 79282619 8179181 HumanHap300v2.0_rs8179181 1.05e-01 2007.11.18 2007.11.18 2003.08.27 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 84791771 8179181 KHS811183 1.05e-01 2007.12.08 2007.12.08 2003.08.27 2012.11.28 137 CNG 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 95210821 8179181 28292536 1.05e-01 2008.03.13 2008.03.13 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 122909631 8179181 HumanCNV370v1_C_rs8179181 1.05e-01 2009.04.15 2009.04.15 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 154471267 8179181 Human610_Quadv1_B_rs8179181-128_T_R_1501876285 1.05e-01 2009.06.20 2009.06.20 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 159645799 8179181 Human660W-Quad_v1_A_rs8179181-128_T_R_1501876285 1.05e-01 2009.07.07 2009.07.07 2003.08.27 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 171771355 8179181 NA20431_36_chr19_46530046 1.05e-01 2009.10.01 2009.10.01 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 172403527 8179181 HumanCNV370-Quadv3_C_rs8179181-128_T_R_1501876285 1.05e-01 2009.10.02 2009.10.04 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 174734071 8179181 Human1M-Duov3_B_rs8179181-128_T_R_1501876285 1.05e-01 2009.10.05 2009.10.05 2003.08.27 2012.11.28 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 208516330 8179181 BCM_CMT_1011-3130051 1.05e-01 2010.03.19 2010.03.19 2003.08.27 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 237681353 8179181 pilot_1_CEU_7285982_chr19_46530046 1.05e-01 2010.05.01 2010.05.01 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 244312985 8179181 CVDSNP55v1_A_rs8179181 1.05e-01 2010.06.10 2010.06.10 2003.08.27 2012.11.28 137 BL 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 255683523 8179181 SNP52636_19_46530046 1.05e-01 2010.08.20 2010.08.20 2003.08.27 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 262867464 8179181 TGFB1-002299_002300-A_G 1.05e-01 2010.09.24 2010.09.24 2003.08.27 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 410955040 8179181 Cardio-Metabo_Chip_11395247_A_rs8179181 1.05e-01 2011.06.08 2011.06.08 2003.08.27 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 491159826 8179181 20110521_exome_667624_chr19_41838206 1.05e-01 2012.02.22 2012.02.22 2003.08.27 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 491256341 8179181 chr19_46530046 1.05e-01 2012.03.02 2012.03.02 2003.08.27 2012.11.28 137 CLINSEQ_SNP 7040 NC_000019.9:g.41838206G>A;NC_000019.9:g.41838206G>C;NC_000019.9:g.41838206G>T;NG_013364.1:g.26626C>A;NG_013364.1:g.26626C>G;NG_013364.1:g.26626C>T;NM_000660.4:c.861-20C>A;NM_000660.4:c.861-20C>G;NM_000660.4:c.861-20C>T 491767919 8179181 SNV-chr19-46530046 1.05e-01 2012.03.07 2012.03.13 2003.08.27 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41838219A>G;NG_013364.1:g.26613T>C;NM_000660.4:c.861-33T>C 491256342 199952420 chr19_46530059 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41838227C>G;NG_013364.1:g.26605G>C;NM_000660.4:c.861-41G>C 491256343 201019135 chr19_46530067 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 IMCJ-GDT 7040 NC_000019.9:g.41838287C>T;NG_013364.1:g.26545G>A;NM_000660.4:c.861-101G>A 22887844 13306709 IMCJ-TGFB1_6-AG 5.50e-03 2004.03.22 2006.10.26 2004.04.05 2012.11.28 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41838287C>T;NG_013364.1:g.26545G>A;NM_000660.4:c.861-101G>A 69367816 13306709 PS205524_PA144957944_101 5.50e-03 2007.03.22 2008.03.31 2004.04.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838287C>T;NG_013364.1:g.26545G>A;NM_000660.4:c.861-101G>A 243886492 13306709 pilot_1_CHB+JPT_5771569_chr19_46530127 5.50e-03 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838287C>T;NG_013364.1:g.26545G>A;NM_000660.4:c.861-101G>A 482346697 13306709 HumanOmni2.5-4v1_D_kgp21501161-0_T_R_1844354602 5.50e-03 2012.02.01 2012.02.01 2004.04.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838287C>T;NG_013364.1:g.26545G>A;NM_000660.4:c.861-101G>A 483829758 13306709 HumanOmni2.5-4v1_B_SNP19-46530127-0_T_R_1635692345 5.50e-03 2012.02.03 2012.02.03 2004.04.05 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41838288C>G;NG_013364.1:g.26544G>C;NM_000660.4:c.861-102G>C 262867465 147219478 TGFB1-002381_002382-C_G 7.30e-03 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41838288C>G;NG_013364.1:g.26544G>C;NM_000660.4:c.861-102G>C 340469683 147219478 20100804_snps_12113224_chr19_41838288 7.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41838299C>T;NG_013364.1:g.26533G>A;NM_000660.4:c.861-113G>A 262867466 140253220 TGFB1-002392_002393-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41838406T>A;NG_013364.1:g.26426A>T;NM_000660.4:c.861-220A>T 340469684 142192777 20100804_snps_12113225_chr19_41838406 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 GMI 7040 NC_000019.9:g.41838465G>T;NG_013364.1:g.26367C>A;NM_000660.4:c.861-279C>A 283213905 143069059 GMI_AK_SNP_7534326 2.30e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838465G>T;NG_013364.1:g.26367C>A;NM_000660.4:c.861-279C>A 340469685 143069059 20100804_snps_12113226_chr19_41838465 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838574G>T;NG_013364.1:g.26258C>A;NM_000660.4:c.861-388C>A 340469686 151179235 20100804_snps_12113227_chr19_41838574 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41838645A>G;NG_013364.1:g.26187T>C;NM_000660.4:c.861-459T>C 340469687 140084178 20100804_snps_12113228_chr19_41838645 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41838710G>A;NG_013364.1:g.26122C>T;NM_000660.4:c.861-524C>T 465598945 182232665 20101123_snps_11766175_chr19_41838710 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 7040 NC_000019.9:g.41838794delT;NG_013364.1:g.26038delA;NM_000660.4:c.861-608delA 15249067 11367425 INDEL_GP34_WGS_383430 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41838801A>T;NG_013364.1:g.26031T>A;NM_000660.4:c.861-615T>A 465598946 184554722 20101123_snps_11766176_chr19_41838801 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41838887G>A;NG_013364.1:g.25945C>T;NM_000660.4:c.861-701C>T 465598947 188971743 20101123_snps_11766177_chr19_41838887 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41838960G>A;NG_013364.1:g.25872C>T;NM_000660.4:c.861-774C>T 15356587 11466357 IIPGA-TGFB1_23332 4.10e-03 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838960G>A;NG_013364.1:g.25872C>T;NM_000660.4:c.861-774C>T 159978169 11466357 HumanOmni1-Quad_v1-0_B_rs11466357-128_T_R_1563006221 4.10e-03 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41838960G>A;NG_013364.1:g.25872C>T;NM_000660.4:c.861-774C>T 340469688 11466357 20100804_snps_12113229_chr19_41838960 4.10e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41838960G>A;NG_013364.1:g.25872C>T;NM_000660.4:c.861-774C>T 479978484 11466357 HumanOmni1-Quad_v1-0_C_rs11466357-131_T_R_1858960778 4.10e-03 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41839016C>T;NG_013364.1:g.25816G>A;NM_000660.4:c.861-830G>A 15356586 11466356 IIPGA-TGFB1_23276 1.56e-02 2003.11.14 2004.04.07 2004.02.28 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41839016C>T;NG_013364.1:g.25816G>A;NM_000660.4:c.861-830G>A 203757588 11466356 BUSHMAN-chr19-46530855 1.56e-02 2010.03.09 2010.03.09 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41839016C>T;NG_013364.1:g.25816G>A;NM_000660.4:c.861-830G>A 228145038 11466356 pilot_1_YRI_9954721_chr19_46530856 1.56e-02 2010.04.22 2010.04.22 2004.02.28 2011.09.09 137 GMI 7040 NC_000019.9:g.41839112C>T;NG_013364.1:g.25720G>A;NM_000660.4:c.861-926G>A 283213906 200215397 GMI_AK_SNP_7534327 2010.12.16 2010.12.16 2012.05.04 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41839112C>T;NG_013364.1:g.25720G>A;NM_000660.4:c.861-926G>A 482340046 200215397 HumanOmni2.5-4v1_D_kgp21463710-0_B_F_1844279705 2012.02.01 2012.02.01 2012.05.04 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41839112C>T;NG_013364.1:g.25720G>A;NM_000660.4:c.861-926G>A 483829762 200215397 HumanOmni2.5-4v1_B_SNP19-46530952-0_B_F_1622640933 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41839113T>A;NG_013364.1:g.25719A>T;NM_000660.4:c.861-927A>T 12457787 8104525 chr19.NT_011109.15_14107331 2003.07.04 2003.10.10 2003.07.11 2012.12.05 137 SSAHASNP 7040 NC_000019.9:g.41839113T>A;NG_013364.1:g.25719A>T;NM_000660.4:c.861-927A>T 35140965 8104525 TA-079.chr19_46530953 2005.03.11 2003.07.11 2012.12.05 137 WI_SSAHASNP 7040 NC_000019.9:g.41839114A>T;NG_013364.1:g.25718T>A;NM_000660.4:c.861-928T>A 12456106 8103575 chr19.NT_011109.15_14107332 2003.07.04 2003.10.10 2003.07.11 2011.09.09 137 BCMHGSC_JDW 7040 NC_000019.9:g.41839114A>T;NG_013364.1:g.25718T>A;NM_000660.4:c.861-928T>A 90976606 8103575 JWB-1170435 2008.03.01 2008.03.01 2003.07.11 2011.09.09 137 DEVINE_LAB 7040 NC_000019.9:g.41839115delT;NG_013364.1:g.25717delA;NM_000660.4:c.861-929delA 15210811 11331966 INDEL_GP34_WGS_330331 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41839115_41839116insT;NG_013364.1:g.25716_25717insA;NM_000660.4:c.861-930_861-929insA 95729045 71179694 1104685412611 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41839115_41839116insT;NG_013364.1:g.25716_25717insA;NM_000660.4:c.861-930_861-929insA 101836901 71179694 INDEL_GP36_2008a_2249144_0 2008.05.18 2008.05.18 2009.02.13 2012.11.28 137 GMI 7040 NC_000019.9:g.41839136G>T;NG_013364.1:g.25696C>A;NM_000660.4:c.861-950C>A 283213907 201049447 GMI_AK_SNP_7534328 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41839140C>G;NG_013364.1:g.25692G>C;NM_000660.4:c.861-954G>C 15356585 11466355 IIPGA-TGFB1_23152 2003.11.14 2003.11.22 2004.02.28 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41839142G>C;NG_013364.1:g.25690C>G;NM_000660.4:c.861-956C>G 15356584 11466354 IIPGA-TGFB1_23150 2003.11.14 2003.11.22 2004.02.28 2011.09.09 137 PJP 7040 NC_000019.9:g.41839378delA;NG_013364.1:g.25454delT;NM_000660.4:c.861-1192delT 294963418 143154443 DIP_401122_chr19_46531218 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41839456C>T;NG_013364.1:g.25376G>A;NM_000660.4:c.861-1270G>A 340469689 137885540 20100804_snps_12113230_chr19_41839456 5.50e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 7040 NC_000019.9:g.41839516G>A;NG_013364.1:g.25316C>T;NM_000660.4:c.861-1330C>T 82985690 59466792 Cor18555_SNV_20070510.chr19_46531356 2007.12.04 2007.12.04 2007.12.15 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41839587C>T;NG_013364.1:g.25245G>A;NM_000660.4:c.861-1401G>A 465598948 181335346 20101123_snps_11766178_chr19_41839587 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 12458869 8105161 chr19.NT_011109.15_14107849 2.33e-01 untested 2003.07.04 2003.10.10 2003.07.11 2013.01.31 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 15356583 8105161 IIPGA-TGFB1_22661 2.33e-01 untested 2003.11.14 2004.04.07 2003.07.11 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 21545421 8105161 WGSA-200403-chr19.chr19.NT_011109.15_14107849 2.33e-01 untested 2004.03.20 2004.03.20 2003.07.11 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 75209139 8105161 ILMN_Human_1M_rs8105161 2.33e-01 untested 2007.08.29 2007.08.29 2003.07.11 2013.01.31 137 HGSV 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 83679438 8105161 Cor18555_SNV_20070510.chr19_46531471 2.33e-01 untested 2007.12.05 2007.12.05 2003.07.11 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 96267994 8105161 1103691147379 2.33e-01 untested 2008.03.26 2008.03.26 2003.07.11 2013.01.31 137 BGI 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 103439092 8105161 BGI_rs8105161 2.33e-01 untested 2008.06.06 2009.06.17 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 111391248 8105161 CEU.trio.12.15.2008_3619789_chr19_46531471 2.33e-01 untested 2008.12.17 2008.12.17 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 115149584 8105161 NA19240_2008_12_16_3261260_chr19_46531471 2.33e-01 untested 2008.12.19 2008.12.19 2003.07.11 2013.01.31 137 KRIBB_YJKIM 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 119584721 8105161 KHS1746968 2.33e-01 untested 2009.02.05 2009.02.05 2003.07.11 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 136262389 8105161 ENSSNP1531678 2.33e-01 untested 2009.05.15 2009.10.15 2003.07.11 2013.01.31 137 GMI 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 155910747 8105161 GMI_SNP_74314490 2.33e-01 untested 2009.06.24 2009.06.24 2003.07.11 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 169769446 8105161 NA19240_36_chr19_46531471 2.33e-01 untested 2009.10.01 2009.10.01 2003.07.11 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 174721009 8105161 Human1M-Duov3_B_rs8105161-128_B_F_1514191038 2.33e-01 untested 2009.10.05 2009.10.05 2003.07.11 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 203757589 8105161 BUSHMAN-chr19-46531470 2.33e-01 untested 2010.03.09 2010.03.09 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 228145039 8105161 pilot_1_YRI_9954722_chr19_46531471 2.33e-01 untested 2010.04.22 2010.04.22 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 237681355 8105161 pilot_1_CEU_7285984_chr19_46531471 2.33e-01 untested 2010.05.01 2010.05.01 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 243886493 8105161 pilot_1_CHB+JPT_5771570_chr19_46531471 2.33e-01 untested 2010.05.01 2010.05.01 2003.07.11 2013.01.31 137 GMI 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 283213908 8105161 GMI_AK_SNP_7534329 2.33e-01 untested 2010.12.16 2010.12.16 2003.07.11 2013.01.31 137 PJP 7040 NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 292179486 8105161 SNP_1685844_chr19_46531471 2.33e-01 untested 2011.01.21 2011.01.21 2003.07.11 2013.01.31 137 GENEREVIEWS 7040 NG_013364.1:g.25201A>G NC_000019.9:g.41839631T>C;NG_013364.1:g.25201A>G;NM_000660.4:c.861-1445A>G 647514686 8105161 NG_013364.1:g.25201A>G 2.33e-01 untested 2012.12.12 2012.12.12 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41839635G>A;NG_013364.1:g.25197C>T;NM_000660.4:c.861-1449C>T 465598949 185836723 20101123_snps_11766179_chr19_41839635 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41839656A>G;NG_013364.1:g.25176T>C;NM_000660.4:c.861-1470T>C 340469690 142206902 20100804_snps_12113231_chr19_41839656 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41839838G>T;NG_013364.1:g.24994C>A;NM_000660.4:c.861-1652C>A 15356582 11466353 IIPGA-TGFB1_22454 3.02e-02 2003.11.14 2004.04.07 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41839838G>T;NG_013364.1:g.24994C>A;NM_000660.4:c.861-1652C>A 171771363 11466353 NA20431_36_chr19_46531678 3.02e-02 2009.10.01 2009.10.01 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41839838G>T;NG_013364.1:g.24994C>A;NM_000660.4:c.861-1652C>A 237681356 11466353 pilot_1_CEU_7285985_chr19_46531678 3.02e-02 2010.05.01 2010.05.01 2004.02.28 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41839845C>T;NG_013364.1:g.24987G>A;NM_000660.4:c.861-1659G>A 15356581 11466352 IIPGA-TGFB1_22447 2003.11.14 2003.11.22 2004.02.28 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41839846G>A;NG_013364.1:g.24986C>T;NM_000660.4:c.861-1660C>T 15356580 11466351 IIPGA-TGFB1_22446 1.40e-03 2003.11.14 2004.04.07 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41839846G>A;NG_013364.1:g.24986C>T;NM_000660.4:c.861-1660C>T 340469691 11466351 20100804_snps_12113232_chr19_41839846 1.40e-03 2011.03.22 2011.03.22 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41839943A>G;NG_013364.1:g.24889T>C;NM_000660.4:c.861-1757T>C 465598950 191336637 20101123_snps_11766180_chr19_41839943 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41840017C>T;NG_013364.1:g.24815G>A;NM_000660.4:c.861-1831G>A 340469692 138390373 20100804_snps_12113233_chr19_41840017 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41840022G>A;NG_013364.1:g.24810C>T;NM_000660.4:c.861-1836C>T 340469693 149621304 20100804_snps_12113234_chr19_41840022 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41840050C>T;NG_013364.1:g.24782G>A;NM_000660.4:c.861-1864G>A 203757590 112447991 BUSHMAN-chr19-46531889 7.46e-02 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 GMI 7040 NC_000019.9:g.41840050C>T;NG_013364.1:g.24782G>A;NM_000660.4:c.861-1864G>A 283213909 112447991 GMI_AK_SNP_7534330 7.46e-02 2010.12.16 2010.12.16 2010.07.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41840050C>T;NG_013364.1:g.24782G>A;NM_000660.4:c.861-1864G>A 340469694 112447991 20100804_snps_12113235_chr19_41840050 7.46e-02 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41840517T>C;NG_013364.1:g.24315A>G;NM_000660.4:c.861-2331A>G 15356579 11466350 IIPGA-TGFB1_21775 3.20e-03 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41840517T>C;NG_013364.1:g.24315A>G;NM_000660.4:c.861-2331A>G 340469695 11466350 20100804_snps_12113236_chr19_41840517 3.20e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41840569G>C;NG_013364.1:g.24263C>G;NM_000660.4:c.861-2383C>G 15356578 11466349 IIPGA-TGFB1_21723 7.51e-02 untested 2003.11.14 2004.04.07 2004.02.28 2012.12.12 137 BUSHMAN 7040 NC_000019.9:g.41840569G>C;NG_013364.1:g.24263C>G;NM_000660.4:c.861-2383C>G 203757591 11466349 BUSHMAN-chr19-46532408 7.51e-02 untested 2010.03.09 2010.03.09 2004.02.28 2012.12.12 137 GMI 7040 NC_000019.9:g.41840569G>C;NG_013364.1:g.24263C>G;NM_000660.4:c.861-2383C>G 283213910 11466349 GMI_AK_SNP_7534331 7.51e-02 untested 2010.12.16 2010.12.16 2004.02.28 2012.12.12 137 1000GENOMES 7040 NC_000019.9:g.41840569G>C;NG_013364.1:g.24263C>G;NM_000660.4:c.861-2383C>G 340469696 11466349 20100804_snps_12113237_chr19_41840569 7.51e-02 untested 2011.03.22 2011.03.22 2004.02.28 2012.12.12 137 GENEREVIEWS 7040 NG_013364.1:g.24263C>G NC_000019.9:g.41840569G>C;NG_013364.1:g.24263C>G;NM_000660.4:c.861-2383C>G 647514685 11466349 NG_013364.1:g.24263C>G 7.51e-02 untested 2012.12.12 2012.12.12 2004.02.28 2012.12.12 137 BUSHMAN 7040 NC_000019.9:g.41840960_41840961insT;NG_013364.1:g.23871_23872insA;NM_000660.4:c.861-2775_861-2774insA 193511789 112898716 BUSHMAN-chr19-46532801-46532801 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41840962_41840963insT;NG_013364.1:g.23869_23870insA;NM_000660.4:c.861-2777_861-2776insA 95729046 66780031 1104685412614 2008.03.23 2008.12.03 2009.02.04 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41840962_41840963insT;NG_013364.1:g.23869_23870insA;NM_000660.4:c.861-2777_861-2776insA 100769208 66780031 INDEL_GP36_2008a_1290053_0 2008.05.17 2008.05.17 2009.02.04 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41840962_41840963insT;NG_013364.1:g.23869_23870insA;NM_000660.4:c.861-2777_861-2776insA 100769209 66780031 INDEL_GP36_2008a_1290053_1 2008.05.17 2008.05.17 2009.02.04 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41840962_41840963insT;NG_013364.1:g.23869_23870insA;NM_000660.4:c.861-2777_861-2776insA 102259458 66780031 INDEL_GP36_2008a_2727772_0 2008.05.18 2008.05.18 2009.02.04 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41840962_41840963insT;NG_013364.1:g.23869_23870insA;NM_000660.4:c.861-2777_861-2776insA 102259461 66780031 INDEL_GP36_2008a_2727772_1 2008.05.18 2008.05.18 2009.02.04 2012.11.28 137 GMI 7040 NC_000019.9:g.41840962_41840963insT;NG_013364.1:g.23869_23870insA;NM_000660.4:c.861-2777_861-2776insA 289389089 66780031 GMI_AK_INDEL_1066547 2010.12.30 2011.12.30 2009.02.04 2012.11.28 137 PJP 7040 NC_000019.9:g.41840962_41840963insT;NG_013364.1:g.23869_23870insA;NM_000660.4:c.861-2777_861-2776insA 294963419 66780031 DIP_401123_chr19_46532808 2011.01.22 2011.01.22 2009.02.04 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41841014A>G;NG_013364.1:g.23818T>C;NM_000660.4:c.861-2828T>C 15356577 11466348 IIPGA-TGFB1_21278 2.70e-03 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41841014A>G;NG_013364.1:g.23818T>C;NM_000660.4:c.861-2828T>C 340469698 11466348 20100804_snps_12113239_chr19_41841014 2.70e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41841094A>G;NG_013364.1:g.23738T>C;NM_000660.4:c.861-2908T>C 475843799 201981750 GMI_AK_SNP_8512297 2011.11.24 2011.11.24 2012.05.04 2012.05.04 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 15356576 11466347 IIPGA-TGFB1_21194 1.56e-01 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 21541469 11466347 WGSA-200403-chr19.chr19.NT_011109.15_14109316 1.56e-01 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 96267995 11466347 1103691147380 1.56e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 136262386 11466347 ENSSNP1531679 1.56e-01 2009.05.15 2009.10.15 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 169769465 11466347 NA19240_36_chr19_46532938 1.56e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 283213911 11466347 GMI_AK_SNP_7534332 1.56e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 292179487 11466347 SNP_1685845_chr19_46532938 1.56e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41841098C>T;NG_013364.1:g.23734G>A;NM_000660.4:c.861-2912G>A 340469699 11466347 20100804_snps_12113240_chr19_41841098 1.56e-01 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41841254C>T;NG_013364.1:g.23578G>A;NM_000660.4:c.861-3068G>A 340469700 147648962 20100804_snps_12113241_chr19_41841254 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41841366C>T;NG_013364.1:g.23466G>A;NM_000660.4:c.861-3180G>A 340469701 140491174 20100804_snps_12113242_chr19_41841366 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41841475C>G;NG_013364.1:g.23357G>C;NM_000660.4:c.861-3289G>C 465598951 181072225 20101123_snps_11766181_chr19_41841475 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41841512T>G;NG_013364.1:g.23320A>C;NM_000660.4:c.861-3326A>C 465598952 186051435 20101123_snps_11766182_chr19_41841512 2.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41841529C>G;NG_013364.1:g.23303G>C;NM_000660.4:c.861-3343G>C 465598953 191990847 20101123_snps_11766183_chr19_41841529 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41841546C>T;NG_013364.1:g.23286G>A;NM_000660.4:c.861-3360G>A 340469703 145512469 20100804_snps_12113244_chr19_41841546 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41841558T>C;NG_013364.1:g.23274A>G;NM_000660.4:c.861-3372A>G 340469704 148838759 20100804_snps_12113245_chr19_41841558 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41841591C>T;NG_013364.1:g.23241G>A;NM_000660.4:c.861-3405G>A 228145040 78683362 pilot_1_YRI_9954723_chr19_46533431 1.14e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41841652G>C;NG_013364.1:g.23180C>G;NM_000660.4:c.861-3466C>G 340469705 142568853 20100804_snps_12113246_chr19_41841652 5.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41841673C>T;NG_013364.1:g.23159G>A;NM_000660.4:c.861-3487G>A 228145041 114503260 pilot_1_YRI_9954724_chr19_46533513 7.30e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41841749A>G;NG_013364.1:g.23083T>C;NM_000660.4:c.861-3563T>C 465598954 183066664 20101123_snps_11766184_chr19_41841749 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41841792G>A;NG_013364.1:g.23040C>T;NM_000660.4:c.861-3606C>T 465598955 187449949 20101123_snps_11766185_chr19_41841792 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BGI 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 104719173 72544846 BGI_rs33950017 2008.06.09 2008.06.09 2009.02.14 2012.11.28 137 BGI 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 105487485 72544846 BGI_YHIndelrs33950017 2008.09.10 2009.06.16 2009.02.14 2012.11.28 137 GMI 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 155773212 72544846 GMI_INDEL-156468 2009.06.24 2009.06.24 2009.02.14 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 193511791 72544846 BUSHMAN-chr19-46533644-46533644 2010.02.16 2010.02.16 2009.02.14 2012.11.28 137 BL 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 256206313 72544846 SNP4041_19_46533644 2010.08.20 2010.08.20 2009.02.14 2012.11.28 137 GMI 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 288526141 72544846 GMI_NA10851_INDEL_296537 2010.12.22 2010.12.22 2009.02.14 2012.11.28 137 GMI 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 289389090 72544846 GMI_AK_INDEL_1066548 2010.12.30 2011.12.30 2009.02.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 327905864 72544846 JPTCHB_chr19_46533644_indel 2011.03.13 2011.04.03 2009.02.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 328033674 72544846 CEU_chr19_46533644_indel 2011.03.13 2011.04.03 2009.02.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 328277205 72544846 YRI_chr19_46533644_indel 2011.03.13 2011.04.04 2009.02.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41841800_41841801insG;NG_013364.1:g.23031_23032insC;NM_000660.4:c.861-3615_861-3614insC 499582396 72544846 20110316_indels_chr19_41841804_41841805 2012.03.20 2012.03.20 2009.02.14 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 8090740 5828100 INDEL_GP31_184276 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 15259405 5828100 INDEL_GP34_WGS_395551 2003.11.13 2003.11.22 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 49877632 5828100 INDEL_GP35_TSC_53883 2006.01.23 2006.01.23 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 49917941 5828100 INDEL_GP35_TSC_107699 2006.01.23 2006.01.23 2003.04.21 2012.11.28 137 HGSV 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 79881135 5828100 Cor18507_DIV_20070510.chr19_46533645-46533646_1 2007.11.24 2007.11.24 2003.04.21 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 95729047 5828100 1104685412615 2008.03.23 2008.12.03 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 99731591 5828100 INDEL_GP36_2007a_2938669_0 2008.05.06 2008.05.06 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 101681499 5828100 INDEL_GP36_2008a_1781201_0 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 102033472 5828100 INDEL_GP36_2008a_2938669_1 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 102033475 5828100 INDEL_GP36_2008a_2938669_2 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 102033478 5828100 INDEL_GP36_2008a_2938669_3 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 102033480 5828100 INDEL_GP36_2008a_2938669_4 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 102033482 5828100 INDEL_GP36_2008a_2938669_5 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 102033487 5828100 INDEL_GP36_2008a_2938669_6 2008.05.18 2008.05.18 2003.04.21 2012.11.28 137 PJP 7040 NC_000019.9:g.41841805_41841806insG;NG_013364.1:g.23026_23027insC;NM_000660.4:c.861-3620_861-3619insC 294963420 5828100 DIP_401124_chr19_46533645 2011.01.22 2011.01.22 2003.04.21 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41841806C>G;NG_013364.1:g.23026G>C;NM_000660.4:c.861-3620G>C 203757592 111858044 BUSHMAN-chr19-46533645 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41842060C>G;NG_013364.1:g.22772G>C;NM_000660.4:c.861-3874G>C 340469706 146412330 20100804_snps_12113247_chr19_41842060 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41842117G>A;NG_013364.1:g.22715C>T;NM_000660.4:c.861-3931C>T 340469707 140820708 20100804_snps_12113248_chr19_41842117 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41842150G>A;NG_013364.1:g.22682C>T;NM_000660.4:c.861-3964C>T 465598956 190361842 20101123_snps_11766186_chr19_41842150 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGSV 7040 NC_000019.9:g.41842192C>T;NG_013364.1:g.22640G>A;NM_000660.4:c.861-4006G>A 80345520 57441595 Cor18507_SNV_20070510.chr19_46534032 5.00e-03 2007.11.25 2007.11.25 2007.12.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41842192C>T;NG_013364.1:g.22640G>A;NM_000660.4:c.861-4006G>A 340469708 57441595 20100804_snps_12113249_chr19_41842192 5.00e-03 2011.03.22 2011.03.22 2007.12.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41842272C>G;NG_013364.1:g.22560G>C;NM_000660.4:c.861-4086G>C 340469709 138494688 20100804_snps_12113250_chr19_41842272 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 7040 NC_000019.9:g.41842292delT;NG_013364.1:g.22540delA;NM_000660.4:c.861-4106delA 81768304 60810325 Cor18555_DIV_20070510.chr19_46534146-46534148_1 2007.12.01 2007.12.01 2007.12.16 2011.09.09 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41842292delT;NG_013364.1:g.22540delA;NM_000660.4:c.861-4106delA 95729048 60810325 1104685412616 2008.03.23 2008.12.03 2007.12.16 2011.09.09 137 PJP 7040 NC_000019.9:g.41842292delT;NG_013364.1:g.22540delA;NM_000660.4:c.861-4106delA 294963421 60810325 DIP_401125_chr19_46534147 2011.01.22 2011.01.22 2007.12.16 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41842464_41842465insT;NG_013364.1:g.22367_22368insA;NM_000660.4:c.861-4279_861-4278insA 193511793 113456914 BUSHMAN-chr19-46534305-46534305 2010.02.16 2010.02.16 2010.07.04 2011.07.08 137 HGSV 7040 NC_000019.9:g.41842466_41842467insT;NG_013364.1:g.22365_22366insA;NM_000660.4:c.861-4281_861-4280insA 77867601 55943202 Cor12156_DIV_20070510.chr19_46534316-46534317_1 2007.10.15 2007.10.15 2007.12.06 2012.11.28 137 HGSV 7040 NC_000019.9:g.41842466_41842467insT;NG_013364.1:g.22365_22366insA;NM_000660.4:c.861-4281_861-4280insA 81768294 55943202 Cor18555_DIV_20070510.chr19_46534316-46534317_1 2007.12.01 2007.12.01 2007.12.06 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41842466_41842467insT;NG_013364.1:g.22365_22366insA;NM_000660.4:c.861-4281_861-4280insA 95729049 55943202 1104685412617 2008.03.23 2008.12.03 2007.12.06 2012.11.28 137 GMI 7040 NC_000019.9:g.41842466_41842467insT;NG_013364.1:g.22365_22366insA;NM_000660.4:c.861-4281_861-4280insA 289389091 55943202 GMI_AK_INDEL_1066549 2010.12.30 2011.12.30 2007.12.06 2012.11.28 137 PJP 7040 NC_000019.9:g.41842466_41842467insT;NG_013364.1:g.22365_22366insA;NM_000660.4:c.861-4281_861-4280insA 294963422 55943202 DIP_401126_chr19_46534312 2011.01.22 2011.01.22 2007.12.06 2012.11.28 137 GMI 7040 NC_000019.9:g.41842477G>T;NG_013364.1:g.22355C>A;NM_000660.4:c.861-4291C>A 283213912 200995356 GMI_AK_SNP_7534333 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41842490T>G;NG_013364.1:g.22342A>C;NM_000660.4:c.861-4304A>C 15356575 11466346 IIPGA-TGFB1_19802 3.20e-03 2003.11.14 2003.11.22 2004.02.28 2011.09.09 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41842490T>G;NG_013364.1:g.22342A>C;NM_000660.4:c.861-4304A>C 96307422 11466346 1103691147383 3.20e-03 2008.03.26 2008.03.26 2004.02.28 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41842490T>G;NG_013364.1:g.22342A>C;NM_000660.4:c.861-4304A>C 136262382 11466346 ENSSNP1531680 3.20e-03 2009.05.15 2009.10.15 2004.02.28 2011.09.09 137 PJP 7040 NC_000019.9:g.41842490T>G;NG_013364.1:g.22342A>C;NM_000660.4:c.861-4304A>C 292179488 11466346 SNP_1685846_chr19_46534330 3.20e-03 2011.01.21 2011.01.21 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41842490T>G;NG_013364.1:g.22342A>C;NM_000660.4:c.861-4304A>C 340469710 11466346 20100804_snps_12113251_chr19_41842490 3.20e-03 2011.03.22 2011.03.22 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41842629C>T;NG_013364.1:g.22203G>A;NM_000660.4:c.861-4443G>A 465598957 182824258 20101123_snps_11766187_chr19_41842629 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41842674A>G;NG_013364.1:g.22158T>C;NM_000660.4:c.861-4488T>C 340469711 150257197 20100804_snps_12113252_chr19_41842674 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41842748A>G;NG_013364.1:g.22084T>C;NM_000660.4:c.861-4562T>C 340469712 138893217 20100804_snps_12113253_chr19_41842748 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HGSV 7040 NC_000019.9:g.41842859_41842860insT;NG_013364.1:g.21972_21973insA;NM_000660.4:c.861-4674_861-4673insA 77867602 56403763 Cor12156_DIV_20070510.chr19_46534713-46534714_1 2007.10.15 2007.10.15 2007.12.08 2012.11.28 137 HGSV 7040 NC_000019.9:g.41842859_41842860insT;NG_013364.1:g.21972_21973insA;NM_000660.4:c.861-4674_861-4673insA 83216249 56403763 Cor19240_DIV_20070510.chr19_46534713-46534714_1 2007.12.04 2007.12.04 2007.12.08 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41842859_41842860insT;NG_013364.1:g.21972_21973insA;NM_000660.4:c.861-4674_861-4673insA 95729050 56403763 1104685412618 2008.03.23 2008.12.03 2007.12.08 2012.11.28 137 GMI 7040 NC_000019.9:g.41842859_41842860insT;NG_013364.1:g.21972_21973insA;NM_000660.4:c.861-4674_861-4673insA 289389092 56403763 GMI_AK_INDEL_1066550 2010.12.30 2011.12.30 2007.12.08 2012.11.28 137 PJP 7040 NC_000019.9:g.41842859_41842860insT;NG_013364.1:g.21972_21973insA;NM_000660.4:c.861-4674_861-4673insA 294963423 56403763 DIP_401127_chr19_46534699 2011.01.22 2011.01.22 2007.12.08 2012.11.28 137 PJP 7040 NC_000019.9:g.41842859_41842860insT;NG_013364.1:g.21972_21973insA;NM_000660.4:c.861-4674_861-4673insA 294963424 56403763 DIP_401128_chr19_46534713 2011.01.22 2011.01.22 2007.12.08 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41842873T>A;NG_013364.1:g.21959A>T;NM_000660.4:c.861-4687A>T 137680512 78615843 ENSSNP11447758 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 SSAHASNP 7040 NC_000019.9:g.41842874A>T;NG_013364.1:g.21958T>A;NM_000660.4:c.861-4688T>A 35126491 28769597 TA-079.chr19_46534714 2005.03.11 2005.05.24 2012.11.28 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41842874A>T;NG_013364.1:g.21958T>A;NM_000660.4:c.861-4688T>A 208530743 28769597 BCM_CMT_1011-3134914 2010.03.19 2010.03.19 2005.05.24 2012.11.28 137 GMI 7040 NC_000019.9:g.41842874A>T;NG_013364.1:g.21958T>A;NM_000660.4:c.861-4688T>A 283213913 28769597 GMI_AK_SNP_7534334 2010.12.16 2010.12.16 2005.05.24 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41842875A>T;NG_013364.1:g.21957T>A;NM_000660.4:c.861-4689T>A 90976608 62120968 JWB-2966630 variation has been flagged as failed by submitter 2008.03.01 2008.03.01 2008.03.24 2011.07.08 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41842953C>T;NG_013364.1:g.21879G>A;NM_000660.4:c.861-4767G>A 171771371 111980786 NA20431_36_chr19_46534793 2009.10.01 2009.10.01 2010.07.04 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41843194C>G;NG_013364.1:g.21638G>C;NM_000660.4:c.860+4594G>C 465598958 188079840 20101123_snps_11766188_chr19_41843194 4.10e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41843248G>A;NG_013364.1:g.21584C>T;NM_000660.4:c.860+4540C>T 465598959 192902933 20101123_snps_11766189_chr19_41843248 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41843383T>C;NG_013364.1:g.21449A>G;NM_000660.4:c.860+4405A>G 340469713 149365967 20100804_snps_12113254_chr19_41843383 2.30e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41843420G>A;NG_013364.1:g.21412C>T;NM_000660.4:c.860+4368C>T 208560076 113925314 BCM_CMT_1011-3144694 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 15356574 11466345 IIPGA-TGFB1_18831 1.53e-01 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 21557778 11466345 WGSA-200403-chr19.chr19.NT_011109.15_14111679 1.53e-01 2004.03.20 2006.10.26 2004.02.28 2012.11.28 137 PERLEGEN 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 69228624 11466345 PGP13306894 1.53e-01 2007.01.30 2008.03.31 2004.02.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 84591417 11466345 Cor19129_SNV_20070510.chr19_46535301 1.53e-01 2007.12.07 2007.12.07 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 96267996 11466345 1103691147388 1.53e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 132766199 11466345 ENSSNP1531681 1.53e-01 2009.05.12 2009.10.15 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 159978168 11466345 HumanOmni1-Quad_v1-0_B_rs11466345-128_T_F_1561718313 1.53e-01 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 203757593 11466345 BUSHMAN-chr19-46535300 1.53e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 237681359 11466345 pilot_1_CEU_7285988_chr19_46535301 1.53e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 244272494 11466345 CVDSNP55v1_A_rs11466345 1.53e-01 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 283213914 11466345 GMI_AK_SNP_7534335 1.53e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 292179489 11466345 SNP_1685847_chr19_46535301 1.53e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 410893332 11466345 Cardio-Metabo_Chip_11395247_A_rs11466345 1.53e-01 2011.06.07 2011.06.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41843461T>C;NG_013364.1:g.21371A>G;NM_000660.4:c.860+4327A>G 479978480 11466345 HumanOmni1-Quad_v1-0_C_rs11466345-131_T_F_1858947082 1.53e-01 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41843497T>G;NG_013364.1:g.21335A>C;NM_000660.4:c.860+4291A>C 340469714 147489543 20100804_snps_12113255_chr19_41843497 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41843515A>C;NG_013364.1:g.21317T>G;NM_000660.4:c.860+4273T>G 465598960 184503017 20101123_snps_11766190_chr19_41843515 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41843516_41843517delTC;NG_013364.1:g.21315_21316delGA;NM_000660.4:c.860+4271_860+4272delGA 328277206 149030280 YRI_chr19_46535355_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41843658G>A;NG_013364.1:g.21174C>T;NM_000660.4:c.860+4130C>T 465598961 187696139 20101123_snps_11766191_chr19_41843658 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 7040 NC_000019.9:g.41843716G>C;NG_013364.1:g.21116C>G;NM_000660.4:c.860+4072C>G 203757594 113231320 BUSHMAN-chr19-46535555 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41843819G>A;NG_013364.1:g.21013C>T;NM_000660.4:c.860+3969C>T 228145042 115200481 pilot_1_YRI_9954725_chr19_46535659 5.50e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41843853T>C;NG_013364.1:g.20979A>G;NM_000660.4:c.860+3935A>G 465598962 192591675 20101123_snps_11766192_chr19_41843853 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 MPI_MOLGEN 7040 NC_000019.9:g.41843895A>C;NG_013364.1:g.20937T>G;NM_000660.4:c.860+3893T>G 469257292 186392246 Chromosome19_46535735 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 HGSV 7040 NC_000019.9:g.41843922C>G;NG_013364.1:g.20910G>C;NM_000660.4:c.860+3866G>C 85944929 60470288 Cor19129_SNV_20070510.chr19_46535762 2007.12.10 2007.12.10 2007.12.16 2011.07.08 137 BUSHMAN 7040 NC_000019.9:g.41843966G>A;NG_013364.1:g.20866C>T;NM_000660.4:c.860+3822C>T 203757595 111939557 BUSHMAN-chr19-46535805 1.40e-03 2010.03.09 2010.03.09 2010.07.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41843966G>A;NG_013364.1:g.20866C>T;NM_000660.4:c.860+3822C>T 340469715 111939557 20100804_snps_12113256_chr19_41843966 1.40e-03 2011.03.22 2011.03.22 2010.07.04 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41844097delA;NG_013364.1:g.20735delT;NM_000660.4:c.860+3691delT 193511795 112843512 BUSHMAN-chr19-46535936-46535937 2010.02.16 2010.02.16 2010.07.04 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41844373C>T;NG_013364.1:g.20459G>A;NM_000660.4:c.860+3415G>A 465598963 184784334 20101123_snps_11766193_chr19_41844373 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41844388C>T;NG_013364.1:g.20444G>A;NM_000660.4:c.860+3400G>A 340469716 143870039 20100804_snps_12113257_chr19_41844388 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41844389G>A;NG_013364.1:g.20443C>T;NM_000660.4:c.860+3399C>T 465598964 189414757 20101123_snps_11766194_chr19_41844389 2.30e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 7040 NC_000019.9:g.41844414A>G;NG_013364.1:g.20418T>C;NM_000660.4:c.860+3374T>C 137680515 76109053 ENSSNP11447759 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41844466G>A;NG_013364.1:g.20366C>T;NM_000660.4:c.860+3322C>T 340469717 147216490 20100804_snps_12113258_chr19_41844466 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41844539T>C;NG_013364.1:g.20293A>G;NM_000660.4:c.860+3249A>G 203757596 113743111 BUSHMAN-chr19-46536378 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 BCM_SSAHASNP 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 10925625 6508975 chr19.NT_011109.15_14112777 3.04e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 12456591 6508975 chr19.NT_011109.15_14112777 3.04e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 21536113 6508975 WGSA-200403-chr19.chr19.NT_011109.15_14112777 3.04e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 77375960 6508975 Cor12156_SNV_20070510.chr19_46536399 3.04e-01 2007.10.10 2007.10.12 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 85068851 6508975 Cor19129_SNV_20070510.chr19_46536399 3.04e-01 2007.12.08 2007.12.08 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 96267997 6508975 1103691147389 3.04e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 136262380 6508975 ENSSNP1531682 3.04e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 168214334 6508975 NA07022_36_chr19_46536399 3.04e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 169769479 6508975 NA19240_36_chr19_46536399 3.04e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 203757597 6508975 BUSHMAN-chr19-46536398 3.04e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 GMI 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 283213915 6508975 GMI_AK_SNP_7534336 3.04e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 292179490 6508975 SNP_1685848_chr19_46536399 3.04e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41844559T>C;NG_013364.1:g.20273A>G;NM_000660.4:c.860+3229A>G 340469718 6508975 20100804_snps_12113259_chr19_41844559 3.04e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41844723G>A;NG_013364.1:g.20109C>T;NM_000660.4:c.860+3065C>T 465598965 181690515 20101123_snps_11766195_chr19_41844723 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 7040 NC_000019.9:g.41844739C>A;NG_013364.1:g.20093G>T;NM_000660.4:c.860+3049G>T 137680518 78364286 ENSSNP11447760 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 HGSV 7040 NC_000019.9:g.41844741_41844742insA;NG_013364.1:g.20090_20091insT;NM_000660.4:c.860+3046_860+3047insT 81846251 61631301 Cor19129_DIV_20070510.chr19_46536594-46536595_1 2007.12.01 2007.12.01 2007.12.16 2011.07.08 137 HGSV 7040 NC_000019.9:g.41844741_41844742insA;NG_013364.1:g.20090_20091insT;NM_000660.4:c.860+3046_860+3047insT 82019391 61631301 Cor19129_DIV_20070510.chr19_46536594-46536595_2 2007.12.01 2007.12.01 2007.12.16 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41844834G>A;NG_013364.1:g.19998C>T;NM_000660.4:c.860+2954C>T 465598966 185273413 20101123_snps_11766196_chr19_41844834 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41844847T>A;NG_013364.1:g.19985A>T;NM_000660.4:c.860+2941A>T 340469719 142223507 20100804_snps_12113260_chr19_41844847 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41844871G>A;NG_013364.1:g.19961C>T;NM_000660.4:c.860+2917C>T 465598967 189760209 20101123_snps_11766197_chr19_41844871 5.50e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 7040 NC_000019.9:g.41844875_41844876delGT;NG_013364.1:g.19956_19957delAC;NM_000660.4:c.860+2912_860+2913delAC 288526143 146522051 GMI_NA10851_INDEL_296538 2010.12.22 2010.12.22 2011.05.09 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41844875_41844876delGT;NG_013364.1:g.19956_19957delAC;NM_000660.4:c.860+2912_860+2913delAC 327905867 146522051 JPTCHB_chr19_46536714_indel 2011.03.13 2011.04.03 2011.05.09 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41844875_41844876delGT;NG_013364.1:g.19956_19957delAC;NM_000660.4:c.860+2912_860+2913delAC 328033676 146522051 CEU_chr19_46536714_indel 2011.03.13 2011.04.03 2011.05.09 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41844875_41844876delGT;NG_013364.1:g.19956_19957delAC;NM_000660.4:c.860+2912_860+2913delAC 328277207 146522051 YRI_chr19_46536714_indel 2011.03.13 2011.04.04 2011.05.09 2011.10.06 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41844891_41844892insTGTGTG;NG_013364.1:g.19940_19941insCACACA;NM_000660.4:c.860+2896_860+2897insCACACA 95729051 71179696 1104685412619 2008.03.23 2008.12.03 2009.02.13 2012.11.28 137 GMI 7040 NC_000019.9:g.41844891_41844892insTGTGTG;NG_013364.1:g.19940_19941insCACACA;NM_000660.4:c.860+2896_860+2897insCACACA 289389093 71179696 GMI_AK_INDEL_1066551 2010.12.30 2011.12.30 2009.02.13 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41844906G>A;NG_013364.1:g.19926C>T;NM_000660.4:c.860+2882C>T 465598968 181129584 20101123_snps_11766198_chr19_41844906 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41844972T>C;NG_013364.1:g.19860A>G;NM_000660.4:c.860+2816A>G 340469720 150761460 20100804_snps_12113261_chr19_41844972 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 SSAHASNP 7040 NC_000019.9:g.41844991A>C;NG_013364.1:g.19841T>G;NM_000660.4:c.860+2797T>G 35390338 28730295 TA-079.chr19_46536831 2.30e-03 2005.03.11 2005.05.24 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41844991A>C;NG_013364.1:g.19841T>G;NM_000660.4:c.860+2797T>G 340469721 28730295 20100804_snps_12113262_chr19_41844991 2.30e-03 2011.03.22 2011.03.22 2005.05.24 2012.11.28 137 ABI 7040 NC_000019.9:g.41845030_41845031insT;NG_013364.1:g.19801_19802insA;NM_000660.4:c.860+2757_860+2758insA 41010155 35169655 hCV33846221 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 ENSEMBL 7040 NC_000019.9:g.41845030A>T;NG_013364.1:g.19802T>A;NM_000660.4:c.860+2758T>A 137680522 76975282 ENSSNP11447761 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41845030_41845031insT;NG_013364.1:g.19801_19802insA;NM_000660.4:c.860+2757_860+2758insA 193511797 35169655 BUSHMAN-chr19-46536870-46536870 2010.02.16 2010.02.16 2006.03.14 2011.07.08 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41845031_41845032insT;NG_013364.1:g.19800_19801insA;NM_000660.4:c.860+2756_860+2757insA 95729052 71179697 1104685412620 2008.03.23 2008.12.03 2009.02.13 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41845085G>T;NG_013364.1:g.19747C>A;NM_000660.4:c.860+2703C>A 465598969 185964326 20101123_snps_11766199_chr19_41845085 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41845105C>T;NG_013364.1:g.19727G>A;NM_000660.4:c.860+2683G>A 465598970 190917627 20101123_snps_11766200_chr19_41845105 4.60e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 7040 NC_000019.9:g.41845113T>G;NG_013364.1:g.19719A>C;NM_000660.4:c.860+2675A>C 283213916 201608577 GMI_AK_SNP_7534337 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41845180C>T;NG_013364.1:g.19652G>A;NM_000660.4:c.860+2608G>A 340469722 149896996 20100804_snps_12113263_chr19_41845180 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41845216G>A;NG_013364.1:g.19616C>T;NM_000660.4:c.860+2572C>T 465598971 181920987 20101123_snps_11766201_chr19_41845216 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845313C>T;NG_013364.1:g.19519G>A;NM_000660.4:c.860+2475G>A 15356573 11466344 IIPGA-TGFB1_16979 1.30e-01 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845313C>T;NG_013364.1:g.19519G>A;NM_000660.4:c.860+2475G>A 111391264 11466344 CEU.trio.12.15.2008_3619791_chr19_46537153 1.30e-01 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41845313C>T;NG_013364.1:g.19519G>A;NM_000660.4:c.860+2475G>A 168214346 11466344 NA07022_36_chr19_46537153 1.30e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845313C>T;NG_013364.1:g.19519G>A;NM_000660.4:c.860+2475G>A 228145044 11466344 pilot_1_YRI_9954727_chr19_46537153 1.30e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845313C>T;NG_013364.1:g.19519G>A;NM_000660.4:c.860+2475G>A 237681361 11466344 pilot_1_CEU_7285990_chr19_46537153 1.30e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41845313C>T;NG_013364.1:g.19519G>A;NM_000660.4:c.860+2475G>A 283213917 11466344 GMI_AK_SNP_7534338 1.30e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845455C>T;NG_013364.1:g.19377G>A;NM_000660.4:c.860+2333G>A 15356572 11466343 IIPGA-TGFB1_16837 1.83e-02 2003.11.14 2004.04.07 2004.02.28 2011.09.09 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41845455C>T;NG_013364.1:g.19377G>A;NM_000660.4:c.860+2333G>A 168214348 11466343 NA07022_36_chr19_46537295 1.83e-02 2009.09.30 2009.09.30 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41845455C>T;NG_013364.1:g.19377G>A;NM_000660.4:c.860+2333G>A 340469723 11466343 20100804_snps_12113264_chr19_41845455 1.83e-02 2011.03.22 2011.03.22 2004.02.28 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845493G>C;NG_013364.1:g.19339C>G;NM_000660.4:c.860+2295C>G 137680525 76892008 ENSSNP11447762 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845500C>T;NG_013364.1:g.19332G>A;NM_000660.4:c.860+2288G>A 137680528 80301152 ENSSNP11447763 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41845512G>A;NG_013364.1:g.19320C>T;NM_000660.4:c.860+2276C>T 465598972 186406083 20101123_snps_11766202_chr19_41845512 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41845533G>T;NG_013364.1:g.19299C>A;NM_000660.4:c.860+2255C>A 340469724 140782046 20100804_snps_12113265_chr19_41845533 9.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845545T>C;NG_013364.1:g.19287A>G;NM_000660.4:c.860+2243A>G 137680531 77172031 ENSSNP11447764 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845555C>A;NG_013364.1:g.19277G>T;NM_000660.4:c.860+2233G>T 137680534 77583598 ENSSNP11447765 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845556A>T;NG_013364.1:g.19276T>A;NM_000660.4:c.860+2232T>A 137680536 78956871 ENSSNP11447766 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845559G>C;NG_013364.1:g.19273C>G;NM_000660.4:c.860+2229C>G 137680539 80070462 ENSSNP11447767 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845561C>G;NG_013364.1:g.19271G>C;NM_000660.4:c.860+2227G>C 15356571 11466342 IIPGA-TGFB1_16731 2003.11.14 2003.11.22 2004.02.28 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845571A>T;NG_013364.1:g.19261T>A;NM_000660.4:c.860+2217T>A 137680543 74817130 ENSSNP11447768 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41845573C>A;NG_013364.1:g.19259G>T;NM_000660.4:c.860+2215G>T 465598973 190797286 20101123_snps_11766203_chr19_41845573 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845574C>G;NC_000019.9:g.41845574C>T;NG_013364.1:g.19258G>A;NG_013364.1:g.19258G>C;NM_000660.4:c.860+2214G>A;NM_000660.4:c.860+2214G>C 15356570 11466341 IIPGA-TGFB1_16718 2.66e-02 2003.11.14 2004.04.07 2004.02.28 2012.05.16 137 HGSV 7040 NC_000019.9:g.41845574C>G;NC_000019.9:g.41845574C>T;NG_013364.1:g.19258G>A;NG_013364.1:g.19258G>C;NM_000660.4:c.860+2214G>A;NM_000660.4:c.860+2214G>C 85073960 11466341 Cor19129_SNV_20070510.chr19_46537414 2.66e-02 2007.12.08 2007.12.08 2004.02.28 2012.05.16 137 ENSEMBL 7040 NC_000019.9:g.41845574C>G;NC_000019.9:g.41845574C>T;NG_013364.1:g.19258G>A;NG_013364.1:g.19258G>C;NM_000660.4:c.860+2214G>A;NM_000660.4:c.860+2214G>C 137680546 11466341 ENSSNP11447769 2.66e-02 2009.05.16 2009.05.16 2004.02.28 2012.05.16 137 1000GENOMES 7040 NC_000019.9:g.41845574C>G;NC_000019.9:g.41845574C>T;NG_013364.1:g.19258G>A;NG_013364.1:g.19258G>C;NM_000660.4:c.860+2214G>A;NM_000660.4:c.860+2214G>C 237681362 11466341 pilot_1_CEU_7285991_chr19_46537414 2.66e-02 2010.05.01 2010.05.01 2004.02.28 2012.05.16 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845579A>G;NG_013364.1:g.19253T>C;NM_000660.4:c.860+2209T>C 15356569 11466340 IIPGA-TGFB1_16713 1.47e-02 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845579A>G;NG_013364.1:g.19253T>C;NM_000660.4:c.860+2209T>C 340469725 11466340 20100804_snps_12113266_chr19_41845579 1.47e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41845584C>T;NG_013364.1:g.19248G>A;NM_000660.4:c.860+2204G>A 137680548 80216693 ENSSNP11447770 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41845585C>T;NG_013364.1:g.19247G>A;NM_000660.4:c.860+2203G>A 340469726 146634660 20100804_snps_12113267_chr19_41845585 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845622A>C;NG_013364.1:g.19210T>G;NM_000660.4:c.860+2166T>G 15356568 11466339 IIPGA-TGFB1_16670 1.01e-02 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845622A>C;NG_013364.1:g.19210T>G;NM_000660.4:c.860+2166T>G 340469727 11466339 20100804_snps_12113268_chr19_41845622 1.01e-02 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41845662G>A;NG_013364.1:g.19170C>T;NM_000660.4:c.860+2126C>T 137680552 78154298 ENSSNP11447771 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845677C>T;NG_013364.1:g.19155G>A;NM_000660.4:c.860+2111G>A 137680555 78660714 ENSSNP11447772 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845679A>T;NG_013364.1:g.19153T>A;NM_000660.4:c.860+2109T>A 137680557 77464040 ENSSNP11447773 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845684A>G;NG_013364.1:g.19148T>C;NM_000660.4:c.860+2104T>C 137680560 74377190 ENSSNP11447774 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845685C>T;NG_013364.1:g.19147G>A;NM_000660.4:c.860+2103G>A 137680564 79707377 ENSSNP11447775 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41845686G>A;NG_013364.1:g.19146C>T;NM_000660.4:c.860+2102C>T 465598974 183039715 20101123_snps_11766204_chr19_41845686 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41845690C>T;NG_013364.1:g.19142G>A;NM_000660.4:c.860+2098G>A 465598975 186924792 20101123_snps_11766205_chr19_41845690 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ENSEMBL 7040 NC_000019.9:g.41845692G>A;NG_013364.1:g.19140C>T;NM_000660.4:c.860+2096C>T 137680567 78642813 ENSSNP11447776 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41845703T>A;NG_013364.1:g.19129A>T;NM_000660.4:c.860+2085A>T 137680570 76206402 ENSSNP11447777 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 YUSUKE 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 3215620 2278422 IMS-JST025704 4.46e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 6630004 2278422 NT_011109.13_4001274 4.46e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 15356567 2278422 IIPGA-TGFB1_16534 4.46e-01 2003.11.14 2004.04.07 2001.09.28 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 20064668 2278422 CSHL-HuFF-200402.chr19.NT_011109.15_14113976 4.46e-01 2004.02.22 2007.08.14 2001.09.28 2012.11.28 137 PERLEGEN 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 46554525 2278422 PS03511303 4.46e-01 2005.08.01 2005.08.01 2001.09.28 2012.11.28 137 BGI 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 106055536 2278422 BGI_rs2278422 4.46e-01 2008.09.13 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 111391275 2278422 CEU.trio.12.15.2008_3619792_chr19_46537598 4.46e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 ILLUMINA-UK 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 117709341 2278422 NA18507_000047212_NCBI36.1_chr19_46537598 4.46e-01 2009.01.20 2009.01.20 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 155910758 2278422 GMI_SNP_41058118 4.46e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 171771378 2278422 NA20431_36_chr19_46537598 4.46e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 203757598 2278422 BUSHMAN-chr19-46537597 4.46e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 208401584 2278422 BCM_CMT_1011-3091441 4.46e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 228145045 2278422 pilot_1_YRI_9954728_chr19_46537598 4.46e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 237681363 2278422 pilot_1_CEU_7285992_chr19_46537598 4.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 243886494 2278422 pilot_1_CHB+JPT_5771571_chr19_46537598 4.46e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 BL 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 255683528 2278422 SNP52637_19_46537598 4.46e-01 2010.08.20 2010.08.20 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 283213918 2278422 GMI_AK_SNP_7534339 4.46e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 479504378 2278422 HumanOmni2.5-4v1_D_kgp10944911-0_T_R_1816042185 4.46e-01 2012.01.30 2012.01.30 2001.09.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845758C>G;NG_013364.1:g.19074G>C;NM_000660.4:c.860+2030G>C 483829764 2278422 HumanOmni2.5-4v1_B_SNP19-46537598-0_B_R_1613156722 4.46e-01 2012.02.03 2012.02.03 2001.09.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 15356566 11466338 IIPGA-TGFB1_16491 5.54e-02 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 65774984 11466338 Human1-rs11466338 5.54e-02 2006.10.10 2006.10.10 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 74884662 11466338 ILMN_Human_1M_rs11466338 5.54e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 119683857 11466338 KHS1807196 5.54e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 159978166 11466338 HumanOmni1-Quad_v1-0_B_rs11466338-128_T_F_1513885495 5.54e-02 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 171254230 11466338 Human1M-Duov3_B_rs11466338-128_T_F_1513885495 5.54e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 203757599 11466338 BUSHMAN-chr19-46537640 5.54e-02 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 228145046 11466338 pilot_1_YRI_9954729_chr19_46537641 5.54e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 237681364 11466338 pilot_1_CEU_7285993_chr19_46537641 5.54e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 410893331 11466338 Cardio-Metabo_Chip_11395247_A_rs11466338 5.54e-02 2011.06.07 2011.06.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 479520571 11466338 HumanOmni2.5-4v1_B_rs11466338-128_T_F_1616866644 5.54e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 479524408 11466338 HumanOmniExpress-12v1_C_rs11466338-131_T_F_1862855323 5.54e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 479978472 11466338 HumanOmni1-Quad_v1-0_C_rs11466338-131_T_F_1862855323 5.54e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845801T>C;NG_013364.1:g.19031A>G;NM_000660.4:c.860+1987A>G 484559414 11466338 HumanOmni2.5-4v1_D_rs11466338-131_T_F_1862855323 5.54e-02 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845829delA;NG_013364.1:g.19003delT;NM_000660.4:c.860+1959delT 499582400 200419705 20110316_indels_chr19_41845828_41845828 2.56e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 12467708 8110090 chr19.NT_011109.15_14114090 6.32e-02 2003.07.04 2004.08.05 2003.07.11 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 15356565 8110090 IIPGA-TGFB1_16420 6.32e-02 2003.11.14 2004.04.07 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 66547566 8110090 HumanHap300v1.1_rs8110090 6.32e-02 2006.11.09 2006.11.09 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 67872900 8110090 HumanHap550v1.1_rs8110090 6.32e-02 2006.11.14 2006.11.14 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 68017199 8110090 HumanHap650Yv1.0_rs8110090 6.32e-02 2006.11.15 2006.11.15 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 70971081 8110090 HumanHap550v3.0__rs8110090 6.32e-02 2007.04.20 2008.03.31 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 71581829 8110090 HumanHap650Yv3.0_rs8110090 6.32e-02 2007.04.23 2007.04.23 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 75676017 8110090 ILMN_Human_1M_rs8110090 6.32e-02 2007.08.29 2007.08.29 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 79281810 8110090 HumanHap300v2.0_rs8110090 6.32e-02 2007.11.18 2007.11.18 2003.07.11 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 84788259 8110090 KHS810138 6.32e-02 2007.12.08 2007.12.08 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 122904797 8110090 HumanCNV370v1_C_rs8110090 6.32e-02 2009.04.15 2009.04.15 2003.07.11 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 139731751 8110090 ENSSNP3576060 6.32e-02 2009.05.19 2009.10.16 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 154469779 8110090 Human610_Quadv1_B_rs8110090-128_B_R_1501901132 6.32e-02 2009.06.20 2009.06.20 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 159644283 8110090 Human660W-Quad_v1_A_rs8110090-128_B_R_1501901132 6.32e-02 2009.07.07 2009.07.07 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 172400015 8110090 HumanCNV370-Quadv3_C_rs8110090-128_B_R_1501901132 6.32e-02 2009.10.02 2009.10.04 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 174722826 8110090 Human1M-Duov3_B_rs8110090-128_B_R_1501901132 6.32e-02 2009.10.05 2009.10.05 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 211965413 8110090 YRI.trio.3.2010_1441631_chr19_46537712 6.32e-02 2010.03.31 2010.03.31 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 228145047 8110090 pilot_1_YRI_9954730_chr19_46537712 6.32e-02 2010.04.22 2010.04.22 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 237681365 8110090 pilot_1_CEU_7285994_chr19_46537712 6.32e-02 2010.05.01 2010.05.01 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 244312582 8110090 CVDSNP55v1_A_rs8110090 6.32e-02 2010.06.10 2010.06.10 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 410954823 8110090 Cardio-Metabo_Chip_11395247_A_rs8110090 6.32e-02 2011.06.08 2011.06.08 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 483266383 8110090 HumanOmni2.5-4v1_D_kgp3953672-0_B_R_1816425560 6.32e-02 2012.02.02 2012.02.02 2003.07.11 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41845872A>G;NG_013364.1:g.18960T>C;NM_000660.4:c.860+1916T>C 483829766 8110090 HumanOmni2.5-4v1_B_SNP19-46537712-0_B_R_1628644160 6.32e-02 2012.02.03 2012.02.03 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41845917A>G;NG_013364.1:g.18915T>C;NM_000660.4:c.860+1871T>C 228145048 79225164 pilot_1_YRI_9954731_chr19_46537757 3.20e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41845940T>C;NG_013364.1:g.18892A>G;NM_000660.4:c.860+1848A>G 465598976 191214251 20101123_snps_11766206_chr19_41845940 0 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41846153_41846160delTTTCTTTT;NG_013364.1:g.18672_18679delAAAAGAAA;NM_000660.4:c.860+1628_860+1635delAAAAGAAA 328033679 150938905 CEU_chr19_46537992_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 TSC-CSHL 7040 NC_000019.9:g.41846157_41846164delTTTTTTTT;NG_013364.1:g.18668_18675delAAAAAAAA;NM_000660.4:c.860+1624_860+1631delAAAAAAAA 4292503 3061188 TSC1365666 2001.11.09 2003.10.10 2002.01.05 2011.07.08 137 HGSV 7040 NC_000019.9:g.41846157_41846164delTTTTTTTT;NG_013364.1:g.18668_18675delAAAAAAAA;NM_000660.4:c.860+1624_860+1631delAAAAAAAA 81585160 3061188 Cor18555_DIV_20070510.chr19_46538012-46538021_1 2007.11.30 2007.11.30 2002.01.05 2011.07.08 137 SSAHASNP 7040 NC_000019.9:g.41846178T>C;NG_013364.1:g.18654A>G;NM_000660.4:c.860+1610A>G 21539250 12980944 WGSA-200403-chr19.chr19.NT_011109.15_14114396 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41846157delT;NC_000019.9:g.41846157delTinsTTT;NG_013364.1:g.18675delA;NG_013364.1:g.18675delAinsAAA;NM_000660.4:c.860+1631delA;NM_000660.4:c.860+1631delAinsAAA 95729053 71179698 1104685412621 2008.03.23 2008.12.03 2009.02.13 2012.12.04 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41846183A>T;NG_013364.1:g.18649T>A;NM_000660.4:c.860+1605T>A 168214367 73045292 NA07022_36_chr19_46538023 4.95e-02 2009.09.30 2009.09.30 2009.02.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41846183A>T;NG_013364.1:g.18649T>A;NM_000660.4:c.860+1605T>A 237681366 73045292 pilot_1_CEU_7285995_chr19_46538023 4.95e-02 2010.05.01 2010.05.01 2009.02.14 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41846200T>C;NG_013364.1:g.18632A>G;NM_000660.4:c.860+1588A>G 168214378 76206979 NA07022_36_chr19_46538040 5.27e-02 2009.09.30 2009.09.30 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41846200T>C;NG_013364.1:g.18632A>G;NM_000660.4:c.860+1588A>G 210946918 76206979 CEU.trio.3.2010_162720_chr19_46538040 5.27e-02 2010.03.29 2010.03.29 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41846200T>C;NG_013364.1:g.18632A>G;NM_000660.4:c.860+1588A>G 211965415 76206979 YRI.trio.3.2010_1441632_chr19_46538040 5.27e-02 2010.03.31 2010.03.31 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41846200T>C;NG_013364.1:g.18632A>G;NM_000660.4:c.860+1588A>G 228145049 76206979 pilot_1_YRI_9954732_chr19_46538040 5.27e-02 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41846200T>C;NG_013364.1:g.18632A>G;NM_000660.4:c.860+1588A>G 237681367 76206979 pilot_1_CEU_7285996_chr19_46538040 5.27e-02 2010.05.01 2010.05.01 2009.12.01 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41846207G>C;NG_013364.1:g.18625C>G;NM_000660.4:c.860+1581C>G 21535353 12979815 WGSA-200403-chr19.chr19.NT_011109.15_14114425 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41846210G>A;NG_013364.1:g.18622C>T;NM_000660.4:c.860+1578C>T 465598977 183168204 20101123_snps_11766207_chr19_41846210 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41846222C>T;NG_013364.1:g.18610G>A;NM_000660.4:c.860+1566G>A 340469728 143397998 20100804_snps_12113269_chr19_41846222 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41846248A>C;NG_013364.1:g.18584T>G;NM_000660.4:c.860+1540T>G 15356564 11466337 IIPGA-TGFB1_16044 2003.11.14 2004.04.07 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41846290C>G;NG_013364.1:g.18542G>C;NM_000660.4:c.860+1498G>C 465598978 187658608 20101123_snps_11766208_chr19_41846290 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41846418C>G;NG_013364.1:g.18414G>C;NM_000660.4:c.860+1370G>C 15356563 11466336 IIPGA-TGFB1_15874 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41846574T>G;NG_013364.1:g.18258A>C;NM_000660.4:c.860+1214A>C 15356562 11466335 IIPGA-TGFB1_15718 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41846625C>T;NG_013364.1:g.18207G>A;NM_000660.4:c.860+1163G>A 228145050 114524815 pilot_1_YRI_9954733_chr19_46538465 6.90e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41846824C>A;NG_013364.1:g.18008G>T;NM_000660.4:c.860+964G>T 465598979 191574148 20101123_snps_11766209_chr19_41846824 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41846874A>C;NG_013364.1:g.17958T>G;NM_000660.4:c.860+914T>G 340469729 148343989 20100804_snps_12113270_chr19_41846874 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41846881A>C;NG_013364.1:g.17951T>G;NM_000660.4:c.860+907T>G 203757600 111268243 BUSHMAN-chr19-46538720 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41846963G>A;NG_013364.1:g.17869C>T;NM_000660.4:c.860+825C>T 465598980 182192389 20101123_snps_11766210_chr19_41846963 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 GMI 7040 NC_000019.9:g.41847370T>A;NG_013364.1:g.17462A>T;NM_000660.4:c.860+418A>T 283213919 201968270 GMI_AK_SNP_7534340 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 GMI 7040 NC_000019.9:g.41847371C>A;NG_013364.1:g.17461G>T;NM_000660.4:c.860+417G>T 283213920 199865860 GMI_AK_SNP_7534341 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 DEVINE_LAB 7040 NC_000019.9:g.41847372_41847373insAAAAA;NG_013364.1:g.17459_17460insTTTTT;NM_000660.4:c.860+415_860+416insTTTTT 99389719 71667623 INDEL_GP36_2007a_572814_0 2008.05.05 2008.05.05 2009.02.13 2011.07.08 137 ABI 7040 NC_000019.9:g.41847396A>G;NG_013364.1:g.17436T>C;NM_000660.4:c.860+392T>C 41025518 34368921 hCV33846222 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 GMI 7040 NC_000019.9:g.41847397G>A;NG_013364.1:g.17435C>T;NM_000660.4:c.860+391C>T 155910765 80070819 GMI_SNP_515883910 2009.06.24 2009.06.24 2009.12.01 2012.11.28 137 GMI 7040 NC_000019.9:g.41847397G>A;NG_013364.1:g.17435C>T;NM_000660.4:c.860+391C>T 283213921 80070819 GMI_AK_SNP_7534342 2010.12.16 2010.12.16 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41847481A>G;NG_013364.1:g.17351T>C;NM_000660.4:c.860+307T>C 340469730 140566053 20100804_snps_12113271_chr19_41847481 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41847611delG;NG_013364.1:g.17221delC;NM_000660.4:c.860+177delC 96281429 71334982 1103691147395 2008.03.26 2008.03.26 2009.02.13 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41847622C>G;NG_013364.1:g.17210G>C;NM_000660.4:c.860+166G>C 243886495 118065340 pilot_1_CHB+JPT_5771572_chr19_46539462 4.10e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41847623C>G;NG_013364.1:g.17209G>C;NM_000660.4:c.860+165G>C 203757601 112163437 BUSHMAN-chr19-46539462 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 CLINSEQ_SNP 7040 NC_000019.9:g.41847723C>T;NG_013364.1:g.17109G>A;NM_000660.4:c.860+65G>A 491767920 200815055 SNV-chr19-46539563 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 15356561 11466334 IIPGA-TGFB1_14555 2.20e-02 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 75043242 11466334 ILMN_Human_1M_rs11466334 2.20e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 119683856 11466334 KHS1807195 2.20e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 159978165 11466334 HumanOmni1-Quad_v1-0_B_rs11466334-128_T_R_1513986568 2.20e-02 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 171254220 11466334 Human1M-Duov3_B_rs11466334-128_T_R_1513986568 2.20e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 228145051 11466334 pilot_1_YRI_9954734_chr19_46539577 2.20e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 244272493 11466334 CVDSNP55v1_A_rs11466334 2.20e-02 2010.06.10 2010.06.10 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 479520567 11466334 HumanOmni2.5-4v1_B_rs11466334-128_T_R_1630063557 2.20e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 479524404 11466334 HumanOmniExpress-12v1_C_rs11466334-131_T_R_1853258044 2.20e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 479978468 11466334 HumanOmni1-Quad_v1-0_C_rs11466334-131_T_R_1865399747 2.20e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847737G>A;NG_013364.1:g.17095C>T;NM_000660.4:c.860+51C>T 484559413 11466334 HumanOmni2.5-4v1_D_rs11466334-131_T_R_1853258044 2.20e-02 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847749C>G;NG_013364.1:g.17083G>C;NM_000660.4:c.860+39G>C 491256344 201842373 chr19_46539589 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41847770C>G;NG_013364.1:g.17062G>C;NM_000660.4:c.860+18G>C 465598981 188080621 20101123_snps_11766211_chr19_41847770 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41847770C>G;NG_013364.1:g.17062G>C;NM_000660.4:c.860+18G>C 491159827 188080621 20110521_exome_667625_chr19_41847770 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847770C>G;NG_013364.1:g.17062G>C;NM_000660.4:c.860+18G>C 491256345 188080621 chr19_46539610 5.00e-04 2012.03.02 2012.03.02 2011.09.17 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847817G>C;NG_013364.1:g.17015C>G;NM_000660.4:c.831C>G;NP_000651.3:p.Arg277= 491256346 201119217 chr19_46539657 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 7040 NC_000019.9:g.41847829G>A;NG_013364.1:g.17003C>T;NM_000660.4:c.819C>T;NP_000651.3:p.Ser273= 342499252 141484614 ESP2500-chr19-41847829 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41847840G>A;NG_013364.1:g.16992C>T;NM_000660.4:c.808C>T;NP_000651.3:p.His270Tyr 491256347 201948484 chr19_46539680 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41847856C>T;NG_013364.1:g.16976G>A;NM_000660.4:c.792G>A;NP_000651.3:p.Pro264= 491256348 200558128 chr19_46539696 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 7040 NC_000019.9:g.41847857G>A;NG_013364.1:g.16975C>T;NM_000660.4:c.791C>T;NP_000651.3:p.Pro264Leu 342499253 146182311 ESP2500-chr19-41847857 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847857G>A;NG_013364.1:g.16975C>T;NM_000660.4:c.791C>T;NP_000651.3:p.Pro264Leu 491256349 146182311 chr19_46539697 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 HGBASE 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 2420566 1800472 SNP000003239 1.37e-02 non-pathogenic 2000.11.07 2003.10.10 2000.11.14 2012.12.12 137 SNP500CANCER 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 5606352 1800472 TGFB1-02 1.37e-02 non-pathogenic 2003.05.29 2004.04.07 2000.11.14 2012.12.12 137 CUORCGL 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 12568593 1800472 SNP26 1.37e-02 non-pathogenic 2003.07.08 2003.10.10 2000.11.14 2012.12.12 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 15356560 1800472 IIPGA-TGFB1_14432 1.37e-02 non-pathogenic 2003.11.14 2004.04.07 2000.11.14 2012.12.12 137 SEQUENOM 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 24796585 1800472 sqnm141598 1.37e-02 non-pathogenic 2004.06.18 2004.06.18 2000.11.14 2012.12.12 137 APPLERA_GI 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 48420194 1800472 hCV8708464 1.37e-02 non-pathogenic 2005.11.30 2006.11.03 2000.11.14 2012.12.12 137 PERLEGEN 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 69228625 1800472 PGP04184508 1.37e-02 non-pathogenic 2007.01.30 2007.08.14 2000.11.14 2012.12.12 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 69364814 1800472 PS205155_PA137118504_101 1.37e-02 non-pathogenic 2007.03.22 2007.08.14 2000.11.14 2012.12.12 137 SHGC 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 71640516 1800472 1985 1.37e-02 non-pathogenic 2007.04.27 2007.04.27 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 74877886 1800472 ILMN_Human_1M_rs1800472 1.37e-02 non-pathogenic 2007.08.29 2007.08.29 2000.11.14 2012.12.12 137 CGM_KYOTO 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 76869538 1800472 12003 1.37e-02 non-pathogenic 2007.09.12 2007.09.12 2000.11.14 2012.12.12 137 CNG 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 95213143 1800472 19132723 1.37e-02 non-pathogenic 2008.03.13 2008.03.13 2000.11.14 2012.12.12 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 105107321 1800472 PS205143_PA136362398_101 1.37e-02 non-pathogenic 2008.07.23 2008.07.23 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 160462842 1800472 HumanOmni1-Quad_v1-0_B_rs1800472-128_B_F_1513892809 1.37e-02 non-pathogenic 2009.08.06 2009.10.02 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 172924762 1800472 Human1M-Duov3_B_rs1800472-128_B_F_1513892809 1.37e-02 non-pathogenic 2009.10.02 2009.10.02 2000.11.14 2012.12.12 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 208439376 1800472 BCM_CMT_1011-3103949 1.37e-02 non-pathogenic 2010.03.19 2010.03.19 2000.11.14 2012.12.12 137 1000GENOMES 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 237681369 1800472 pilot_1_CEU_7285998_chr19_46539700 1.37e-02 non-pathogenic 2010.05.01 2010.05.01 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 244285021 1800472 CVDSNP55v1_A_rs1800472 1.37e-02 non-pathogenic 2010.06.10 2010.06.10 2000.11.14 2012.12.12 137 RSG_JCVI 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 262867467 1800472 TGFB1-011953_011954-A_G 1.37e-02 non-pathogenic 2010.09.24 2010.09.24 2000.11.14 2012.12.12 137 NHLBI-ESP 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 342499254 1800472 ESP2500-chr19-41847860 1.37e-02 non-pathogenic 2011.03.27 2011.03.27 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 480300470 1800472 HumanOmni2.5-4v1_B_rs1800472-128_B_F_1779402135 1.37e-02 non-pathogenic 2012.01.31 2012.01.31 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 480311573 1800472 HumanOmniExpress-12v1_C_rs1800472-131_B_F_1852928604 1.37e-02 non-pathogenic 2012.01.31 2012.01.31 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 481067158 1800472 HumanOmni1-Quad_v1-0_C_rs1800472-131_B_F_1852928604 1.37e-02 non-pathogenic 2012.01.31 2012.01.31 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 484948048 1800472 HumanOmni2.5-4v1_D_rs1800472-131_B_F_1852928604 1.37e-02 non-pathogenic 2012.02.04 2012.02.04 2000.11.14 2012.12.12 137 1000GENOMES 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 491159828 1800472 20110521_exome_667626_chr19_41847860 1.37e-02 non-pathogenic 2012.02.22 2012.02.22 2000.11.14 2012.12.12 137 GSK-GENETICS 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 491256350 1800472 chr19_46539700 1.37e-02 non-pathogenic 2012.03.02 2012.03.02 2000.11.14 2012.12.12 137 EXOME_CHIP 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 491547790 1800472 nonsyn_264016_chr_19_41847860 1.37e-02 non-pathogenic 2012.03.06 2012.03.06 2000.11.14 2012.12.12 137 CLINSEQ_SNP 7040 NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 491767921 1800472 SNV-chr19-46539700 1.37e-02 non-pathogenic 2012.03.07 2012.03.13 2000.11.14 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.788C>T NC_000019.9:g.41847860G>A;NG_013364.1:g.16972C>T;NM_000660.4:c.788C>T;NP_000651.3:p.Thr263Ile 647514678 1800472 NM_000660.4:c.788C>T 1.37e-02 non-pathogenic 2012.12.12 2012.12.12 2000.11.14 2012.12.12 137 NHLBI-ESP 7040 NC_000019.9:g.41847884C>T;NG_013364.1:g.16948G>A;NM_000660.4:c.764G>A;NP_000651.3:p.Arg255Gln 342499255 149900977 ESP2500-chr19-41847884 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847884C>T;NG_013364.1:g.16948G>A;NM_000660.4:c.764G>A;NP_000651.3:p.Arg255Gln 491256351 149900977 chr19_46539724 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 ABI 7040 NC_000019.9:g.41847916_41847917insA;NG_013364.1:g.16915_16916insT;NM_000660.4:c.731_732insT;NP_000651.3:p.Arg244delinsArgArgfs 40997463 34233206 hCV33846223 2005.07.17 2005.07.17 2006.03.13 2011.07.08 137 APPLERA_GI 7040 NC_000019.9:g.41847925G>A;NC_000019.9:g.41847925G>T;NG_013364.1:g.16907C>A;NG_013364.1:g.16907C>T;NM_000660.4:c.723C>A;NM_000660.4:c.723C>T;NP_000651.3:p.Thr241= 48420193 35383147 hCV25600783 2005.11.30 2005.11.30 2006.03.15 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847925G>A;NC_000019.9:g.41847925G>T;NG_013364.1:g.16907C>A;NG_013364.1:g.16907C>T;NM_000660.4:c.723C>A;NM_000660.4:c.723C>T;NP_000651.3:p.Thr241= 160626727 35383147 HumanOmni1-Quad_v1-0_B_rs35383147-128_T_R_1562485897 2009.08.06 2009.10.04 2006.03.15 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847925G>A;NC_000019.9:g.41847925G>T;NG_013364.1:g.16907C>A;NG_013364.1:g.16907C>T;NM_000660.4:c.723C>A;NM_000660.4:c.723C>T;NP_000651.3:p.Thr241= 481721670 35383147 HumanOmni1-Quad_v1-0_C_rs35383147-131_T_R_1858954788 2012.02.01 2012.02.01 2006.03.15 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847925G>A;NC_000019.9:g.41847925G>T;NG_013364.1:g.16907C>A;NG_013364.1:g.16907C>T;NM_000660.4:c.723C>A;NM_000660.4:c.723C>T;NP_000651.3:p.Thr241= 491256352 35383147 chr19_46539765 2012.03.02 2012.03.02 2006.03.15 2012.11.28 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41847926G>A;NG_013364.1:g.16906C>T;NM_000660.4:c.722C>T;NP_000651.3:p.Thr241Ile 102661420 72480424 TGFB1_T241I 2008.05.22 2008.05.22 2009.02.14 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41847926G>A;NG_013364.1:g.16906C>T;NM_000660.4:c.722C>T;NP_000651.3:p.Thr241Ile 342499256 72480424 ESP2500-chr19-41847926 2011.03.27 2011.03.27 2009.02.14 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847926G>A;NG_013364.1:g.16906C>T;NM_000660.4:c.722C>T;NP_000651.3:p.Thr241Ile 491256353 72480424 chr19_46539766 2012.03.02 2012.03.02 2009.02.14 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41847930T>G;NG_013364.1:g.16902A>C;NM_000660.4:c.718A>C;NP_000651.3:p.Thr240Pro 342499257 148552731 ESP2500-chr19-41847930 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847930T>G;NG_013364.1:g.16902A>C;NM_000660.4:c.718A>C;NP_000651.3:p.Thr240Pro 491256354 148552731 chr19_46539770 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41847937T>A;NC_000019.9:g.41847937T>G;NG_013364.1:g.16895A>C;NG_013364.1:g.16895A>T;NM_000660.4:c.713-2A>C;NM_000660.4:c.713-2A>T 169118505 112108984 Human1M-Duov3_B_GA034634-0_T_R_1533481543 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 7040 NC_000019.9:g.41847937T>A;NC_000019.9:g.41847937T>G;NG_013364.1:g.16895A>C;NG_013364.1:g.16895A>T;NM_000660.4:c.713-2A>C;NM_000660.4:c.713-2A>T 203757602 112108984 BUSHMAN-chr19-46539776 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41847942T>C;NG_013364.1:g.16890A>G;NM_000660.4:c.713-7A>G 102661425 72480428 TGFB1_713-7A-->G 2008.05.22 2008.05.22 2009.02.14 2011.09.09 137 CUORCGL 7040 NC_000019.9:g.41847943_41847944delGG;NC_000019.9:g.41847943_41847944delGGinsG;NG_013364.1:g.16888_16889delCC;NG_013364.1:g.16888_16889delCCinsC;NM_000660.4:c.713-9_713-8delCC;NM_000660.4:c.713-9_713-8delCCinsC 12568603 8179182 SNP28 2003.07.08 2006.10.25 2003.08.27 2011.07.08 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41847943G>T;NG_013364.1:g.16889C>A;NM_000660.4:c.713-8C>A 69367815 28365167 PS205524_PA144957761_101 2007.03.22 2008.03.31 2005.05.24 2013.01.17 137 CGM_KYOTO 7040 NC_000019.9:g.41847943delG;NG_013364.1:g.16889delC;NM_000660.4:c.713-8delC 76875470 55659002 717783 2007.09.12 2007.09.12 2007.12.06 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41847943delG;NG_013364.1:g.16889delC;NM_000660.4:c.713-8delC 262867468 55659002 TGFB1-012037_012038-D_G 2010.09.24 2010.09.24 2007.12.06 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41847943delG;NG_013364.1:g.16889delC;NM_000660.4:c.713-8delC 328033680 55659002 CEU_chr19_46539782_indel 2011.03.13 2011.04.03 2007.12.06 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847943G>T;NG_013364.1:g.16889C>A;NM_000660.4:c.713-8C>A 491256355 28365167 chr19_46539783 2012.03.02 2012.03.02 2005.05.24 2013.01.17 137 1000GENOMES 7040 NC_000019.9:g.41847943delG;NG_013364.1:g.16889delC;NM_000660.4:c.713-8delC 499582404 55659002 20110316_indels_chr19_41847942_41847942 2012.03.20 2012.03.20 2007.12.06 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847961T>A;NG_013364.1:g.16871A>T;NM_000660.4:c.713-26A>T 491256356 199803251 chr19_46539801 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41847970T>C;NG_013364.1:g.16862A>G;NM_000660.4:c.713-35A>G 262867469 139080695 TGFB1-012063_012064-C_T 2010.09.24 2010.09.24 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41847970T>C;NG_013364.1:g.16862A>G;NM_000660.4:c.713-35A>G 491256357 139080695 chr19_46539810 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41848021A>G;NG_013364.1:g.16811T>C;NM_000660.4:c.712+54T>C 262867470 149913582 TGFB1-012114_012115-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41848030C>T;NG_013364.1:g.16802G>A;NM_000660.4:c.712+45G>A 102661424 72480427 TGFB1_712+45G-->A 2008.05.22 2008.05.22 2009.02.14 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41848030C>T;NG_013364.1:g.16802G>A;NM_000660.4:c.712+45G>A 491256358 72480427 chr19_46539870 2012.03.02 2012.03.02 2009.02.14 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41848033A>G;NG_013364.1:g.16799T>C;NM_000660.4:c.712+42T>C 491256359 200004228 chr19_46539873 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848034C>G;NG_013364.1:g.16798G>C;NM_000660.4:c.712+41G>C 491256360 200772438 chr19_46539874 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848037A>G;NG_013364.1:g.16795T>C;NM_000660.4:c.712+38T>C 491256361 201676908 chr19_46539877 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848038C>T;NG_013364.1:g.16794G>A;NM_000660.4:c.712+37G>A 491256362 200134934 chr19_46539878 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41848052A>G;NG_013364.1:g.16780T>C;NM_000660.4:c.712+23T>C 262867471 145308851 TGFB1-012145_012146-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41848057C>T;NG_013364.1:g.16775G>A;NM_000660.4:c.712+18G>A 491256363 201098266 chr19_46539897 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 ILLUMINA 7040 NC_000019.9:g.41848072C>A;NC_000019.9:g.41848072C>G;NG_013364.1:g.16760G>C;NG_013364.1:g.16760G>T;NM_000660.4:c.712+3G>C;NM_000660.4:c.712+3G>T 169118519 111781417 Human1M-Duov3_B_GA034635-0_B_R_1533477442 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 7040 NC_000019.9:g.41848072C>A;NC_000019.9:g.41848072C>G;NG_013364.1:g.16760G>C;NG_013364.1:g.16760G>T;NM_000660.4:c.712+3G>C;NM_000660.4:c.712+3G>T 203757603 111781417 BUSHMAN-chr19-46539911 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 ILLUMINA 7040 NC_000019.9:g.41848073A>C;NC_000019.9:g.41848073A>T;NG_013364.1:g.16759T>A;NG_013364.1:g.16759T>G;NM_000660.4:c.712+2T>A;NM_000660.4:c.712+2T>G 168989703 111878419 Human1M-Duov3_B_GA016413-0_B_R_1533441844 2009.10.01 2009.10.01 2010.07.04 2012.05.16 137 BUSHMAN 7040 NC_000019.9:g.41848073A>C;NC_000019.9:g.41848073A>T;NG_013364.1:g.16759T>A;NG_013364.1:g.16759T>G;NM_000660.4:c.712+2T>A;NM_000660.4:c.712+2T>G 203757604 111878419 BUSHMAN-chr19-46539912 2010.03.09 2010.03.09 2010.07.04 2012.05.16 137 GSK-GENETICS 7040 NC_000019.9:g.41848085C>T;NG_013364.1:g.16747G>A;NM_000660.4:c.702G>A;NP_000651.3:p.Val234= 491256364 202184772 chr19_46539925 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848093G>A;NG_013364.1:g.16739C>T;NM_000660.4:c.694C>T;NP_000651.3:p.Leu232= 491256365 200317548 chr19_46539933 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848107C>T;NG_013364.1:g.16725G>A;NM_000660.4:c.680G>A;NP_000651.3:p.Ser227Asn 491256366 201772874 chr19_46539947 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848111C>T;NG_013364.1:g.16721G>A;NM_000660.4:c.676G>A;NP_000651.3:p.Asp226Asn 491256367 202088345 chr19_46539951 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 OMICIA 7040 NC_000019.8:g.46539954A>G NC_000019.9:g.41848114A>G;NG_013364.1:g.16718T>C;NM_000660.4:c.673T>C;NP_000651.3:p.Cys225Arg 244239754 104894719 2010_April_001_104_TGFB1_190180_0001 germline pathogenic 2010.05.27 2012.08.29 2010.05.28 2012.12.12 137 OMIM-CURATED-RECORDS 7040 NP_000651.3:p.CYS225ARG NC_000019.9:g.41848114A>G;NG_013364.1:g.16718T>C;NM_000660.4:c.673T>C;NP_000651.3:p.Cys225Arg 275515927 104894719 5753 germline pathogenic 2010.11.29 2010.11.29 2010.05.28 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.673T>C ARRAY(0x8003adf0) 647514697 104894719 NM_000660.4:c.673T>C germline pathogenic 2012.12.12 2012.12.12 2010.05.28 2012.12.12 137 OMICIA 7040 NC_000019.8:g.46539960A>G NC_000019.9:g.41848120A>C;NC_000019.9:g.41848120A>G;NC_000019.9:g.41848120A>T;NG_013364.1:g.16712T>A;NG_013364.1:g.16712T>C;NG_013364.1:g.16712T>G;NM_000660.4:c.667T>A;NM_000660.4:c.667T>C;NM_000660.4:c.667T>G;NP_000651.3:p.Cys223Arg;NP_000651.3:p.Cys223Gly;NP_000651.3:p.Cys223Ser 244239757 104894722 2010_April_001_108_TGFB1_190180_0005 germline pathogenic 2010.05.27 2012.07.22 2010.05.28 2012.12.12 137 OMICIA 7040 NC_000019.8:g.46539960A>C NC_000019.9:g.41848120A>C;NC_000019.9:g.41848120A>G;NC_000019.9:g.41848120A>T;NG_013364.1:g.16712T>A;NG_013364.1:g.16712T>C;NG_013364.1:g.16712T>G;NM_000660.4:c.667T>A;NM_000660.4:c.667T>C;NM_000660.4:c.667T>G;NP_000651.3:p.Cys223Arg;NP_000651.3:p.Cys223Gly;NP_000651.3:p.Cys223Ser 244239758 104894722 2010_April_001_109_TGFB1_190180_0006 germline pathogenic 2010.05.27 2012.07.22 2010.05.28 2012.12.12 137 OMIM-CURATED-RECORDS 7040 NP_000651.3:p.CYS223ARG NC_000019.9:g.41848120A>C;NC_000019.9:g.41848120A>G;NC_000019.9:g.41848120A>T;NG_013364.1:g.16712T>A;NG_013364.1:g.16712T>C;NG_013364.1:g.16712T>G;NM_000660.4:c.667T>A;NM_000660.4:c.667T>C;NM_000660.4:c.667T>G;NP_000651.3:p.Cys223Arg;NP_000651.3:p.Cys223Gly;NP_000651.3:p.Cys223Ser 275515931 104894722 5757 germline pathogenic 2010.11.29 2010.11.29 2010.05.28 2012.12.12 137 OMIM-CURATED-RECORDS 7040 NP_000651.3:p.CYS223GLY NC_000019.9:g.41848120A>C;NC_000019.9:g.41848120A>G;NC_000019.9:g.41848120A>T;NG_013364.1:g.16712T>A;NG_013364.1:g.16712T>C;NG_013364.1:g.16712T>G;NM_000660.4:c.667T>A;NM_000660.4:c.667T>C;NM_000660.4:c.667T>G;NP_000651.3:p.Cys223Arg;NP_000651.3:p.Cys223Gly;NP_000651.3:p.Cys223Ser 275515932 104894722 5758 germline pathogenic 2010.11.29 2010.11.29 2010.05.28 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.667T>A NC_000019.9:g.41848120A>C;NC_000019.9:g.41848120A>G;NC_000019.9:g.41848120A>T;NG_013364.1:g.16712T>A;NG_013364.1:g.16712T>C;NG_013364.1:g.16712T>G;NM_000660.4:c.667T>A;NM_000660.4:c.667T>C;NM_000660.4:c.667T>G;NP_000651.3:p.Cys223Arg;NP_000651.3:p.Cys223Gly;NP_000651.3:p.Cys223Ser 647514694 104894722 NM_000660.4:c.667T>A germline pathogenic 2012.12.12 2012.12.12 2010.05.28 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.667T>C NC_000019.9:g.41848120A>C;NC_000019.9:g.41848120A>G;NC_000019.9:g.41848120A>T;NG_013364.1:g.16712T>A;NG_013364.1:g.16712T>C;NG_013364.1:g.16712T>G;NM_000660.4:c.667T>A;NM_000660.4:c.667T>C;NM_000660.4:c.667T>G;NP_000651.3:p.Cys223Arg;NP_000651.3:p.Cys223Gly;NP_000651.3:p.Cys223Ser 647514695 104894722 NM_000660.4:c.667T>C germline pathogenic 2012.12.12 2012.12.12 2010.05.28 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.667T>G NC_000019.9:g.41848120A>C;NC_000019.9:g.41848120A>G;NC_000019.9:g.41848120A>T;NG_013364.1:g.16712T>A;NG_013364.1:g.16712T>C;NG_013364.1:g.16712T>G;NM_000660.4:c.667T>A;NM_000660.4:c.667T>C;NM_000660.4:c.667T>G;NP_000651.3:p.Cys223Arg;NP_000651.3:p.Cys223Gly;NP_000651.3:p.Cys223Ser 647514696 104894722 NM_000660.4:c.667T>G germline pathogenic 2012.12.12 2012.12.12 2010.05.28 2012.12.12 137 GSK-GENETICS 7040 NC_000019.9:g.41848121G>A;NG_013364.1:g.16711C>T;NM_000660.4:c.666C>T;NP_000651.3:p.His222= 491256368 200351572 chr19_46539961 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848126C>T;NG_013364.1:g.16706G>A;NM_000660.4:c.661G>A;NP_000651.3:p.Ala221Thr 491256369 201327622 chr19_46539966 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 OMICIA 7040 NC_000019.8:g.46539974C>T NC_000019.9:g.41848134C>T;NG_013364.1:g.16698G>A;NM_000660.4:c.653G>A;NP_000651.3:p.Arg218His 244239760 104894720 2010_April_001_105_TGFB1_190180_0002 germline pathogenic 2010.05.27 2012.08.29 2010.05.28 2012.12.12 137 OMIM-CURATED-RECORDS 7040 NP_000651.3:p.ARG218HIS NC_000019.9:g.41848134C>T;NG_013364.1:g.16698G>A;NM_000660.4:c.653G>A;NP_000651.3:p.Arg218His 275515928 104894720 5754 germline pathogenic 2010.11.29 2010.11.29 2010.05.28 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.653G>A NC_000019.9:g.41848134C>T;NG_013364.1:g.16698G>A;NM_000660.4:c.653G>A;NP_000651.3:p.Arg218His 647514692 104894720 NM_000660.4:c.653G>A germline pathogenic 2012.12.12 2012.12.12 2010.05.28 2012.12.12 137 OMICIA 7040 NC_000019.8:g.46539975G>A NC_000019.9:g.41848135G>A;NG_013364.1:g.16697C>T;NM_000660.4:c.652C>T;NP_000651.3:p.Arg218Cys 244239761 104894721 2010_April_001_106_TGFB1_190180_0003 germline pathogenic 2010.05.27 2012.08.29 2010.05.28 2012.12.12 137 OMIM-CURATED-RECORDS 7040 NP_000651.3:p.ARG218CYS NC_000019.9:g.41848135G>A;NG_013364.1:g.16697C>T;NM_000660.4:c.652C>T;NP_000651.3:p.Arg218Cys 275515929 104894721 5755 germline pathogenic 2010.11.29 2010.11.29 2010.05.28 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.652C>T NC_000019.9:g.41848135G>A;NG_013364.1:g.16697C>T;NM_000660.4:c.652C>T;NP_000651.3:p.Arg218Cys 647514691 104894721 NM_000660.4:c.652C>T germline pathogenic 2012.12.12 2012.12.12 2010.05.28 2012.12.12 137 RSG_JCVI 7040 NC_000019.9:g.41848138A>G;NG_013364.1:g.16694T>C;NM_000660.4:c.649T>C;NP_000651.3:p.Phe217Leu 262867472 141352462 TGFB1-012231_012232-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41848165C>A;NG_013364.1:g.16667G>T;NM_000660.4:c.635-13G>T 491256370 199512217 chr19_46540005 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848172G>A;NG_013364.1:g.16660C>T;NM_000660.4:c.635-20C>T 491256371 200760726 chr19_46540012 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41848176C>G;NG_013364.1:g.16656G>C;NM_000660.4:c.635-24G>C 491256372 201516940 chr19_46540016 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41848193C>T;NG_013364.1:g.16639G>A;NM_000660.4:c.635-41G>A 465598982 192493813 20101123_snps_11766212_chr19_41848193 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848193C>T;NG_013364.1:g.16639G>A;NM_000660.4:c.635-41G>A 491159829 192493813 20110521_exome_667627_chr19_41848193 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 HGSV 7040 NC_000019.9:g.41848296_41848297delTT;NG_013364.1:g.16535_16536delAA;NM_000660.4:c.635-145_635-144delAA 77948731 55678429 Cor12156_DIV_20070510.chr19_46540156-46540159_1 2007.10.16 2007.10.16 2007.12.06 2011.10.06 137 HGSV 7040 NC_000019.9:g.41848296_41848297delTT;NG_013364.1:g.16535_16536delAA;NM_000660.4:c.635-145_635-144delAA 80856978 55678429 Cor12878_DIV_20070510.chr19_46540156-46540159_1 2007.11.27 2007.11.27 2007.12.06 2011.10.06 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41848296_41848297delTT;NG_013364.1:g.16535_16536delAA;NM_000660.4:c.635-145_635-144delAA 95729054 55678429 1104685412622 2008.03.23 2008.12.03 2007.12.06 2011.10.06 137 DEVINE_LAB 7040 NC_000019.9:g.41848296delT;NC_000019.9:g.41848296delTinsTT;NG_013364.1:g.16536delA;NG_013364.1:g.16536delAinsAA;NM_000660.4:c.635-144delA;NM_000660.4:c.635-144delAinsAA 100528162 71959175 INDEL_GP36_2008a_1233888_0 2008.05.16 2008.05.16 2009.02.13 2012.05.11 137 DEVINE_LAB 7040 NC_000019.9:g.41848296delT;NC_000019.9:g.41848296delTinsTT;NG_013364.1:g.16536delA;NG_013364.1:g.16536delAinsAA;NM_000660.4:c.635-144delA;NM_000660.4:c.635-144delAinsAA 100671972 71959175 INDEL_GP36_2008a_998619_0 2008.05.17 2008.05.17 2009.02.13 2012.05.11 137 DEVINE_LAB 7040 NC_000019.9:g.41848296_41848297delTT;NG_013364.1:g.16535_16536delAA;NM_000660.4:c.635-145_635-144delAA 100926273 55678429 INDEL_GP36_2008a_1623859_0 2008.05.17 2008.05.17 2007.12.06 2011.10.06 137 PJP 7040 NC_000019.9:g.41848296_41848297delTT;NG_013364.1:g.16535_16536delAA;NM_000660.4:c.635-145_635-144delAA 294963425 55678429 DIP_401129_chr19_46540157 2011.01.22 2011.01.22 2007.12.06 2011.10.06 137 CSHL-HAPMAP 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 19404662 12461895 CSHL-HuDD-200402.chr19.NT_011109.15_14116565 4.43e-01 2004.02.21 2004.03.04 2004.02.28 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 21540808 12461895 WGSA-200403-chr19.chr19.NT_011109.15_14116565 4.43e-01 2004.03.20 2004.03.20 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 74877908 12461895 ILMN_Human_1M_rs12461895 4.43e-01 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 CGM_KYOTO 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 76869536 12461895 12001 4.43e-01 2007.09.12 2007.09.12 2004.02.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 77268544 12461895 Cor12156_SNV_20070510.chr19_46540187 4.43e-01 2007.10.10 2007.10.12 2004.02.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 78154458 12461895 Cor12878_SNV_20070510.chr19_46540187 4.43e-01 2007.10.18 2007.10.18 2004.02.28 2012.11.28 137 CNG 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 95211468 12461895 29946274 4.43e-01 2008.03.13 2008.03.13 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 96267998 12461895 1103691147396 4.43e-01 2008.03.26 2008.03.26 2004.02.28 2012.11.28 137 BGI 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 106055537 12461895 BGI_rs12461895 4.43e-01 2008.09.13 2009.06.17 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 115149620 12461895 NA19240_2008_12_16_3261264_chr19_46540187 4.43e-01 2008.12.19 2008.12.19 2004.02.28 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 119783347 12461895 KHS1844597 4.43e-01 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 136262377 12461895 ENSSNP1531683 4.43e-01 2009.05.15 2009.10.15 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 155910769 12461895 GMI_SNP_241258840 4.43e-01 2009.06.24 2009.06.24 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 168214388 12461895 NA07022_36_chr19_46540187 4.43e-01 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 169769490 12461895 NA19240_36_chr19_46540187 4.43e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 171771386 12461895 NA20431_36_chr19_46540187 4.43e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 172099134 12461895 Human1M-Duov3_B_rs12461895-128_T_F_1513887802 4.43e-01 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 203757605 12461895 BUSHMAN-chr19-46540186 4.43e-01 2010.03.09 2010.03.09 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 228145052 12461895 pilot_1_YRI_9954735_chr19_46540187 4.43e-01 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 237681370 12461895 pilot_1_CEU_7285999_chr19_46540187 4.43e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 243886496 12461895 pilot_1_CHB+JPT_5771573_chr19_46540187 4.43e-01 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 283213922 12461895 GMI_AK_SNP_7534343 4.43e-01 2010.12.16 2010.12.16 2004.02.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41848347A>C;NG_013364.1:g.16485T>G;NM_000660.4:c.635-195T>G 292179491 12461895 SNP_1685849_chr19_46540187 4.43e-01 2011.01.21 2011.01.21 2004.02.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41848422delT;NC_000019.9:g.41848422delTinsTT;NG_013364.1:g.16410delA;NG_013364.1:g.16410delAinsAA;NM_000660.4:c.635-270delA;NM_000660.4:c.635-270delAinsAA 77948730 55835439 Cor12156_DIV_20070510.chr19_46540275-46540278_1 2007.10.16 2007.10.16 2007.12.06 2012.12.04 137 HGSV 7040 NC_000019.9:g.41848422delT;NC_000019.9:g.41848422delTinsTT;NG_013364.1:g.16410delA;NG_013364.1:g.16410delAinsAA;NM_000660.4:c.635-270delA;NM_000660.4:c.635-270delAinsAA 80856976 55835439 Cor12878_DIV_20070510.chr19_46540275-46540278_1 2007.11.27 2007.11.27 2007.12.06 2012.12.04 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41848422delT;NC_000019.9:g.41848422delTinsTT;NG_013364.1:g.16410delA;NG_013364.1:g.16410delAinsAA;NM_000660.4:c.635-270delA;NM_000660.4:c.635-270delAinsAA 95729055 55835439 1104685412623 2008.03.23 2008.12.03 2007.12.06 2012.12.04 137 PJP 7040 NC_000019.9:g.41848422_41848423delTT;NG_013364.1:g.16409_16410delAA;NM_000660.4:c.635-271_635-270delAA 294963426 145838117 DIP_401130_chr19_46540262 2011.01.22 2011.01.22 2011.05.09 2012.05.11 137 PJP 7040 NC_000019.9:g.41848422_41848423delTT;NG_013364.1:g.16409_16410delAA;NM_000660.4:c.635-271_635-270delAA 294963427 145838117 DIP_401131_chr19_46540276 2011.01.22 2011.01.22 2011.05.09 2012.05.11 137 1000GENOMES 7040 NC_000019.9:g.41848600T>C;NG_013364.1:g.16232A>G;NM_000660.4:c.635-448A>G 465598983 185214444 20101123_snps_11766213_chr19_41848600 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 MPI_MOLGEN 7040 NC_000019.9:g.41848797C>A;NG_013364.1:g.16035G>T;NM_000660.4:c.635-645G>T 469257293 190837988 Chromosome19_46540637 2011.08.15 2011.08.15 2011.09.17 2011.09.17 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41848811C>T;NG_013364.1:g.16021G>A;NM_000660.4:c.635-659G>A 15356559 11466333 IIPGA-TGFB1_13481 3.20e-03 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848811C>T;NG_013364.1:g.16021G>A;NM_000660.4:c.635-659G>A 340469731 11466333 20100804_snps_12113272_chr19_41848811 3.20e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41848834G>A;NG_013364.1:g.15998C>T;NM_000660.4:c.635-682C>T 283213923 200044106 GMI_AK_SNP_7534344 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 BCM_SSAHASNP 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 14713331 10416269 chr19.NT_011109.15_14117066 4.21e-01 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 15356558 10416269 IIPGA-TGFB1_13444 4.21e-01 2003.11.14 2004.04.07 2003.12.05 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 16804983 10416269 CSHL-HuAA-200402.chr19.NT_011109.15_14117066 4.21e-01 2004.02.18 2004.03.04 2003.12.05 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 19406486 10416269 CSHL-HuDD-200402.chr19.NT_011109.15_14117066 4.21e-01 2004.02.21 2004.03.04 2003.12.05 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 21514125 10416269 WGSA-200403-chr19.chr19.NT_011109.15_14117066 4.21e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 96267999 10416269 1103691147397 4.21e-01 2008.03.26 2008.03.26 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 111391299 10416269 CEU.trio.12.15.2008_3619795_chr19_46540688 4.21e-01 2008.12.17 2008.12.17 2003.12.05 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 136262374 10416269 ENSSNP1531684 4.21e-01 2009.05.15 2009.10.15 2003.12.05 2012.11.28 137 GMI 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 155910779 10416269 GMI_SNP_103838430 4.21e-01 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 168214393 10416269 NA07022_36_chr19_46540688 4.21e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 169769504 10416269 NA19240_36_chr19_46540688 4.21e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 171771394 10416269 NA20431_36_chr19_46540688 4.21e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 203757606 10416269 BUSHMAN-chr19-46540687 4.21e-01 2010.03.09 2010.03.09 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 228145053 10416269 pilot_1_YRI_9954736_chr19_46540688 4.21e-01 2010.04.22 2010.04.22 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 237681371 10416269 pilot_1_CEU_7286000_chr19_46540688 4.21e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 243886497 10416269 pilot_1_CHB+JPT_5771574_chr19_46540688 4.21e-01 2010.05.01 2010.05.01 2003.12.05 2012.11.28 137 GMI 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 283213924 10416269 GMI_AK_SNP_7534345 4.21e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 7040 NC_000019.9:g.41848848A>G;NG_013364.1:g.15984T>C;NM_000660.4:c.635-696T>C 292179492 10416269 SNP_1685850_chr19_46540688 4.21e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41848859A>G;NG_013364.1:g.15973T>C;NM_000660.4:c.635-707T>C 228145054 115652066 pilot_1_YRI_9954737_chr19_46540699 8.20e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 BUSHMAN 7040 NC_000019.9:g.41848909C>T;NG_013364.1:g.15923G>A;NM_000660.4:c.635-757G>A 203757607 112172995 BUSHMAN-chr19-46540748 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 CSHL-HAPMAP 7040 NC_000019.9:g.41848938G>T;NG_013364.1:g.15894C>A;NM_000660.4:c.635-786C>A 16805311 11672143 CSHL-HuAA-200402.chr19.NT_011109.15_14117156 2004.02.18 2004.03.04 2004.02.28 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41848956G>A;NG_013364.1:g.15876C>T;NM_000660.4:c.635-804C>T 465598984 190051613 20101123_snps_11766214_chr19_41848956 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 7040 NC_000019.9:g.41848988G>T;NG_013364.1:g.15844C>A;NM_000660.4:c.635-836C>A 41013066 35019416 hCV11707849 2005.07.17 2005.07.17 2006.03.14 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41848988G>T;NG_013364.1:g.15844C>A;NM_000660.4:c.635-836C>A 161879500 35019416 ENSSNP1531685 2009.09.26 2010.03.07 2006.03.14 2011.09.09 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41849045_41849046insT;NG_013364.1:g.15786_15787insA;NM_000660.4:c.635-894_635-893insA 95729056 67233828 1104685412624 2008.03.23 2008.12.03 2009.02.05 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849045_41849046insT;NG_013364.1:g.15786_15787insA;NM_000660.4:c.635-894_635-893insA 100179198 67233828 INDEL_GP36_2008a_1176477_0 2008.05.16 2008.05.16 2009.02.05 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849045_41849046insT;NG_013364.1:g.15786_15787insA;NM_000660.4:c.635-894_635-893insA 100179202 67233828 INDEL_GP36_2008a_1176477_1 2008.05.16 2008.05.16 2009.02.05 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849045_41849046insT;NG_013364.1:g.15786_15787insA;NM_000660.4:c.635-894_635-893insA 100834375 67233828 INDEL_GP36_2008a_1692945_0 2008.05.17 2008.05.17 2009.02.05 2012.11.28 137 PJP 7040 NC_000019.9:g.41849045_41849046insT;NG_013364.1:g.15786_15787insA;NM_000660.4:c.635-894_635-893insA 294963428 67233828 DIP_401132_chr19_46540890 2011.01.22 2011.01.22 2009.02.05 2012.11.28 137 PJP 7040 NC_000019.9:g.41849045_41849046insT;NG_013364.1:g.15786_15787insA;NM_000660.4:c.635-894_635-893insA 294963429 67233828 DIP_401133_chr19_46540891 2011.01.22 2011.01.22 2009.02.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849061C>T;NG_013364.1:g.15771G>A;NM_000660.4:c.635-909G>A 465598985 192746571 20101123_snps_11766215_chr19_41849061 3.70e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41849102C>T;NG_013364.1:g.15730G>A;NM_000660.4:c.635-950G>A 465598986 184743094 20101123_snps_11766216_chr19_41849102 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 WI_SSAHASNP 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 11193450 7408955 chr19.NT_011109.15_14117418 4.57e-01 2003.07.03 2003.10.10 2003.07.11 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 15356557 7408955 IIPGA-TGFB1_13092 4.57e-01 2003.11.14 2004.04.07 2003.07.11 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 16805571 7408955 CSHL-HuAA-200402.chr19.NT_011109.15_14117418 4.57e-01 2004.02.18 2004.03.04 2003.07.11 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 19406890 7408955 CSHL-HuDD-200402.chr19.NT_011109.15_14117418 4.57e-01 2004.02.21 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 21519629 7408955 WGSA-200403-chr19.chr19.NT_011109.15_14117418 4.57e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 86009621 7408955 Cor19129_SNV_20070510.chr19_46541040 4.57e-01 2007.12.10 2007.12.10 2003.07.11 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 90976611 7408955 JWB-1170436 4.57e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 96268000 7408955 1103691147398 4.57e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 BGI 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 106055538 7408955 BGI_rs7408955 4.57e-01 2008.09.13 2009.06.17 2003.07.11 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 136262370 7408955 ENSSNP1531686 4.57e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 GMI 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 155910784 7408955 GMI_SNP_240982799 4.57e-01 2009.06.24 2009.06.24 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 168214407 7408955 NA07022_36_chr19_46541040 4.57e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 171771402 7408955 NA20431_36_chr19_46541040 4.57e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 203757608 7408955 BUSHMAN-chr19-46541039 4.57e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 211965417 7408955 YRI.trio.3.2010_1441633_chr19_46541040 4.57e-01 2010.03.31 2010.03.31 2003.07.11 2012.11.28 137 GMI 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 283213925 7408955 GMI_AK_SNP_7534346 4.57e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 292179493 7408955 SNP_1685851_chr19_46541040 4.57e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849200G>C;NG_013364.1:g.15632C>G;NM_000660.4:c.635-1048C>G 340469732 7408955 20100804_snps_12113273_chr19_41849200 4.57e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849228G>A;NG_013364.1:g.15604C>T;NM_000660.4:c.635-1076C>T 465598987 188483936 20101123_snps_11766217_chr19_41849228 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41849266C>T;NG_013364.1:g.15566G>A;NM_000660.4:c.635-1114G>A 465598988 180935931 20101123_snps_11766218_chr19_41849266 2.66e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41849270C>G;NG_013364.1:g.15562G>C;NM_000660.4:c.635-1118G>C 465598989 185057643 20101123_snps_11766219_chr19_41849270 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41849331G>A;NG_013364.1:g.15501C>T;NM_000660.4:c.635-1179C>T 465598990 189475738 20101123_snps_11766220_chr19_41849331 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41849495T>G;NG_013364.1:g.15337A>C;NM_000660.4:c.634+1157A>C 15356556 11466331 IIPGA-TGFB1_12797 3.70e-03 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849495T>G;NG_013364.1:g.15337A>C;NM_000660.4:c.634+1157A>C 115149636 11466331 NA19240_2008_12_16_3261266_chr19_46541335 3.70e-03 2008.12.19 2008.12.19 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41849495T>G;NG_013364.1:g.15337A>C;NM_000660.4:c.634+1157A>C 169769521 11466331 NA19240_36_chr19_46541335 3.70e-03 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849495T>G;NG_013364.1:g.15337A>C;NM_000660.4:c.634+1157A>C 228145055 11466331 pilot_1_YRI_9954738_chr19_46541335 3.70e-03 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41849495T>G;NG_013364.1:g.15337A>C;NM_000660.4:c.634+1157A>C 482351237 11466331 HumanOmni2.5-4v1_D_kgp21525441-0_B_F_1844403154 3.70e-03 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41849495T>G;NG_013364.1:g.15337A>C;NM_000660.4:c.634+1157A>C 483829768 11466331 HumanOmni2.5-4v1_B_SNP19-46541335-0_B_F_1637574248 3.70e-03 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41849694C>T;NG_013364.1:g.15138G>A;NM_000660.4:c.634+958G>A 15356555 11466330 IIPGA-TGFB1_12598 3.20e-03 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849694C>T;NG_013364.1:g.15138G>A;NM_000660.4:c.634+958G>A 340469733 11466330 20100804_snps_12113274_chr19_41849694 3.20e-03 2011.03.22 2011.03.22 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 8090741 5828101 INDEL_GP31_17273 4.56e-01 2003.04.16 2003.10.10 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 49960354 5828101 INDEL_GP35_TSC_165257 4.56e-01 2006.01.23 2006.01.23 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 99387976 5828101 INDEL_GP36_2007a_225969_0 4.56e-01 2008.05.05 2008.05.05 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 100877277 5828101 INDEL_GP36_2008a_225969_1 4.56e-01 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 100877279 5828101 INDEL_GP36_2008a_225969_2 4.56e-01 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 100877284 5828101 INDEL_GP36_2008a_225969_3 4.56e-01 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 100877285 5828101 INDEL_GP36_2008a_225969_4 4.56e-01 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 100877290 5828101 INDEL_GP36_2008a_225969_5 4.56e-01 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 100877293 5828101 INDEL_GP36_2008a_225969_6 4.56e-01 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 100877294 5828101 INDEL_GP36_2008a_225969_7 4.56e-01 2008.05.17 2008.05.17 2003.04.21 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 193511799 5828101 BUSHMAN-chr19-46541663-46541667 4.56e-01 2010.02.16 2010.02.16 2003.04.21 2012.11.28 137 GMI 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 288526145 5828101 GMI_NA10851_INDEL_296539 4.56e-01 2010.12.22 2010.12.22 2003.04.21 2012.11.28 137 GMI 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 289389094 5828101 GMI_AK_INDEL_1066552 4.56e-01 2010.12.30 2011.12.30 2003.04.21 2012.11.28 137 PJP 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 294963430 5828101 DIP_401134_chr19_46541664 4.56e-01 2011.01.22 2011.01.22 2003.04.21 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 327905870 5828101 JPTCHB_chr19_46541663_indel 4.56e-01 2011.03.13 2011.04.03 2003.04.21 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 328033682 5828101 CEU_chr19_46541663_indel 4.56e-01 2011.03.13 2011.04.03 2003.04.21 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 328277208 5828101 YRI_chr19_46541663_indel 4.56e-01 2011.03.13 2011.04.04 2003.04.21 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849824_41849827delAGTT;NG_013364.1:g.15005_15008delAACT;NM_000660.4:c.634+825_634+828delAACT 499582408 5828101 20110316_indels_chr19_41849823_41849826 4.56e-01 2012.03.20 2012.03.20 2003.04.21 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41849825G>A;NG_013364.1:g.15007C>T;NM_000660.4:c.634+827C>T 482869231 200320228 HumanOmni2.5-4v1_D_kgp22822530-0_T_F_1860396199 2012.02.02 2012.02.02 2012.05.04 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41849825G>A;NG_013364.1:g.15007C>T;NM_000660.4:c.634+827C>T 483829770 200320228 HumanOmni2.5-4v1_B_SNP19-46541665-0_T_F_1622834187 2012.02.03 2012.02.03 2012.05.04 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41849826_41849829delTTAG;NG_013364.1:g.15003_15006delCTAA;NM_000660.4:c.634+823_634+826delCTAA 95729057 67247681 1104685412625 2008.03.23 2008.12.03 2009.02.05 2011.10.06 137 DEVINE_LAB 7040 NC_000019.9:g.41849826_41849829delTTAG;NG_013364.1:g.15003_15006delCTAA;NM_000660.4:c.634+823_634+826delCTAA 101529874 67247681 INDEL_GP36_2008a_1164202_0 2008.05.17 2008.05.17 2009.02.05 2011.10.06 137 DEVINE_LAB 7040 NC_000019.9:g.41849826_41849829delTTAG;NG_013364.1:g.15003_15006delCTAA;NM_000660.4:c.634+823_634+826delCTAA 101529876 67247681 INDEL_GP36_2008a_1164202_1 2008.05.17 2008.05.17 2009.02.05 2011.10.06 137 BCMHGSC_JDW 7040 NC_000019.9:g.41849826_41849829delTTAG;NG_013364.1:g.15003_15006delCTAA;NM_000660.4:c.634+823_634+826delCTAA 103616995 67247681 JWB-4066407 2008.06.06 2009.05.11 2009.02.05 2011.10.06 137 PJP 7040 NC_000019.9:g.41849826_41849829delTTAG;NG_013364.1:g.15003_15006delCTAA;NM_000660.4:c.634+823_634+826delCTAA 294963431 67247681 DIP_401135_chr19_46541670 2011.01.22 2011.01.22 2009.02.05 2011.10.06 137 TSC-CSHL 7040 NC_000019.9:g.41849827_41849830delTAGT;NG_013364.1:g.15002_15005delACTA;NM_000660.4:c.634+822_634+825delACTA 4292505 3061190 TSC1365667 2001.11.09 2003.10.10 2002.01.05 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41849867G>A;NG_013364.1:g.14965C>T;NM_000660.4:c.634+785C>T 465598991 182221823 20101123_snps_11766221_chr19_41849867 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 7040 NC_000019.9:g.41849886_41849887insTT;NG_013364.1:g.14945_14946insAA;NM_000660.4:c.634+765_634+766insAA 4292507 3061192 TSC1365668 2001.11.09 2003.10.10 2002.01.05 2012.12.04 137 DEVINE_LAB 7040 NC_000019.9:g.41849884_41849885insTT;NG_013364.1:g.14947_14948insAA;NM_000660.4:c.634+767_634+768insAA 8090742 5828102 INDEL_GP31_30149 2003.04.16 2003.10.10 2003.04.21 2011.07.08 137 ABI 7040 NC_000019.9:g.41849884_41849885insTT;NG_013364.1:g.14947_14948insAA;NM_000660.4:c.634+767_634+768insAA 41023971 5828102 hCV33846228 2005.07.17 2005.07.17 2003.04.21 2011.07.08 137 HGSV 7040 NC_000019.9:g.41849886_41849887insTT;NG_013364.1:g.14945_14946insAA;NM_000660.4:c.634+765_634+766insAA 81670346 3061192 Cor18956_DIV_20070510.chr19_46541745-46541746_1 2007.12.01 2007.12.01 2002.01.05 2012.12.04 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41849886_41849887insTT;NG_013364.1:g.14945_14946insAA;NM_000660.4:c.634+765_634+766insAA 95729058 3061192 1104685412626 2008.03.23 2008.12.03 2002.01.05 2012.12.04 137 CSHL-HAPMAP 7040 NC_000019.9:g.41849947G>C;NG_013364.1:g.14885C>G;NM_000660.4:c.634+705C>G 16808747 11673275 CSHL-HuAA-200402.chr19.NT_011109.15_14118165 2004.02.18 2004.03.04 2004.02.28 2011.07.08 137 TSC-CSHL 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 2392700 1549934 TSC0432870 4.34e-01 2000.10.20 2003.10.10 2000.10.23 2012.11.28 137 SC_JCM 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 5868408 1549934 NT_011139.12_1250120 4.34e-01 2003.01.11 2003.10.10 2000.10.23 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 16808495 1549934 CSHL-HuAA-200402.chr19.NT_011109.15_14118176 4.34e-01 2004.02.18 2004.03.04 2000.10.23 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 17626326 1549934 CSHL-HuCC-200402.chr19.NT_011109.15_14118176 4.34e-01 2004.02.19 2004.03.04 2000.10.23 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 19408689 1549934 CSHL-HuDD-200402.chr19.NT_011109.15_14118176 4.34e-01 2004.02.21 2004.03.04 2000.10.23 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 21544061 1549934 WGSA-200403-chr19.chr19.NT_011109.15_14118176 4.34e-01 2004.03.20 2004.03.20 2000.10.23 2012.11.28 137 ABI 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 41008523 1549934 hCV11707845 4.34e-01 2005.07.17 2005.07.17 2000.10.23 2012.11.28 137 HGSV 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 82795215 1549934 Cor18956_SNV_20070510.chr19_46541798 4.34e-01 2007.12.03 2007.12.03 2000.10.23 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 96268001 1549934 1103691147400 4.34e-01 2008.03.26 2008.03.26 2000.10.23 2012.11.28 137 BGI 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 106055539 1549934 BGI_rs1549934 4.34e-01 2008.09.13 2009.06.17 2000.10.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 111391307 1549934 CEU.trio.12.15.2008_3619796_chr19_46541798 4.34e-01 2008.12.17 2008.12.17 2000.10.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 115149638 1549934 NA19240_2008_12_16_3261267_chr19_46541798 4.34e-01 2008.12.19 2008.12.19 2000.10.23 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 136262367 1549934 ENSSNP1531687 4.34e-01 2009.05.15 2010.03.07 2000.10.23 2012.11.28 137 GMI 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 155910789 1549934 GMI_SNP_74230999 4.34e-01 2009.06.24 2009.06.24 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 168214422 1549934 NA07022_36_chr19_46541798 4.34e-01 2009.09.30 2009.09.30 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 169769530 1549934 NA19240_36_chr19_46541798 4.34e-01 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 171771410 1549934 NA20431_36_chr19_46541798 4.34e-01 2009.10.01 2009.10.01 2000.10.23 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 203757609 1549934 BUSHMAN-chr19-46541797 4.34e-01 2010.03.09 2010.03.09 2000.10.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 228145057 1549934 pilot_1_YRI_9954740_chr19_46541798 4.34e-01 2010.04.22 2010.04.22 2000.10.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 237681373 1549934 pilot_1_CEU_7286002_chr19_46541798 4.34e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 243886498 1549934 pilot_1_CHB+JPT_5771575_chr19_46541798 4.34e-01 2010.05.01 2010.05.01 2000.10.23 2012.11.28 137 GMI 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 283213926 1549934 GMI_AK_SNP_7534347 4.34e-01 2010.12.16 2010.12.16 2000.10.23 2012.11.28 137 PJP 7040 NC_000019.9:g.41849958A>G;NG_013364.1:g.14874T>C;NM_000660.4:c.634+694T>C 292179494 1549934 SNP_1685852_chr19_46541798 4.34e-01 2011.01.21 2011.01.21 2000.10.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41849961C>T;NG_013364.1:g.14871G>A;NM_000660.4:c.634+691G>A 340469734 147233612 20100804_snps_12113275_chr19_41849961 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41850060G>T;NG_013364.1:g.14772C>A;NM_000660.4:c.634+592C>A 228145059 115022623 pilot_1_YRI_9954742_chr19_46541900 8.70e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 15356554 11466329 IIPGA-TGFB1_12183 4.34e-01 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ABI 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 41035973 11466329 hCV33846230 4.34e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 CHANNING_WEISS 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 65919625 11466329 19_46541950_CL32604_TGFB1 4.34e-01 2006.10.26 2006.10.26 2004.02.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 81670339 11466329 Cor18956_DIV_20070510.chr19_46541951-46541953_1 4.34e-01 2007.12.01 2007.12.01 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 95729059 11466329 1104685412627 4.34e-01 2008.03.23 2008.12.03 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 100061603 11466329 INDEL_GP36_2008a_1536869_0 4.34e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 100061606 11466329 INDEL_GP36_2008a_1536869_1 4.34e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 100061611 11466329 INDEL_GP36_2008a_1536869_2 4.34e-01 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 289389095 11466329 GMI_AK_INDEL_1066553 4.34e-01 2010.12.30 2011.12.30 2004.02.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 294963434 11466329 DIP_401138_chr19_46541949 4.34e-01 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 294963435 11466329 DIP_401139_chr19_46541952 4.34e-01 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 327905875 11466329 JPTCHB_chr19_46541948_indel 4.34e-01 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 328033684 11466329 CEU_chr19_46541948_indel 4.34e-01 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 328277209 11466329 YRI_chr19_46541948_indel 4.34e-01 2011.03.13 2011.04.04 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850109delA;NG_013364.1:g.14723delT;NM_000660.4:c.634+543delT 499582412 11466329 20110316_indels_chr19_41850108_41850108 4.34e-01 2012.03.20 2012.03.20 2004.02.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41850392A>C;NG_013364.1:g.14440T>G;NM_000660.4:c.634+260T>G 137680572 75740031 ENSSNP11447778 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41850513A>G;NG_013364.1:g.14319T>C;NM_000660.4:c.634+139T>C 465598992 186865060 20101123_snps_11766222_chr19_41850513 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BUSHMAN 7040 NC_000019.9:g.41850569G>A;NG_013364.1:g.14263C>T;NM_000660.4:c.634+83C>T 203757610 112258729 BUSHMAN-chr19-46542408 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 GSK-GENETICS 7040 NC_000019.9:g.41850623C>A;NG_013364.1:g.14209G>T;NM_000660.4:c.634+29G>T 491256373 199637461 chr19_46542463 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 69367819 28395768 PS205524_PA144958157_101 8.20e-03 2007.03.22 2007.03.22 2005.05.24 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 75068623 28395768 ILMN_Human_1M_rs28395768 8.20e-03 2007.08.29 2007.08.29 2005.05.24 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 173493605 28395768 Human1M-Duov3_B_rs28395768-126_B_F_1514042580 8.20e-03 2009.10.03 2009.10.03 2005.05.24 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 228145060 28395768 pilot_1_YRI_9954743_chr19_46542464 8.20e-03 2010.04.22 2010.04.22 2005.05.24 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 262867473 28395768 TGFB1-014717_014718-A_G 8.20e-03 2010.09.24 2010.09.24 2005.05.24 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 491159830 28395768 20110521_exome_667628_chr19_41850624 8.20e-03 2012.02.22 2012.02.22 2005.05.24 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 491256374 28395768 chr19_46542464 8.20e-03 2012.03.02 2012.03.02 2005.05.24 2012.11.28 137 CLINSEQ_SNP 7040 NC_000019.9:g.41850624A>C;NC_000019.9:g.41850624A>G;NC_000019.9:g.41850624A>T;NG_013364.1:g.14208T>A;NG_013364.1:g.14208T>C;NG_013364.1:g.14208T>G;NM_000660.4:c.634+28T>A;NM_000660.4:c.634+28T>C;NM_000660.4:c.634+28T>G 491767922 28395768 SNV-chr19-46542464 8.20e-03 2012.03.07 2012.03.13 2005.05.24 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41850626G>C;NG_013364.1:g.14206C>G;NM_000660.4:c.634+26C>G 491256375 202063963 chr19_46542466 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41850636C>T;NG_013364.1:g.14196G>A;NM_000660.4:c.634+16G>A 491256376 199838065 chr19_46542476 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41850652C>T;NG_013364.1:g.14180G>A;NM_000660.4:c.634G>A;NP_000651.3:p.Gly212Arg 491256377 200611791 chr19_46542492 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41850657C>T;NG_013364.1:g.14175G>A;NM_000660.4:c.629G>A;NP_000651.3:p.Arg210His 491256378 201430293 chr19_46542497 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41850663A>C;NG_013364.1:g.14169T>G;NM_000660.4:c.623T>G;NP_000651.3:p.Leu208Trp 262867474 146875339 TGFB1-014756_014757-A_C 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41850673G>A;NG_013364.1:g.14159C>T;NM_000660.4:c.613C>T;NP_000651.3:p.Arg205Trp 491256379 199882566 chr19_46542513 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 7040 NC_000019.9:g.41850679C>T;NG_013364.1:g.14153G>A;NM_000660.4:c.607G>A;NP_000651.3:p.Val203Ile 342499258 142931834 ESP2500-chr19-41850679 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 7040 NC_000019.9:g.41850682C>T;NG_013364.1:g.14150G>A;NM_000660.4:c.604G>A;NP_000651.3:p.Gly202Arg 342499259 151105395 ESP2500-chr19-41850682 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850682C>T;NG_013364.1:g.14150G>A;NM_000660.4:c.604G>A;NP_000651.3:p.Gly202Arg 489167699 151105395 20110521_exome_257210_chr19_41850682 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 EXOME_CHIP 7040 NC_000019.9:g.41850682C>T;NG_013364.1:g.14150G>A;NM_000660.4:c.604G>A;NP_000651.3:p.Gly202Arg 491547791 151105395 nonsyn_264017_chr_19_41850682 5.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41850715C>T;NG_013364.1:g.14117G>A;NM_000660.4:c.571G>A;NP_000651.3:p.Asp191Asn 491256380 201383660 chr19_46542555 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41850721G>A;NG_013364.1:g.14111C>T;NM_000660.4:c.565C>T;NP_000651.3:p.Pro189Ser 491256381 201828175 chr19_46542561 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41850730G>A;NG_013364.1:g.14102C>T;NM_000660.4:c.556C>T;NP_000651.3:p.Leu186= 262867475 140746279 TGFB1-014823_014824-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41850732C>T;NG_013364.1:g.14100G>A;NM_000660.4:c.554G>A;NP_000651.3:p.Arg185Gln 491256382 200030349 chr19_46542572 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41850733G>A;NG_013364.1:g.14099C>T;NM_000660.4:c.553C>T;NP_000651.3:p.Arg185Trp 491256383 201055697 chr19_46542573 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 GOLDSTEINLAB 7040 NC_000019.9:g.41850733G>A;NG_013364.1:g.14099C>T;NM_000660.4:c.553C>T;NP_000651.3:p.Arg185Trp 507882664 201055697 19_46542573_A 2012.04.06 2012.04.06 2012.05.04 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41850747C>T;NG_013364.1:g.14085G>A;NM_000660.4:c.539G>A;NP_000651.3:p.Arg180Gln 491256384 201951718 chr19_46542587 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41850757T>C;NG_013364.1:g.14075A>G;NM_000660.4:c.529A>G;NP_000651.3:p.Asn177Asp 489167701 202057576 20110521_exome_257211_chr19_41850757 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41850782G>A;NG_013364.1:g.14050C>T;NM_000660.4:c.517-13C>T 102661423 72480426 TGFB1_517-13C-->T 5.00e-04 2008.05.22 2008.05.22 2009.02.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850782G>A;NG_013364.1:g.14050C>T;NM_000660.4:c.517-13C>T 489167703 72480426 20110521_exome_257212_chr19_41850782 5.00e-04 2012.02.14 2012.02.14 2009.02.14 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41850796G>A;NG_013364.1:g.14036C>T;NM_000660.4:c.517-27C>T 491256385 200413791 chr19_46542636 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41850804G>A;NG_013364.1:g.14028C>T;NM_000660.4:c.517-35C>T 491256386 201036538 chr19_46542644 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41850808A>G;NG_013364.1:g.14024T>C;NM_000660.4:c.517-39T>C 491256387 202077445 chr19_46542648 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41850818G>A;NG_013364.1:g.14014C>T;NM_000660.4:c.517-49C>T 489167705 199879125 20110521_exome_257213_chr19_41850818 0 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41850876G>C;NG_013364.1:g.13956C>G;NM_000660.4:c.517-107C>G 262867476 143645535 TGFB1-014969_014970-C_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41850896C>T;NG_013364.1:g.13936G>A;NM_000660.4:c.517-127G>A 465598993 191705375 20101123_snps_11766223_chr19_41850896 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 RSG_JCVI 7040 NC_000019.9:g.41850914T>G;NG_013364.1:g.13918A>C;NM_000660.4:c.517-145A>C 262867477 148096740 TGFB1-015007_015008-G_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41850948C>G;NG_013364.1:g.13884G>C;NM_000660.4:c.517-179G>C 262867478 140973181 TGFB1-015041_015042-C_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41850949C>T;NG_013364.1:g.13883G>A;NM_000660.4:c.517-180G>A 262867479 150225413 TGFB1-015042_015043-C_T 1.40e-03 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41850949C>T;NG_013364.1:g.13883G>A;NM_000660.4:c.517-180G>A 340469735 150225413 20100804_snps_12113276_chr19_41850949 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41850953G>A;NG_013364.1:g.13879C>T;NM_000660.4:c.517-184C>T 262867480 138064746 TGFB1-015046_015047-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 BCM_SSAHASNP 7040 NC_000019.9:g.41850984C>T;NG_013364.1:g.13848G>A;NM_000660.4:c.517-215G>A 14696652 10405403 chr19.NT_011109.15_14119202 7.80e-03 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41850984C>T;NG_013364.1:g.13848G>A;NM_000660.4:c.517-215G>A 15356553 10405403 IIPGA-TGFB1_11308 7.80e-03 2003.11.14 2004.04.07 2003.12.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41850984C>T;NG_013364.1:g.13848G>A;NM_000660.4:c.517-215G>A 159889845 10405403 HumanOmni1-Quad_v1-0_B_rs10405403-128_T_R_1562985647 7.80e-03 2009.08.04 2009.10.01 2003.12.05 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41850984C>T;NG_013364.1:g.13848G>A;NM_000660.4:c.517-215G>A 262867481 10405403 TGFB1-015077_015078-C_T 7.80e-03 2010.09.24 2010.09.24 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41850984C>T;NG_013364.1:g.13848G>A;NM_000660.4:c.517-215G>A 340469736 10405403 20100804_snps_12113277_chr19_41850984 7.80e-03 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41850984C>T;NG_013364.1:g.13848G>A;NM_000660.4:c.517-215G>A 479625259 10405403 HumanOmni1-Quad_v1-0_C_rs10405403-131_T_R_1858960831 7.80e-03 2012.01.30 2012.01.30 2003.12.05 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41850985G>A;NG_013364.1:g.13847C>T;NM_000660.4:c.517-216C>T 262867482 147202556 TGFB1-015078_015079-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41851013G>A;NG_013364.1:g.13819C>T;NM_000660.4:c.517-244C>T 262867483 138923030 TGFB1-015106_015107-A_G 5.00e-04 2010.09.24 2010.09.24 2011.05.09 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41851013G>A;NG_013364.1:g.13819C>T;NM_000660.4:c.517-244C>T 465598994 138923030 20101123_snps_11766224_chr19_41851013 5.00e-04 2011.07.20 2011.07.20 2011.05.09 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41851042G>A;NG_013364.1:g.13790C>T;NM_000660.4:c.517-273C>T 15356552 11466328 IIPGA-TGFB1_11250 1.10e-02 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41851042G>A;NG_013364.1:g.13790C>T;NM_000660.4:c.517-273C>T 237681374 11466328 pilot_1_CEU_7286003_chr19_46542882 1.10e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41851127C>T;NG_013364.1:g.13705G>A;NM_000660.4:c.517-358G>A 15356551 11466327 IIPGA-TGFB1_11165 2003.11.14 2003.11.22 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41851156C>G;NG_013364.1:g.13676G>C;NM_000660.4:c.517-387G>C 465598995 186697845 20101123_snps_11766225_chr19_41851156 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41851168A>G;NG_013364.1:g.13664T>C;NM_000660.4:c.517-399T>C 340469737 144631395 20100804_snps_12113278_chr19_41851168 6.00e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 WI_SSAHASNP 7040 NC_000019.9:g.41851186G>C;NG_013364.1:g.13646C>G;NM_000660.4:c.517-417C>G 12454207 8102501 chr19.NT_011109.15_14119404 5.72e-02 2003.07.04 2003.10.10 2003.07.11 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41851186G>C;NG_013364.1:g.13646C>G;NM_000660.4:c.517-417C>G 15356550 8102501 IIPGA-TGFB1_11106 5.72e-02 2003.11.14 2004.04.07 2003.07.11 2011.09.09 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41851186G>C;NG_013364.1:g.13646C>G;NM_000660.4:c.517-417C>G 168214426 8102501 NA07022_36_chr19_46543026 5.72e-02 2009.09.30 2009.09.30 2003.07.11 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41851186G>C;NG_013364.1:g.13646C>G;NM_000660.4:c.517-417C>G 340469738 8102501 20100804_snps_12113279_chr19_41851186 5.72e-02 2011.03.22 2011.03.22 2003.07.11 2011.09.09 137 GMI 7040 NC_000019.9:g.41851274C>T;NG_013364.1:g.13558G>A;NM_000660.4:c.517-505G>A 283213927 201508090 GMI_AK_SNP_7534348 2010.12.16 2010.12.16 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41851275G>A;NG_013364.1:g.13557C>T;NM_000660.4:c.517-506C>T 340469739 144114219 20100804_snps_12113280_chr19_41851275 6.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BCM_SSAHASNP 7040 NC_000019.9:g.41851315T>C;NG_013364.1:g.13517A>G;NM_000660.4:c.517-546A>G 10924564 7249191 chr19.NT_011109.15_14119533 1.24e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 GMI 7040 NC_000019.9:g.41851315T>C;NG_013364.1:g.13517A>G;NM_000660.4:c.517-546A>G 283213928 7249191 GMI_AK_SNP_7534349 1.24e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41851315T>C;NG_013364.1:g.13517A>G;NM_000660.4:c.517-546A>G 340469741 7249191 20100804_snps_12113282_chr19_41851315 1.24e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41851358C>T;NG_013364.1:g.13474G>A;NM_000660.4:c.517-589G>A 340469743 146652543 20100804_snps_12113284_chr19_41851358 1.01e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41851396C>T;NG_013364.1:g.13436G>A;NM_000660.4:c.517-627G>A 340469744 139047622 20100804_snps_12113285_chr19_41851396 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41851397G>C;NG_013364.1:g.13435C>G;NM_000660.4:c.517-628C>G 465598996 190233168 20101123_snps_11766226_chr19_41851397 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41851467T>C;NG_013364.1:g.13365A>G;NM_000660.4:c.517-698A>G 465598997 182453192 20101123_snps_11766227_chr19_41851467 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41851483C>A;NG_013364.1:g.13349G>T;NM_000660.4:c.517-714G>T 243886499 116975930 pilot_1_CHB+JPT_5771576_chr19_46543323 1.33e-02 2010.05.01 2010.05.01 2010.07.15 2012.11.28 137 GMI 7040 NC_000019.9:g.41851483C>A;NG_013364.1:g.13349G>T;NM_000660.4:c.517-714G>T 283213929 116975930 GMI_AK_SNP_7534350 1.33e-02 2010.12.16 2010.12.16 2010.07.15 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 6630005 4803455 NT_011109.13_4007025 4.78e-01 untested 2003.02.13 2003.10.10 2003.02.20 2013.01.31 137 BCM_SSAHASNP 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 14698384 4803455 chr19.NT_011109.15_14119727 4.78e-01 untested 2003.11.10 2006.10.25 2003.02.20 2013.01.31 137 CSHL-HAPMAP 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 17613592 4803455 CSHL-HuCC-200402.chr19.NT_011109.15_14119727 4.78e-01 untested 2004.02.19 2004.03.04 2003.02.20 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 21527576 4803455 WGSA-200403-chr19.chr19.NT_011109.15_14119727 4.78e-01 untested 2004.03.20 2004.03.20 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 65766735 4803455 Human1-rs4803455 4.78e-01 untested 2006.10.10 2006.10.10 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 66684805 4803455 HumanHap300v1.1_rs4803455 4.78e-01 untested 2006.11.09 2006.11.09 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 67379627 4803455 HumanHap550v1.1_rs4803455 4.78e-01 untested 2006.11.14 2006.11.14 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 67758371 4803455 HumanHap650Yv1.0_rs4803455 4.78e-01 untested 2006.11.14 2006.11.14 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 70826456 4803455 HumanHap550v3.0__rs4803455 4.78e-01 untested 2007.04.20 2008.03.31 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 71408605 4803455 HumanHap650Yv3.0_rs4803455 4.78e-01 untested 2007.04.23 2007.04.23 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 75573520 4803455 ILMN_Human_1M_rs4803455 4.78e-01 untested 2007.08.29 2007.08.29 2003.02.20 2013.01.31 137 HGSV 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 77277424 4803455 Cor12156_SNV_20070510.chr19_46543349 4.78e-01 untested 2007.10.10 2007.10.12 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 79196308 4803455 HumanHap300v2.0_rs4803455 4.78e-01 untested 2007.11.18 2007.11.18 2003.02.20 2013.01.31 137 KRIBB_YJKIM 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 84359067 4803455 KHS692722 4.78e-01 untested 2007.12.07 2007.12.07 2003.02.20 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 96268002 4803455 1103691147403 4.78e-01 untested 2008.03.26 2008.03.26 2003.02.20 2013.01.31 137 BGI 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 106055540 4803455 BGI_rs4803455 4.78e-01 untested 2008.09.13 2009.06.17 2003.02.20 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 111391315 4803455 CEU.trio.12.15.2008_3619797_chr19_46543349 4.78e-01 untested 2008.12.17 2008.12.17 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 122393970 4803455 HumanCNV370v1_C_rs4803455 4.78e-01 untested 2009.04.15 2009.04.15 2003.02.20 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 136262364 4803455 ENSSNP1531689 4.78e-01 untested 2009.05.15 2009.10.15 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 154318925 4803455 Human610_Quadv1_B_rs4803455-128_T_F_1501787770 4.78e-01 untested 2009.06.20 2009.06.20 2003.02.20 2013.01.31 137 GMI 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 155910799 4803455 GMI_SNP_41049852 4.78e-01 untested 2009.06.24 2009.06.24 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 159495593 4803455 Human660W-Quad_v1_A_rs4803455-128_T_F_1501787770 4.78e-01 untested 2009.07.07 2009.07.07 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 160713956 4803455 HumanOmni1-Quad_v1-0_B_rs4803455-128_T_F_1512160435 4.78e-01 untested 2009.08.07 2009.10.04 2003.02.20 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 168214440 4803455 NA07022_36_chr19_46543349 4.78e-01 untested 2009.09.30 2009.09.30 2003.02.20 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 171771418 4803455 NA20431_36_chr19_46543349 4.78e-01 untested 2009.10.01 2009.10.01 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 171925950 4803455 HumanCNV370-Quadv3_C_rs4803455-128_T_F_1501787770 4.78e-01 untested 2009.10.01 2009.10.04 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 173821565 4803455 Human1M-Duov3_B_rs4803455-128_T_F_1501787770 4.78e-01 untested 2009.10.04 2009.10.04 2003.02.20 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 203757611 4803455 BUSHMAN-chr19-46543348 4.78e-01 untested 2010.03.09 2010.03.09 2003.02.20 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 211965419 4803455 YRI.trio.3.2010_1441634_chr19_46543349 4.78e-01 untested 2010.03.31 2010.03.31 2003.02.20 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 228145061 4803455 pilot_1_YRI_9954744_chr19_46543349 4.78e-01 untested 2010.04.22 2010.04.22 2003.02.20 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 237681375 4803455 pilot_1_CEU_7286004_chr19_46543349 4.78e-01 untested 2010.05.01 2010.05.01 2003.02.20 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 243886500 4803455 pilot_1_CHB+JPT_5771577_chr19_46543349 4.78e-01 untested 2010.05.01 2010.05.01 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 244301423 4803455 CVDSNP55v1_A_rs4803455 4.78e-01 untested 2010.06.10 2010.06.10 2003.02.20 2013.01.31 137 GMI 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 283213930 4803455 GMI_AK_SNP_7534351 4.78e-01 untested 2010.12.16 2010.12.16 2003.02.20 2013.01.31 137 PJP 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 292179495 4803455 SNP_1685853_chr19_46543349 4.78e-01 untested 2011.01.21 2011.01.21 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 410936341 4803455 Cardio-Metabo_Chip_11395247_A_rs4803455 4.78e-01 untested 2011.06.07 2011.06.07 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 481055203 4803455 HumanOmni2.5-4v1_B_rs4803455-128_T_F_1616887769 4.78e-01 untested 2012.01.31 2012.01.31 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 481076808 4803455 HumanOmniExpress-12v1_C_rs4803455-131_T_F_1862787414 4.78e-01 untested 2012.01.31 2012.01.31 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 482070016 4803455 HumanOmni1-Quad_v1-0_C_rs4803455-131_T_F_1865049985 4.78e-01 untested 2012.02.01 2012.02.01 2003.02.20 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 485322631 4803455 HumanOmni2.5-4v1_D_rs4803455-131_T_F_1862787414 4.78e-01 untested 2012.02.05 2012.02.05 2003.02.20 2013.01.31 137 GENEREVIEWS 7040 NG_013364.1:g.13323G>T NC_000019.9:g.41851509C>A;NG_013364.1:g.13323G>T;NM_000660.4:c.517-740G>T 647514684 4803455 NG_013364.1:g.13323G>T 4.78e-01 untested 2012.12.12 2012.12.12 2003.02.20 2013.01.31 137 WI_SSAHASNP 7040 NC_000019.9:g.41851565G>A;NG_013364.1:g.13267C>T;NM_000660.4:c.517-796C>T 12454926 8102918 chr19.NT_011109.15_14119783 9.60e-03 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41851565G>A;NG_013364.1:g.13267C>T;NM_000660.4:c.517-796C>T 340469745 8102918 20100804_snps_12113286_chr19_41851565 9.60e-03 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41851644T>C;NG_013364.1:g.13188A>G;NM_000660.4:c.517-875A>G 340469746 145884172 20100804_snps_12113287_chr19_41851644 1.05e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 BL 7040 NC_000019.9:g.41851657A>C;NG_013364.1:g.13175T>G;NM_000660.4:c.517-888T>G 255683533 141877078 SNP52638_19_46543497 2010.08.20 2010.08.20 2011.05.09 2011.07.08 137 BCM_SSAHASNP 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 14698776 10406816 chr19.NT_011109.15_14119934 4.68e-01 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 21528626 10406816 WGSA-200403-chr19.chr19.NT_011109.15_14119934 4.68e-01 2004.03.20 2004.03.20 2003.12.05 2012.11.28 137 ABI 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 40967816 10406816 hCV29544192 4.68e-01 2005.07.17 2005.07.17 2003.12.05 2012.11.28 137 HGSV 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 78690944 10406816 Cor12878_SNV_20070510.chr19_46543556 4.68e-01 2007.10.20 2007.10.20 2003.12.05 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 90976613 10406816 JWB-1170437 4.68e-01 2008.03.01 2008.03.01 2003.12.05 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 96268003 10406816 1103691147404 4.68e-01 2008.03.26 2008.03.26 2003.12.05 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 136262362 10406816 ENSSNP1531690 4.68e-01 2009.05.15 2009.10.15 2003.12.05 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 137680575 10406816 ENSSNP11447779 4.68e-01 2009.05.16 2009.05.16 2003.12.05 2012.11.28 137 GMI 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 155910803 10406816 GMI_SNP_74294995 4.68e-01 2009.06.24 2009.06.24 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 168214454 10406816 NA07022_36_chr19_46543556 4.68e-01 2009.09.30 2009.09.30 2003.12.05 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 171771426 10406816 NA20431_36_chr19_46543556 4.68e-01 2009.10.01 2009.10.01 2003.12.05 2012.11.28 137 GMI 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 283213931 10406816 GMI_AK_SNP_7534352 4.68e-01 2010.12.16 2010.12.16 2003.12.05 2012.11.28 137 PJP 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 292179496 10406816 SNP_1685854_chr19_46543556 4.68e-01 2011.01.21 2011.01.21 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41851716A>G;NG_013364.1:g.13116T>C;NM_000660.4:c.517-947T>C 340469747 10406816 20100804_snps_12113288_chr19_41851716 4.68e-01 2011.03.22 2011.03.22 2003.12.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41851771C>T;NG_013364.1:g.13061G>A;NM_000660.4:c.517-1002G>A 340469748 147100533 20100804_snps_12113289_chr19_41851771 7.80e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41851806C>A;NG_013364.1:g.13026G>T;NM_000660.4:c.517-1037G>T 137680578 78966929 ENSSNP11447780 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41851807A>C;NG_013364.1:g.13025T>G;NM_000660.4:c.517-1038T>G 137680582 80088963 ENSSNP11447781 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41851808A>C;NG_013364.1:g.13024T>G;NM_000660.4:c.517-1039T>G 137680585 79162423 ENSSNP11447782 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41851809A>C;NG_013364.1:g.13023T>G;NM_000660.4:c.517-1040T>G 137680587 79492816 ENSSNP11447783 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 BCMHGSC_JDW 7040 NC_000019.9:g.41851822C>A;NG_013364.1:g.13010G>T;NM_000660.4:c.517-1053G>T 90976615 62120969 JWB-2966631 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41851822C>A;NG_013364.1:g.13010G>T;NM_000660.4:c.517-1053G>T 137680590 62120969 ENSSNP11447784 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41851823A>C;NG_013364.1:g.13009T>G;NM_000660.4:c.517-1054T>G 137680594 76719703 ENSSNP11447785 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41851873C>G;NG_013364.1:g.12959G>C;NM_000660.4:c.517-1104G>C 237681377 117745570 pilot_1_CEU_7286006_chr19_46543713 1.80e-03 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41851874C>A;NG_013364.1:g.12958G>T;NM_000660.4:c.517-1105G>T 228145062 116413879 pilot_1_YRI_9954745_chr19_46543714 9.60e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41851897G>A;NG_013364.1:g.12935C>T;NM_000660.4:c.517-1128C>T 465598998 186637118 20101123_snps_11766228_chr19_41851897 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41851994G>A;NG_013364.1:g.12838C>T;NM_000660.4:c.517-1225C>T 340469749 147721101 20100804_snps_12113290_chr19_41851994 3.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 TSC-CSHL 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 2900704 1989457 TSC0056248 4.34e-01 2001.01.03 2003.10.10 2001.01.12 2012.11.28 137 YUSUKE 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 5002450 1989457 IMS-JST176430 4.34e-01 2002.08.12 2003.10.10 2001.01.12 2012.11.28 137 BCM_SSAHASNP 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 14690806 1989457 chr19.NT_011109.15_14120333 4.34e-01 2003.11.10 2003.11.22 2001.01.12 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 16786180 1989457 CSHL-HuAA-200402.chr19.NT_011109.15_14120333 4.34e-01 2004.02.18 2004.03.04 2001.01.12 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 21508459 1989457 WGSA-200403-chr19.chr19.NT_011109.15_14120333 4.34e-01 2004.03.20 2004.03.20 2001.01.12 2012.11.28 137 ABI 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 41042495 1989457 hCV27493740 4.34e-01 2005.07.17 2005.07.17 2001.01.12 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 78313291 1989457 Cor12878_SNV_20070510.chr19_46543955 4.34e-01 2007.10.18 2007.10.18 2001.01.12 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 83067277 1989457 Cor18956_SNV_20070510.chr19_46543955 4.34e-01 2007.12.04 2007.12.04 2001.01.12 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 85263167 1989457 Cor19129_SNV_20070510.chr19_46543955 4.34e-01 2007.12.08 2007.12.08 2001.01.12 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 85423939 1989457 Cor18517_SNV_20070510.chr19_46543955 4.34e-01 2007.12.09 2007.12.09 2001.01.12 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 90976617 1989457 JWB-1170438 4.34e-01 2008.03.01 2008.03.01 2001.01.12 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 96268004 1989457 1103691147405 4.34e-01 2008.03.26 2008.03.26 2001.01.12 2012.11.28 137 BGI 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 106055541 1989457 BGI_rs1989457 4.34e-01 2008.09.13 2009.06.17 2001.01.12 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 136262359 1989457 ENSSNP1531691 4.34e-01 2009.05.15 2010.03.07 2001.01.12 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 137680597 1989457 ENSSNP11447786 4.34e-01 2009.05.16 2009.05.16 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 168214465 1989457 NA07022_36_chr19_46543955 4.34e-01 2009.09.30 2009.09.30 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 169769544 1989457 NA19240_36_chr19_46543955 4.34e-01 2009.10.01 2009.10.01 2001.01.12 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 171771433 1989457 NA20431_36_chr19_46543955 4.34e-01 2009.10.01 2009.10.01 2001.01.12 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 203757612 1989457 BUSHMAN-chr19-46543954 4.34e-01 2010.03.09 2010.03.09 2001.01.12 2012.11.28 137 GMI 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 283213932 1989457 GMI_AK_SNP_7534353 4.34e-01 2010.12.16 2010.12.16 2001.01.12 2012.11.28 137 PJP 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 292179497 1989457 SNP_1685855_chr19_46543955 4.34e-01 2011.01.21 2011.01.21 2001.01.12 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41852115T>A;NC_000019.9:g.41852115T>C;NC_000019.9:g.41852115T>G;NG_013364.1:g.12717A>C;NG_013364.1:g.12717A>G;NG_013364.1:g.12717A>T;NM_000660.4:c.517-1346A>C;NM_000660.4:c.517-1346A>G;NM_000660.4:c.517-1346A>T 340469750 1989457 20100804_snps_12113291_chr19_41852115 4.34e-01 2011.03.22 2011.03.22 2001.01.12 2012.11.28 137 TSC-CSHL 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 2900705 2014015 TSC0056249 3.70e-03 2001.01.03 2003.10.10 2001.01.23 2012.11.28 137 ABI 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 41044471 2014015 hCV26824334 3.70e-03 2005.07.17 2005.07.17 2001.01.23 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 74987260 2014015 ILMN_Human_1M_rs2014015 3.70e-03 2007.08.29 2007.08.29 2001.01.23 2012.11.28 137 ILLUMINA-UK 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 117709343 2014015 NA18507_000047213_NCBI36.1_chr19_46544099 3.70e-03 2009.01.20 2009.01.20 2001.01.23 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 119412124 2014015 KHS1574371 3.70e-03 2009.02.04 2009.02.04 2001.01.23 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 173044516 2014015 Human1M-Duov3_B_rs2014015-128_B_R_1513967964 3.70e-03 2009.10.02 2009.10.02 2001.01.23 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 203757613 2014015 BUSHMAN-chr19-46544098 3.70e-03 2010.03.09 2010.03.09 2001.01.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41852259C>A;NG_013364.1:g.12573G>T;NM_000660.4:c.517-1490G>T 228145063 2014015 pilot_1_YRI_9954746_chr19_46544099 3.70e-03 2010.04.22 2010.04.22 2001.01.23 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41852267A>C;NG_013364.1:g.12565T>G;NM_000660.4:c.517-1498T>G 465598999 192531919 20101123_snps_11766229_chr19_41852267 3.20e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41852332C>T;NG_013364.1:g.12500G>A;NM_000660.4:c.517-1563G>A 340469751 146585573 20100804_snps_12113292_chr19_41852332 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41852404A>G;NG_013364.1:g.12428T>C;NM_000660.4:c.517-1635T>C 340469752 148292179 20100804_snps_12113293_chr19_41852404 1.14e-02 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 ABI 7040 NC_000019.9:g.41852668delT;NG_013364.1:g.12164delA;NM_000660.4:c.516+1532delA 40976518 35276753 hCV33846232 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 ABI 7040 NC_000019.9:g.41852676_41852677insC;NG_013364.1:g.12155_12156insG;NM_000660.4:c.516+1523_516+1524insG 41016252 35676663 hCV33846233 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 HGSV 7040 NC_000019.9:g.41852719C>T;NG_013364.1:g.12113G>A;NM_000660.4:c.516+1481G>A 84551922 58163377 Cor18517_SNV_20070510.chr19_46544559 2007.12.07 2007.12.07 2007.12.15 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41852725G>A;NG_013364.1:g.12107C>T;NM_000660.4:c.516+1475C>T 340469753 141428713 20100804_snps_12113294_chr19_41852725 3.20e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 3230166 2288874 IMS-JST040251 4.43e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 15356549 2288874 IIPGA-TGFB1_9517 4.43e-01 2003.11.14 2004.04.07 2001.09.28 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 21513754 2288874 WGSA-200403-chr19.chr19.NT_011109.15_14120993 4.43e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 77432591 2288874 Cor12156_SNV_20070510.chr19_46544615 4.43e-01 2007.10.13 2007.10.13 2001.09.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 78304760 2288874 Cor12878_SNV_20070510.chr19_46544615 4.43e-01 2007.10.18 2007.10.18 2001.09.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 83025937 2288874 Cor18956_SNV_20070510.chr19_46544615 4.43e-01 2007.12.04 2007.12.04 2001.09.28 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 90976620 2288874 JWB-1170439 4.43e-01 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 96268005 2288874 1103691147406 4.43e-01 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 132766207 2288874 ENSSNP1531692 4.43e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 137680600 2288874 ENSSNP11447787 4.43e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 155910813 2288874 GMI_SNP_515647715 4.43e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 168214471 2288874 NA07022_36_chr19_46544615 4.43e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 169769563 2288874 NA19240_36_chr19_46544615 4.43e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 171771442 2288874 NA20431_36_chr19_46544615 4.43e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 203757614 2288874 BUSHMAN-chr19-46544614 4.43e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 283213933 2288874 GMI_AK_SNP_7534354 4.43e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 292179498 2288874 SNP_1685856_chr19_46544615 4.43e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41852775T>C;NG_013364.1:g.12057A>G;NM_000660.4:c.516+1425A>G 340469754 2288874 20100804_snps_12113295_chr19_41852775 4.43e-01 2011.03.22 2011.03.22 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41852907A>G;NG_013364.1:g.11925T>C;NM_000660.4:c.516+1293T>C 465599000 183936511 20101123_snps_11766230_chr19_41852907 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41852952C>T;NG_013364.1:g.11880G>A;NM_000660.4:c.516+1248G>A 228145064 116275918 pilot_1_YRI_9954747_chr19_46544792 6.00e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41852959G>A;NG_013364.1:g.11873C>T;NM_000660.4:c.516+1241C>T 340469755 138108014 20100804_snps_12113296_chr19_41852959 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 YUSUKE 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 3230165 2288873 IMS-JST040250 4.22e-01 2001.09.05 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 6630006 2288873 NT_011109.13_4008495 4.22e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 11192685 2288873 chr19.NT_011109.15_14121197 4.22e-01 2003.07.03 2003.10.10 2001.09.28 2012.11.28 137 BCM_SSAHASNP 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 14698852 2288873 chr19.NT_011109.15_14121197 4.22e-01 2003.11.10 2003.11.22 2001.09.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 15356548 2288873 IIPGA-TGFB1_9313 4.22e-01 2003.11.14 2004.04.07 2001.09.28 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 21528806 2288873 WGSA-200403-chr19.chr19.NT_011109.15_14121197 4.22e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 77231473 2288873 Cor12156_SNV_20070510.chr19_46544819 4.22e-01 2007.10.10 2007.10.12 2001.09.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 82197488 2288873 Cor18956_SNV_20070510.chr19_46544819 4.22e-01 2007.12.02 2007.12.02 2001.09.28 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 90976622 2288873 JWB-1170440 4.22e-01 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 96268006 2288873 1103691147407 4.22e-01 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 132766211 2288873 ENSSNP1531694 4.22e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 137680602 2288873 ENSSNP6326778 4.22e-01 2009.05.16 2009.05.16 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 155910820 2288873 GMI_SNP_241101015 4.22e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 168214480 2288873 NA07022_36_chr19_46544819 4.22e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 169769577 2288873 NA19240_36_chr19_46544819 4.22e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 171771450 2288873 NA20431_36_chr19_46544819 4.22e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 203757615 2288873 BUSHMAN-chr19-46544818 4.22e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 237681378 2288873 pilot_1_CEU_7286007_chr19_46544819 4.22e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 283213934 2288873 GMI_AK_SNP_7534355 4.22e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41852979A>G;NG_013364.1:g.11853T>C;NM_000660.4:c.516+1221T>C 292179499 2288873 SNP_1685857_chr19_46544819 4.22e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41853028A>G;NG_013364.1:g.11804T>C;NM_000660.4:c.516+1172T>C 283213935 142556795 GMI_AK_SNP_7534356 1.80e-03 2010.12.16 2010.12.16 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41853028A>G;NG_013364.1:g.11804T>C;NM_000660.4:c.516+1172T>C 340469756 142556795 20100804_snps_12113297_chr19_41853028 1.80e-03 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41853103T>A;NG_013364.1:g.11729A>T;NM_000660.4:c.516+1097A>T 340469757 145985319 20100804_snps_12113298_chr19_41853103 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41853179C>T;NG_013364.1:g.11653G>A;NM_000660.4:c.516+1021G>A 465599001 188433809 20101123_snps_11766231_chr19_41853179 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41853430A>G;NG_013364.1:g.11402T>C;NM_000660.4:c.516+770T>C 340469758 139923763 20100804_snps_12113299_chr19_41853430 4.60e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41853625C>T;NG_013364.1:g.11207G>A;NM_000660.4:c.516+575G>A 340469759 141597983 20100804_snps_12113300_chr19_41853625 2.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41853637G>A;NG_013364.1:g.11195C>T;NM_000660.4:c.516+563C>T 465599002 193188206 20101123_snps_11766232_chr19_41853637 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 7040 NC_000019.9:g.41853679_41853680insC;NG_013364.1:g.11152_11153insG;NM_000660.4:c.516+520_516+521insG 41027659 35312206 hCV33846234 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41853731T>G;NG_013364.1:g.11101A>C;NM_000660.4:c.516+469A>C 208564155 113250420 BCM_CMT_1011-3146059 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 BCMHGSC_JDW 7040 NC_000019.9:g.41853732delC;NC_000019.9:g.41853732delCinsCAA;NG_013364.1:g.11100delG;NG_013364.1:g.11100delGinsTTG;NM_000660.4:c.516+468delG;NM_000660.4:c.516+468delGinsTTG 103616997 74835744 JWB-4066408 2008.06.06 2009.05.11 2009.12.01 2011.07.08 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41853732C>A;NG_013364.1:g.11100G>T;NM_000660.4:c.516+468G>T 208565717 112490751 BCM_CMT_1011-3146597 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41853733delA;NC_000019.9:g.41853733delAinsAAAA;NG_013364.1:g.11099delT;NG_013364.1:g.11099delTinsTTTT;NM_000660.4:c.516+467delT;NM_000660.4:c.516+467delTinsTTTT 101896800 72327083 INDEL_GP36_2008a_2617353_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 PJP 7040 NC_000019.9:g.41853733_41853734delAA;NG_013364.1:g.11098_11099delTT;NM_000660.4:c.516+466_516+467delTT 294963436 138610168 DIP_401140_chr19_46545593 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 HGSV 7040 NC_000019.9:g.41853754delA;NC_000019.9:g.41853754delAinsAA;NC_000019.9:g.41853754delAinsAAAA;NG_013364.1:g.11078delT;NG_013364.1:g.11078delTinsTT;NG_013364.1:g.11078delTinsTTTT;NM_000660.4:c.516+446delT;NM_000660.4:c.516+446delTinsTT;NM_000660.4:c.516+446delTinsTTTT 80962347 58257608 Cor12878_DIV_20070510.chr19_46545592-46545595_1 2007.11.27 2007.11.27 2007.12.15 2012.05.16 137 HGSV 7040 NC_000019.9:g.41853754delA;NC_000019.9:g.41853754delAinsAA;NC_000019.9:g.41853754delAinsAAAA;NG_013364.1:g.11078delT;NG_013364.1:g.11078delTinsTT;NG_013364.1:g.11078delTinsTTTT;NM_000660.4:c.516+446delT;NM_000660.4:c.516+446delTinsTT;NM_000660.4:c.516+446delTinsTTTT 81946554 58257608 Cor18555_DIV_20070510.chr19_46545590-46545595_1 2007.12.01 2007.12.01 2007.12.15 2012.05.16 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41853754delA;NC_000019.9:g.41853754delAinsAA;NC_000019.9:g.41853754delAinsAAAA;NG_013364.1:g.11078delT;NG_013364.1:g.11078delTinsTT;NG_013364.1:g.11078delTinsTTTT;NM_000660.4:c.516+446delT;NM_000660.4:c.516+446delTinsTT;NM_000660.4:c.516+446delTinsTTTT 95729060 58257608 1104685412628 2008.03.23 2008.12.03 2007.12.15 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41853754delA;NC_000019.9:g.41853754delAinsAA;NC_000019.9:g.41853754delAinsAAAA;NG_013364.1:g.11078delT;NG_013364.1:g.11078delTinsTT;NG_013364.1:g.11078delTinsTTTT;NM_000660.4:c.516+446delT;NM_000660.4:c.516+446delTinsTT;NM_000660.4:c.516+446delTinsTTTT 100319129 58257608 INDEL_GP36_2008a_1404413_0 2008.05.16 2008.05.16 2007.12.15 2012.05.16 137 1000GENOMES 7040 NC_000019.9:g.41853779C>T;NG_013364.1:g.11053G>A;NM_000660.4:c.516+421G>A 465599003 185082817 20101123_snps_11766233_chr19_41853779 1.69e-02 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41853853A>G;NG_013364.1:g.10979T>C;NM_000660.4:c.516+347T>C 465599004 188718572 20101123_snps_11766234_chr19_41853853 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41853893_41853901delTGGGCGTGG;NG_013364.1:g.10931_10939delCCACGCCCA;NM_000660.4:c.516+299_516+307delCCACGCCCA 499582417 200142508 20110316_indels_chr19_41853892_41853900 8.20e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41853898G>T;NG_013364.1:g.10934C>A;NM_000660.4:c.516+302C>A 465599005 191632728 20101123_snps_11766235_chr19_41853898 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41853955G>T;NG_013364.1:g.10877C>A;NM_000660.4:c.516+245C>A 465599006 183641515 20101123_snps_11766236_chr19_41853955 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 15227675 11347492 INDEL_GP34_WGS_353473 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 ABI 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 40997717 11347492 hCV33846235 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 82218458 11347492 Cor19129_DIV_20070510.chr19_46545889-46545891_1 2007.12.02 2007.12.02 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 95729061 11347492 1104685412629 2008.03.23 2008.12.03 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 100247916 11347492 INDEL_GP36_2008a_1213359_0 2008.05.16 2008.05.16 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 101200055 11347492 INDEL_GP36_2008a_2825877_0 2008.05.17 2008.05.17 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 102003158 11347492 INDEL_GP36_2008a_1305317_0 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 102284326 11347492 INDEL_GP36_2008a_1404414_0 2008.05.18 2008.05.18 2004.02.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41854036delA;NG_013364.1:g.10796delT;NM_000660.4:c.516+164delT 193511803 11347492 BUSHMAN-chr19-46545875-46545876 2010.02.16 2010.02.16 2004.02.28 2012.11.28 137 YUSUKE 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 3197743 2241717 IMS-JST013665 4.38e-01 2001.08.07 2003.10.10 2001.08.15 2012.11.28 137 BCM_SSAHASNP 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 10931797 2241717 chr19.NT_011109.15_14122270 4.38e-01 2003.06.30 2003.11.10 2001.08.15 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 15356547 2241717 IIPGA-TGFB1_8240 4.38e-01 2003.11.14 2004.04.07 2001.08.15 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 21508266 2241717 WGSA-200403-chr19.chr19.NT_011109.15_14122270 4.38e-01 2004.03.20 2004.03.20 2001.08.15 2012.11.28 137 IMCJ-GDT 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 22887846 2241717 IMCJ-TGFB1_8-GT 4.38e-01 2004.03.22 2004.03.22 2001.08.15 2012.11.28 137 BCM_SSAHASNP 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 23009332 2241717 BCM_HTWF_SNPS_200403.chr19.NT_011109.15_14122270 4.38e-01 2004.03.22 2004.03.22 2001.08.15 2012.11.28 137 ABI 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 41051612 2241717 hCV11707839 4.38e-01 2005.07.17 2005.07.17 2001.08.15 2012.11.28 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 69367818 2241717 PS205524_PA144958133_101 4.38e-01 2007.03.22 2007.08.14 2001.08.15 2012.11.28 137 CGM_KYOTO 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 76866153 2241717 12000 4.38e-01 2007.09.12 2007.09.12 2001.08.15 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 78676224 2241717 Cor12878_SNV_20070510.chr19_46545892 4.38e-01 2007.10.20 2007.10.20 2001.08.15 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 85818228 2241717 Cor19129_SNV_20070510.chr19_46545892 4.38e-01 2007.12.10 2007.12.10 2001.08.15 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 90976624 2241717 JWB-1170441 4.38e-01 2008.03.01 2008.03.01 2001.08.15 2012.11.28 137 CNG 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 95210324 2241717 19139107 4.38e-01 2008.03.13 2008.03.13 2001.08.15 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 96268007 2241717 1103691147409 4.38e-01 2008.03.26 2008.03.26 2001.08.15 2012.11.28 137 BGI 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 106055542 2241717 BGI_rs2241717 4.38e-01 2008.09.13 2009.06.17 2001.08.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 111391346 2241717 CEU.trio.12.15.2008_3619801_chr19_46545892 4.38e-01 2008.12.17 2008.12.17 2001.08.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 115149654 2241717 NA19240_2008_12_16_3261269_chr19_46545892 4.38e-01 2008.12.19 2008.12.19 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 169769591 2241717 NA19240_36_chr19_46545892 4.38e-01 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 171771456 2241717 NA20431_36_chr19_46545892 4.38e-01 2009.10.01 2009.10.01 2001.08.15 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 203757616 2241717 BUSHMAN-chr19-46545891 4.38e-01 2010.03.09 2010.03.09 2001.08.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 228145065 2241717 pilot_1_YRI_9954748_chr19_46545892 4.38e-01 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 237681379 2241717 pilot_1_CEU_7286008_chr19_46545892 4.38e-01 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 243886501 2241717 pilot_1_CHB+JPT_5771578_chr19_46545892 4.38e-01 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 GMI 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 283213936 2241717 GMI_AK_SNP_7534357 4.38e-01 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 PJP 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 292179500 2241717 SNP_1685858_chr19_46545892 4.38e-01 2011.01.21 2011.01.21 2001.08.15 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 479943664 2241717 HumanOmni2.5-4v1_D_kgp12138933-0_B_R_1816522021 4.38e-01 2012.01.31 2012.01.31 2001.08.15 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854052C>A;NG_013364.1:g.10780G>T;NM_000660.4:c.516+148G>T 483829773 2241717 HumanOmni2.5-4v1_B_SNP19-46545892-0_B_R_1628416323 4.38e-01 2012.02.03 2012.02.03 2001.08.15 2012.11.28 137 YUSUKE 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 3197742 2241716 IMS-JST013664 1.24e-01 2001.08.07 2003.10.10 2001.08.15 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 15356546 2241716 IIPGA-TGFB1_8206 1.24e-01 2003.11.14 2004.04.07 2001.08.15 2012.11.28 137 SC_SNP 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 15448316 2241716 NT_011109.15_14122304 1.24e-01 2003.11.14 2006.10.25 2001.08.15 2012.11.28 137 IMCJ-GDT 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 22887845 2241716 IMCJ-TGFB1_7-AG 1.24e-01 2004.03.22 2004.03.22 2001.08.15 2012.11.28 137 AFFY 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 66095533 2241716 SNP_A-1959879 1.24e-01 2006.10.27 2007.08.14 2001.08.15 2012.11.28 137 SHGC 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 71640515 2241716 1984 1.24e-01 2007.04.27 2007.04.27 2001.08.15 2012.11.28 137 AFFY 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 76055464 2241716 AFFY_6_1M_SNP_A-1959879 1.24e-01 2007.08.29 2010.03.07 2001.08.15 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 81734706 2241716 KHS132466 1.24e-01 2007.12.01 2007.12.01 2001.08.15 2012.11.28 137 BGI 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 106055543 2241716 BGI_rs2241716 1.24e-01 2008.09.13 2009.06.17 2001.08.15 2012.11.28 137 GMI 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 155910824 2241716 GMI_SNP_367712003 1.24e-01 2009.06.24 2009.06.24 2001.08.15 2012.11.28 137 AFFY 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 172341159 2241716 GenomeWideSNP_5_SNP_A-1959879 1.24e-01 2009.10.02 2009.10.02 2001.08.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 228145066 2241716 pilot_1_YRI_9954749_chr19_46545926 1.24e-01 2010.04.22 2010.04.22 2001.08.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 243886502 2241716 pilot_1_CHB+JPT_5771579_chr19_46545926 1.24e-01 2010.05.01 2010.05.01 2001.08.15 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 244288460 2241716 CVDSNP55v1_A_rs2241716 1.24e-01 2010.06.10 2010.06.10 2001.08.15 2012.11.28 137 GMI 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 283213937 2241716 GMI_AK_SNP_7534358 1.24e-01 2010.12.16 2010.12.16 2001.08.15 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854086C>T;NG_013364.1:g.10746G>A;NM_000660.4:c.516+114G>A 410920853 2241716 Cardio-Metabo_Chip_11395247_A_rs2241716 1.24e-01 2011.06.07 2011.06.07 2001.08.15 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41854194C>A;NG_013364.1:g.10638G>T;NM_000660.4:c.516+6G>T 491256388 200301188 chr19_46546034 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41854197C>T;NG_013364.1:g.10635G>A;NM_000660.4:c.516+3G>A 491256389 201759678 chr19_46546037 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41854206C>T;NG_013364.1:g.10626G>A;NM_000660.4:c.510G>A;NP_000651.3:p.Leu170= 491256390 199678149 chr19_46546046 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41854250G>A;NG_013364.1:g.10582C>T;NM_000660.4:c.466C>T;NP_000651.3:p.Arg156Cys 491256391 200482214 chr19_46546090 pathogenic 2012.03.02 2012.03.02 2012.05.04 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.466C>T NC_000019.9:g.41854250G>A;NG_013364.1:g.10582C>T;NM_000660.4:c.466C>T;NP_000651.3:p.Arg156Cys 647514689 200482214 NM_000660.4:c.466C>T pathogenic 2012.12.12 2012.12.12 2012.05.04 2012.12.12 137 GSK-GENETICS 7040 NC_000019.9:g.41854262G>A;NG_013364.1:g.10570C>T;NM_000660.4:c.454C>T;NP_000651.3:p.Arg152Trp 491256392 201405597 chr19_46546102 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NHLBI-ESP 7040 NC_000019.9:g.41854274C>T;NG_013364.1:g.10558G>A;NM_000660.4:c.442G>A;NP_000651.3:p.Val148Met 342499260 142642007 ESP2500-chr19-41854274 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41854274C>T;NG_013364.1:g.10558G>A;NM_000660.4:c.442G>A;NP_000651.3:p.Val148Met 491256393 142642007 chr19_46546114 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41854275G>C;NG_013364.1:g.10557C>G;NM_000660.4:c.441C>G;NP_000651.3:p.Pro147= 491256394 200674778 chr19_46546115 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41854305T>A;NG_013364.1:g.10527A>T;NM_000660.4:c.411A>T;NP_000651.3:p.Thr137= 489167707 202071274 20110521_exome_257214_chr19_41854305 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41854317C>T;NG_013364.1:g.10515G>A;NM_000660.4:c.399G>A;NP_000651.3:p.Met133Ile 491256395 201567874 chr19_46546157 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41854320A>G;NG_013364.1:g.10512T>C;NM_000660.4:c.396T>C;NP_000651.3:p.Tyr132= 491256396 199696548 chr19_46546160 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 CLINSEQ_SNP 7040 NC_000019.9:g.41854321T>C;NG_013364.1:g.10511A>G;NM_000660.4:c.395A>G;NP_000651.3:p.Tyr132Cys 491767923 200481365 SNV-chr19-46546161 2012.03.07 2012.03.13 2012.05.04 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41854324A>G;NG_013364.1:g.10508T>C;NM_000660.4:c.392T>C;NP_000651.3:p.Ile131Thr 491256397 200652346 chr19_46546164 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 1000GENOMES 7040 NC_000019.9:g.41854344G>A;NG_013364.1:g.10488C>T;NM_000660.4:c.372C>T;NP_000651.3:p.Phe124= 489167709 201417808 20110521_exome_257215_chr19_41854344 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854362T>G;NG_013364.1:g.10470A>C;NM_000660.4:c.356-2A>C 169118535 113187927 Human1M-Duov3_B_GA034636-0_B_F_1533482230 2009.10.01 2009.10.01 2010.07.04 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41854379G>A;NG_013364.1:g.10453C>T;NM_000660.4:c.356-19C>T 491256398 201833222 chr19_46546219 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41854385C>A;NG_013364.1:g.10447G>T;NM_000660.4:c.356-25G>T 15356545 11466324 IIPGA-TGFB1_7907 1.05e-02 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854385C>A;NG_013364.1:g.10447G>T;NM_000660.4:c.356-25G>T 74968612 11466324 ILMN_Human_1M_rs11466324 1.05e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41854385C>A;NG_013364.1:g.10447G>T;NM_000660.4:c.356-25G>T 119683855 11466324 KHS1807194 1.05e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854385C>A;NG_013364.1:g.10447G>T;NM_000660.4:c.356-25G>T 171254210 11466324 Human1M-Duov3_B_rs11466324-128_T_R_1513920722 1.05e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854385C>A;NG_013364.1:g.10447G>T;NM_000660.4:c.356-25G>T 228145067 11466324 pilot_1_YRI_9954750_chr19_46546225 1.05e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854385C>A;NG_013364.1:g.10447G>T;NM_000660.4:c.356-25G>T 491159831 11466324 20110521_exome_667629_chr19_41854385 1.05e-02 2012.02.22 2012.02.22 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41854385C>A;NG_013364.1:g.10447G>T;NM_000660.4:c.356-25G>T 491256399 11466324 chr19_46546225 1.05e-02 2012.03.02 2012.03.02 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41854386G>A;NG_013364.1:g.10446C>T;NM_000660.4:c.356-26C>T 491256400 201227564 chr19_46546226 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41854387A>G;NG_013364.1:g.10445T>C;NM_000660.4:c.356-27T>C 491256401 201678831 chr19_46546227 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41854395T>G;NG_013364.1:g.10437A>C;NM_000660.4:c.356-35A>C 491256402 199904117 chr19_46546235 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41854406T>C;NG_013364.1:g.10426A>G;NM_000660.4:c.356-46A>G 491256403 201215345 chr19_46546246 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 HGSV 7040 NC_000019.9:g.41854481_41854484delTTTA;NG_013364.1:g.10348_10351delTAAA;NM_000660.4:c.356-124_356-121delTAAA 80780866 60262005 Cor12878_DIV_20070510.chr19_46546360-46546365_1 2007.11.26 2007.11.26 2007.12.15 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41854481delT;NC_000019.9:g.41854481delTinsTTTA;NG_013364.1:g.10351delA;NG_013364.1:g.10351delAinsTAAA;NM_000660.4:c.356-121delA;NM_000660.4:c.356-121delAinsTAAA 101180595 72173990 INDEL_GP36_2008a_2483025_0 2008.05.17 2008.05.17 2009.02.13 2011.09.09 137 BCMHGSC_JDW 7040 NC_000019.9:g.41854481_41854484delTTTA;NG_013364.1:g.10348_10351delTAAA;NM_000660.4:c.356-124_356-121delTAAA 103616999 60262005 JWB-4066409 2008.06.06 2009.05.11 2007.12.15 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41854481delT;NC_000019.9:g.41854481delTinsTTTA;NG_013364.1:g.10351delA;NG_013364.1:g.10351delAinsTAAA;NM_000660.4:c.356-121delA;NM_000660.4:c.356-121delAinsTAAA 193511805 72173990 BUSHMAN-chr19-46546320-46546324 2010.02.16 2010.02.16 2009.02.13 2011.09.09 137 GMI 7040 NC_000019.9:g.41854481_41854484delTTTA;NG_013364.1:g.10348_10351delTAAA;NM_000660.4:c.356-124_356-121delTAAA 289389096 60262005 GMI_AK_INDEL_1066554 2010.12.30 2011.12.30 2007.12.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854481_41854484delTTTA;NG_013364.1:g.10348_10351delTAAA;NM_000660.4:c.356-124_356-121delTAAA 327905878 60262005 JPTCHB_chr19_46546320_indel 2011.03.13 2011.04.03 2007.12.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854481_41854484delTTTA;NG_013364.1:g.10348_10351delTAAA;NM_000660.4:c.356-124_356-121delTAAA 328033686 60262005 CEU_chr19_46546320_indel 2011.03.13 2011.04.03 2007.12.15 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41854482delT;NC_000019.9:g.41854482delTinsTTATTTAT;NG_013364.1:g.10350delA;NG_013364.1:g.10350delAinsATAAATAA;NM_000660.4:c.356-122delA;NM_000660.4:c.356-122delAinsATAAATAA 100590198 71997131 INDEL_GP36_2008a_2790928_0 2008.05.17 2008.05.17 2009.02.13 2011.07.08 137 HGSV 7040 NC_000019.9:g.41854485_41854492delTTTATTTA;NG_013364.1:g.10340_10347delTAAATAAA;NM_000660.4:c.356-132_356-125delTAAATAAA 81860201 59416536 Cor19129_DIV_20070510.chr19_46546356-46546365_1 2007.12.01 2007.12.01 2007.12.15 2011.07.08 137 HGSV 7040 NC_000019.9:g.41854485_41854492delTTTATTTA;NG_013364.1:g.10340_10347delTAAATAAA;NM_000660.4:c.356-132_356-125delTAAATAAA 81864473 59416536 Cor19129_DIV_20070510.chr19_46546356-46546365_2 2007.12.01 2007.12.01 2007.12.15 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41854485delT;NC_000019.9:g.41854485delTinsTTTATTTA;NG_013364.1:g.10347delA;NG_013364.1:g.10347delAinsTAAATAAA;NM_000660.4:c.356-125delA;NM_000660.4:c.356-125delAinsTAAATAAA 102219370 72382742 INDEL_GP36_2008a_2788032_0 2008.05.18 2008.05.18 2009.02.13 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41854533_41854534insA;NG_013364.1:g.10298_10299insT;NM_000660.4:c.356-174_356-173insT 499582421 201556598 20110316_indels_chr19_41854533_41854534 4.46e-01 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 12465018 8108632 chr19.NT_011109.15_14122752 4.85e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 21518539 8108632 WGSA-200403-chr19.chr19.NT_011109.15_14122752 4.85e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 ABI 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 40987415 8108632 hCV31639716 4.85e-01 2005.07.17 2005.07.17 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 77159850 8108632 Cor12156_SNV_20070510.chr19_46546374 4.85e-01 2007.10.09 2007.10.11 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 78061403 8108632 Cor12878_SNV_20070510.chr19_46546374 4.85e-01 2007.10.17 2007.10.17 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 84295476 8108632 Cor19129_SNV_20070510.chr19_46546374 4.85e-01 2007.12.06 2007.12.06 2003.07.11 2012.11.28 137 GMI 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 283213938 8108632 GMI_AK_SNP_7534359 4.85e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 292179501 8108632 SNP_1685859_chr19_46546374 4.85e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854534T>A;NG_013364.1:g.10298A>T;NM_000660.4:c.356-174A>T 340469760 8108632 20100804_snps_12113301_chr19_41854534 4.85e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854537T>A;NG_013364.1:g.10295A>T;NM_000660.4:c.356-177A>T 85548604 58675726 Cor19129_SNV_20070510.chr19_46546377 1.01e-02 2007.12.09 2007.12.09 2007.12.15 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854537T>A;NG_013364.1:g.10295A>T;NM_000660.4:c.356-177A>T 465599007 58675726 20101123_snps_11766237_chr19_41854537 1.01e-02 2011.07.20 2011.07.20 2007.12.15 2012.11.28 137 BCM_SSAHASNP 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 10934864 6508976 chr19.NT_011109.15_14122892 4.76e-01 2003.06.30 2003.10.10 2003.07.11 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 12465221 6508976 chr19.NT_011109.15_14122892 4.76e-01 2003.07.04 2003.10.10 2003.07.11 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 15356544 6508976 IIPGA-TGFB1_7618 4.76e-01 2003.11.14 2004.04.07 2003.07.11 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 17616734 6508976 CSHL-HuCC-200402.chr19.NT_011109.15_14122892 4.76e-01 2004.02.19 2004.03.04 2003.07.11 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 21519508 6508976 WGSA-200403-chr19.chr19.NT_011109.15_14122892 4.76e-01 2004.03.20 2004.03.20 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 77829626 6508976 Cor12156_SNV_20070510.chr19_46546514 4.76e-01 2007.10.14 2007.10.14 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 78824053 6508976 Cor12878_SNV_20070510.chr19_46546514 4.76e-01 2007.10.20 2007.10.20 2003.07.11 2012.11.28 137 HGSV 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 86009186 6508976 Cor19129_SNV_20070510.chr19_46546514 4.76e-01 2007.12.10 2007.12.10 2003.07.11 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 90976626 6508976 JWB-1170442 4.76e-01 2008.03.01 2008.03.01 2003.07.11 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 96268008 6508976 1103691147411 4.76e-01 2008.03.26 2008.03.26 2003.07.11 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 136262352 6508976 ENSSNP1531695 4.76e-01 2009.05.15 2009.10.15 2003.07.11 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 137680605 6508976 ENSSNP6225691 4.76e-01 2009.05.16 2009.05.16 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 168214497 6508976 NA07022_36_chr19_46546514 4.76e-01 2009.09.30 2009.09.30 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 169769602 6508976 NA19240_36_chr19_46546514 4.76e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 171771466 6508976 NA20431_36_chr19_46546514 4.76e-01 2009.10.01 2009.10.01 2003.07.11 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 203757617 6508976 BUSHMAN-chr19-46546513 4.76e-01 2010.03.09 2010.03.09 2003.07.11 2012.11.28 137 GMI 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 283213939 6508976 GMI_AK_SNP_7534360 4.76e-01 2010.12.16 2010.12.16 2003.07.11 2012.11.28 137 PJP 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 292179502 6508976 SNP_1685860_chr19_46546514 4.76e-01 2011.01.21 2011.01.21 2003.07.11 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854674T>A;NC_000019.9:g.41854674T>G;NG_013364.1:g.10158A>C;NG_013364.1:g.10158A>T;NM_000660.4:c.356-314A>C;NM_000660.4:c.356-314A>T 340469761 6508976 20100804_snps_12113302_chr19_41854674 4.76e-01 2011.03.22 2011.03.22 2003.07.11 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41854773C>T;NG_013364.1:g.10059G>A;NM_000660.4:c.356-413G>A 12463971 8108052 chr19.NT_011109.15_14122991 1.14e-02 2003.07.04 2003.10.10 2003.07.11 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41854773C>T;NG_013364.1:g.10059G>A;NM_000660.4:c.356-413G>A 15356543 8108052 IIPGA-TGFB1_7519 1.14e-02 2003.11.14 2004.04.07 2003.07.11 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41854773C>T;NG_013364.1:g.10059G>A;NM_000660.4:c.356-413G>A 340469762 8108052 20100804_snps_12113303_chr19_41854773 1.14e-02 2011.03.22 2011.03.22 2003.07.11 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41854775C>T;NG_013364.1:g.10057G>A;NM_000660.4:c.356-415G>A 465599008 182190174 20101123_snps_11766238_chr19_41854775 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 ABI 7040 NC_000019.9:g.41854818_41854819insG;NG_013364.1:g.10013_10014insC;NM_000660.4:c.356-459_356-458insC 41040862 34971127 hCV33846236 2005.07.17 2005.07.17 2006.03.14 2011.07.08 137 BUSHMAN 7040 NC_000019.9:g.41854819G>A;NG_013364.1:g.10013C>T;NM_000660.4:c.356-459C>T 203757618 112007605 BUSHMAN-chr19-46546658 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 15356542 11466321 IIPGA-TGFB1_7376 4.53e-02 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 74988828 11466321 ILMN_Human_1M_rs11466321 4.53e-02 2007.08.29 2007.08.29 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 111391362 11466321 CEU.trio.12.15.2008_3619803_chr19_46546756 4.53e-02 2008.12.17 2008.12.17 2004.02.28 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 119683854 11466321 KHS1807193 4.53e-02 2009.02.05 2009.02.05 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 159978163 11466321 HumanOmni1-Quad_v1-0_B_rs11466321-128_T_R_1513955830 4.53e-02 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 168214509 11466321 NA07022_36_chr19_46546756 4.53e-02 2009.09.30 2009.09.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 171254200 11466321 Human1M-Duov3_B_rs11466321-128_T_R_1513955830 4.53e-02 2009.10.01 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 228145068 11466321 pilot_1_YRI_9954751_chr19_46546756 4.53e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 237681380 11466321 pilot_1_CEU_7286009_chr19_46546756 4.53e-02 2010.05.01 2010.05.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 479520563 11466321 HumanOmni2.5-4v1_B_rs11466321-128_T_R_1630063564 4.53e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 479524400 11466321 HumanOmniExpress-12v1_C_rs11466321-131_T_R_1858938499 4.53e-02 2012.01.30 2012.01.30 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 479978460 11466321 HumanOmni1-Quad_v1-0_C_rs11466321-131_T_R_1858938499 4.53e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41854916A>G;NG_013364.1:g.9916T>C;NM_000660.4:c.356-556T>C 484559411 11466321 HumanOmni2.5-4v1_D_rs11466321-131_T_R_1858938499 4.53e-02 2012.02.04 2012.02.04 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41855110A>T;NG_013364.1:g.9722T>A;NM_000660.4:c.356-750T>A 237681381 117032873 pilot_1_CEU_7286010_chr19_46546950 9.00e-04 2010.05.01 2010.05.01 2010.07.15 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41855191C>T;NG_013364.1:g.9641G>A;NM_000660.4:c.356-831G>A 465599009 187628467 20101123_snps_11766239_chr19_41855191 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41855204C>T;NG_013364.1:g.9628G>A;NM_000660.4:c.356-844G>A 15356541 11466320 IIPGA-TGFB1_7088 2003.11.14 2003.11.22 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41855205G>A;NG_013364.1:g.9627C>T;NM_000660.4:c.356-845C>T 465599010 190309980 20101123_snps_11766240_chr19_41855205 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41855217T>C;NG_013364.1:g.9615A>G;NM_000660.4:c.356-857A>G 465599011 182183739 20101123_snps_11766241_chr19_41855217 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 10941121 7258445 chr19.NT_011109.15_14123733 4.38e-01 non-pathogenic 2003.06.30 2003.11.10 2003.07.11 2013.01.31 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 15356540 7258445 IIPGA-TGFB1_6777 4.38e-01 non-pathogenic 2003.11.14 2004.04.07 2003.07.11 2013.01.31 137 CSHL-HAPMAP 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 17626232 7258445 CSHL-HuCC-200402.chr19.NT_011109.15_14123733 4.38e-01 non-pathogenic 2004.02.19 2004.03.04 2003.07.11 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 21542891 7258445 WGSA-200403-chr19.chr19.NT_011109.15_14123733 4.38e-01 non-pathogenic 2004.03.20 2004.03.20 2003.07.11 2013.01.31 137 BCMHGSC_JDW 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 90976628 7258445 JWB-1170443 4.38e-01 non-pathogenic 2008.03.01 2008.03.01 2003.07.11 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 96268009 7258445 1103691147412 4.38e-01 non-pathogenic 2008.03.26 2008.03.26 2003.07.11 2013.01.31 137 BGI 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 106055544 7258445 BGI_rs7258445 4.38e-01 non-pathogenic 2008.09.13 2009.06.17 2003.07.11 2013.01.31 137 ILLUMINA-UK 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 117709345 7258445 NA18507_000047214_NCBI36.1_chr19_46547355 4.38e-01 non-pathogenic 2009.01.20 2009.01.20 2003.07.11 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 136262350 7258445 ENSSNP1531696 4.38e-01 non-pathogenic 2009.05.15 2009.10.15 2003.07.11 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 137680609 7258445 ENSSNP6828797 4.38e-01 non-pathogenic 2009.05.16 2009.05.16 2003.07.11 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 168214520 7258445 NA07022_36_chr19_46547355 4.38e-01 non-pathogenic 2009.09.30 2009.09.30 2003.07.11 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 169769618 7258445 NA19240_36_chr19_46547355 4.38e-01 non-pathogenic 2009.10.01 2009.10.01 2003.07.11 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 171771474 7258445 NA20431_36_chr19_46547355 4.38e-01 non-pathogenic 2009.10.01 2009.10.01 2003.07.11 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 203757619 7258445 BUSHMAN-chr19-46547354 4.38e-01 non-pathogenic 2010.03.09 2010.03.09 2003.07.11 2013.01.31 137 GMI 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 283213940 7258445 GMI_AK_SNP_7534361 4.38e-01 non-pathogenic 2010.12.16 2010.12.16 2003.07.11 2013.01.31 137 PJP 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 292179503 7258445 SNP_1685861_chr19_46547355 4.38e-01 non-pathogenic 2011.01.21 2011.01.21 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 340469764 7258445 20100804_snps_12113305_chr19_41855515 4.38e-01 non-pathogenic 2011.03.22 2011.03.22 2003.07.11 2013.01.31 137 GENEREVIEWS 7040 NM_000660.4:c.355+3080C>T NC_000019.9:g.41855515G>A;NG_013364.1:g.9317C>T;NM_000660.4:c.355+3080C>T 647514682 7258445 NM_000660.4:c.355+3080C>T 4.38e-01 non-pathogenic 2012.12.12 2012.12.12 2003.07.11 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41855523A>G;NG_013364.1:g.9309T>C;NM_000660.4:c.356-1163T>C 340469765 145673619 20100804_snps_12113306_chr19_41855523 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41855535G>A;NG_013364.1:g.9297C>T;NM_000660.4:c.356-1175C>T 340469766 147711159 20100804_snps_12113307_chr19_41855535 1.40e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41855553T>C;NG_013364.1:g.9279A>G;NM_000660.4:c.356-1193A>G 465599012 186059489 20101123_snps_11766242_chr19_41855553 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 BCM_SSAHASNP 7040 NC_000019.9:g.41855637G>T;NG_013364.1:g.9195C>A;NM_000660.4:c.356-1277C>A 13563924 9749548 chr19.NT_011109.15_14123855 2003.11.05 2003.11.22 2003.12.05 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41855695G>A;NG_013364.1:g.9137C>T;NM_000660.4:c.356-1335C>T 228145069 78430764 pilot_1_YRI_9954752_chr19_46547535 1.05e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 BCMHGSC_JDW 7040 NC_000019.9:g.41855932C>T;NG_013364.1:g.8900G>A;NM_000660.4:c.356-1572G>A 90976631 62120999 JWB-2966632 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41855932C>T;NG_013364.1:g.8900G>A;NM_000660.4:c.356-1572G>A 137680612 62120999 ENSSNP11447791 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 ABI 7040 NC_000019.9:g.41856179_41856180insG;NG_013364.1:g.8652_8653insC;NM_000660.4:c.356-1820_356-1819insC 41010914 35976994 hCV33846237 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41856199_41856200insGT;NG_013364.1:g.8632_8633insAC;NM_000660.4:c.356-1840_356-1839insAC 499582426 200502589 20110316_indels_chr19_41856199_41856200 1.42e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HGSV 7040 NC_000019.9:g.41856213delT;NG_013364.1:g.8619delA;NM_000660.4:c.356-1853delA 77943432 55873066 Cor12156_DIV_20070510.chr19_46548070-46548072_1 2007.10.16 2007.10.16 2007.12.06 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41856213delT;NG_013364.1:g.8619delA;NM_000660.4:c.356-1853delA 95729062 55873066 1104685412630 2008.03.23 2008.12.03 2007.12.06 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41856213delT;NC_000019.9:g.41856213delTinsTT;NG_013364.1:g.8619delA;NG_013364.1:g.8619delAinsAA;NM_000660.4:c.356-1853delA;NM_000660.4:c.356-1853delAinsAA 100780343 67208703 INDEL_GP36_2008a_1689735_0 2008.05.17 2008.05.17 2009.02.05 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41856213delT;NC_000019.9:g.41856213delTinsTT;NG_013364.1:g.8619delA;NG_013364.1:g.8619delAinsAA;NM_000660.4:c.356-1853delA;NM_000660.4:c.356-1853delAinsAA 100780345 67208703 INDEL_GP36_2008a_1689735_1 2008.05.17 2008.05.17 2009.02.05 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41856213delT;NC_000019.9:g.41856213delTinsTT;NG_013364.1:g.8619delA;NG_013364.1:g.8619delAinsAA;NM_000660.4:c.356-1853delA;NM_000660.4:c.356-1853delAinsAA 100780348 67208703 INDEL_GP36_2008a_1689735_2 2008.05.17 2008.05.17 2009.02.05 2012.05.16 137 BUSHMAN 7040 NC_000019.9:g.41856213delT;NC_000019.9:g.41856213delTinsTT;NG_013364.1:g.8619delA;NG_013364.1:g.8619delAinsAA;NM_000660.4:c.356-1853delA;NM_000660.4:c.356-1853delAinsAA 193511807 67208703 BUSHMAN-chr19-46548052-46548054 2010.02.16 2010.02.16 2009.02.05 2012.05.16 137 PJP 7040 NC_000019.9:g.41856213delT;NG_013364.1:g.8619delA;NM_000660.4:c.356-1853delA 294963437 55873066 DIP_401141_chr19_46548053 2011.01.22 2011.01.22 2007.12.06 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41856223delT;NC_000019.9:g.41856223delTinsTT;NG_013364.1:g.8609delA;NG_013364.1:g.8609delAinsAA;NM_000660.4:c.356-1863delA;NM_000660.4:c.356-1863delAinsAA 100036796 67274870 INDEL_GP36_2008a_1278775_0 2008.05.16 2008.05.16 2009.02.05 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41856223delT;NC_000019.9:g.41856223delTinsTT;NG_013364.1:g.8609delA;NG_013364.1:g.8609delAinsAA;NM_000660.4:c.356-1863delA;NM_000660.4:c.356-1863delAinsAA 100036797 67274870 INDEL_GP36_2008a_1278775_1 2008.05.16 2008.05.16 2009.02.05 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41856223delT;NC_000019.9:g.41856223delTinsTT;NG_013364.1:g.8609delA;NG_013364.1:g.8609delAinsAA;NM_000660.4:c.356-1863delA;NM_000660.4:c.356-1863delAinsAA 100504795 67274870 INDEL_GP36_2008a_2721522_0 2008.05.16 2008.05.16 2009.02.05 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41856625_41856626insG;NG_013364.1:g.8206_8207insC;NM_000660.4:c.355+1969_355+1970insC 15288792 11403932 INDEL_GP34_WGS_428798 2003.11.13 2003.11.22 2004.02.28 2011.07.08 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41856784G>A;NG_013364.1:g.8048C>T;NM_000660.4:c.355+1811C>T 171771485 111403414 NA20431_36_chr19_46548624 1.14e-02 2009.10.01 2009.10.01 2010.07.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41856784G>A;NG_013364.1:g.8048C>T;NM_000660.4:c.355+1811C>T 237681383 111403414 pilot_1_CEU_7286012_chr19_46548624 1.14e-02 2010.05.01 2010.05.01 2010.07.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41856792A>T;NG_013364.1:g.8040T>A;NM_000660.4:c.355+1803T>A 465599013 190286229 20101123_snps_11766243_chr19_41856792 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 YUSUKE 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 3197741 2241715 IMS-JST013663 3.71e-01 non-pathogenic 2001.08.07 2003.10.10 2001.08.15 2013.01.31 137 WI_SSAHASNP 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 12458065 2241715 chr19.NT_011109.15_14125104 3.71e-01 non-pathogenic 2003.07.04 2004.05.17 2001.08.15 2013.01.31 137 CSHL-HAPMAP 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 16790113 2241715 CSHL-HuAA-200402.chr19.NT_011109.15_14125104 3.71e-01 non-pathogenic 2004.02.18 2004.03.04 2001.08.15 2013.01.31 137 CSHL-HAPMAP 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 19397366 2241715 CSHL-HuDD-200402.chr19.NT_011109.15_14125104 3.71e-01 non-pathogenic 2004.02.21 2004.03.04 2001.08.15 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 21542093 2241715 WGSA-200403-chr19.chr19.NT_011109.15_14125104 3.71e-01 non-pathogenic 2004.03.20 2004.03.20 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 66556423 2241715 HumanHap300v1.1_rs2241715 3.71e-01 non-pathogenic 2006.11.09 2006.11.09 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 67236962 2241715 HumanHap550v1.1_rs2241715 3.71e-01 non-pathogenic 2006.11.14 2006.11.14 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 67633205 2241715 HumanHap650Yv1.0_rs2241715 3.71e-01 non-pathogenic 2006.11.14 2006.11.14 2001.08.15 2013.01.31 137 PERLEGEN 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 69228626 2241715 PGP03977939 3.71e-01 non-pathogenic 2007.01.30 2007.08.14 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 70715290 2241715 HumanHap550v3.0__rs2241715 3.71e-01 non-pathogenic 2007.04.20 2008.03.30 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 71283116 2241715 HumanHap650Yv3.0_rs2241715 3.71e-01 non-pathogenic 2007.04.23 2007.04.23 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 75547594 2241715 ILMN_Human_1M_rs2241715 3.71e-01 non-pathogenic 2007.08.29 2007.08.29 2001.08.15 2013.01.31 137 HGSV 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 77327439 2241715 Cor12156_SNV_20070510.chr19_46548726 3.71e-01 non-pathogenic 2007.10.10 2007.10.12 2001.08.15 2013.01.31 137 HGSV 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 78837470 2241715 Cor18507_SNV_20070510.chr19_46548726 3.71e-01 non-pathogenic 2007.10.20 2007.10.20 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 79122745 2241715 HumanHap300v2.0_rs2241715 3.71e-01 non-pathogenic 2007.11.18 2007.11.18 2001.08.15 2013.01.31 137 KRIBB_YJKIM 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 84006131 2241715 KHS599530 3.71e-01 non-pathogenic 2007.12.06 2007.12.06 2001.08.15 2013.01.31 137 BCMHGSC_JDW 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 90976633 2241715 JWB-1170444 3.71e-01 non-pathogenic 2008.03.01 2008.03.01 2001.08.15 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 96268010 2241715 1103691147413 3.71e-01 non-pathogenic 2008.03.26 2008.03.26 2001.08.15 2013.01.31 137 BGI 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 106055545 2241715 BGI_rs2241715 3.71e-01 non-pathogenic 2008.09.13 2009.06.17 2001.08.15 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 111391386 2241715 CEU.trio.12.15.2008_3619806_chr19_46548726 3.71e-01 non-pathogenic 2008.12.17 2008.12.17 2001.08.15 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 115149670 2241715 NA19240_2008_12_16_3261271_chr19_46548726 3.71e-01 non-pathogenic 2008.12.19 2008.12.19 2001.08.15 2013.01.31 137 ILLUMINA-UK 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 117709347 2241715 NA18507_000047215_NCBI36.1_chr19_46548726 3.71e-01 non-pathogenic 2009.01.20 2009.01.20 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 121963150 2241715 HumanCNV370v1_C_rs2241715 3.71e-01 non-pathogenic 2009.04.14 2009.04.14 2001.08.15 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 136262346 2241715 ENSSNP1531697 3.71e-01 non-pathogenic 2009.05.15 2009.10.15 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 153892344 2241715 Human610_Quadv1_B_rs2241715-128_B_F_1501716186 3.71e-01 non-pathogenic 2009.06.19 2009.06.20 2001.08.15 2013.01.31 137 GMI 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 155910834 2241715 GMI_SNP_241036566 3.71e-01 non-pathogenic 2009.06.24 2009.06.24 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 159371602 2241715 Human660W-Quad_v1_A_rs2241715-128_B_F_1501716186 3.71e-01 non-pathogenic 2009.07.07 2009.07.07 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 160520340 2241715 HumanOmni1-Quad_v1-0_B_rs2241715-128_B_F_1501716186 3.71e-01 non-pathogenic 2009.08.06 2009.10.02 2001.08.15 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 168214533 2241715 NA07022_36_chr19_46548726 3.71e-01 non-pathogenic 2009.09.30 2009.09.30 2001.08.15 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 169769631 2241715 NA19240_36_chr19_46548726 3.71e-01 non-pathogenic 2009.10.01 2009.10.01 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 171116234 2241715 HumanCNV370-Quadv3_C_rs2241715-128_B_F_1501716186 3.71e-01 non-pathogenic 2009.10.01 2009.10.03 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 173207751 2241715 Human1M-Duov3_B_rs2241715-128_B_F_1501716186 3.71e-01 non-pathogenic 2009.10.03 2009.10.03 2001.08.15 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 203757620 2241715 BUSHMAN-chr19-46548725 3.71e-01 non-pathogenic 2010.03.09 2010.03.09 2001.08.15 2013.01.31 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 208455605 2241715 BCM_CMT_1011-3109358 3.71e-01 non-pathogenic 2010.03.19 2010.03.19 2001.08.15 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 228145071 2241715 pilot_1_YRI_9954754_chr19_46548726 3.71e-01 non-pathogenic 2010.04.22 2010.04.22 2001.08.15 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 237681384 2241715 pilot_1_CEU_7286013_chr19_46548726 3.71e-01 non-pathogenic 2010.05.01 2010.05.01 2001.08.15 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 243886506 2241715 pilot_1_CHB+JPT_5771583_chr19_46548726 3.71e-01 non-pathogenic 2010.05.01 2010.05.01 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 244288459 2241715 CVDSNP55v1_A_rs2241715 3.71e-01 non-pathogenic 2010.06.10 2010.06.10 2001.08.15 2013.01.31 137 GMI 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 283213941 2241715 GMI_AK_SNP_7534362 3.71e-01 non-pathogenic 2010.12.16 2010.12.16 2001.08.15 2013.01.31 137 PJP 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 292179504 2241715 SNP_1685862_chr19_46548726 3.71e-01 non-pathogenic 2011.01.21 2011.01.21 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 410920852 2241715 Cardio-Metabo_Chip_11395247_A_rs2241715 3.71e-01 non-pathogenic 2011.06.07 2011.06.07 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 480480860 2241715 HumanOmni2.5-4v1_B_rs2241715-128_B_F_1617218670 3.71e-01 non-pathogenic 2012.01.31 2012.01.31 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 480495218 2241715 HumanOmniExpress-12v1_C_rs2241715-131_B_F_1858937305 3.71e-01 non-pathogenic 2012.01.31 2012.01.31 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 481295693 2241715 HumanOmni1-Quad_v1-0_C_rs2241715-131_B_F_1858937305 3.71e-01 non-pathogenic 2012.01.31 2012.01.31 2001.08.15 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 485037920 2241715 HumanOmni2.5-4v1_D_rs2241715-131_B_F_1858937305 3.71e-01 non-pathogenic 2012.02.04 2012.02.04 2001.08.15 2013.01.31 137 GENEREVIEWS 7040 NM_000660.4:c.355+1709T>G NC_000019.9:g.41856886A>C;NG_013364.1:g.7946T>G;NM_000660.4:c.355+1709T>G 647514681 2241715 NM_000660.4:c.355+1709T>G 3.71e-01 non-pathogenic 2012.12.12 2012.12.12 2001.08.15 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857017G>A;NG_013364.1:g.7815C>T;NM_000660.4:c.355+1578C>T 465599014 181095861 20101123_snps_11766244_chr19_41857017 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41857125G>A;NG_013364.1:g.7707C>T;NM_000660.4:c.355+1470C>T 465599015 185393633 20101123_snps_11766245_chr19_41857125 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41857138G>T;NG_013364.1:g.7694C>A;NM_000660.4:c.355+1457C>A 340469767 142560157 20100804_snps_12113308_chr19_41857138 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41857264C>T;NG_013364.1:g.7568G>A;NM_000660.4:c.355+1331G>A 465599016 189709530 20101123_snps_11766246_chr19_41857264 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41857277C>T;NG_013364.1:g.7555G>A;NM_000660.4:c.355+1318G>A 340469768 146504446 20100804_snps_12113309_chr19_41857277 8.70e-03 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 CSHL-HAPMAP 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 19405614 12462166 CSHL-HuDD-200402.chr19.NT_011109.15_14125622 3.58e-01 non-pathogenic 2004.02.21 2004.03.04 2004.02.28 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 21553773 12462166 WGSA-200403-chr19.chr19.NT_011109.15_14125622 3.58e-01 non-pathogenic 2004.03.20 2004.03.20 2004.02.28 2013.01.31 137 HGSV 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 80871516 12462166 Cor18507_SNV_20070510.chr19_46549244 3.58e-01 non-pathogenic 2007.11.27 2007.11.27 2004.02.28 2013.01.31 137 HGSV 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 84777072 12462166 Cor19240_SNV_20070510.chr19_46549244 3.58e-01 non-pathogenic 2007.12.07 2007.12.07 2004.02.28 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 96268011 12462166 1103691147414 3.58e-01 non-pathogenic 2008.03.26 2008.03.26 2004.02.28 2013.01.31 137 BGI 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 106055546 12462166 BGI_rs12462166 3.58e-01 non-pathogenic 2008.09.13 2009.06.17 2004.02.28 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 111391394 12462166 CEU.trio.12.15.2008_3619807_chr19_46549244 3.58e-01 non-pathogenic 2008.12.17 2008.12.17 2004.02.28 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 136262344 12462166 ENSSNP1531698 3.58e-01 non-pathogenic 2009.05.15 2009.10.15 2004.02.28 2013.01.31 137 GMI 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 155910840 12462166 GMI_SNP_135208601 3.58e-01 non-pathogenic 2009.06.24 2009.06.24 2004.02.28 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 168214539 12462166 NA07022_36_chr19_46549244 3.58e-01 non-pathogenic 2009.09.30 2009.09.30 2004.02.28 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 169769642 12462166 NA19240_36_chr19_46549244 3.58e-01 non-pathogenic 2009.10.01 2009.10.01 2004.02.28 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 203757621 12462166 BUSHMAN-chr19-46549243 3.58e-01 non-pathogenic 2010.03.09 2010.03.09 2004.02.28 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 211965421 12462166 YRI.trio.3.2010_1441635_chr19_46549244 3.58e-01 non-pathogenic 2010.03.31 2010.03.31 2004.02.28 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 228145072 12462166 pilot_1_YRI_9954755_chr19_46549244 3.58e-01 non-pathogenic 2010.04.22 2010.04.22 2004.02.28 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 237681385 12462166 pilot_1_CEU_7286014_chr19_46549244 3.58e-01 non-pathogenic 2010.05.01 2010.05.01 2004.02.28 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 243886507 12462166 pilot_1_CHB+JPT_5771584_chr19_46549244 3.58e-01 non-pathogenic 2010.05.01 2010.05.01 2004.02.28 2013.01.31 137 GMI 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 283213942 12462166 GMI_AK_SNP_7534363 3.58e-01 non-pathogenic 2010.12.16 2010.12.16 2004.02.28 2013.01.31 137 PJP 7040 NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 292179505 12462166 SNP_1685863_chr19_46549244 3.58e-01 non-pathogenic 2011.01.21 2011.01.21 2004.02.28 2013.01.31 137 GENEREVIEWS 7040 NM_000660.4:c.355+1191A>G NC_000019.9:g.41857404T>C;NG_013364.1:g.7428A>G;NM_000660.4:c.355+1191A>G 647514680 12462166 NM_000660.4:c.355+1191A>G 3.58e-01 non-pathogenic 2012.12.12 2012.12.12 2004.02.28 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 21548899 12983775 WGSA-200403-chr19.chr19.NT_011109.15_14125657 3.68e-01 non-pathogenic 2004.03.20 2004.03.20 2004.04.05 2013.01.31 137 HGSV 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 81285596 12983775 Cor18507_SNV_20070510.chr19_46549279 3.68e-01 non-pathogenic 2007.11.29 2007.11.29 2004.04.05 2013.01.31 137 HGSV 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 82516310 12983775 Cor19240_SNV_20070510.chr19_46549279 3.68e-01 non-pathogenic 2007.12.03 2007.12.03 2004.04.05 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 96268012 12983775 1103691147415 3.68e-01 non-pathogenic 2008.03.26 2008.03.26 2004.04.05 2013.01.31 137 BGI 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 106055547 12983775 BGI_rs12983775 3.68e-01 non-pathogenic 2008.09.13 2009.06.17 2004.04.05 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 111391396 12983775 CEU.trio.12.15.2008_3619808_chr19_46549279 3.68e-01 non-pathogenic 2008.12.17 2008.12.17 2004.04.05 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 115149681 12983775 NA19240_2008_12_16_3261272_chr19_46549279 3.68e-01 non-pathogenic 2008.12.19 2008.12.19 2004.04.05 2013.01.31 137 ILLUMINA-UK 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 117709349 12983775 NA18507_000047216_NCBI36.1_chr19_46549279 3.68e-01 non-pathogenic 2009.01.20 2009.01.20 2004.04.05 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 136262341 12983775 ENSSNP1531699 3.68e-01 non-pathogenic 2009.05.15 2009.10.15 2004.04.05 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 137680614 12983775 ENSSNP11447792 3.68e-01 non-pathogenic 2009.05.16 2009.05.16 2004.04.05 2013.01.31 137 GMI 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 155910848 12983775 GMI_SNP_74248188 3.68e-01 non-pathogenic 2009.06.24 2009.06.24 2004.04.05 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 168214551 12983775 NA07022_36_chr19_46549279 3.68e-01 non-pathogenic 2009.09.30 2009.09.30 2004.04.05 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 169769661 12983775 NA19240_36_chr19_46549279 3.68e-01 non-pathogenic 2009.10.01 2009.10.01 2004.04.05 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 171771493 12983775 NA20431_36_chr19_46549279 3.68e-01 non-pathogenic 2009.10.01 2009.10.01 2004.04.05 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 203757622 12983775 BUSHMAN-chr19-46549278 3.68e-01 non-pathogenic 2010.03.09 2010.03.09 2004.04.05 2013.01.31 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 208550812 12983775 BCM_CMT_1011-3141598 3.68e-01 non-pathogenic 2010.03.19 2010.03.19 2004.04.05 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 228145073 12983775 pilot_1_YRI_9954756_chr19_46549279 3.68e-01 non-pathogenic 2010.04.22 2010.04.22 2004.04.05 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 237681386 12983775 pilot_1_CEU_7286015_chr19_46549279 3.68e-01 non-pathogenic 2010.05.01 2010.05.01 2004.04.05 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 243886508 12983775 pilot_1_CHB+JPT_5771585_chr19_46549279 3.68e-01 non-pathogenic 2010.05.01 2010.05.01 2004.04.05 2013.01.31 137 GMI 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 283213943 12983775 GMI_AK_SNP_7534364 3.68e-01 non-pathogenic 2010.12.16 2010.12.16 2004.04.05 2013.01.31 137 PJP 7040 NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 292179506 12983775 SNP_1685864_chr19_46549279 3.68e-01 non-pathogenic 2011.01.21 2011.01.21 2004.04.05 2013.01.31 137 GENEREVIEWS 7040 NM_000660.4:c.355+1156C>T NC_000019.9:g.41857439G>A;NG_013364.1:g.7393C>T;NM_000660.4:c.355+1156C>T 647514679 12983775 NM_000660.4:c.355+1156C>T 3.68e-01 non-pathogenic 2012.12.12 2012.12.12 2004.04.05 2013.01.31 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41857480G>T;NG_013364.1:g.7352C>A;NM_000660.4:c.355+1115C>A 208539753 111259121 BCM_CMT_1011-3137905 2010.03.19 2010.03.19 2010.07.04 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41857503C>A;NG_013364.1:g.7329G>T;NM_000660.4:c.355+1092G>T 465599017 182511444 20101123_snps_11766247_chr19_41857503 1.40e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41857506G>C;NG_013364.1:g.7326C>G;NM_000660.4:c.355+1089C>G 228145074 115690783 pilot_1_YRI_9954757_chr19_46549346 7.80e-03 2010.04.22 2010.04.22 2010.07.14 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41857570C>T;NG_013364.1:g.7262G>A;NM_000660.4:c.355+1025G>A 228145075 80224671 pilot_1_YRI_9954758_chr19_46549410 9.60e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 PJP 7040 NC_000019.9:g.41857694_41857695insGGGGGGCTCGCTGCTCG;NG_013364.1:g.7137_7138insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+900_355+901insCGAGCAGCGAGCCCCCC 294963438 143535652 DIP_401142_chr19_46549534 2011.01.22 2011.01.22 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41857709_41857710insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7122_7123insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+885_355+886insGAGCAGCGAGCCCCCCC 327905881 150460951 JPTCHB_chr19_46549549_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41857709_41857710insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7122_7123insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+885_355+886insGAGCAGCGAGCCCCCCC 328033689 150460951 CEU_chr19_46549549_indel 2011.03.13 2011.04.03 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41857709_41857710insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7122_7123insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+885_355+886insGAGCAGCGAGCCCCCCC 328277210 150460951 YRI_chr19_46549549_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 HGSV 7040 NC_000019.9:g.41857710_41857711insGGGGGGCTCGCTGCTCG;NC_000019.9:g.41857710_41857711insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7121_7122insCGAGCAGCGAGCCCCCC;NG_013364.1:g.7121_7122insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+884_355+885insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+884_355+885insGAGCAGCGAGCCCCCCC 83756659 61023216 Cor18517_DIV_20070510.chr19_46549550-46549551_1 2007.12.05 2007.12.05 2007.12.16 2012.05.16 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41857710_41857711insGGGGGGCTCGCTGCTCG;NC_000019.9:g.41857710_41857711insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7121_7122insCGAGCAGCGAGCCCCCC;NG_013364.1:g.7121_7122insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+884_355+885insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+884_355+885insGAGCAGCGAGCCCCCCC 95729063 61023216 1104685412631 2008.03.23 2008.12.03 2007.12.16 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41857710_41857711insGGGGGGCTCGCTGCTCG;NC_000019.9:g.41857710_41857711insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7121_7122insCGAGCAGCGAGCCCCCC;NG_013364.1:g.7121_7122insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+884_355+885insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+884_355+885insGAGCAGCGAGCCCCCCC 100405906 61023216 INDEL_GP36_2008a_1188539_0 2008.05.16 2008.05.16 2007.12.16 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41857710_41857711insGGGGGGCTCGCTGCTCG;NC_000019.9:g.41857710_41857711insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7121_7122insCGAGCAGCGAGCCCCCC;NG_013364.1:g.7121_7122insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+884_355+885insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+884_355+885insGAGCAGCGAGCCCCCCC 100405909 61023216 INDEL_GP36_2008a_1188539_1 2008.05.16 2008.05.16 2007.12.16 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41857710_41857711insGGGGGGCTCGCTGCTCG;NC_000019.9:g.41857710_41857711insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7121_7122insCGAGCAGCGAGCCCCCC;NG_013364.1:g.7121_7122insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+884_355+885insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+884_355+885insGAGCAGCGAGCCCCCCC 100405911 61023216 INDEL_GP36_2008a_1188539_2 2008.05.16 2008.05.16 2007.12.16 2012.05.16 137 PJP 7040 NC_000019.9:g.41857710_41857711insGGGGGGCTCGCTGCTCG;NC_000019.9:g.41857710_41857711insGGGGGGGCTCGCTGCTC;NG_013364.1:g.7121_7122insCGAGCAGCGAGCCCCCC;NG_013364.1:g.7121_7122insGAGCAGCGAGCCCCCCC;NM_000660.4:c.355+884_355+885insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+884_355+885insGAGCAGCGAGCCCCCCC 294963439 61023216 DIP_401143_chr19_46549550 2011.01.22 2011.01.22 2007.12.16 2012.05.16 137 DEVINE_LAB 7040 NC_000019.9:g.41857711_41857712insGGGGGGCTCGCTGCTCG;NG_013364.1:g.7120_7121insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+883_355+884insCGAGCAGCGAGCCCCCC 100428929 67392886 INDEL_GP36_2008a_1553027_0 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41857711_41857712insGGGGGGCTCGCTGCTCG;NG_013364.1:g.7120_7121insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+883_355+884insCGAGCAGCGAGCCCCCC 100428931 67392886 INDEL_GP36_2008a_1553027_1 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41857711_41857712insGGGGGGCTCGCTGCTCG;NG_013364.1:g.7120_7121insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+883_355+884insCGAGCAGCGAGCCCCCC 100428935 67392886 INDEL_GP36_2008a_1553027_2 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41857711_41857712insGGGGGGCTCGCTGCTCG;NG_013364.1:g.7120_7121insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+883_355+884insCGAGCAGCGAGCCCCCC 100428937 67392886 INDEL_GP36_2008a_1553027_3 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41857711_41857712insGGGGGGCTCGCTGCTCG;NG_013364.1:g.7120_7121insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+883_355+884insCGAGCAGCGAGCCCCCC 100428940 67392886 INDEL_GP36_2008a_1553027_4 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41857711_41857712insGGGGGGCTCGCTGCTCG;NG_013364.1:g.7120_7121insCGAGCAGCGAGCCCCCC;NM_000660.4:c.355+883_355+884insCGAGCAGCGAGCCCCCC 100428944 67392886 INDEL_GP36_2008a_1553027_5 2008.05.16 2008.05.16 2009.02.05 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41857734T>A;NG_013364.1:g.7098A>T;NM_000660.4:c.355+861A>T 228145077 76161655 pilot_1_YRI_9954760_chr19_46549574 9.60e-03 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41857792C>A;NG_013364.1:g.7040G>T;NM_000660.4:c.355+803G>T 228145078 79811788 pilot_1_YRI_9954761_chr19_46549632 7.80e-03 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41857792C>A;NG_013364.1:g.7040G>T;NM_000660.4:c.355+803G>T 482323127 79811788 HumanOmni2.5-4v1_D_kgp21370358-0_B_R_1844093017 7.80e-03 2012.02.01 2012.02.01 2009.12.01 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41857792C>A;NG_013364.1:g.7040G>T;NM_000660.4:c.355+803G>T 483829777 79811788 HumanOmni2.5-4v1_B_SNP19-46549632-0_B_R_1640317879 7.80e-03 2012.02.03 2012.02.03 2009.12.01 2012.11.28 137 BCM_SSAHASNP 7040 NC_000019.9:g.41857844G>T;NG_013364.1:g.6988C>A;NM_000660.4:c.355+751C>A 14716028 10418010 chr19.NT_011109.15_14126062 8.20e-03 2003.11.10 2003.11.22 2003.12.05 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41857844G>T;NG_013364.1:g.6988C>A;NM_000660.4:c.355+751C>A 228145079 10418010 pilot_1_YRI_9954762_chr19_46549684 8.20e-03 2010.04.22 2010.04.22 2003.12.05 2011.09.09 137 ABI 7040 NC_000019.9:g.41857897_41857898insA;NG_013364.1:g.6934_6935insT;NM_000660.4:c.355+697_355+698insT 41027239 36050346 hCV33846238 2005.07.17 2005.07.17 2006.03.15 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41858021A>T;NG_013364.1:g.6811T>A;NM_000660.4:c.355+574T>A 465599018 189167898 20101123_snps_11766248_chr19_41858021 6.00e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41858022delC;NG_013364.1:g.6810delG;NM_000660.4:c.355+573delG 328277211 138868734 YRI_chr19_46549861_indel 2011.03.13 2011.04.04 2011.05.09 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41858147C>G;NG_013364.1:g.6685G>C;NM_000660.4:c.355+448G>C 465599019 191945731 20101123_snps_11766249_chr19_41858147 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41858219G>C;NG_013364.1:g.6613C>G;NM_000660.4:c.355+376C>G 465599020 183814787 20101123_snps_11766250_chr19_41858219 1.80e-03 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 DEVINE_LAB 7040 NC_000019.9:g.41858249delC;NG_013364.1:g.6583delG;NM_000660.4:c.355+346delG 15184421 11307639 INDEL_GP34_WGS_292498 2003.11.13 2003.11.22 2004.02.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41858249delC;NG_013364.1:g.6583delG;NM_000660.4:c.355+346delG 95729064 11307639 1104685412632 2008.03.23 2008.12.03 2004.02.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41858249delC;NG_013364.1:g.6583delG;NM_000660.4:c.355+346delG 294963440 11307639 DIP_401144_chr19_46550089 2011.01.22 2011.01.22 2004.02.28 2012.11.28 137 BCM_SSAHASNP 7040 NC_000019.9:g.41858273T>G;NG_013364.1:g.6559A>C;NM_000660.4:c.355+322A>C 14719235 10420084 chr19.NT_011109.15_14126491 2003.11.10 2003.11.22 2003.12.05 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41858273T>G;NG_013364.1:g.6559A>C;NM_000660.4:c.355+322A>C 15356539 10420084 IIPGA-TGFB1_4019 2003.11.14 2003.11.22 2003.12.05 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41858304T>C;NG_013364.1:g.6528A>G;NM_000660.4:c.355+291A>G 21530178 12978333 WGSA-200403-chr19.chr19.NT_011109.15_14126522 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 7040 NC_000019.9:g.41858305G>T;NG_013364.1:g.6527C>A;NM_000660.4:c.355+290C>A 21525385 12976890 WGSA-200403-chr19.chr19.NT_011109.15_14126523 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41858405delC;NG_013364.1:g.6427delG;NM_000660.4:c.355+190delG 499582430 201600672 20110316_indels_chr19_41858404_41858404 8.70e-03 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858418G>T;NG_013364.1:g.6414C>A;NM_000660.4:c.355+177C>A 228145081 74865332 pilot_1_YRI_9954764_chr19_46550258 1.05e-02 2010.04.22 2010.04.22 2009.12.01 2011.07.08 137 BUSHMAN 7040 NC_000019.9:g.41858481G>A;NG_013364.1:g.6351C>T;NM_000660.4:c.355+114C>T 203757623 113314475 BUSHMAN-chr19-46550320 2010.03.09 2010.03.09 2010.07.04 2011.09.09 137 RSG_JCVI 7040 NC_000019.9:g.41858549C>T;NG_013364.1:g.6283G>A;NM_000660.4:c.355+46G>A 262867485 144433571 TGFB1-022642_022643-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858550C>T;NG_013364.1:g.6282G>A;NM_000660.4:c.355+45G>A 262867486 148406711 TGFB1-022643_022644-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858551C>A;NC_000019.9:g.41858551C>T;NG_013364.1:g.6281G>A;NG_013364.1:g.6281G>T;NM_000660.4:c.355+44G>A;NM_000660.4:c.355+44G>T 262867487 141667053 TGFB1-022644_022645-A_C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858552C>A;NC_000019.9:g.41858552C>T;NG_013364.1:g.6280G>A;NG_013364.1:g.6280G>T;NM_000660.4:c.355+43G>A;NM_000660.4:c.355+43G>T 262867488 145972576 TGFB1-022645_022646-A_C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858561C>T;NG_013364.1:g.6271G>A;NM_000660.4:c.355+34G>A 262867489 139888189 TGFB1-022654_022655-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 BL 7040 NC_000019.9:g.41858562C>A;NC_000019.9:g.41858562C>T;NG_013364.1:g.6270G>A;NG_013364.1:g.6270G>T;NM_000660.4:c.355+33G>A;NM_000660.4:c.355+33G>T 255683538 139178397 SNP52639_19_46550402 2010.08.20 2010.08.20 2011.05.09 2012.05.16 137 RSG_JCVI 7040 NC_000019.9:g.41858562C>A;NC_000019.9:g.41858562C>T;NG_013364.1:g.6270G>A;NG_013364.1:g.6270G>T;NM_000660.4:c.355+33G>A;NM_000660.4:c.355+33G>T 262867490 139178397 TGFB1-022655_022656-C_T 2010.09.24 2010.09.24 2011.05.09 2012.05.16 137 RSG_JCVI 7040 NC_000019.9:g.41858563C>A;NC_000019.9:g.41858563C>T;NG_013364.1:g.6269G>A;NG_013364.1:g.6269G>T;NM_000660.4:c.355+32G>A;NM_000660.4:c.355+32G>T 262867491 146857212 TGFB1-022656_022657-A_C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858564C>T;NG_013364.1:g.6268G>A;NM_000660.4:c.355+31G>A 262867492 139751390 TGFB1-022657_022658-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858565delC;NC_000019.9:g.41858565delCinsGGCACTCCGGCGCCCCCTGGGGGCCCCCC;NC_000019.9:g.41858565delCinsGGCACTCCGGCGCCCCCTGGGGGCCCCCCC;NG_013364.1:g.6267delG;NG_013364.1:g.6267delGinsGGGGGGCCCCCAGGGGGCGCCGGAGTGCC;NG_013364.1:g.6267delGinsGGGGGGGCCCCCAGGGGGCGCCGGAGTGCC;NM_000660.4:c.355+30delG;NM_000660.4:c.355+30delGinsGGGGGGCCCCCAGGGGGCGCCGGAGTGCC;NM_000660.4:c.355+30delGinsGGGGGGGCCCCCAGGGGGCGCCGGAGTGCC 262867484 149331374 TGFB1-022630_022659-0_29_30 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858568C>T;NG_013364.1:g.6264G>A;NM_000660.4:c.355+27G>A 262867493 150066327 TGFB1-022661_022662-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858571G>A;NG_013364.1:g.6261C>T;NM_000660.4:c.355+24C>T 262867494 145169606 TGFB1-022664_022665-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858576C>T;NG_013364.1:g.6256G>A;NM_000660.4:c.355+19G>A 262867495 149138756 TGFB1-022669_022670-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858577C>A;NG_013364.1:g.6255G>T;NM_000660.4:c.355+18G>T 262867496 143267252 TGFB1-022670_022671-A_C 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858579G>A;NG_013364.1:g.6253C>T;NM_000660.4:c.355+16C>T 262867497 147900290 TGFB1-022672_022673-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858580C>T;NG_013364.1:g.6252G>A;NM_000660.4:c.355+15G>A 262867498 141692355 TGFB1-022673_022674-C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858581C>A;NC_000019.9:g.41858581C>T;NG_013364.1:g.6251G>A;NG_013364.1:g.6251G>T;NM_000660.4:c.355+14G>A;NM_000660.4:c.355+14G>T 262867499 145922466 TGFB1-022674_022675-A_C_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858582C>A;NC_000019.9:g.41858582C>T;NG_013364.1:g.6250G>A;NG_013364.1:g.6250G>T;NM_000660.4:c.355+13G>A;NM_000660.4:c.355+13G>T 262867500 138863196 TGFB1-022675_022676-A_C_T 2010.09.24 2010.09.24 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858582C>A;NC_000019.9:g.41858582C>T;NG_013364.1:g.6250G>A;NG_013364.1:g.6250G>T;NM_000660.4:c.355+13G>A;NM_000660.4:c.355+13G>T 491256404 138863196 chr19_46550422 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 15356538 11466318 IIPGA-TGFB1_3702 6.40e-03 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 159978161 11466318 HumanOmni1-Quad_v1-0_B_rs11466318-128_T_F_1562990651 6.40e-03 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 228145082 11466318 pilot_1_YRI_9954765_chr19_46550430 6.40e-03 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 262867501 11466318 TGFB1-022683_022684-C_T 6.40e-03 2010.09.24 2010.09.24 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 479978452 11466318 HumanOmni1-Quad_v1-0_C_rs11466318-131_T_F_1863262570 6.40e-03 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 482348520 11466318 HumanOmni2.5-4v1_D_kgp21511422-0_T_R_1844375120 6.40e-03 2012.02.01 2012.02.01 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 483829779 11466318 HumanOmni2.5-4v1_B_SNP19-46550430-0_T_R_1640335048 6.40e-03 2012.02.03 2012.02.03 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 491159832 11466318 20110521_exome_667630_chr19_41858590 6.40e-03 2012.02.22 2012.02.22 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858590C>T;NG_013364.1:g.6242G>A;NM_000660.4:c.355+5G>A 491256405 11466318 chr19_46550430 6.40e-03 2012.03.02 2012.03.02 2004.02.28 2012.11.28 137 CGM_KYOTO 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 76869534 56281462 11999 1.40e-03 2007.09.12 2007.09.12 2007.12.07 2012.11.28 137 CNG 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 95212529 56281462 29946273 1.40e-03 2008.03.13 2008.03.13 2007.12.07 2012.11.28 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 102661422 56281462 TGFB1_T116T 1.40e-03 2008.05.22 2008.05.22 2007.12.07 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 262867502 56281462 TGFB1-022695_022696-A_G 1.40e-03 2010.09.24 2010.09.24 2007.12.07 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 342499261 56281462 ESP2500-chr19-41858602 1.40e-03 2011.03.27 2011.03.27 2007.12.07 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 465599021 56281462 20101123_snps_11766251_chr19_41858602 1.40e-03 2011.07.20 2011.07.20 2007.12.07 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 491159833 56281462 20110521_exome_667631_chr19_41858602 1.40e-03 2012.02.22 2012.02.22 2007.12.07 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 491256406 56281462 chr19_46550442 1.40e-03 2012.03.02 2012.03.02 2007.12.07 2012.11.28 137 CLINSEQ_SNP 7040 NC_000019.9:g.41858602G>A;NG_013364.1:g.6230C>T;NM_000660.4:c.348C>T;NP_000651.3:p.Thr116= 491767924 56281462 SNV-chr19-46550442 1.40e-03 2012.03.07 2012.03.13 2007.12.07 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41858650C>A;NC_000019.9:g.41858650C>T;NG_013364.1:g.6182G>A;NG_013364.1:g.6182G>T;NM_000660.4:c.300G>A;NM_000660.4:c.300G>T;NP_000651.3:p.Glu100=;NP_000651.3:p.Glu100Asp 262867503 137864931 TGFB1-022743_022744-C_T 2010.09.24 2010.09.24 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858650C>A;NC_000019.9:g.41858650C>T;NG_013364.1:g.6182G>A;NG_013364.1:g.6182G>T;NM_000660.4:c.300G>A;NM_000660.4:c.300G>T;NP_000651.3:p.Glu100=;NP_000651.3:p.Glu100Asp 491256407 137864931 chr19_46550490 2012.03.02 2012.03.02 2011.05.09 2012.11.28 137 EXOME_CHIP 7040 NC_000019.9:g.41858650C>A;NC_000019.9:g.41858650C>T;NG_013364.1:g.6182G>A;NG_013364.1:g.6182G>T;NM_000660.4:c.300G>A;NM_000660.4:c.300G>T;NP_000651.3:p.Glu100=;NP_000651.3:p.Glu100Asp 491547792 137864931 nonsyn_264018_chr_19_41858650 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41858659G>A;NG_013364.1:g.6173C>T;NM_000660.4:c.291C>T;NP_000651.3:p.Pro97= 342499262 147873920 ESP2500-chr19-41858659 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858659G>A;NG_013364.1:g.6173C>T;NM_000660.4:c.291C>T;NP_000651.3:p.Pro97= 489167711 147873920 20110521_exome_257216_chr19_41858659 5.00e-04 2012.02.14 2012.02.14 2011.05.09 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858664C>T;NG_013364.1:g.6168G>A;NM_000660.4:c.286G>A;NP_000651.3:p.Glu96Lys 491256408 200512008 chr19_46550504 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41858694C>A;NG_013364.1:g.6138G>T;NM_000660.4:c.256G>T;NP_000651.3:p.Asp86Tyr 491256409 201155269 chr19_46550534 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41858698G>T;NG_013364.1:g.6134C>A;NM_000660.4:c.252C>A;NP_000651.3:p.Thr84= 491256410 199704558 chr19_46550538 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 OMICIA 7040 NC_000019.8:g.46550549A>G NC_000019.9:g.41858709A>G;NG_013364.1:g.6123T>C;NM_000660.4:c.241T>C;NP_000651.3:p.Tyr81His 244317619 111033611 2010_April_001_107_TGFB1_190180_0004 germline pathogenic 2010.06.16 2012.08.29 2010.06.16 2012.12.12 137 OMIM-CURATED-RECORDS 7040 NP_000651.3:p.TYR81HIS NC_000019.9:g.41858709A>G;NG_013364.1:g.6123T>C;NM_000660.4:c.241T>C;NP_000651.3:p.Tyr81His 275515930 111033611 5756 germline pathogenic 2010.11.29 2010.11.29 2010.06.16 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.241T>C NC_000019.9:g.41858709A>G;NG_013364.1:g.6123T>C;NM_000660.4:c.241T>C;NP_000651.3:p.Tyr81His 647514688 111033611 NM_000660.4:c.241T>C germline pathogenic 2012.12.12 2012.12.12 2010.06.16 2012.12.12 137 1000GENOMES 7040 NC_000019.9:g.41858710C>T;NG_013364.1:g.6122G>A;NM_000660.4:c.240G>A;NP_000651.3:p.Leu80= 489167713 199592796 20110521_exome_257217_chr19_41858710 5.00e-04 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41858728G>A;NG_013364.1:g.6104C>T;NM_000660.4:c.222C>T;NP_000651.3:p.Pro74= 262867504 149455461 TGFB1-022821_022822-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41858739C>T;NG_013364.1:g.6093G>A;NM_000660.4:c.211G>A;NP_000651.3:p.Gly71Ser 491256411 200230522 chr19_46550579 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41858772C>G;NG_013364.1:g.6060G>C;NM_000660.4:c.178G>C;NP_000651.3:p.Ala60Pro 491256412 201283333 chr19_46550612 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 EXOME_CHIP 7040 NC_000019.9:g.41858772C>G;NG_013364.1:g.6060G>C;NM_000660.4:c.178G>C;NP_000651.3:p.Ala60Pro 491547793 201283333 nonsyn_264019_chr_19_41858772 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41858775G>T;NG_013364.1:g.6057C>A;NM_000660.4:c.175C>A;NP_000651.3:p.Leu59Ile 262867505 145953838 TGFB1-022868_022869-G_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 BAMEZAI 7040 NC_000019.9:g.41858810T>C;NG_013364.1:g.6022A>G;NM_000660.4:c.140A>G;NP_000651.3:p.Glu47Gly 23128953 13447341 JNU-Bamezai-2 2004.03.24 2004.04.01 2004.04.05 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41858854G>T;NG_013364.1:g.5978C>A;NM_000660.4:c.96C>A;NP_000651.3:p.Thr32= 262867506 139854151 TGFB1-022947_022948-G_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 HURLEY-POSCH-LAB 7040 NC_000019.9:g.41858859A>C;NG_013364.1:g.5973T>G;NM_000660.4:c.91T>G;NP_000651.3:p.Ser31Ala 86217654 61761349 HURLEY-POSCH-LAB TGFB1+931 2007.12.14 2007.12.14 2008.03.23 2011.07.08 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41858863T>C;NC_000019.9:g.41858863T>G;NG_013364.1:g.5969A>C;NG_013364.1:g.5969A>G;NM_000660.4:c.87A>C;NM_000660.4:c.87A>G;NP_000651.3:p.Gly29= 102661418 66551611 TGFB1_G29E 2008.05.22 2008.05.22 2009.02.04 2012.05.16 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41858863T>C;NC_000019.9:g.41858863T>G;NG_013364.1:g.5969A>C;NG_013364.1:g.5969A>G;NM_000660.4:c.87A>C;NM_000660.4:c.87A>G;NP_000651.3:p.Gly29= 102661419 66551611 TGFB1_G29A 2008.05.22 2008.05.22 2009.02.04 2012.05.16 137 GSK-GENETICS 7040 NC_000019.9:g.41858864C>G;NC_000019.9:g.41858864C>T;NG_013364.1:g.5968G>A;NG_013364.1:g.5968G>C;NM_000660.4:c.86G>A;NM_000660.4:c.86G>C;NP_000651.3:p.Gly29Ala;NP_000651.3:p.Gly29Glu 491256413 199758510 chr19_46550704 2012.03.02 2012.03.02 2012.05.04 2012.11.28 137 EXOME_CHIP 7040 NC_000019.9:g.41858864C>G;NC_000019.9:g.41858864C>T;NG_013364.1:g.5968G>A;NG_013364.1:g.5968G>C;NM_000660.4:c.86G>A;NM_000660.4:c.86G>C;NP_000651.3:p.Gly29Ala;NP_000651.3:p.Gly29Glu 491547794 199758510 nonsyn_264020_chr_19_41858864 2012.03.06 2012.03.06 2012.05.04 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858865C>T;NG_013364.1:g.5967G>A;NM_000660.4:c.85G>A;NP_000651.3:p.Gly29Arg 491256414 200868154 chr19_46550705 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 HGBASE 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 2420565 1800471 SNP000003238 4.62e-02 non-pathogenic 2000.11.07 2003.10.10 2000.11.14 2012.12.12 137 SNP500CANCER 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 6903962 1800471 TGFB1-03 4.62e-02 non-pathogenic 2003.03.20 2004.04.07 2000.11.14 2012.12.12 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 15356537 1800471 IIPGA-TGFB1_3416 4.62e-02 non-pathogenic 2003.11.14 2004.04.07 2000.11.14 2012.12.12 137 SEQUENOM 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 24796586 1800471 sqnm141599 4.62e-02 non-pathogenic 2004.06.18 2004.06.18 2000.11.14 2012.12.12 137 APPLERA_GI 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 48420191 1800471 hCV11464118 4.62e-02 non-pathogenic 2005.11.30 2006.11.03 2000.11.14 2012.12.12 137 PERLEGEN 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 69228627 1800471 PGP04778428 4.62e-02 non-pathogenic 2007.01.30 2007.01.30 2000.11.14 2012.12.12 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 69364813 1800471 PS205155_PA137112015_101 4.62e-02 non-pathogenic 2007.03.22 2007.08.14 2000.11.14 2012.12.12 137 CGM_KYOTO 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 76869533 1800471 11998 4.62e-02 non-pathogenic 2007.09.12 2007.09.12 2000.11.14 2012.12.12 137 CNG 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 95210971 1800471 29946272 4.62e-02 non-pathogenic 2008.03.13 2008.03.13 2000.11.14 2012.12.12 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 105107322 1800471 PS205143_PA136363777_101 4.62e-02 non-pathogenic 2008.07.23 2008.07.23 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 160462841 1800471 HumanOmni1-Quad_v1-0_B_rs1800471-128_T_F_1561712077 4.62e-02 non-pathogenic 2009.08.06 2009.10.02 2000.11.14 2012.12.12 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 168214566 1800471 NA07022_36_chr19_46550716 4.62e-02 non-pathogenic 2009.09.30 2009.09.30 2000.11.14 2012.12.12 137 1000GENOMES 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 237681389 1800471 pilot_1_CEU_7286018_chr19_46550716 4.62e-02 non-pathogenic 2010.05.01 2010.05.01 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 244285020 1800471 CVDSNP55v1_A_rs1800471 4.62e-02 non-pathogenic 2010.06.10 2010.06.10 2000.11.14 2012.12.12 137 RSG_JCVI 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 262867507 1800471 TGFB1-022969_022970-C_G 4.62e-02 non-pathogenic 2010.09.24 2010.09.24 2000.11.14 2012.12.12 137 ILLUMINA 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 481067154 1800471 HumanOmni1-Quad_v1-0_C_rs1800471-131_T_F_1863276728 4.62e-02 non-pathogenic 2012.01.31 2012.01.31 2000.11.14 2012.12.12 137 1000GENOMES 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 491159834 1800471 20110521_exome_667632_chr19_41858876 4.62e-02 non-pathogenic 2012.02.22 2012.02.22 2000.11.14 2012.12.12 137 GSK-GENETICS 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 491256415 1800471 chr19_46550716 4.62e-02 non-pathogenic 2012.03.02 2012.03.02 2000.11.14 2012.12.12 137 EXOME_CHIP 7040 NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 491547795 1800471 nonsyn_264021_chr_19_41858876 4.62e-02 non-pathogenic 2012.03.06 2012.03.06 2000.11.14 2012.12.12 137 GENEREVIEWS 7040 NM_000660.4:c.74G>C NC_000019.9:g.41858876C>G;NG_013364.1:g.5956G>C;NM_000660.4:c.74G>C;NP_000651.3:p.Arg25Pro 647514677 1800471 NM_000660.4:c.74G>C 4.62e-02 non-pathogenic 2012.12.12 2012.12.12 2000.11.14 2012.12.12 137 RSG_JCVI 7040 NC_000019.9:g.41858878G>T;NG_013364.1:g.5954C>A;NM_000660.4:c.72C>A;NP_000651.3:p.Gly24= 262867508 146353438 TGFB1-022971_022972-G_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 UA_CMG_DEAFNESS 7040 NC_000019.9:g.41858895G>A;NG_013364.1:g.5937C>T;NM_000660.4:c.55C>T;NP_000651.3:p.Leu19= 102661421 72480425 TGFB1_L19L 2008.05.22 2008.05.22 2009.02.14 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858895G>A;NG_013364.1:g.5937C>T;NM_000660.4:c.55C>T;NP_000651.3:p.Leu19= 491256416 72480425 chr19_46550735 2012.03.02 2012.03.02 2009.02.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858920_41858921insA;NG_013364.1:g.5911_5912insT;NM_000660.4:c.29_30insT;NP_000651.3:p.Pro10delinsProAlafs 499582436 201844761 20110316_indels_chr19_41858920_41858921 3.62e-02 2012.03.20 2012.03.20 2012.05.04 2012.11.28 137 HGBASE 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 2420564 1800470 SNP000003237 4.45e-01 pathogenic 2000.11.07 2003.10.10 2000.11.14 2013.01.31 137 TSC-CSHL 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 2887365 1800470 TSC0929271 4.45e-01 pathogenic 2001.01.03 2003.10.10 2000.11.14 2013.01.31 137 YUSUKE 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 4931303 1800470 IMS-JST096736 4.45e-01 pathogenic 2002.08.01 2003.10.10 2000.11.14 2013.01.31 137 SNP500CANCER 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 6903961 1800470 TGFB1-01 4.45e-01 pathogenic 2003.03.20 2004.04.07 2000.11.14 2013.01.31 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 15356536 1800470 IIPGA-TGFB1_3371 4.45e-01 pathogenic 2003.11.14 2004.04.07 2000.11.14 2013.01.31 137 CGAP-GAI 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 16252304 1800470 1503960 4.45e-01 pathogenic 2003.11.18 2003.11.22 2000.11.14 2013.01.31 137 CSHL-HAPMAP 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 19401773 1800470 CSHL-HuDD-200402.chr19.NT_011109.15_14127139 4.45e-01 pathogenic 2004.02.21 2004.03.04 2000.11.14 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 21551244 1800470 WGSA-200403-chr19.chr19.NT_011109.15_14127139 4.45e-01 pathogenic 2004.03.20 2004.03.20 2000.11.14 2013.01.31 137 IMCJ-GDT 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 22887843 1800470 IMCJ-TGFB1_5-CT 4.45e-01 pathogenic 2004.03.22 2004.03.22 2000.11.14 2013.01.31 137 MGC_GENOME_DIFF 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 28503569 1800470 BC000125x29800594-G14127139A 4.45e-01 pathogenic 2004.08.25 2004.08.25 2000.11.14 2013.01.31 137 MGC_GENOME_DIFF 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 28503737 1800470 BC001180x29800594-G14127139A 4.45e-01 pathogenic 2004.08.25 2004.08.25 2000.11.14 2013.01.31 137 MGC_GENOME_DIFF 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 28506278 1800470 BC022242x29800594-G14127139A 4.45e-01 pathogenic 2004.08.25 2004.08.25 2000.11.14 2013.01.31 137 APPLERA_GI 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 48420192 1800470 hCV22272997 4.45e-01 pathogenic 2005.11.30 2006.11.03 2000.11.14 2013.01.31 137 CSHL-HAPMAP 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 68397072 1800470 sanger:assay:4244926:1 4.45e-01 pathogenic 2007.01.11 2007.01.11 2000.11.14 2013.01.31 137 PERLEGEN 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 69228628 1800470 PGP04538508 4.45e-01 pathogenic 2007.01.30 2007.01.30 2000.11.14 2013.01.31 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 69364812 1800470 PS205155_PA137106787_101 4.45e-01 pathogenic 2007.03.22 2007.08.14 2000.11.14 2013.01.31 137 SHGC 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 71640514 1800470 1983 4.45e-01 pathogenic 2007.04.27 2007.04.27 2000.11.14 2013.01.31 137 CGM_KYOTO 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 76869532 1800470 11997 4.45e-01 pathogenic 2007.09.12 2007.09.12 2000.11.14 2013.01.31 137 HGSV 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 77187229 1800470 Cor12156_SNV_20070510.chr19_46550761 4.45e-01 pathogenic 2007.10.09 2007.10.11 2000.11.14 2013.01.31 137 HGSV 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 81939538 1800470 Cor18956_SNV_20070510.chr19_46550761 4.45e-01 pathogenic 2007.12.01 2007.12.01 2000.11.14 2013.01.31 137 HGSV 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 84475751 1800470 Cor18517_SNV_20070510.chr19_46550761 4.45e-01 pathogenic 2007.12.07 2007.12.07 2000.11.14 2013.01.31 137 BCMHGSC_JDW 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 90976636 1800470 JWB-1170445 4.45e-01 pathogenic 2008.03.01 2008.03.01 2000.11.14 2013.01.31 137 CNG 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 95211621 1800470 19134615 4.45e-01 pathogenic 2008.03.13 2008.03.13 2000.11.14 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 96268013 1800470 1103691147417 4.45e-01 pathogenic 2008.03.26 2008.03.26 2000.11.14 2013.01.31 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 105107318 1800470 PS205143_PA136358527_101 4.45e-01 pathogenic 2008.07.23 2008.07.23 2000.11.14 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 136262338 1800470 ENSSNP1531700 4.45e-01 pathogenic 2009.05.15 2009.10.15 2000.11.14 2013.01.31 137 SEATTLESEQ 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 159739879 1800470 TGFB1-46550761 4.45e-01 pathogenic 2009.07.10 2009.07.10 2000.11.14 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 168214574 1800470 NA07022_36_chr19_46550761 4.45e-01 pathogenic 2009.09.30 2009.09.30 2000.11.14 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 169769675 1800470 NA19240_36_chr19_46550761 4.45e-01 pathogenic 2009.10.01 2009.10.01 2000.11.14 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 203757624 1800470 BUSHMAN-chr19-46550760 4.45e-01 pathogenic 2010.03.09 2010.03.09 2000.11.14 2013.01.31 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 208488681 1800470 BCM_CMT_1011-3120332 4.45e-01 pathogenic 2010.03.19 2010.03.19 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 228145083 1800470 pilot_1_YRI_9954766_chr19_46550761 4.45e-01 pathogenic 2010.04.22 2010.04.22 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 237681390 1800470 pilot_1_CEU_7286019_chr19_46550761 4.45e-01 pathogenic 2010.05.01 2010.05.01 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 243886509 1800470 pilot_1_CHB+JPT_5771586_chr19_46550761 4.45e-01 pathogenic 2010.05.01 2010.05.01 2000.11.14 2013.01.31 137 RSG_JCVI 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 262867509 1800470 TGFB1-023014_023015-A_G 4.45e-01 pathogenic 2010.09.24 2010.09.24 2000.11.14 2013.01.31 137 PJP 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 292179507 1800470 SNP_1685865_chr19_46550761 4.45e-01 pathogenic 2011.01.21 2011.01.21 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 491159835 1800470 20110521_exome_667633_chr19_41858921 4.45e-01 pathogenic 2012.02.22 2012.02.22 2000.11.14 2013.01.31 137 GSK-GENETICS 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 491256417 1800470 chr19_46550761 4.45e-01 pathogenic 2012.03.02 2012.03.02 2000.11.14 2013.01.31 137 EXOME_CHIP 7040 NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 491547796 1800470 nonsyn_264022_chr_19_41858921 4.45e-01 pathogenic 2012.03.06 2012.03.06 2000.11.14 2013.01.31 137 GENEREVIEWS 7040 NM_000660.4:c.29C>T NC_000019.9:g.41858921G>A;NG_013364.1:g.5911C>T;NM_000660.4:c.29C>T;NP_000651.3:p.Pro10Leu 647514675 1800470 NM_000660.4:c.29C>T 4.45e-01 pathogenic 2012.12.12 2012.12.12 2000.11.14 2013.01.31 137 GSK-GENETICS 7040 NC_000019.9:g.41858938G>C;NG_013364.1:g.5894C>G;NM_000660.4:c.12C>G;NP_000651.3:p.Ser4= 491256418 201834171 chr19_46550778 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41858960G>A;NG_013364.1:g.5872C>T;NM_000660.4:c.-11C>T 491256419 199947003 chr19_46550800 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 SNP500CANCER 7040 NC_000019.9:g.41858963C>T;NG_013364.1:g.5869G>A;NM_000660.4:c.-14G>A 12675174 9282871 TGFB1-10 1.10e-02 2003.09.05 2006.10.25 2003.11.17 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41858963C>T;NG_013364.1:g.5869G>A;NM_000660.4:c.-14G>A 15356535 9282871 IIPGA-TGFB1_3329 1.10e-02 2003.11.14 2004.04.07 2003.11.17 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41858963C>T;NG_013364.1:g.5869G>A;NM_000660.4:c.-14G>A 203757625 9282871 BUSHMAN-chr19-46550802 1.10e-02 2010.03.09 2010.03.09 2003.11.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41858963C>T;NG_013364.1:g.5869G>A;NM_000660.4:c.-14G>A 228145084 9282871 pilot_1_YRI_9954767_chr19_46550803 1.10e-02 2010.04.22 2010.04.22 2003.11.17 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41858963C>T;NG_013364.1:g.5869G>A;NM_000660.4:c.-14G>A 262867510 9282871 TGFB1-023056_023057-C_T 1.10e-02 2010.09.24 2010.09.24 2003.11.17 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858963C>T;NG_013364.1:g.5869G>A;NM_000660.4:c.-14G>A 491256420 9282871 chr19_46550803 1.10e-02 2012.03.02 2012.03.02 2003.11.17 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41858977C>G;NG_013364.1:g.5855G>C;NM_000660.4:c.-28G>C 491256421 201619377 chr19_46550817 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41858983C>A;NG_013364.1:g.5849G>T;NM_000660.4:c.-34G>T 262867511 151118561 TGFB1-023076_023077-A_C 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41858985C>T;NG_013364.1:g.5847G>A;NM_000660.4:c.-36G>A 491256422 200135233 chr19_46550825 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41858994C>G;NC_000019.9:g.41858994C>T;NG_013364.1:g.5838G>A;NG_013364.1:g.5838G>C;NM_000660.4:c.-45G>A;NM_000660.4:c.-45G>C 262867512 140027851 TGFB1-023087_023088-C_G_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 RSG_JCVI 7040 NC_000019.9:g.41859015G>A;NG_013364.1:g.5817C>T;NM_000660.4:c.-66C>T 262867513 149770409 TGFB1-023108_023109-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 CGM_KYOTO 7040 NC_000019.9:g.41859022C>T;NG_013364.1:g.5810G>A;NM_000660.4:c.-73G>A 76869531 56155294 11996 2007.09.12 2007.09.12 2007.12.07 2012.11.28 137 CNG 7040 NC_000019.9:g.41859022C>T;NG_013364.1:g.5810G>A;NM_000660.4:c.-73G>A 95210400 56155294 29946271 2008.03.13 2008.03.13 2007.12.07 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859022C>T;NG_013364.1:g.5810G>A;NM_000660.4:c.-73G>A 491256423 56155294 chr19_46550862 2012.03.02 2012.03.02 2007.12.07 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859025G>A;NG_013364.1:g.5807C>T;NM_000660.4:c.-76C>T 491256424 201994282 chr19_46550865 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859040C>G;NG_013364.1:g.5792G>C;NM_000660.4:c.-91G>C 491256425 199968369 chr19_46550880 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 NEPH-RES_QUB 7040 NC_000019.9:g.41859063A>G;NG_013364.1:g.5769T>C;NM_000660.4:c.-114T>C 50394786 36102838 NEPH-RES_QUB_51 2006.01.31 2006.01.31 2006.03.16 2011.07.08 137 GMI 7040 NC_000019.9:g.41859067_41859068insGGG;NG_013364.1:g.5764_5765insCCC;NM_000660.4:c.-119_-118insCCC 289389097 200016578 GMI_AK_INDEL_1066555 2010.12.30 2011.12.30 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859073G>T;NG_013364.1:g.5759C>A;NM_000660.4:c.-124C>A 491256426 201020311 chr19_46550913 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 IMCJ-GDT 7040 NC_000019.9:g.41859091G>A;NG_013364.1:g.5741C>T;NM_000660.4:c.-142C>T 22887842 13306708 IMCJ-TGFB1_3-CT 2.30e-03 2004.03.22 2004.03.22 2004.04.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41859091G>A;NG_013364.1:g.5741C>T;NM_000660.4:c.-142C>T 465599022 13306708 20101123_snps_11766252_chr19_41859091 2.30e-03 2011.07.20 2011.07.20 2004.04.05 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859091G>A;NG_013364.1:g.5741C>T;NM_000660.4:c.-142C>T 491256427 13306708 chr19_46550931 2.30e-03 2012.03.02 2012.03.02 2004.04.05 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859105G>A;NG_013364.1:g.5727C>T;NM_000660.4:c.-156C>T 491256428 200273952 chr19_46550945 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859162G>A;NG_013364.1:g.5670C>T;NM_000660.4:c.-213C>T 491256429 201093139 chr19_46551002 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 HURLEY-POSCH-LAB 7040 NC_000019.9:g.41859178G>C;NG_013364.1:g.5654C>G;NM_000660.4:c.-229C>G 86217655 61761350 HURLEY-POSCH-LAB TGFB1+611 2007.12.14 2007.12.14 2008.03.23 2011.07.08 137 SHGC 7040 NC_000019.9:g.41859185G>C;NG_013364.1:g.5647C>G;NM_000660.4:c.-236C>G 71640513 45616242 1982 2007.04.27 2007.04.27 2007.05.18 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41859185G>C;NG_013364.1:g.5647C>G;NM_000660.4:c.-236C>G 262867514 45616242 TGFB1-023278_023279-C_G 2010.09.24 2010.09.24 2007.05.18 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859185G>C;NG_013364.1:g.5647C>G;NM_000660.4:c.-236C>G 491256430 45616242 chr19_46551025 2012.03.02 2012.03.02 2007.05.18 2012.11.28 137 RSG_JCVI 7040 NC_000019.9:g.41859197G>A;NG_013364.1:g.5635C>T;NM_000660.4:c.-248C>T 262867515 141633455 TGFB1-023290_023291-A_G 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 IMCJ-GDT 7040 NC_000019.9:g.41859198G>T;NG_013364.1:g.5634C>A;NM_000660.4:c.-249C>A 22887841 13306707 IMCJ-TGFB1_2-AC 2004.03.22 2004.03.22 2004.04.05 2011.09.09 137 ILLUMINA 7040 NC_000019.9:g.41859198G>T;NG_013364.1:g.5634C>A;NM_000660.4:c.-249C>A 74967639 13306707 ILMN_Human_1M_rs13306707 2007.08.29 2007.08.29 2004.04.05 2011.09.09 137 KRIBB_YJKIM 7040 NC_000019.9:g.41859198G>T;NG_013364.1:g.5634C>A;NM_000660.4:c.-249C>A 119833596 13306707 KHS1867969 2009.02.05 2009.02.05 2004.04.05 2011.09.09 137 ILLUMINA 7040 NC_000019.9:g.41859198G>T;NG_013364.1:g.5634C>A;NM_000660.4:c.-249C>A 172386441 13306707 Human1M-Duov3_B_rs13306707-128_B_R_1513926739 2009.10.02 2009.10.02 2004.04.05 2011.09.09 137 GSK-GENETICS 7040 NC_000019.9:g.41859207C>T;NG_013364.1:g.5625G>A;NM_000660.4:c.-258G>A 491256431 200500159 chr19_46551047 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 RSG_JCVI 7040 NC_000019.9:g.41859209G>T;NG_013364.1:g.5623C>A;NM_000660.4:c.-260C>A 262867516 147066206 TGFB1-023302_023303-G_T 2010.09.24 2010.09.24 2011.05.09 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41859224C>G;NG_013364.1:g.5608G>C;NM_000660.4:c.-275G>C 491256432 201704451 chr19_46551064 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 IMCJ-GDT 7040 NC_000019.9:g.41859225G>T;NG_013364.1:g.5607C>A;NM_000660.4:c.-276C>A 22887840 13306706 IMCJ-TGFB1_1-AC 1.80e-03 2004.03.22 2004.03.22 2004.04.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41859225G>T;NG_013364.1:g.5607C>A;NM_000660.4:c.-276C>A 243886510 13306706 pilot_1_CHB+JPT_5771587_chr19_46551065 1.80e-03 2010.05.01 2010.05.01 2004.04.05 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859225G>T;NG_013364.1:g.5607C>A;NM_000660.4:c.-276C>A 491256433 13306706 chr19_46551065 1.80e-03 2012.03.02 2012.03.02 2004.04.05 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859261G>T;NG_013364.1:g.5571C>A;NM_000660.4:c.-312C>A 491256434 200538848 chr19_46551101 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859273G>C;NG_013364.1:g.5559C>G;NM_000660.4:c.-324C>G 491256435 201530894 chr19_46551113 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 SI_EXO 7040 NC_000019.9:g.41859277G>A;NG_013364.1:g.5555C>T;NM_000660.4:c.-328C>T 69379999 45457101 NT_011109.15_14127495 2007.04.12 2007.04.12 2007.05.16 2012.11.28 137 CGM_KYOTO 7040 NC_000019.9:g.41859277G>A;NG_013364.1:g.5555C>T;NM_000660.4:c.-328C>T 76869530 45457101 11995 2007.09.12 2007.09.12 2007.05.16 2012.11.28 137 CNG 7040 NC_000019.9:g.41859277G>A;NG_013364.1:g.5555C>T;NM_000660.4:c.-328C>T 95213679 45457101 29946270 2008.03.13 2008.03.13 2007.05.16 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859277G>A;NG_013364.1:g.5555C>T;NM_000660.4:c.-328C>T 491256436 45457101 chr19_46551117 2012.03.02 2012.03.02 2007.05.16 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859292G>T;NG_013364.1:g.5540C>A;NM_000660.4:c.-343C>A 491256437 200716568 chr19_46551132 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859309G>A;NG_013364.1:g.5523C>T;NM_000660.4:c.-360C>T 491256438 201696222 chr19_46551149 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41859336G>A;NG_013364.1:g.5496C>T;NM_000660.4:c.-387C>T 15356534 11466316 IIPGA-TGFB1_2956 1.10e-02 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41859336G>A;NG_013364.1:g.5496C>T;NM_000660.4:c.-387C>T 159978160 11466316 HumanOmni1-Quad_v1-0_B_rs11466316-128_T_R_1562480575 1.10e-02 2009.08.04 2009.10.01 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41859336G>A;NG_013364.1:g.5496C>T;NM_000660.4:c.-387C>T 228145085 11466316 pilot_1_YRI_9954768_chr19_46551176 1.10e-02 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41859336G>A;NG_013364.1:g.5496C>T;NM_000660.4:c.-387C>T 479978448 11466316 HumanOmni1-Quad_v1-0_C_rs11466316-131_T_R_1858954507 1.10e-02 2012.01.31 2012.01.31 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859336G>A;NG_013364.1:g.5496C>T;NM_000660.4:c.-387C>T 491256439 11466316 chr19_46551176 1.10e-02 2012.03.02 2012.03.02 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859368G>A;NG_013364.1:g.5464C>T;NM_000660.4:c.-419C>T 491256440 200915629 chr19_46551208 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859393T>A;NG_013364.1:g.5439A>T;NM_000660.4:c.-444A>T 491256441 202033907 chr19_46551233 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 CGAP-GAI 7040 NC_000019.9:g.41859402C>T;NG_013364.1:g.5430G>A;NM_000660.4:c.-453G>A 16252306 11551226 1503964 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41859403A>G;NG_013364.1:g.5429T>C;NM_000660.4:c.-454T>C 491256442 199974871 chr19_46551243 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859404G>A;NG_013364.1:g.5428C>T;NM_000660.4:c.-455C>T 491256443 200773845 chr19_46551244 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 HURLEY-POSCH-LAB 7040 NC_000019.9:g.41859419T>G;NG_013364.1:g.5413A>C;NM_000660.4:c.-470A>C 49785046 35025994 TGFB1-469 2005.11.04 2005.11.04 2006.03.14 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41859491G>A;NG_013364.1:g.5341C>T;NM_000660.4:c.-542C>T 491256444 201677979 chr19_46551331 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859497C>T;NG_013364.1:g.5335G>A;NM_000660.4:c.-548G>A 491256445 200117700 chr19_46551337 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859505C>G;NG_013364.1:g.5327G>C;NM_000660.4:c.-556G>C 491256446 200883456 chr19_46551345 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859512C>G;NG_013364.1:g.5320G>C;NM_000660.4:c.-563G>C 491256447 202039131 chr19_46551352 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859529T>A;NG_013364.1:g.5303A>T;NM_000660.4:c.-580A>T 491256448 200340671 chr19_46551369 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859576C>A;NG_013364.1:g.5256G>T;NM_000660.4:c.-627G>T 491256449 201584846 chr19_46551416 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 ENSEMBL 7040 NC_000019.9:g.41859590C>T;NG_013364.1:g.5242G>A;NM_000660.4:c.-641G>A 137680618 78191244 ENSSNP11447793 2009.05.16 2009.05.16 2009.12.01 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41859591T>C;NG_013364.1:g.5241A>G;NM_000660.4:c.-642A>G 137680621 79132525 ENSSNP11447794 2009.05.16 2009.05.16 2009.12.01 2011.07.08 137 CGAP-GAI 7040 NC_000019.9:g.41859597C>G;NG_013364.1:g.5235G>C;NM_000660.4:c.-648G>C 16252302 11551223 1503958 2003.11.18 2003.11.22 2004.02.28 2011.07.08 137 GSK-GENETICS 7040 NC_000019.9:g.41859631A>G;NG_013364.1:g.5201T>C;NM_000660.4:c.-682T>C 491256450 202216587 chr19_46551471 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 GSK-GENETICS 7040 NC_000019.9:g.41859694G>A;NG_013364.1:g.5138C>T;NM_000660.4:c.-745C>T 491256451 200356936 chr19_46551534 2012.03.02 2012.03.02 2012.05.04 2012.05.04 137 HGBASE 7040 NC_000019.9:g.41859710_41859711insG;NG_013364.1:g.5121_5122insC;NM_000660.4:c.-762_-761insC 2419763 1799753 IND000003367 2000.11.07 2003.10.10 2000.11.14 2011.09.09 137 CGM_KYOTO 7040 NC_000019.9:g.41859710_41859711insG;NG_013364.1:g.5121_5122insC;NM_000660.4:c.-762_-761insC 76869529 1799753 11994 2007.09.12 2007.09.12 2000.11.14 2011.09.09 137 CNG 7040 NC_000019.9:g.41859710_41859711insG;NG_013364.1:g.5121_5122insC;NM_000660.4:c.-762_-761insC 95213822 1799753 29946269 2008.03.13 2008.03.13 2000.11.14 2011.09.09 137 HGBASE 7040 NC_000019.9:g.41859711_41859712insG;NG_013364.1:g.5120_5121insC;NM_000660.4:c.-763_-762insC 2421185 1800999 IND000008178 2000.11.07 2003.10.10 2000.11.14 2011.07.08 137 HURLEY-POSCH-LAB 7040 NC_000019.9:g.41859727C>T;NG_013364.1:g.5105G>A;NM_000660.4:c.-778G>A 49785045 36185305 TGFB1-778 2005.11.04 2005.11.04 2006.03.16 2011.07.08 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41859776C>G;NG_013364.1:g.5056G>C;NM_000660.4:c.-827G>C 15356533 11466315 IIPGA-TGFB1_2516 2.34e-02 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41859776C>G;NG_013364.1:g.5056G>C;NM_000660.4:c.-827G>C 465599023 11466315 20101123_snps_11766253_chr19_41859776 2.34e-02 2011.07.20 2011.07.20 2004.02.28 2012.11.28 137 GSK-GENETICS 7040 NC_000019.9:g.41859776C>G;NG_013364.1:g.5056G>C;NM_000660.4:c.-827G>C 491256452 11466315 chr19_46551616 2.34e-02 2012.03.02 2012.03.02 2004.02.28 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41859781A>T;NG_013364.1:g.5051T>A;NM_000660.4:c.-832T>A 21556405 12985978 WGSA-200403-chr19.chr19.NT_011109.15_14127999 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 7040 NC_000019.9:g.41859782G>A;NG_013364.1:g.5050C>T;NM_000660.4:c.-833C>T 21527708 12977601 WGSA-200403-chr19.chr19.NT_011109.15_14128000 2004.03.20 2004.03.20 2004.04.05 2011.07.08 137 SSAHASNP 7040 NC_000019.9:g.41859806G>T;NG_013364.1:g.5026C>A;NM_000660.4:c.-857C>A 21527778 12977628 WGSA-200403-chr19.chr19.NT_011109.15_14128024 2004.03.20 2004.03.20 2004.04.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41859806G>T;NG_013364.1:g.5026C>A;NM_000660.4:c.-857C>A 160310482 12977628 HumanOmni1-Quad_v1-0_B_rs12977628-128_B_F_1562411300 2009.08.06 2009.10.02 2004.04.05 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41859806G>T;NG_013364.1:g.5026C>A;NM_000660.4:c.-857C>A 480458613 12977628 HumanOmni1-Quad_v1-0_C_rs12977628-131_B_F_1858953089 2012.01.31 2012.01.31 2004.04.05 2012.11.28 137 KYUGEN 7040 NC_000019.9:g.41860045T>G;NG_013364.1:g.4787A>C;NM_000660.4:c.-1096A>C 28476929 17516265 QH03961 2004.07.29 2004.07.29 2004.09.20 2011.07.08 137 HURLEY-POSCH-LAB 7040 NC_000019.9:g.41860103G>A;NG_013364.1:g.4729C>T;NM_000660.4:c.-1154C>T 49785044 35318502 TGFB1-1154 3.20e-03 2005.11.04 2005.11.04 2006.03.15 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41860103G>A;NG_013364.1:g.4729C>T;NM_000660.4:c.-1154C>T 228145086 35318502 pilot_1_YRI_9954769_chr19_46551943 3.20e-03 2010.04.22 2010.04.22 2006.03.15 2011.09.09 137 HURLEY-POSCH-LAB 7040 NC_000019.9:g.41860117_41860118delAA;NG_013364.1:g.4714_4715delTT;NM_000660.4:c.-1169_-1168delTT 49785047 35775330 TGFB1-1169 2005.11.04 2005.11.04 2006.03.15 2011.07.08 137 CGM_KYOTO 7040 NC_000019.9:g.41860117delA;NC_000019.9:g.41860117delAinsAA;NG_013364.1:g.4715delT;NG_013364.1:g.4715delTinsTT;NM_000660.4:c.-1168delT;NM_000660.4:c.-1168delTinsTT 76869528 56368056 11993 2007.09.12 2007.09.12 2007.12.07 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41860138G>A;NG_013364.1:g.4694C>T;NM_000660.4:c.-1189C>T 465599024 186958149 20101123_snps_11766254_chr19_41860138 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41860236C>T;NG_013364.1:g.4596G>A;NM_000660.4:c.-1287G>A 15356532 11466314 IIPGA-TGFB1_2056 3.20e-03 2003.11.14 2003.11.22 2004.02.28 2012.11.28 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41860236C>T;NG_013364.1:g.4596G>A;NM_000660.4:c.-1287G>A 51854668 11466314 1139_-448 3.20e-03 2006.02.16 2006.02.16 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860236C>T;NG_013364.1:g.4596G>A;NM_000660.4:c.-1287G>A 228145087 11466314 pilot_1_YRI_9954770_chr19_46552076 3.20e-03 2010.04.22 2010.04.22 2004.02.28 2012.11.28 137 HGBASE 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 2420563 1800469 SNP000003236 3.59e-01 non-pathogenic 2000.11.07 2003.10.10 2000.11.14 2013.01.31 137 TSC-CSHL 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 2739879 1800469 TSC0859297 3.59e-01 non-pathogenic 2001.01.02 2004.04.07 2000.11.14 2013.01.31 137 SNP500CANCER 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 5586936 1800469 MGC4093-03 3.59e-01 non-pathogenic 2003.05.29 2005.04.12 2000.11.14 2013.01.31 137 CUORCGL 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 12568613 1800469 SNP27 3.59e-01 non-pathogenic 2003.07.08 2006.10.25 2000.11.14 2013.01.31 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 15356531 1800469 IIPGA-TGFB1_1996 3.59e-01 non-pathogenic 2003.11.14 2004.04.07 2000.11.14 2013.01.31 137 CSHL-HAPMAP 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 17621399 1800469 CSHL-HuCC-200402.chr19.NT_011109.15_14128514 3.59e-01 non-pathogenic 2004.02.19 2004.05.16 2000.11.14 2013.01.31 137 SSAHASNP 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 21530012 1800469 WGSA-200403-chr19.chr19.NT_011109.15_14128514 3.59e-01 non-pathogenic 2004.03.20 2004.03.20 2000.11.14 2013.01.31 137 PERLEGEN 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 24105096 1800469 afd3977863 3.59e-01 non-pathogenic 2004.08.21 2004.09.13 2000.11.14 2013.01.31 137 KYUGEN 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 28476928 1800469 QH03960 3.59e-01 non-pathogenic 2004.07.29 2004.08.05 2000.11.14 2013.01.31 137 ABI 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 44192442 1800469 hCV8708473 3.59e-01 non-pathogenic 2005.07.18 2006.11.03 2000.11.14 2013.01.31 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 51854669 1800469 1140_-508 3.59e-01 non-pathogenic 2006.02.16 2006.02.16 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 65790081 1800469 Human1-rs1800469 3.59e-01 non-pathogenic 2006.10.10 2006.10.10 2000.11.14 2013.01.31 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 69364811 1800469 PS205155_PA137100482_101 3.59e-01 non-pathogenic 2007.03.22 2007.08.14 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 74901876 1800469 ILMN_Human_1M_rs1800469 3.59e-01 non-pathogenic 2007.08.29 2007.08.29 2000.11.14 2013.01.31 137 CGM_KYOTO 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 76869527 1800469 11992 3.59e-01 non-pathogenic 2007.09.12 2007.09.12 2000.11.14 2013.01.31 137 HGSV 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 77570022 1800469 Cor12156_SNV_20070510.chr19_46552136 3.59e-01 non-pathogenic 2007.10.13 2007.10.13 2000.11.14 2013.01.31 137 HGSV 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 78421946 1800469 Cor12878_SNV_20070510.chr19_46552136 3.59e-01 non-pathogenic 2007.10.19 2007.10.19 2000.11.14 2013.01.31 137 KRIBB_YJKIM 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 80744950 1800469 KHS1004690 3.59e-01 non-pathogenic 2007.11.26 2007.11.26 2000.11.14 2013.01.31 137 BCMHGSC_JDW 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 90976639 1800469 JWB-1170446 3.59e-01 non-pathogenic 2008.03.01 2008.03.01 2000.11.14 2013.01.31 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 96268014 1800469 1103691147419 3.59e-01 non-pathogenic 2008.03.26 2008.03.26 2000.11.14 2013.01.31 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 105107320 1800469 PS205143_PA136361077_101 3.59e-01 non-pathogenic 2008.07.23 2008.07.23 2000.11.14 2013.01.31 137 BGI 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 106055548 1800469 BGI_rs1800469 3.59e-01 non-pathogenic 2008.09.13 2009.06.17 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 111391407 1800469 CEU.trio.12.15.2008_3619809_chr19_46552136 3.59e-01 non-pathogenic 2008.12.17 2008.12.17 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 115149698 1800469 NA19240_2008_12_16_3261274_chr19_46552136 3.59e-01 non-pathogenic 2008.12.19 2008.12.19 2000.11.14 2013.01.31 137 ILLUMINA-UK 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 117709351 1800469 NA18507_000047217_NCBI36.1_chr19_46552136 3.59e-01 non-pathogenic 2009.01.20 2009.01.20 2000.11.14 2013.01.31 137 KRIBB_YJKIM 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 119403931 1800469 KHS1566178 3.59e-01 non-pathogenic 2009.02.04 2009.02.04 2000.11.14 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 136262334 1800469 ENSSNP1531701 3.59e-01 non-pathogenic 2009.05.15 2009.10.15 2000.11.14 2013.01.31 137 ENSEMBL 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 137680624 1800469 ENSSNP11447795 3.59e-01 non-pathogenic 2009.05.16 2009.05.16 2000.11.14 2013.01.31 137 GMI 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 155910861 1800469 GMI_SNP_240888117 3.59e-01 non-pathogenic 2009.06.24 2009.06.24 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 160462839 1800469 HumanOmni1-Quad_v1-0_B_rs1800469-128_B_F_1513930080 3.59e-01 non-pathogenic 2009.08.06 2009.10.02 2000.11.14 2013.01.31 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 168214585 1800469 NA07022_36_chr19_46552136 3.59e-01 non-pathogenic 2009.09.30 2009.09.30 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 172924758 1800469 Human1M-Duov3_B_rs1800469-128_B_F_1513930080 3.59e-01 non-pathogenic 2009.10.02 2009.10.02 2000.11.14 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 203757626 1800469 BUSHMAN-chr19-46552135 3.59e-01 non-pathogenic 2010.03.09 2010.03.09 2000.11.14 2013.01.31 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 208468248 1800469 BCM_CMT_1011-3113622 3.59e-01 non-pathogenic 2010.03.19 2010.03.19 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 228145088 1800469 pilot_1_YRI_9954771_chr19_46552136 3.59e-01 non-pathogenic 2010.04.22 2010.04.22 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 237681391 1800469 pilot_1_CEU_7286020_chr19_46552136 3.59e-01 non-pathogenic 2010.05.01 2010.05.01 2000.11.14 2013.01.31 137 1000GENOMES 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 243886511 1800469 pilot_1_CHB+JPT_5771588_chr19_46552136 3.59e-01 non-pathogenic 2010.05.01 2010.05.01 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 244285019 1800469 CVDSNP55v1_A_rs1800469 3.59e-01 non-pathogenic 2010.06.10 2010.06.10 2000.11.14 2013.01.31 137 GMI 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 283213944 1800469 GMI_AK_SNP_7534365 3.59e-01 non-pathogenic 2010.12.16 2010.12.16 2000.11.14 2013.01.31 137 PJP 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 292179508 1800469 SNP_1685866_chr19_46552136 3.59e-01 non-pathogenic 2011.01.21 2011.01.21 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 480300466 1800469 HumanOmni2.5-4v1_B_rs1800469-128_B_F_1779402153 3.59e-01 non-pathogenic 2012.01.31 2012.01.31 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 480311569 1800469 HumanOmniExpress-12v1_C_rs1800469-131_B_F_1862787484 3.59e-01 non-pathogenic 2012.01.31 2012.01.31 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 481067146 1800469 HumanOmni1-Quad_v1-0_C_rs1800469-131_B_F_1862787484 3.59e-01 non-pathogenic 2012.01.31 2012.01.31 2000.11.14 2013.01.31 137 ILLUMINA 7040 NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 484948046 1800469 HumanOmni2.5-4v1_D_rs1800469-131_B_F_1862787484 3.59e-01 non-pathogenic 2012.02.04 2012.02.04 2000.11.14 2013.01.31 137 GENEREVIEWS 7040 NT_011109.15:g.14128514A>G NC_000019.9:g.41860296A>G;NG_013364.1:g.4536T>C;NM_000660.4:c.-1347T>C 647514674 1800469 NT_011109.15:g.14128514A>G 3.59e-01 non-pathogenic 2012.12.12 2012.12.12 2000.11.14 2013.01.31 137 BUSHMAN 7040 NC_000019.9:g.41860497G>C;NG_013364.1:g.4335C>G;NM_000660.4:c.-1548C>G 203757627 112179051 BUSHMAN-chr19-46552336 2010.03.09 2010.03.09 2010.07.04 2011.07.08 137 SNP500CANCER 7040 NC_000019.9:g.41860518G>A;NG_013364.1:g.4314C>T;NM_000660.4:c.-1569C>T 5586938 4987025 MGC4093-02 2.30e-03 2003.03.21 2005.04.12 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860518G>A;NG_013364.1:g.4314C>T;NM_000660.4:c.-1569C>T 340469770 4987025 20100804_snps_12113311_chr19_41860518 2.30e-03 2011.03.22 2011.03.22 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860572T>C;NG_013364.1:g.4260A>G;NM_000660.4:c.-1623A>G 465599025 192776700 20101123_snps_11766255_chr19_41860572 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 HGBASE 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 2420562 1800468 SNP000003235 4.12e-02 2000.11.07 2003.10.10 2000.11.14 2012.11.28 137 TSC-CSHL 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 2739878 1800468 TSC0859296 4.12e-02 2001.01.02 2003.10.10 2000.11.14 2012.11.28 137 DZGENES 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 4319011 1800468 563R0240-1 4.12e-02 2001.11.20 2004.04.07 2000.11.14 2012.11.28 137 SNP500CANCER 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 5586937 1800468 MGC4093-01 4.12e-02 2003.05.29 2005.04.12 2000.11.14 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 15356530 1800468 IIPGA-TGFB1_1705 4.12e-02 2003.11.14 2004.04.07 2000.11.14 2012.11.28 137 CGAP-GAI 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 16257199 1800468 1514451 4.12e-02 2003.11.18 2003.11.22 2000.11.14 2012.11.28 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 51854670 1800468 1141_-799 4.12e-02 2006.02.16 2006.02.16 2000.11.14 2012.11.28 137 PHARMGKB_PHAT 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 105107319 1800468 PS205143_PA136359730_101 4.12e-02 2008.07.23 2008.07.23 2000.11.14 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 168214592 1800468 NA07022_36_chr19_46552427 4.12e-02 2009.09.30 2009.09.30 2000.11.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 237681392 1800468 pilot_1_CEU_7286021_chr19_46552427 4.12e-02 2010.05.01 2010.05.01 2000.11.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 491159836 1800468 20110521_exome_667634_chr19_41860587 4.12e-02 2012.02.22 2012.02.22 2000.11.14 2012.11.28 137 CLINSEQ_SNP 7040 NC_000019.9:g.41860587C>T;NG_013364.1:g.4245G>A;NM_000660.4:c.-1638G>A 491767925 1800468 SNV-chr19-46552427 4.12e-02 2012.03.07 2012.03.13 2000.11.14 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860609C>T;NG_013364.1:g.4223G>A;NM_000660.4:c.-1660G>A 465599026 184348668 20101123_snps_11766256_chr19_41860609 9.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860609C>T;NG_013364.1:g.4223G>A;NM_000660.4:c.-1660G>A 491159837 184348668 20110521_exome_667635_chr19_41860609 9.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 EXOME_CHIP 7040 NC_000019.9:g.41860609C>T;NG_013364.1:g.4223G>A;NM_000660.4:c.-1660G>A 491547797 184348668 nonsyn_264023_chr_19_41860609 9.00e-04 2012.03.06 2012.03.06 2011.09.17 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41860617G>A;NG_013364.1:g.4215C>T;NM_000660.4:c.-1668C>T 342499263 141578342 ESP2500-chr19-41860617 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41860620G>A;NG_013364.1:g.4212C>T;NM_000660.4:c.-1671C>T 340469771 143680317 20100804_snps_12113312_chr19_41860620 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41860620G>A;NG_013364.1:g.4212C>T;NM_000660.4:c.-1671C>T 342499264 143680317 ESP2500-chr19-41860620 5.00e-04 2011.03.27 2011.03.27 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860620G>A;NG_013364.1:g.4212C>T;NM_000660.4:c.-1671C>T 491159838 143680317 20110521_exome_667636_chr19_41860620 5.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41860649C>A;NG_013364.1:g.4183G>T;NM_000660.4:c.-1700G>T 342499265 138230110 ESP2500-chr19-41860649 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 7040 NC_000019.9:g.41860690C>T;NG_013364.1:g.4142G>A;NM_000660.4:c.-1741G>A 342499266 149500212 ESP2500-chr19-41860690 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 7040 NC_000019.9:g.41860691G>A;NG_013364.1:g.4141C>T;NM_000660.4:c.-1742C>T 342499267 143135106 ESP2500-chr19-41860691 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 NHLBI-ESP 7040 NC_000019.9:g.41860738G>A;NG_013364.1:g.4094C>T;NM_000660.4:c.-1789C>T 342499268 138722048 ESP2500-chr19-41860738 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 LEE 7040 NC_000019.9:g.41860759C>T;NG_013364.1:g.4073G>A;NM_000660.4:c.-1810G>A 1533038 1054797 595180 2000.09.13 2003.10.10 2000.10.05 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41860759C>T;NG_013364.1:g.4073G>A;NM_000660.4:c.-1810G>A 342499269 1054797 ESP2500-chr19-41860759 2011.03.27 2011.03.27 2000.10.05 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41860761T>C;NG_013364.1:g.4071A>G;NM_000660.4:c.-1812A>G 342499270 146283712 ESP2500-chr19-41860761 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 HGBASE 7040 NC_000019.9:g.41860775G>T;NG_013364.1:g.4057C>A;NM_000660.4:c.-1826C>A 2420957 1800820 SNP000008179 2000.11.07 2003.10.10 2000.11.14 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41860776C>T;NG_013364.1:g.4056G>A;NM_000660.4:c.-1827G>A 465599027 190798453 20101123_snps_11766257_chr19_41860776 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860776C>T;NG_013364.1:g.4056G>A;NM_000660.4:c.-1827G>A 491159839 190798453 20110521_exome_667637_chr19_41860776 5.00e-04 2012.02.22 2012.02.22 2011.09.17 2012.11.28 137 NHLBI-ESP 7040 NC_000019.9:g.41860797C>T;NG_013364.1:g.4035G>A;NM_000660.4:c.-1848G>A 342499271 139072904 ESP2500-chr19-41860797 2011.03.27 2011.03.27 2011.05.09 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41860824C>T;NG_013364.1:g.4008G>A;NM_000660.4:c.-1875G>A 489167715 201735642 20110521_exome_257218_chr19_41860824 1.40e-03 2012.02.14 2012.02.14 2012.05.04 2012.11.28 137 SEATTLESEQ 7040 NC_000019.9:g.41860854G>C;NG_013364.1:g.3978C>G;NM_000660.4:c.-1905C>G 159739880 74723357 B9D2-46552694 5.00e-04 2009.07.10 2009.07.10 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860854G>C;NG_013364.1:g.3978C>G;NM_000660.4:c.-1905C>G 228145089 74723357 pilot_1_YRI_9954772_chr19_46552694 5.00e-04 2010.04.22 2010.04.22 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860854G>C;NG_013364.1:g.3978C>G;NM_000660.4:c.-1905C>G 491159840 74723357 20110521_exome_667638_chr19_41860854 5.00e-04 2012.02.22 2012.02.22 2009.12.01 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860909C>T;NG_013364.1:g.3923G>A;NM_000660.4:c.-1960G>A 340469772 148087680 20100804_snps_12113313_chr19_41860909 9.00e-04 2011.03.22 2011.03.22 2011.05.09 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860909C>T;NG_013364.1:g.3923G>A;NM_000660.4:c.-1960G>A 491159841 148087680 20110521_exome_667639_chr19_41860909 9.00e-04 2012.02.22 2012.02.22 2011.05.09 2012.11.28 137 EXOME_CHIP 7040 NC_000019.9:g.41860909C>T;NG_013364.1:g.3923G>A;NM_000660.4:c.-1960G>A 491547798 148087680 nonsyn_264024_chr_19_41860909 9.00e-04 2012.03.06 2012.03.06 2011.05.09 2012.11.28 137 DZGENES 7040 NC_000019.9:g.41860934G>C;NG_013364.1:g.3898C>G;NM_000660.4:c.-1985C>G 4319010 3087453 216F0239-2 9.20e-03 2001.11.20 2003.10.10 2002.01.05 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41860934G>C;NG_013364.1:g.3898C>G;NM_000660.4:c.-1985C>G 15356529 3087453 IIPGA-TGFB1_1358 9.20e-03 2003.11.14 2004.04.07 2002.01.05 2012.11.28 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41860934G>C;NG_013364.1:g.3898C>G;NM_000660.4:c.-1985C>G 51854671 3087453 1142_-1146 9.20e-03 2006.02.16 2006.02.16 2002.01.05 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41860934G>C;NG_013364.1:g.3898C>G;NM_000660.4:c.-1985C>G 203757628 3087453 BUSHMAN-chr19-46552773 9.20e-03 2010.03.09 2010.03.09 2002.01.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860934G>C;NG_013364.1:g.3898C>G;NM_000660.4:c.-1985C>G 211965424 3087453 YRI.trio.3.2010_1441636_chr19_46552774 9.20e-03 2010.03.31 2010.03.31 2002.01.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860934G>C;NG_013364.1:g.3898C>G;NM_000660.4:c.-1985C>G 228145090 3087453 pilot_1_YRI_9954773_chr19_46552774 9.20e-03 2010.04.22 2010.04.22 2002.01.05 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41860934G>C;NG_013364.1:g.3898C>G;NM_000660.4:c.-1985C>G 491159842 3087453 20110521_exome_667640_chr19_41860934 9.20e-03 2012.02.22 2012.02.22 2002.01.05 2012.11.28 137 CHANNING_WEISS 7040 NC_000019.9:g.41861018C>T;NG_013364.1:g.3814G>A;NM_000660.4:c.-2069G>A 65919742 41445948 19_46552858_CL17580_MGC4093 2006.10.26 2006.10.26 2006.12.01 2011.07.08 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41861134_41861135insC;NG_013364.1:g.3697_3698insG;NM_000660.4:c.-2186_-2185insG 51854672 36204367 1143_-1349 2006.02.16 2006.02.16 2006.03.16 2011.07.08 137 1000GENOMES 7040 NC_000019.9:g.41861264T>A;NG_013364.1:g.3568A>T;NM_000660.4:c.-2315A>T 340469774 144899065 20100804_snps_12113315_chr19_41861264 5.00e-04 2011.03.22 2011.03.22 2011.05.09 2011.09.09 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 15356528 11466313 IIPGA-TGFB1_952 3.69e-01 2003.11.14 2004.04.07 2004.02.28 2012.11.28 137 ABI 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 41050164 11466313 hCV33846242 3.69e-01 2005.07.17 2005.07.17 2004.02.28 2012.11.28 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 51854673 11466313 1144_-1550 3.69e-01 2006.02.16 2006.02.16 2004.02.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 193511809 11466313 BUSHMAN-chr19-46553177-46553177 3.69e-01 2010.02.16 2010.02.16 2004.02.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 289389098 11466313 GMI_AK_INDEL_1066556 3.69e-01 2010.12.30 2011.12.30 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 327905884 11466313 JPTCHB_chr19_46553177_indel 3.69e-01 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 328033691 11466313 CEU_chr19_46553177_indel 3.69e-01 2011.03.13 2011.04.03 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 328277212 11466313 YRI_chr19_46553177_indel 3.69e-01 2011.03.13 2011.04.04 2004.02.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861337_41861338insCCT;NG_013364.1:g.3494_3495insAGG;NM_000660.4:c.-2389_-2388insAGG 499582440 11466313 20110316_indels_chr19_41861337_41861338 3.69e-01 2012.03.20 2012.03.20 2004.02.28 2012.11.28 137 DEVINE_LAB 7040 NC_000019.9:g.41861338_41861339insCCT;NG_013364.1:g.3493_3494insAGG;NM_000660.4:c.-2390_-2389insAGG 100472472 71944220 INDEL_GP36_2008a_1887356_0 2008.05.16 2008.05.16 2009.02.13 2011.09.17 137 PJP 7040 NC_000019.9:g.41861338_41861339insCCT;NG_013364.1:g.3493_3494insAGG;NM_000660.4:c.-2390_-2389insAGG 294963441 71944220 DIP_401145_chr19_46553178 2011.01.22 2011.01.22 2009.02.13 2011.09.17 137 BGI 7040 NC_000019.9:g.41861340_41861341insCTC;NG_013364.1:g.3491_3492insGAG;NM_000660.4:c.-2392_-2391insGAG 104719174 72544847 BGI_rs11466313 2008.06.09 2008.06.09 2009.02.14 2011.07.08 137 BGI 7040 NC_000019.9:g.41861340_41861341insCTC;NG_013364.1:g.3491_3492insGAG;NM_000660.4:c.-2392_-2391insGAG 105487487 72544847 BGI_YHIndelrs11466313 2008.09.10 2009.06.16 2009.02.14 2011.07.08 137 HGSV 7040 NC_000019.9:g.41861341_41861342insCTC;NG_013364.1:g.3490_3491insGAG;NM_000660.4:c.-2393_-2392insGAG 81884425 56719111 Cor18956_DIV_20070510.chr19_46553181-46553182_1 2007.12.01 2007.12.01 2007.12.14 2011.09.09 137 HGSV 7040 NC_000019.9:g.41861341_41861342insCTC;NG_013364.1:g.3490_3491insGAG;NM_000660.4:c.-2393_-2392insGAG 82140841 56719111 Cor18956_DIV_20070510.chr19_46553181-46553182_2 2007.12.02 2007.12.02 2007.12.14 2011.09.09 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41861341_41861342insCTC;NG_013364.1:g.3490_3491insGAG;NM_000660.4:c.-2393_-2392insGAG 95729065 56719111 1104685412635 2008.03.23 2008.12.03 2007.12.14 2011.09.09 137 BCMHGSC_JDW 7040 NC_000019.9:g.41861341_41861342insCTC;NG_013364.1:g.3490_3491insGAG;NM_000660.4:c.-2393_-2392insGAG 103848771 56719111 JWB-4183192 2008.06.07 2009.05.12 2007.12.14 2011.09.09 137 GMI 7040 NC_000019.9:g.41861341_41861342insCTC;NG_013364.1:g.3490_3491insGAG;NM_000660.4:c.-2393_-2392insGAG 288526147 56719111 GMI_NA10851_INDEL_296540 2010.12.22 2010.12.22 2007.12.14 2011.09.09 137 DEVINE_LAB 7040 NC_000019.9:g.41861339_41861340insCTC;NG_013364.1:g.3492_3493insGAG;NM_000660.4:c.-2391_-2390insGAG 102199458 67603043 INDEL_GP36_2008a_2210360_0 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 DEVINE_LAB 7040 NC_000019.9:g.41861339_41861340insCTC;NG_013364.1:g.3492_3493insGAG;NM_000660.4:c.-2391_-2390insGAG 102199460 67603043 INDEL_GP36_2008a_2210360_1 2008.05.18 2008.05.18 2009.02.06 2011.07.08 137 WI_SSAHASNP 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 6630007 4803457 NT_011109.13_4016875 4.39e-01 2003.02.13 2003.10.10 2003.02.20 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 15356527 4803457 IIPGA-TGFB1_930 4.39e-01 2003.11.14 2004.04.07 2003.02.20 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 16792889 4803457 CSHL-HuAA-200402.chr19.NT_011109.15_14129577 4.39e-01 2004.02.18 2004.03.04 2003.02.20 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 19399136 4803457 CSHL-HuDD-200402.chr19.NT_011109.15_14129577 4.39e-01 2004.02.21 2004.03.04 2003.02.20 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 21514691 4803457 WGSA-200403-chr19.chr19.NT_011109.15_14129577 4.39e-01 2004.03.20 2004.03.20 2003.02.20 2012.11.28 137 ABI 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 40966232 4803457 hCV26824337 4.39e-01 2005.07.17 2005.07.17 2003.02.20 2012.11.28 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 51854674 4803457 1145_-1571 4.39e-01 2006.02.16 2006.02.16 2003.02.20 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 75207293 4803457 ILMN_Human_1M_rs4803457 4.39e-01 2007.08.29 2007.08.29 2003.02.20 2012.11.28 137 HGSV 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 83648872 4803457 Cor18956_SNV_20070510.chr19_46553199 4.39e-01 2007.12.05 2007.12.05 2003.02.20 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 90976642 4803457 JWB-1170447 4.39e-01 2008.03.01 2008.03.01 2003.02.20 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 96268015 4803457 1103691147420 4.39e-01 2008.03.26 2008.03.26 2003.02.20 2012.11.28 137 BGI 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 106055549 4803457 BGI_rs4803457 4.39e-01 2008.09.13 2009.06.17 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 111391415 4803457 CEU.trio.12.15.2008_3619810_chr19_46553199 4.39e-01 2008.12.17 2008.12.17 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 115149707 4803457 NA19240_2008_12_16_3261275_chr19_46553199 4.39e-01 2008.12.19 2008.12.19 2003.02.20 2012.11.28 137 KRIBB_YJKIM 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 119489269 4803457 KHS1651516 4.39e-01 2009.02.04 2009.02.04 2003.02.20 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 132766215 4803457 ENSSNP1531702 4.39e-01 2009.05.12 2009.10.15 2003.02.20 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 137680626 4803457 ENSSNP11447796 4.39e-01 2009.05.16 2009.05.16 2003.02.20 2012.11.28 137 GMI 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 155910865 4803457 GMI_SNP_74263246 4.39e-01 2009.06.24 2009.06.24 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 168214603 4803457 NA07022_36_chr19_46553199 4.39e-01 2009.09.30 2009.09.30 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 169769686 4803457 NA19240_36_chr19_46553199 4.39e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 171771495 4803457 NA20431_36_chr19_46553199 4.39e-01 2009.10.01 2009.10.01 2003.02.20 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 173821568 4803457 Human1M-Duov3_B_rs4803457-128_T_R_1514178152 4.39e-01 2009.10.04 2009.10.04 2003.02.20 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 203757629 4803457 BUSHMAN-chr19-46553198 4.39e-01 2010.03.09 2010.03.09 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 228145091 4803457 pilot_1_YRI_9954774_chr19_46553199 4.39e-01 2010.04.22 2010.04.22 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 237681393 4803457 pilot_1_CEU_7286022_chr19_46553199 4.39e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 243886512 4803457 pilot_1_CHB+JPT_5771589_chr19_46553199 4.39e-01 2010.05.01 2010.05.01 2003.02.20 2012.11.28 137 GMI 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 283213945 4803457 GMI_AK_SNP_7534366 4.39e-01 2010.12.16 2010.12.16 2003.02.20 2012.11.28 137 PJP 7040 NC_000019.9:g.41861359T>C;NG_013364.1:g.3473A>G;NM_000660.4:c.-2410A>G 292179509 4803457 SNP_1685867_chr19_46553199 4.39e-01 2011.01.21 2011.01.21 2003.02.20 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861446T>G;NG_013364.1:g.3386A>C;NM_000660.4:c.-2497A>C 465599028 181949719 20101123_snps_11766258_chr19_41861446 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 1000GENOMES 7040 NC_000019.9:g.41861502G>T;NG_013364.1:g.3330C>A;NM_000660.4:c.-2553C>A 465599029 184551012 20101123_snps_11766259_chr19_41861502 5.00e-04 2011.07.20 2011.07.20 2011.09.17 2011.10.06 137 TSC-CSHL 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 3266074 2317130 TSC1365669 3.76e-01 2001.09.20 2007.08.14 2001.09.28 2012.11.28 137 WI_SSAHASNP 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 6628045 2317130 NT_011109.13_4017190 3.76e-01 2003.02.13 2003.10.10 2001.09.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 15356526 2317130 IIPGA-TGFB1_615 3.76e-01 2003.11.14 2004.04.07 2001.09.28 2012.11.28 137 CSHL-HAPMAP 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 19406277 2317130 CSHL-HuDD-200402.chr19.NT_011109.15_14129892 3.76e-01 2004.02.21 2004.03.04 2001.09.28 2012.11.28 137 SSAHASNP 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 21511416 2317130 WGSA-200403-chr19.chr19.NT_011109.15_14129892 3.76e-01 2004.03.20 2004.03.20 2001.09.28 2012.11.28 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 51854676 2317130 1147_-1886 3.76e-01 2006.02.16 2006.02.16 2001.09.28 2012.11.28 137 ILLUMINA 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 65791058 2317130 Human1-rs2317130 3.76e-01 2006.10.10 2006.10.10 2001.09.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 77182140 2317130 Cor12156_SNV_20070510.chr19_46553514 3.76e-01 2007.10.09 2007.10.11 2001.09.28 2012.11.28 137 HGSV 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 81908666 2317130 Cor18956_SNV_20070510.chr19_46553514 3.76e-01 2007.12.01 2007.12.01 2001.09.28 2012.11.28 137 BCMHGSC_JDW 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 90976644 2317130 JWB-1170448 3.76e-01 2008.03.01 2008.03.01 2001.09.28 2012.11.28 137 HUMANGENOME_JCVI 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 96268016 2317130 1103691147421 3.76e-01 2008.03.26 2008.03.26 2001.09.28 2012.11.28 137 BGI 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 106055550 2317130 BGI_rs2317130 3.76e-01 2008.09.13 2009.06.17 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 111391423 2317130 CEU.trio.12.15.2008_3619811_chr19_46553514 3.76e-01 2008.12.17 2008.12.17 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 115149710 2317130 NA19240_2008_12_16_3261276_chr19_46553514 3.76e-01 2008.12.19 2008.12.19 2001.09.28 2012.11.28 137 ILLUMINA-UK 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 117709353 2317130 NA18507_000047218_NCBI36.1_chr19_46553514 3.76e-01 2009.01.20 2009.01.20 2001.09.28 2012.11.28 137 ENSEMBL 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 132766219 2317130 ENSSNP1531703 3.76e-01 2009.05.12 2009.10.15 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 155910872 2317130 GMI_SNP_201388097 3.76e-01 2009.06.24 2009.06.24 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 168214618 2317130 NA07022_36_chr19_46553514 3.76e-01 2009.09.30 2009.09.30 2001.09.28 2012.11.28 137 COMPLETE_GENOMICS 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 169769699 2317130 NA19240_36_chr19_46553514 3.76e-01 2009.10.01 2009.10.01 2001.09.28 2012.11.28 137 BUSHMAN 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 203757630 2317130 BUSHMAN-chr19-46553513 3.76e-01 2010.03.09 2010.03.09 2001.09.28 2012.11.28 137 BCM-HGSC-SUB 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 208377343 2317130 BCM_CMT_1011-3083394 3.76e-01 2010.03.19 2010.03.19 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 228145092 2317130 pilot_1_YRI_9954775_chr19_46553514 3.76e-01 2010.04.22 2010.04.22 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 237681394 2317130 pilot_1_CEU_7286023_chr19_46553514 3.76e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 1000GENOMES 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 243886513 2317130 pilot_1_CHB+JPT_5771590_chr19_46553514 3.76e-01 2010.05.01 2010.05.01 2001.09.28 2012.11.28 137 GMI 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 283213946 2317130 GMI_AK_SNP_7534367 3.76e-01 2010.12.16 2010.12.16 2001.09.28 2012.11.28 137 PJP 7040 NC_000019.9:g.41861674C>T;NG_013364.1:g.3158G>A;NM_000660.4:c.-2725G>A 292179510 2317130 SNP_1685868_chr19_46553514 3.76e-01 2011.01.21 2011.01.21 2001.09.28 2012.11.28 137 IIPGA-WEISS-MARTINEZ 7040 NC_000019.9:g.41861748G>A;NG_013364.1:g.3084C>T;NM_000660.4:c.-2799C>T 15356525 11466311 IIPGA-TGFB1_541 1.10e-02 2003.11.14 2004.04.07 2004.02.28 2011.09.09 137 STEJUSTINE-REGGEN 7040 NC_000019.9:g.41861748G>A;NG_013364.1:g.3084C>T;NM_000660.4:c.-2799C>T 51854675 11466311 1146_-1960 1.10e-02 2006.02.16 2006.02.16 2004.02.28 2011.09.09 137 1000GENOMES 7040 NC_000019.9:g.41861748G>A;NG_013364.1:g.3084C>T;NM_000660.4:c.-2799C>T 228145093 11466311 pilot_1_YRI_9954776_chr19_46553588 1.10e-02 2010.04.22 2010.04.22 2004.02.28 2011.09.09 137 BCMHGSC_JDW 7040 NC_000019.9:g.41861791G>T;NG_013364.1:g.3041C>A;NM_000660.4:c.-2842C>A 90976646 62121000 JWB-2966633 2008.03.01 2008.03.01 2008.03.24 2011.09.09 137 ENSEMBL 7040 NC_000019.9:g.41861791G>T;NG_013364.1:g.3041C>A;NM_000660.4:c.-2842C>A 137680630 62121000 ENSSNP11447797 2009.05.16 2009.05.16 2008.03.24 2011.09.09 137 # Report date: 2013.2.9, Gene: TGFB1 (7040), ss count: 1784, rs count: 646.