id variation gene hgvs_protein_change hgvs_nucleotide_change variantlocale pathogenicity disease pubmed_id dbsnp summary_insilico summary_frequency summary_published comments lrt_omega phylop_score phylop_pred sift_score sift_pred polyphen2_score polyphen2_pred lrt_score lrt_pred mutationtaster_score mutationtaster_pred gerp_nr gerp_rs gerp_pred evs_ea_ac evs_ea_an evs_ea_af evs_aa_ac evs_aa_an evs_aa_af evs_all_ac evs_all_an evs_all_af otoscope_aj_ac otoscope_aj_an otoscope_aj_af otoscope_co_ac otoscope_co_an otoscope_co_af otoscope_us_ac otoscope_us_an otoscope_us_af otoscope_jp_ac otoscope_jp_an otoscope_jp_af otoscope_es_ac otoscope_es_an otoscope_es_af otoscope_tr_ac otoscope_tr_an otoscope_tr_af otoscope_all_ac otoscope_all_an otoscope_all_af tg_afr_ac tg_afr_an tg_afr_af tg_eur_ac tg_eur_an tg_eur_af tg_amr_ac tg_amr_an tg_amr_af tg_eas_ac tg_eas_an tg_eas_af tg_sas_ac tg_sas_an tg_sas_af tg_all_ac tg_all_an tg_all_af exac_afr_ac exac_afr_an exac_afr_af exac_amr_ac exac_amr_an exac_amr_af exac_eas_ac exac_eas_an exac_eas_af exac_fin_ac exac_fin_an exac_fin_af exac_nfe_ac exac_nfe_an exac_nfe_af exac_oth_ac exac_oth_ant exac_oth_af exac_sas_ac exac_sas_an exac_sas_af exac_all_ac exac_all_an exac_all_af
416016 "chr19:10332109:A>T" "S1PR2" "NM_004230:c.*2411T>A" "THREE_PRIME_EXON" "Unknown significance" "rs770223204" "This variant is a VUS because it does not have enough information."
416017 "chr19:10332123:C>A" "S1PR2" "NM_004230:c.*2397G>T" "THREE_PRIME_EXON" "Unknown significance" "rs558518703" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 1 978 0.001 2 5008 0.000399361
416018 "chr19:10332124:G>A" "S1PR2" "NM_004230:c.*2396C>T" "THREE_PRIME_EXON" "Unknown significance" "rs149404755" "This variant is a VUS because it does not have enough information." 0 1322 0 2 1006 0.002 1 694 0.0014 0 1008 0 1 978 0.001 4 5008 0.000798722
416019 "chr19:10332129:T>C" "S1PR2" "NM_004230:c.*2391A>G" "THREE_PRIME_EXON" "Unknown significance" "rs778103329" "This variant is a VUS because it does not have enough information."
416020 "chr19:10332137:G>A" "S1PR2" "NM_004230:c.*2383C>T" "THREE_PRIME_EXON" "Unknown significance" "rs143790225" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403
416021 "chr19:10332165:C>T" "S1PR2" "NM_004230:c.*2355G>A" "THREE_PRIME_EXON" "Unknown significance" "rs377146753" "This variant is a VUS because it does not have enough information."
416022 "chr19:10332217:C>G" "S1PR2" "NM_004230:c.*2303G>C" "THREE_PRIME_EXON" "Unknown significance" "rs79481092" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416023 "chr19:10332226:C>T" "S1PR2" "NM_004230:c.*2294G>A" "THREE_PRIME_EXON" "Unknown significance" "rs777849554" "This variant is a VUS because it does not have enough information."
416024 "chr19:10332257:T>G" "S1PR2" "NM_004230:c.*2263A>C" "THREE_PRIME_EXON" "Unknown significance" "rs73015122" "This variant is a VUS because it does not have enough information." 0 1322 0 4 1006 0.004 0 694 0 0 1008 0 1 978 0.001 5 5008 0.000998403
416025 "chr19:10332273:G>A" "S1PR2" "NM_004230:c.*2247C>T" "THREE_PRIME_EXON" "Unknown significance" "rs542021716" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416026 "chr19:10332328:C>A" "S1PR2" "NM_004230:c.*2192G>T" "THREE_PRIME_EXON" "Unknown significance" "rs563677819" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416027 "chr19:10332340:G>A" "S1PR2" "NM_004230:c.*2180C>T" "THREE_PRIME_EXON" "Unknown significance" "rs111640725" "This variant is a VUS because it does not have enough information."
416028 "chr19:10332357:A>G" "S1PR2" "NM_004230:c.*2163T>C" "THREE_PRIME_EXON" "Unknown significance" "rs575682796" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722
416029 "chr19:10332364:C>T" "S1PR2" "NM_004230:c.*2156G>A" "THREE_PRIME_EXON" "Unknown significance" "rs545886602" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416030 "chr19:10332391:G>A" "S1PR2" "NM_004230:c.*2129C>T" "THREE_PRIME_EXON" "Unknown significance" "rs564458518" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416031 "chr19:10332417:G>A" "S1PR2" "NM_004230:c.*2103C>T" "THREE_PRIME_EXON" "Unknown significance" "rs781399611" "This variant is a VUS because it does not have enough information."
416032 "chr19:10332429:C>T" "S1PR2" "NM_004230:c.*2091G>A" "THREE_PRIME_EXON" "Unknown significance" "rs528782647" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 2 1008 0.002 0 978 0 3 5008 0.000599042
416033 "chr19:10332430:G>T" "S1PR2" "NM_004230:c.*2090C>A" "THREE_PRIME_EXON" "Unknown significance" "rs368234473" "This variant is a VUS because it does not have enough information."
416034 "chr19:10332455:C>T" "S1PR2" "NM_004230:c.*2065G>A" "THREE_PRIME_EXON" "Unknown significance" "rs746075189" "This variant is a VUS because it does not have enough information."
416035 "chr19:10332456:G>A" "S1PR2" "NM_004230:c.*2064C>T" "THREE_PRIME_EXON" "Benign" "rs115321277" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 33 1322 0.025 0 1006 0 0 694 0 0 1008 0 0 978 0 33 5008 0.00658946
416036 "chr19:10332470:G>A" "S1PR2" "NM_004230:c.*2050C>T" "THREE_PRIME_EXON" "Unknown significance" "rs147346249" "This variant is a VUS because it does not have enough information."
416037 "chr19:10332471:C>T" "S1PR2" "NM_004230:c.*2049G>A" "THREE_PRIME_EXON" "Unknown significance" "rs546472499" "This variant is a VUS because it does not have enough information."
416038 "chr19:10332473:C>T" "S1PR2" "NM_004230:c.*2047G>A" "THREE_PRIME_EXON" "Unknown significance" "rs372293542" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
416039 "chr19:10332474:G>A" "S1PR2" "NM_004230:c.*2046C>T" "THREE_PRIME_EXON" "Unknown significance" "rs76167553" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 1 978 0.001 3 5008 0.000599042
416040 "chr19:10332478:G>A" "S1PR2" "NM_004230:c.*2042C>T" "THREE_PRIME_EXON" "Unknown significance" "rs551152975" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 0 694 0 0 1008 0 1 978 0.001 5 5008 0.000998403
416041 "chr19:10332487:T>C" "S1PR2" "NM_004230:c.*2033A>G" "THREE_PRIME_EXON" "Unknown significance" "rs775855539" "This variant is a VUS because it does not have enough information."
416042 "chr19:10332488:->AC" "S1PR2" "NM_004230:c.*2032_*2033insGT" "THREE_PRIME_EXON" "Unknown significance" "rs777202046" "This variant is a VUS because it does not have enough information."
416043 "chr19:10332489:->AC" "S1PR2" "NM_004230:c.*2031_*2032insGT" "THREE_PRIME_EXON" "Unknown significance" "rs372070428" "This variant is a VUS because it does not have enough information."
416044 "chr19:10332511:C>T" "S1PR2" "NM_004230:c.*2009G>A" "THREE_PRIME_EXON" "Benign" "rs139477595" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 46 1322 0.0348 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 48 5008 0.00958466
416045 "chr19:10332547:T>A" "S1PR2" "NM_004230:c.*1973A>T" "THREE_PRIME_EXON" "Benign" "rs55818584" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 103 1322 0.0779 266 1006 0.2644 151 694 0.2176 86 1008 0.0853 125 978 0.1278 731 5008 0.145966
416046 "chr19:10332569:G>T" "S1PR2" "NM_004230:c.*1951C>A" "THREE_PRIME_EXON" "Unknown significance" "rs551891263" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416047 "chr19:10332574:->G" "S1PR2" "NM_004230:c.*1946_*1947insC" "THREE_PRIME_EXON" "Unknown significance" "rs34208381" "This variant is a VUS because it does not have enough information."
416048 "chr19:10332574:G>A" "S1PR2" "NM_004230:c.*1946C>T" "THREE_PRIME_EXON" "Benign" "rs570426482" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 0 1008 0 5 978 0.0051 5 5008 0.000998403
416049 "chr19:10332582:T>C" "S1PR2" "NM_004230:c.*1938A>G" "THREE_PRIME_EXON" "Unknown significance" "rs771920403" "This variant is a VUS because it does not have enough information."
416050 "chr19:10332588:C>T" "S1PR2" "NM_004230:c.*1932G>A" "THREE_PRIME_EXON" "Unknown significance" "rs534582935" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416051 "chr19:10332617:C>G" "S1PR2" "NM_004230:c.*1903G>C" "THREE_PRIME_EXON" "Unknown significance" "rs577624437" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416052 "chr19:10332652:C>T" "S1PR2" "NM_004230:c.*1868G>A" "THREE_PRIME_EXON" "Unknown significance" "rs574780173" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416053 "chr19:10332664:C>A" "S1PR2" "NM_004230:c.*1856G>T" "THREE_PRIME_EXON" "Unknown significance" "rs535686311" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416054 "chr19:10332686:T>C" "S1PR2" "NM_004230:c.*1834A>G" "THREE_PRIME_EXON" "Unknown significance" "rs527414492" "This variant is a VUS because it does not have enough information."
416055 "chr19:10332696:C>T" "S1PR2" "NM_004230:c.*1824G>A" "THREE_PRIME_EXON" "Unknown significance" "rs773003554" "This variant is a VUS because it does not have enough information."
416056 "chr19:10332705:C>G" "S1PR2" "NM_004230:c.*1815G>C" "THREE_PRIME_EXON" "Unknown significance" "rs74178202" "This variant is a VUS because it does not have enough information."
416057 "chr19:10332706:G>A" "S1PR2" "NM_004230:c.*1814C>T" "THREE_PRIME_EXON" "Unknown significance" "rs143696275" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 3 1008 0.003 0 978 0 3 5008 0.000599042
416058 "chr19:10332715:G>T" "S1PR2" "NM_004230:c.*1805C>A" "THREE_PRIME_EXON" "Unknown significance" "rs188305573" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416059 "chr19:10332743:C>T" "S1PR2" "NM_004230:c.*1777G>A" "THREE_PRIME_EXON" "Unknown significance" "rs147221266" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 3 5008 0.000599042
416060 "chr19:10332746:C>T" "S1PR2" "NM_004230:c.*1774G>A" "THREE_PRIME_EXON" "Unknown significance" "rs35309986" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 1 1006 0.001 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416061 "chr19:10332855:C>T" "S1PR2" "NM_004230:c.*1665G>A" "THREE_PRIME_EXON" "Unknown significance" "rs572936836" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416062 "chr19:10332932:A>-" "S1PR2" "NM_004230:c.*1588delT" "THREE_PRIME_EXON" "Unknown significance" "rs35699769" "This variant is a VUS because it does not have enough information."
416063 "chr19:10332957:T>C" "S1PR2" "NM_004230:c.*1563A>G" "THREE_PRIME_EXON" "Unknown significance" "rs139543274" "This variant is a VUS because it does not have enough information."
416064 "chr19:10332962:C>A" "S1PR2" "NM_004230:c.*1558G>T" "THREE_PRIME_EXON" "Benign" "rs114818137" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 24 1322 0.0182 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 25 5008 0.00499201
416065 "chr19:10332974:C>G" "S1PR2" "NM_004230:c.*1546G>C" "THREE_PRIME_EXON" "Unknown significance" "rs562092502" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416066 "chr19:10332988:C>T" "S1PR2" "NM_004230:c.*1532G>A" "THREE_PRIME_EXON" "Benign" "rs10409243" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 458 1322 0.3464 588 1006 0.5845 300 694 0.4323 244 1008 0.2421 515 978 0.5266 2105 5008 0.420327
416067 "chr19:10332992:G>A" "S1PR2" "NM_004230:c.*1528C>T" "THREE_PRIME_EXON" "Unknown significance" "rs776186056" "This variant is a VUS because it does not have enough information."
416068 "chr19:10333010:C>A" "S1PR2" "NM_004230:c.*1510G>T" "THREE_PRIME_EXON" "Unknown significance" "rs544490629" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416069 "chr19:10333012:C>T" "S1PR2" "NM_004230:c.*1508G>A" "THREE_PRIME_EXON" "Unknown significance" "rs563054244" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722
416070 "chr19:10333020:G>A" "S1PR2" "NM_004230:c.*1500C>T" "THREE_PRIME_EXON" "Unknown significance" "rs759061285" "This variant is a VUS because it does not have enough information."
416071 "chr19:10333039:C>G" "S1PR2" "NM_004230:c.*1481G>C" "THREE_PRIME_EXON" "Unknown significance" "rs530532930" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416072 "chr19:10333046:A>-" "S1PR2" "NM_004230:c.*1474delT" "THREE_PRIME_EXON" "Unknown significance" "rs529718719" "This variant is a VUS because it does not have enough information." 0 1322 0 3 1006 0.003 0 694 0 0 1008 0 1 978 0.001 4 5008 0.000798722
416073 "chr19:10333047:G>A" "S1PR2" "NM_004230:c.*1473C>T" "THREE_PRIME_EXON" "Unknown significance" "rs764803767" "This variant is a VUS because it does not have enough information."
416074 "chr19:10333067:G>A" "S1PR2" "NM_004230:c.*1453C>T" "THREE_PRIME_EXON" "Unknown significance" "rs552280721" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416075 "chr19:10333099:G>A" "S1PR2" "NM_004230:c.*1421C>T" "THREE_PRIME_EXON" "Unknown significance" "rs752380059" "This variant is a VUS because it does not have enough information."
416076 "chr19:10333100:G>C" "S1PR2" "NM_004230:c.*1420C>G" "THREE_PRIME_EXON" "Unknown significance" "rs570538584" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416077 "chr19:10333134:A>G" "S1PR2" "NM_004230:c.*1386T>C" "THREE_PRIME_EXON" "Unknown significance" "rs758643828" "This variant is a VUS because it does not have enough information."
416078 "chr19:10333146:C>T" "S1PR2" "NM_004230:c.*1374G>A" "THREE_PRIME_EXON" "Unknown significance" "rs550099571" "This variant is a VUS because it does not have enough information."
416079 "chr19:10333163:G>A" "S1PR2" "NM_004230:c.*1357C>T" "THREE_PRIME_EXON" "Unknown significance" "rs528137879" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416080 "chr19:10333203:C>A" "S1PR2" "NM_004230:c.*1317G>T" "THREE_PRIME_EXON" "Unknown significance" "rs764557435" "This variant is a VUS because it does not have enough information."
416081 "chr19:10333204:A>G" "S1PR2" "NM_004230:c.*1316T>C" "THREE_PRIME_EXON" "Benign" "rs116016370" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 222 1322 0.1679 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 229 5008 0.0457268
416082 "chr19:10333206:A>G" "S1PR2" "NM_004230:c.*1314T>C" "THREE_PRIME_EXON" "Unknown significance" "rs568371565" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
416083 "chr19:10333247:T>C" "S1PR2" "NM_004230:c.*1273A>G" "THREE_PRIME_EXON" "Unknown significance" "rs535693204" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416084 "chr19:10333288:C>T" "S1PR2" "NM_004230:c.*1232G>A" "THREE_PRIME_EXON" "Unknown significance" "rs10415075" "This variant is a VUS because it does not have enough information."
416085 "chr19:10333342:C>T" "S1PR2" "NM_004230:c.*1178G>A" "THREE_PRIME_EXON" "Unknown significance" "rs757839210" "This variant is a VUS because it does not have enough information."
416086 "chr19:10333446:T>C" "S1PR2" "NM_004230:c.*1074A>G" "THREE_PRIME_EXON" "Benign" "rs75737111" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 4 1006 0.004 0 694 0 70 1008 0.0694 14 978 0.0143 88 5008 0.0175719
416087 "chr19:10333519:A>G" "S1PR2" "NM_004230:c.*1001T>C" "THREE_PRIME_EXON" "Unknown significance" "rs776323559" "This variant is a VUS because it does not have enough information."
416088 "chr19:10333572:T>C" "S1PR2" "NM_004230:c.*948A>G" "THREE_PRIME_EXON" "Unknown significance" "rs375839774" "This variant is a VUS because it does not have enough information."
416089 "chr19:10333575:G>A" "S1PR2" "NM_004230:c.*945C>T" "THREE_PRIME_EXON" "Unknown significance" "rs568999142" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416090 "chr19:10333604:C>T" "S1PR2" "NM_004230:c.*916G>A" "THREE_PRIME_EXON" "Benign" "rs185250322" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 24 1322 0.0182 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 25 5008 0.00499201
416091 "chr19:10333606:C>T" "S1PR2" "NM_004230:c.*914G>A" "THREE_PRIME_EXON" "Unknown significance" "rs558259993" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416092 "chr19:10333680:->A" "S1PR2" "NM_004230:c.*840_*841insT" "THREE_PRIME_EXON" "Benign" "rs558153089" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 208 1322 0.1573 226 1006 0.2247 203 694 0.2925 240 1008 0.2381 247 978 0.2526 1124 5008 0.224441
416093 "chr19:10333703:C>T" "S1PR2" "NM_004230:c.*817G>A" "THREE_PRIME_EXON" "Unknown significance" "rs572999098" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722
416094 "chr19:10333704:G>A" "S1PR2" "NM_004230:c.*816C>T" "THREE_PRIME_EXON" "Unknown significance" "rs540272270" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416095 "chr19:10333707:G>A" "S1PR2" "NM_004230:c.*813C>T" "THREE_PRIME_EXON" "Benign" "rs555303276" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 9 1322 0.0068 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 10 5008 0.00199681
416096 "chr19:10333716:A>C" "S1PR2" "NM_004230:c.*804T>G" "THREE_PRIME_EXON" "Unknown significance" "rs144263589" "This variant is a VUS because it does not have enough information."
416097 "chr19:10333731:T>C" "S1PR2" "NM_004230:c.*789A>G" "THREE_PRIME_EXON" "Unknown significance" "rs573999764" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
416098 "chr19:10333774:T>C" "S1PR2" "NM_004230:c.*746A>G" "THREE_PRIME_EXON" "Benign" "rs11880277" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 313 1322 0.2368 1 1006 0.001 6 694 0.0086 0 1008 0 1 978 0.001 321 5008 0.0640974
416099 "chr19:10333811:C>T" "S1PR2" "NM_004230:c.*709G>A" "THREE_PRIME_EXON" "Unknown significance" "rs11672059" "This variant is a VUS because it does not have enough information."
416100 "chr19:10333830:G>A" "S1PR2" "NM_004230:c.*690C>T" "THREE_PRIME_EXON" "Benign" "rs113804225" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 77 1322 0.0582 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 81 5008 0.0161741
416101 "chr19:10333841:T>C" "S1PR2" "NM_004230:c.*679A>G" "THREE_PRIME_EXON" "Unknown significance" "rs761763926" "This variant is a VUS because it does not have enough information."
416102 "chr19:10333842:C>T" "S1PR2" "NM_004230:c.*678G>A" "THREE_PRIME_EXON" "Unknown significance" "rs148328365" "This variant is a VUS because it does not have enough information."
416103 "chr19:10333845:AAAAAAAAAAA>-" "S1PR2" "NM_004230:c.*675_*687delTTTTTTTTTTT" "THREE_PRIME_EXON" "Unknown significance" "rs779228186" "This variant is a VUS because it does not have enough information."
416104 "chr19:10333934:G>A" "S1PR2" "NM_004230:c.*586C>T" "THREE_PRIME_EXON" "Benign" "rs538799740" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 1 1006 0.001 1 694 0.0014 0 1008 0 6 978 0.0061 8 5008 0.00159744
416105 "chr19:10333979:G>A" "S1PR2" "NM_004230:c.*541C>T" "THREE_PRIME_EXON" "Unknown significance" "rs189137467" "This variant is a VUS because it does not have enough information."
416106 "chr19:10333980:G>A" "S1PR2" "NM_004230:c.*540C>T" "THREE_PRIME_EXON" "Unknown significance" "rs558789721" "This variant is a VUS because it does not have enough information."
416107 "chr19:10334028:G>A" "S1PR2" "NM_004230:c.*492C>T" "THREE_PRIME_EXON" "Benign" "rs144320768" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 10 1322 0.0076 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 11 5008 0.00219649
416108 "chr19:10334030:C>T" "S1PR2" "NM_004230:c.*490G>A" "THREE_PRIME_EXON" "Unknown significance" "rs564208800" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 4 978 0.0041 4 5008 0.000798722
416109 "chr19:10334031:A>G" "S1PR2" "NM_004230:c.*489T>C" "THREE_PRIME_EXON" "Unknown significance" "rs528150291" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 4 978 0.0041 4 5008 0.000798722
416110 "chr19:10334039:A>G" "S1PR2" "NM_004230:c.*481T>C" "THREE_PRIME_EXON" "Unknown significance" "rs756289370" "This variant is a VUS because it does not have enough information."
416111 "chr19:10334076:G>A" "S1PR2" "NM_004230:c.*444C>T" "THREE_PRIME_EXON" "Unknown significance" "rs546621525" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 1 1006 0.001 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
416112 "chr19:10334093:C>A" "S1PR2" "NM_004230:c.*427G>T" "THREE_PRIME_EXON" "Unknown significance" "rs181902354" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416113 "chr19:10334102:C>T" "S1PR2" "NM_004230:c.*418G>A" "THREE_PRIME_EXON" "Benign" "rs183589749" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 5 1006 0.005 2 694 0.0029 0 1008 0 4 978 0.0041 11 5008 0.00219649
416114 "chr19:10334110:C>G" "S1PR2" "NM_004230:c.*410G>C" "THREE_PRIME_EXON" "Benign" "rs188338262" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 10 1322 0.0076 0 1006 0 0 694 0 0 1008 0 0 978 0 10 5008 0.00199681
416115 "chr19:10334115:T>C" "S1PR2" "NM_004230:c.*405A>G" "THREE_PRIME_EXON" "Unknown significance" "rs561184497" "This variant is a VUS because it does not have enough information."
416116 "chr19:10334118:C>T" "S1PR2" "NM_004230:c.*402G>A" "THREE_PRIME_EXON" "Unknown significance" "rs559827831" "This variant is a VUS because it does not have enough information."
416117 "chr19:10334119:G>T" "S1PR2" "NM_004230:c.*401C>A" "THREE_PRIME_EXON" "Unknown significance" "rs534824645" "This variant is a VUS because it does not have enough information."
416118 "chr19:10334120:C>T" "S1PR2" "NM_004230:c.*400G>A" "THREE_PRIME_EXON" "Benign" "rs181198866" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 6 1008 0.006 0 978 0 6 5008 0.00119808
416119 "chr19:10334130:->C" "S1PR2" "NM_004230:c.*390_*391insG" "THREE_PRIME_EXON" "Unknown significance" "rs34016247" "This variant is a VUS because it does not have enough information."
416120 "chr19:10334156:C>T" "S1PR2" "NM_004230:c.*364G>A" "THREE_PRIME_EXON" "Unknown significance" "rs539668453" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416121 "chr19:10334190:G>A" "S1PR2" "NM_004230:c.*330C>T" "THREE_PRIME_EXON" "Unknown significance" "rs754654557" "This variant is a VUS because it does not have enough information."
416122 "chr19:10334198:G>A" "S1PR2" "NM_004230:c.*322C>T" "THREE_PRIME_EXON" "Unknown significance" "rs767819389" "This variant is a VUS because it does not have enough information."
416123 "chr19:10334252:A>C" "S1PR2" "NM_004230:c.*268T>G" "THREE_PRIME_EXON" "Unknown significance" "rs557522753" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416124 "chr19:10334285:G>A" "S1PR2" "NM_004230:c.*235C>T" "THREE_PRIME_EXON" "Unknown significance" "rs566636069" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416125 "chr19:10334325:G>A" "S1PR2" "NM_004230:c.*195C>T" "THREE_PRIME_EXON" "Unknown significance" "rs533986129" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416126 "chr19:10334329:G>A" "S1PR2" "NM_004230:c.*191C>T" "THREE_PRIME_EXON" "Unknown significance" "rs555080829" "This variant is a VUS because it does not have enough information."
416127 "chr19:10334382:G>A" "S1PR2" "NM_004230:c.*138C>T" "THREE_PRIME_EXON" "Benign" "rs116309379" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 24 1322 0.0182 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 25 5008 0.00499201
416128 "chr19:10334417:C>T" "S1PR2" "NM_004230:c.*103G>A" "THREE_PRIME_EXON" "Unknown significance" "rs574009566" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416129 "chr19:10334418:G>A" "S1PR2" "NM_004230:c.*102C>T" "THREE_PRIME_EXON" "Unknown significance" "rs753016578" "This variant is a VUS because it does not have enough information."
416130 "chr19:10334440:C>T" "S1PR2" "NM_004230:c.*80G>A" "THREE_PRIME_EXON" "Benign" "rs537826575" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 16 1322 0.0121 0 1006 0 0 694 0 0 1008 0 0 978 0 16 5008 0.00319489
416131 "chr19:10334443:A>C" "S1PR2" "NM_004230:c.*77T>G" "THREE_PRIME_EXON" "Benign" "rs2116941" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1142 1322 0.8638 821 1006 0.8161 558 694 0.804 564 1008 0.5595 785 978 0.8027 3870 5008 0.772764
416132 "chr19:10334443:A>T" "S1PR2" "NM_004230:c.*77T>A" "THREE_PRIME_EXON" "Unknown significance" "rs2116941" "This variant is a VUS because it does not have enough information."
416133 "chr19:10334457:G>T" "S1PR2" "NM_004230:c.*63C>A" "THREE_PRIME_EXON" "Unknown significance" "rs578178978" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416134 "chr19:10334470:C>G" "S1PR2" "NM_004230:c.*50G>C" "THREE_PRIME_EXON" "Unknown significance" "rs761373331" "This variant is a VUS because it does not have enough information." 0 8886 0 0 11298 0 0 8340 0 0 6450 0 1 60500 0.0000165289 0 736 0 0 8814 0 1 105024 0.00000952163
416135 "chr19:10334474:C>A" "S1PR2" "NM_004230:c.*46G>T" "THREE_PRIME_EXON" "Unknown significance" "rs764867123" "This variant is a VUS because it does not have enough information." 0 8886 0 2 11294 0.000177085 0 8344 0 0 6442 0 0 60524 0 0 738 0 0 8814 0 2 105042 0.00001904
416136 "chr19:10334476:A>G" "S1PR2" "NM_004230:c.*44T>C" "THREE_PRIME_EXON" "Unknown significance" "rs772959230" "This variant is a VUS because it does not have enough information." 0 8884 0 0 11304 0 1 8352 0.000119732 0 6454 0 0 60590 0 0 742 0 0 8842 0 1 105168 0.0000095086
416137 "chr19:10334478:G>T" "S1PR2" "NM_004230:c.*42C>A" "THREE_PRIME_EXON" "Unknown significance" "rs545591591" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 8882 0 0 11294 0 0 8338 0 0 6462 0 0 60600 0 0 738 0 13 8846 0.00146959 13 105160 0.000123621
416138 "chr19:10334480:A>G" "S1PR2" "NM_004230:c.*40T>C" "THREE_PRIME_EXON" "Unknown significance" "rs767947690" "This variant is a VUS because it does not have enough information." 0 8908 0 0 11302 0 0 8354 0 0 6458 0 1 60652 0.0000164875 0 742 0 0 8842 0 1 105258 0.00000950047
416139 "chr19:10334481:C>A" "S1PR2" "NM_004230:c.*39G>T" "THREE_PRIME_EXON" "Unknown significance" "rs753104727" "This variant is a VUS because it does not have enough information." 1 8900 0.00011236 0 11306 0 0 8352 0 0 6464 0 0 60650 0 0 740 0 0 8848 0 1 105260 0.00000950029
416140 "chr19:10334483:C>T" "S1PR2" "NM_004230:c.*37G>A" "THREE_PRIME_EXON" "Unknown significance" "rs560621469" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416141 "chr19:10334494:G>T" "S1PR2" "NM_004230:c.*26C>A" "THREE_PRIME_EXON" "Unknown significance" "rs370864731" "This variant is a VUS because it does not have enough information." 0 8574 0 2 4368 0.000457875 2 12942 0.000154536 2 8958 0.000223264 0 11342 0 0 8376 0 0 6464 0 0 60852 0 0 746 0 0 8868 0 2 105606 0.0000189383
416142 "chr19:10334497:T>C" "S1PR2" "NM_004230:c.*23A>G" "THREE_PRIME_EXON" "Unknown significance" "rs764211203" "This variant is a VUS because it does not have enough information." 0 8968 0 0 11356 0 1 8380 0.000119332 0 6482 0 0 60958 0 0 746 0 0 8888 0 1 105778 0.00000945376
416143 "chr19:10334499:GTT>-" "S1PR2" "NM_004230:c.*21_*25delAAC" "THREE_PRIME_EXON" "Unknown significance" "rs753076607" "This variant is a VUS because it does not have enough information." 2 8990 0.000222469 1 11354 0.0000880747 0 8384 0 0 6480 0 0 60996 0 0 746 0 0 8898 0 3 105848 0.0000283425
416144 "chr19:10334516:A>C" "S1PR2" "NM_004230:c.*4T>G" "THREE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 9074 0 0 11382 0 0 8388 0 0 6506 0 3 61290 0.0000489476 0 742 0 0 8954 0 3 106336 0.0000282125
416145 "chr19:10334517:C>-" "S1PR2" "NM_004230:c.*3delG" "THREE_PRIME_EXON" "Unknown significance" "rs763419270" "This variant is a VUS because it does not have enough information." 0 9074 0 0 11382 0 0 8388 0 0 6506 0 2 61290 0.0000326318 0 742 0 0 8954 0 2 106336 0.0000188083
416146 "chr19:10334517:C>A" "S1PR2" "NM_004230:c.*3G>T" "THREE_PRIME_EXON" "Unknown significance" "rs372799945" "This variant is a VUS because it does not have enough information." 1 8596 0.000116333 0 4400 0 1 12996 0.0000769468 0 9078 0 0 11384 0 0 8390 0 0 6510 0 1 61302 0.0000163127 0 742 0 0 8962 0 1 106368 0.00000940132
416147 "chr19:10334524:A>G" "S1PR2" "NM_004230:p.Val353Ala" "NM_004230:c.1058T>C" "EXON2" "Unknown significance" "rs757477621" "This variant is a VUS because it does not have enough information." 1.083 "C" "0.97" "D" 0.000601 "D" 0.987394 "D" "5.28" "C" 0 9120 0 0 11388 0 0 8390 0 0 6516 0 0 61428 0 0 746 0 2 8980 0.000222717 2 106568 0.0000187674
416148 "chr19:10334529:C>T" "S1PR2" "NM_004230:p.Thr351Thr" "NM_004230:c.1053G>A" "EXON2" "Unknown significance" "rs779243053" "This variant is a VUS because it does not have enough information." 0 9164 0 0 11388 0 0 8394 0 0 6518 0 0 61530 0 0 750 0 1 8986 0.000111284 1 106730 0.00000936944
416149 "chr19:10334530:G>C" "S1PR2" "NM_004230:p.Thr351Arg" "NM_004230:c.1052C>G" "EXON2" "Unknown significance" "rs750703133" "This variant is a VUS because it does not have enough information." 0.949 "N" "0.997" "D" 0.008503 "N" 0.999986 "D" "5.49" "C" 0 9172 0 0 11390 0 0 8398 0 0 6516 0 1 61562 0.0000162438 0 752 0 0 8996 0 1 106786 0.00000936452
416150 "chr19:10334532:G>A" "S1PR2" "NM_004230:p.Asn350Asn" "NM_004230:c.1050C>T" "EXON2" "Benign" "rs116191851" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 5 8598 0.000581531 404 4402 0.0917765 409 13000 0.0314615 131 1322 0.0991 1 1006 0.001 2 694 0.0029 0 1008 0 0 978 0 134 5008 0.0267572 902 9302 0.0969684 40 11390 0.00351185 1 8398 0.000119076 0 6516 0 9 61574 0.000146166 4 750 0.00533333 0 9002 0 956 106932 0.00894026
416151 "chr19:10334542:A>G" "S1PR2" "NM_004230:p.Leu347Pro" "NM_004230:c.1040T>C" "EXON2" "Unknown significance" "rs779925683" "This variant is a VUS because it does not have enough information." 1.083 "C" "0.0" "B" 0.599526 "N" 0.99986 "D" "5.49" "C" 0 9272 0 0 11398 0 0 8402 0 0 6502 0 1 61656 0.000016219 0 750 0 0 9056 0 1 107036 0.00000934265
416152 "chr19:10334546:A>G" "S1PR2" "NM_004230:p.Phe346Leu" "NM_004230:c.1036T>C" "EXON2" "Likely benign" "rs746867139" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 1.083 "C" "0.0" "B" 0.830826 "N" 1 "N" "4.46" "C" 0 9236 0 0 11388 0 1 8398 0.000119076 0 6488 0 0 61606 0 0 750 0 0 9080 0 1 106946 0.00000935051
416153 "chr19:10334548:G>T" "S1PR2" "NM_004230:p.Thr345Lys" "NM_004230:c.1034C>A" "EXON2" "Likely benign" "rs540296894" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 0.064 "N" "0.435" "B" 0.00374 "N" 0.998881 "N" "4.45" "C" 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 2 9254 0.000216123 0 11390 0 0 8402 0 0 6488 0 0 61644 0 0 750 0 0 9116 0 2 107044 0.0000186839
416154 "chr19:10334550:G>A" "S1PR2" "NM_004230:p.Pro344Pro" "NM_004230:c.1032C>T" "EXON2" "Unknown significance" "rs561751764" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 9264 0 0 11392 0 1 8408 0.000118934 0 6490 0 0 61688 0 0 752 0 0 9144 0 1 107138 0.00000933376
416155 "chr19:10334551:G>T" "S1PR2" "NM_004230:p.Pro344His" "NM_004230:c.1031C>A" "EXON2" "Unknown significance" "rs747628779" "This variant is a VUS because it does not have enough information." 0.949 "N" "0.998" "D" 0.005072 "N" 0.91811 "D" "5.49" "C" 0 9270 0 0 11392 0 0 8410 0 0 6490 0 1 61702 0.0000162069 0 752 0 0 9152 0 1 107168 0.00000933114
416156 "chr19:10334556:C>T" "S1PR2" "NM_004230:p.Thr342Thr" "NM_004230:c.1026G>A" "EXON2" "Unknown significance" "rs377376944" "This variant is a VUS because it does not have enough information." 1 8598 0.000116306 0 4404 0 1 13002 0.0000769112 0 9278 0 0 11390 0 4 8420 0.000475059 0 6486 0 5 61724 0.0000810058 0 750 0 1 9214 0.00010853 10 107262 0.0000932297
416157 "chr19:10334556:C>A" "S1PR2" "NM_004230:p.Thr342Thr" "NM_004230:c.1026G>T" "EXON2" "Unknown significance" "rs377376944" "This variant is a VUS because it does not have enough information." 0 9278 0 0 11390 0 0 8420 0 0 6486 0 1 61724 0.0000162012 0 750 0 0 9214 0 1 107262 0.00000932297
416158 "chr19:10334557:G>A" "S1PR2" "NM_004230:p.Thr342Met" "NM_004230:c.1025C>T" "EXON2" "Unknown significance" "rs762697846" "This variant is a VUS because it does not have enough information." 0.949 "N" "0.999" "D" 0.00489 "N" 0.999926 "D" "5.49" "C" 0 9286 0 0 11388 0 0 8416 0 0 6478 0 1 61738 0.0000161975 0 750 0 0 9266 0 1 107322 0.00000931775
416159 "chr19:10334568:C>T" "S1PR2" "NM_004230:p.Met338Ile" "NM_004230:c.1014G>A" "EXON2" "Likely benign" "rs772259151" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -0.45 "N" "0.0" "B" 0.447133 "N" 0.985703 "N" "-2.93" "N" 0 9272 0 0 11382 0 0 8438 0 0 6456 0 0 61772 0 0 752 0 1 9628 0.000103864 1 107700 0.00000928505
416160 "chr19:10334569:A>G" "S1PR2" "NM_004230:p.Met338Thr" "NM_004230:c.1013T>C" "EXON2" "Likely benign" "rs775936073" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -0.844 "N" "0.0" "B" 0.447133 "N" 0.969363 "N" "-1.89" "N" 0 9286 0 14 11386 0.00122958 0 8438 0 0 6458 0 0 61792 0 0 754 0 0 9734 0 14 107848 0.000129812
416161 "chr19:10334573:C>A" "S1PR2" "NM_004230:p.Gly337Cys" "NM_004230:c.1009G>T" "EXON2" "Likely benign" "rs761178651" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.848 "N" "0.001" "B" 0.168508 "N" 0.948859 "D" "3.94" "C" 0 9262 0 0 11386 0 0 8452 0 0 6442 0 5 61748 0.0000809743 0 758 0 0 9938 0 5 107986 0.0000463023
416162 "chr19:10334583:G>A" "S1PR2" "NM_004230:p.Ser333Ser" "NM_004230:c.999C>T" "EXON2" "Unknown significance" "rs764691626" "This variant is a VUS because it does not have enough information." 1 9214 0.00010853 0 11374 0 0 8458 0 0 6396 0 0 61690 0 0 770 0 0 10666 0 1 108568 0.00000921082
416163 "chr19:10334590:G>C" "S1PR2" "NM_004230:p.Ser331Cys" "NM_004230:c.992C>G" "EXON2" "Unknown significance" "rs754434903" "This variant is a VUS because it does not have enough information." 0.949 "N" "1.0" "D" 0.06082 "N" 1 "D" "5.49" "C" 0 9182 0 1 11358 0.0000880437 0 8464 0 0 6374 0 0 61662 0 0 768 0 0 11100 0 1 108908 0.00000918206
416164 "chr19:10334596:C>T" "S1PR2" "NM_004230:p.Arg329His" "NM_004230:c.986G>A" "EXON2" "Unknown significance" "rs143246348" "This variant is a VUS because it does not have enough information." 0.848 "N" "0.999" "D" 0.574503 "N" 0.999137 "D" "5.49" "C" 1 8598 0.000116306 0 4404 0 1 13002 0.0000769112 0 9170 0 0 11330 0 0 8452 0 0 6330 0 3 61548 0.0000487424 0 770 0 0 11478 0 3 109078 0.0000275033
416165 "chr19:10334597:G>A" "S1PR2" "NM_004230:p.Arg329Cys" "NM_004230:c.985C>T" "EXON2" "Unknown significance" "rs765378016" "This variant is a VUS because it does not have enough information." 0.949 "N" "1.0" "D" 0.574503 "N" 0.999995 "D" "4.42" "C" 0 9108 0 0 11312 0 0 8454 0 0 6320 0 3 61276 0.0000489588 0 762 0 0 11566 0 3 108798 0.000027574
416166 "chr19:10334601:T>C" "S1PR2" "NM_004230:p.Pro327Pro" "NM_004230:c.981A>G" "EXON2" "Unknown significance" "rs146709827" "This variant is a VUS because it does not have enough information." 2 8598 0.000232612 0 4404 0 2 13002 0.000153822 0 9002 0 0 11280 0 7 8432 0.000830171 0 6276 0 10 60912 0.000164171 0 766 0 0 11692 0 17 108360 0.000156884
416167 "chr19:10334608:A>G" "S1PR2" "NM_004230:p.Leu325Pro" "NM_004230:c.974T>C" "EXON2" "Unknown significance" "rs758647424" "This variant is a VUS because it does not have enough information." 1.083 "C" "0.996" "D" 0.172188 "N" 1 "D" "5.49" "C"
416168 "chr19:10334609:G>A" "S1PR2" "NM_004230:p.Leu325Phe" "NM_004230:c.973C>T" "EXON2" "Likely benign" "rs780202015" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.949 "N" "0.076" "B" 0.172188 "N" 0.915763 "D" "4.46" "C" 0 8976 0 0 11248 0 0 8418 0 1 6224 0.000160668 0 60820 0 0 760 0 0 12314 0 1 108760 0.00000919456
416169 "chr19:10334610:G>C" "S1PR2" "NM_004230:p.His324Gln" "NM_004230:c.972C>G" "EXON2" "Likely benign" "rs370704501" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -0.426 "N" "0.0" "B" 0.869167 "N" 0.999069 "N" "-0.0682" "N"
416170 "chr19:10334610:G>A" "S1PR2" "NM_004230:p.His324His" "NM_004230:c.972C>T" "EXON2" "Unknown significance" "rs370704501" "This variant is a VUS because it does not have enough information." 1 8596 0.000116333 0 4402 0 1 12998 0.0000769349 0 8892 0 0 11216 0 0 8408 0 0 6186 0 1 60586 0.0000165055 0 764 0 0 12308 0 1 108360 0.0000092285
416171 "chr19:10334611:T>G" "S1PR2" "NM_004230:p.His324Pro" "NM_004230:c.971A>C" "EXON2" "Likely benign" "rs754811711" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -1.733 "N" "0.105" "B" 0.869167 "N" 0.996076 "N" "-3.79" "N"
416172 "chr19:10334614:T>G" "S1PR2" "NM_004230:p.His323Pro" "NM_004230:c.968A>C" "EXON2" "Unknown significance" "rs781086264" "This variant is a VUS because it does not have enough information." 0.961 "C" "0.475" "P" 0.111793 "N" 0.991349 "D" "3.01" "C"
416173 "chr19:10334619:C>T" "S1PR2" "NM_004230:p.Pro321Pro" "NM_004230:c.963G>A" "EXON2" "Unknown significance" "rs748108934" "This variant is a VUS because it does not have enough information." 0 8664 0 2 11130 0.000179695 0 8298 0 0 6016 0 1 59630 0.0000167701 0 750 0 0 13060 0 3 107548 0.0000278945
416174 "chr19:10334621:G>C" "S1PR2" "NM_004230:p.Pro321Ala" "NM_004230:c.961C>G" "EXON2" "Likely benign" "rs769255115" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.949 "N" "0.132" "B" 0.62882 "N" 0.999789 "D" "5.49" "C" 0 8708 0 0 11152 0 0 8336 0 0 6036 0 0 59922 0 0 760 0 2 13172 0.000151837 2 108086 0.0000185038
416175 "chr19:10334624:T>C" "S1PR2" "NM_004230:p.Thr320Ala" "NM_004230:c.958A>G" "EXON2" "Likely benign" "rs777343288" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.961 "C" "0.001" "B" 0.850092 "N" 0.907028 "N" "3.42" "C" 0 8316 0 0 10860 0 0 8028 0 0 5380 0 1 57784 0.0000173058 0 706 0 0 12402 0 1 103476 0.00000966408
416176 "chr19:10334625:C>T" "S1PR2" "NM_004230:p.Gly319Gly" "NM_004230:c.957G>A" "EXON2" "Unknown significance" "rs748833361" "This variant is a VUS because it does not have enough information."
416177 "chr19:10334627:C>T" "S1PR2" "NM_004230:p.Gly319Arg" "NM_004230:c.955G>A" "EXON2" "Likely benign" "rs139097585" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 0.848 "N" "0.001" "B" 0.654838 "N" 0.922875 "N" "0.917" "C" 2 8580 0.0002331 1 4390 0.00022779 3 12970 0.000231303 1 8530 0.000117233 0 11088 0 0 8270 0 0 5906 0 8 59338 0.000134821 0 744 0 0 13416 0 9 107292 0.0000838832
416178 "chr19:10334628:G>A" "S1PR2" "NM_004230:p.Gly318Gly" "NM_004230:c.954C>T" "EXON2" "Unknown significance" "rs773940288" "This variant is a VUS because it does not have enough information." 0 8496 0 0 11062 0 0 8250 0 0 5836 0 1 59182 0.000016897 0 744 0 0 13368 0 1 106938 0.00000935121
416179 "chr19:10334632:C>T" "S1PR2" "NM_004230:p.Arg317Gln" "NM_004230:c.950G>A" "EXON2" "Unknown significance" "rs201451279" "This variant is a VUS because it does not have enough information." 0.012 "N" "0.8" "P" 0.870226 "N" 0.522058 "D" "4.46" "C" 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 8462 0 0 11068 0 0 8272 0 0 5902 0 2 59294 0.0000337302 0 752 0 0 13576 0 2 107326 0.0000186348
416180 "chr19:10334633:G>A" "S1PR2" "NM_004230:p.Arg317Trp" "NM_004230:c.949C>T" "EXON2" "Unknown significance" "rs376162016" "This variant is a VUS because it does not have enough information." 0.78 "N" "1.0" "D" 0.870226 "N" 0.936728 "D" "4.43" "C" 1 8562 0.000116795 0 4378 0 1 12940 0.0000772798 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 8454 0 0 11054 0 0 8268 0 0 5806 0 5 59292 0.0000843284 0 746 0 1 13604 0.0000735078 6 107224 0.0000559576
416181 "chr19:10334638:C>T" "S1PR2" "NM_004230:p.Arg315Gln" "NM_004230:c.944G>A" "EXON2" "Likely benign" "rs777226501" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.848 "N" "0.829" "P" 0.420256 "N" 0.982797 "N" "4.42" "C" 0 8430 0 4 11096 0.00036049 0 8246 0 0 5908 0 3 59484 0.0000504337 0 758 0 0 13974 0 7 107896 0.0000648773
416182 "chr19:10334639:G>A" "S1PR2" "NM_004230:p.Arg315Trp" "NM_004230:c.943C>T" "EXON2" "Likely benign" "rs762437563" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.949 "N" "0.994" "D" 0.420256 "N" 0.999819 "N" "1.79" "C" 0 8438 0 0 11078 0 10 8252 0.00121183 0 5866 0 0 59530 0 0 768 0 0 14030 0 10 107962 0.0000926252
416183 "chr19:10334647:A>C" "S1PR2" "NM_004230:p.Val312Gly" "NM_004230:c.935T>G" "EXON2" "Likely benign" "rs765160621" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 1.083 "C" "0.0" "B" 0.401901 "N" 0.999987 "N" "-3.36" "N"
416184 "chr19:10334648:C>G" "S1PR2" "NM_004230:p.Val312Leu" "NM_004230:c.934G>C" "EXON2" "Likely benign" "rs750507202" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." 0.848 "N" "0.0" "B" 0.401901 "N" 1 "N" "-1.37" "N" 0 8216 0 2 11072 0.000180636 0 8218 0 0 5960 0 0 59200 0 0 772 0 0 14458 0 2 107896 0.0000185364
416185 "chr19:10334653:A>C" "S1PR2" "NM_004230:p.Val310Gly" "NM_004230:c.929T>G" "EXON2" "Likely benign" "rs763014040" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -0.471 "N" "0.001" "B" 0.6913 "N" 1 "N" "-1.01" "N"
416186 "chr19:10334655:C>A" "S1PR2" "NM_004230:p.Gly309Gly" "NM_004230:c.927G>T" "EXON2" "Unknown significance" "rs766595919" "This variant is a VUS because it does not have enough information." 0 8228 0 0 11078 0 0 8200 0 0 5990 0 1 59374 0.0000168424 0 776 0 0 14752 0 1 108398 0.00000922526
416187 "chr19:10334656:C>A" "S1PR2" "NM_004230:p.Gly309Val" "NM_004230:c.926G>T" "EXON2" "Likely benign" "rs751831715" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -0.512 "N" "0.025" "B" 0.000172 "N" 0.999975 "N" "-0.332" "N"
416188 "chr19:10334658:C>T" "S1PR2" "NM_004230:p.Pro308Pro" "NM_004230:c.924G>A" "EXON2" "Unknown significance" "rs754720067" "This variant is a VUS because it does not have enough information." 0 8220 0 0 11082 0 0 8202 0 0 5980 0 0 59454 0 0 778 0 2 14862 0.000134571 2 108578 0.0000184199
416189 "chr19:10334659:G>A" "S1PR2" "NM_004230:p.Pro308Leu" "NM_004230:c.923C>T" "EXON2" "Unknown significance" "rs200973983" "This variant is a VUS because it does not have enough information." -1.136 "N" "0.056" "B" 0.347955 "U" 1 "N" "-10.4" "N" 2 8496 0.000235405 1 4326 0.00023116 3 12822 0.000233973 5 8272 0.000604449 1 11064 0.0000903832 0 8214 0 0 5888 0 14 59448 0.0002355 0 780 0 0 14936 0 20 108602 0.000184159
416190 "chr19:10334662:C>T" "S1PR2" "NM_004230:p.Arg307Lys" "NM_004230:c.920G>A" "EXON2" "Likely benign" "rs752564111" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." -0.491 "N" "0.0" "B" 0.719289 "N" 1 "N" "0.584" "C" 1 8370 0.000119474 0 11122 0 0 8236 0 0 6010 0 0 59998 0 0 788 0 0 15146 0 1 109670 0.00000911826
416191 "chr19:10334663:T>A" "S1PR2" "NM_004230:p.Arg307Trp" "NM_004230:c.919A>T" "EXON2" "Likely benign" "rs2116942" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." -0.413 "N" "0.0" "B" 0.719289 "N" 0.997003 "N" "1.65" "C" 0 8830 0 0 11030 0 27 8210 0.00328867 2 5908 0.000338524 0 61294 0 0 812 0 1 16034 0.0000623675 30 112118 0.000267575
416192 "chr19:10334663:T>G" "S1PR2" "NM_004230:p.Arg307Arg" "NM_004230:c.919A>C" "EXON2" "Benign" "rs2116942" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 5012 8518 0.588401 3127 4346 0.719512 8139 12864 0.632696 1015 1322 0.7678 593 1006 0.5895 317 694 0.4568 312 1008 0.3095 527 978 0.5389 2764 5008 0.551917 6474 8830 0.733182 4622 11030 0.419039 2485 8210 0.30268 2957 5908 0.500508 35951 61294 0.586534 469 812 0.577586 8366 16034 0.521766 61324 112118 0.546959
416193 "chr19:10334667:G>C" "S1PR2" "NM_004230:p.Cys305Trp" "NM_004230:c.915C>G" "EXON2" "Unknown significance" "rs748826184" "This variant is a VUS because it does not have enough information." 0.949 "N" "0.97" "D" 0 "D" 1 "D" "4.45" "C" 0 8970 0 0 11208 0 1 8270 0.000120919 0 6110 0 0 62054 0 0 824 0 0 16114 0 1 113550 0.00000880669
416194 "chr19:10334673:C>T" "S1PR2" "NM_004230:p.Leu303Leu" "NM_004230:c.909G>A" "EXON2" "Unknown significance" "rs756755776" "This variant is a VUS because it does not have enough information." 0 8982 0 1 11218 0.0000891424 0 8278 0 0 6134 0 0 62096 0 0 824 0 0 16150 0 1 113682 0.00000879647
416195 "chr19:10334676:C>T" "S1PR2" "NM_004230:p.Pro302Pro" "NM_004230:c.906G>A" "EXON2" "Unknown significance" "rs778604580" "This variant is a VUS because it does not have enough information." 0 9006 0 1 11218 0.0000891424 1 8280 0.000120773 0 6128 0 0 62094 0 0 824 0 7 16160 0.000433168 9 113710 0.0000791487
416196 "chr19:10334677:G>A" "S1PR2" "NM_004230:p.Pro302Leu" "NM_004230:c.905C>T" "EXON2" "Unknown significance" "rs528470769" "This variant is a VUS because it does not have enough information." 0.953 "C" "0.001" "B" 0.013339 "N" 0.999959 "D" "3.38" "C" 0 9058 0 0 11222 0 0 8274 0 0 6142 0 2 62224 0.0000321419 0 830 0 0 16188 0 2 113938 0.0000175534
416197 "chr19:10334679:C>T" "S1PR2" "NM_004230:p.Arg301Arg" "NM_004230:c.903G>A" "EXON2" "Benign" "rs149865919" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 8578 0 69 4386 0.0157319 69 12964 0.00532243 43 1322 0.0325 0 1006 0 0 694 0 0 1008 0 0 978 0 43 5008 0.00858626 145 9094 0.0159446 10 11236 0.000889996 0 8280 0 0 6158 0 3 62298 0.0000481556 0 832 0 1 16200 0.0000617284 159 114098 0.00139354
416198 "chr19:10334679:C>A" "S1PR2" "NM_004230:p.Arg301Arg" "NM_004230:c.903G>T" "EXON2" "Unknown significance" "rs149865919" "This variant is a VUS because it does not have enough information." 0 9094 0 0 11236 0 0 8280 0 0 6158 0 0 62298 0 0 832 0 1 16200 0.0000617284 1 114098 0.0000087644
416199 "chr19:10334680:C>G" "S1PR2" "NM_004230:p.Arg301Pro" "NM_004230:c.902G>C" "EXON2" "Unknown significance" "rs748604714" "This variant is a VUS because it does not have enough information." 0.852 "N" "1.0" "D" 0.000001 "D" 1 "D" "5.49" "C" 0 9110 0 0 11240 0 0 8278 0 0 6148 0 1 62316 0.0000160472 0 828 0 0 16208 0 1 114128 0.00000876209
416200 "chr19:10334681:G>A" "S1PR2" "NM_004230:p.Arg301Trp" "NM_004230:c.901C>T" "EXON2" "Unknown significance" "rs551166280" "This variant is a VUS because it does not have enough information." 0.075 "N" "1.0" "D" 0.000001 "D" 0.999997 "D" "3.28" "C" 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361 0 9194 0 0 11234 0 0 8276 0 0 6156 0 0 62454 0 0 832 0 22 16238 0.00135485 22 114384 0.000192335
416201 "chr19:10334686:A>C" "S1PR2" "NM_004230:p.Val299Gly" "NM_004230:c.896T>G" "EXON2" "Unknown significance" "rs79193144" "This variant is a VUS because it does not have enough information." 1.088 "C" "0.971" "D" 0.000053 "D" 1 "D" "5.49" "C"
416202 "chr19:10334692:C>G" "S1PR2" "NM_004230:p.Arg297Pro" "NM_004230:c.890G>C" "EXON2" "Unknown significance" "rs773635875" "This variant is a VUS because it does not have enough information." 0.852 "N" "0.8" "P" 0.012065 "N" 0.929115 "D" "2.2" "C" 0 9310 0 0 11270 0 0 8298 0 0 6234 0 0 62908 0 0 836 0 1 16334 0.000061222 1 115190 0.00000868131
416203 "chr19:10334693:G>A" "S1PR2" "NM_004230:p.Arg297Trp" "NM_004230:c.889C>T" "EXON2" "Likely benign" "rs763068319" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.017 "N" "0.99" "D" 0.012065 "N" 0.923613 "D" "-1.58" "N" 0 9342 0 1 11280 0.0000886525 0 8302 0 0 6226 0 0 63018 0 0 838 0 0 16348 0 1 115354 0.00000866897
416204 "chr19:10334695:C>T" "S1PR2" "NM_004230:p.Arg296Gln" "NM_004230:c.887G>A" "EXON2" "Unknown significance" "rs766392869" "This variant is a VUS because it does not have enough information." 0.852 "N" "1.0" "D" 0 "D" 1 "D" "5.49" "C" 0 9312 0 0 11282 0 0 8302 0 0 6230 0 1 62988 0.000015876 0 836 0 1 16356 0.0000611396 2 115306 0.0000173452
416205 "chr19:10334696:G>A" "S1PR2" "NM_004230:p.Arg296Trp" "NM_004230:c.886C>T" "EXON2" "Unknown significance" "rs774518653" "This variant is a VUS because it does not have enough information." 0.953 "C" "1.0" "D" 0 "D" 0.999994 "D" "2.03" "C" 0 9234 0 0 11282 0 0 8302 0 0 6244 0 1 62898 0.0000158988 0 838 0 0 16366 0 1 115164 0.00000868327
416206 "chr19:10334700:G>A" "S1PR2" "NM_004230:p.Asp294Asp" "NM_004230:c.882C>T" "EXON2" "Unknown significance" "rs35493500" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 9328 0 1 11290 0.000088574 40 8306 0.0048158 0 6250 0 12 63160 0.000189994 0 840 0 0 16384 0 53 115558 0.000458644
416207 "chr19:10334703:C>G" "S1PR2" "NM_004230:p.Arg293Arg" "NM_004230:c.879G>C" "EXON2" "Unknown significance" "rs767243037" "This variant is a VUS because it does not have enough information." 0 9354 0 0 11294 0 0 8302 0 0 6244 0 1 63236 0.0000158138 0 842 0 0 16396 0 1 115668 0.00000864543
416208 "chr19:10334704:C>T" "S1PR2" "NM_004230:p.Arg293Gln" "NM_004230:c.878G>A" "EXON2" "Likely benign" "rs376403797" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.852 "N" "0.09" "B" 0.000594 "N" 0.919956 "D" "4.46" "C" 1 8598 0.000116306 0 4402 0 1 13000 0.0000769231 0 9374 0 0 11296 0 0 8306 0 0 6240 0 1 63264 0.0000158068 0 842 0 0 16388 0 1 115710 0.0000086423
416209 "chr19:10334705:G>A" "S1PR2" "NM_004230:p.Arg293Trp" "NM_004230:c.877C>T" "EXON2" "Unknown significance" "rs370698200" "This variant is a VUS because it does not have enough information." 0.953 "C" "0.996" "D" 0.000594 "D" 0.994642 "D" "4.38" "C" 2 8600 0.000232558 0 4404 0 2 13004 0.000153799 0 9474 0 0 11290 0 0 8312 0 0 6244 0 2 63418 0.0000315368 0 846 0 0 16398 0 2 115982 0.0000172441
416210 "chr19:10334715:C>T" "S1PR2" "NM_004230:p.Thr289Thr" "NM_004230:c.867G>A" "EXON2" "Unknown significance" "rs557191214" "This variant is a VUS because it does not have enough information." 0 9642 0 0 11334 0 0 8324 0 0 6274 0 6 63952 0.0000938204 0 850 0 0 16428 0 6 116804 0.0000513681
416211 "chr19:10334716:G>A" "S1PR2" "NM_004230:p.Thr289Met" "NM_004230:c.866C>T" "EXON2" "Unknown significance" "rs373228288" "This variant is a VUS because it does not have enough information." 0.953 "C" "1.0" "D" 0 "D" 1 "D" "5.49" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 9678 0 0 11332 0 0 8326 0 0 6276 0 3 64024 0.0000468574 0 852 0 0 16434 0 3 116922 0.0000256581
416212 "chr19:10334722:A>G" "S1PR2" "NM_004230:p.Ile287Thr" "NM_004230:c.860T>C" "EXON2" "Unknown significance" "rs144903812" "This variant is a VUS because it does not have enough information." 1.088 "C" "1.0" "D" 0 "D" 1 "D" "5.49" "C" 1 8600 0.000116279 0 4404 0 1 13004 0.0000768994 0 9754 0 0 11346 0 0 8330 0 0 6286 0 1 64224 0.0000155705 0 854 0 0 16440 0 1 117234 0.00000852995
416213 "chr19:10334725:A>G" "S1PR2" "NM_004230:p.Val286Ala" "NM_004230:c.857T>C" "EXON2" "Benign" "rs117064827" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1.088 "C" "0.961" "D" 0.003723 "N" 0.999794 "D" "5.49" "C" 77 8600 0.00895349 8 4404 0.00181653 85 13004 0.00653645 0 1322 0 14 1006 0.0139 1 694 0.0014 2 1008 0.002 0 978 0 17 5008 0.00339457 16 9784 0.00163532 29 11350 0.00255507 21 8332 0.0025204 63 6294 0.0100095 663 64316 0.0103085 3 858 0.0034965 47 16440 0.00285888 842 117374 0.00717365
416214 "chr19:10334726:C>T" "S1PR2" "NM_004230:p.Val286Ile" "NM_004230:c.856G>A" "EXON2" "Unknown significance" "rs377336539" "This variant is a VUS because it does not have enough information." 0.852 "N" "0.65" "P" 0.003723 "N" 0.919813 "D" "4.46" "C" 2 8600 0.000232558 0 4404 0 2 13004 0.000153799 0 9792 0 0 11348 0 0 8332 0 0 6284 0 6 64338 0.0000932575 0 858 0 0 16434 0 6 117386 0.0000511134
416215 "chr19:10334727:G>A" "S1PR2" "NM_004230:p.Pro285Pro" "NM_004230:c.855C>T" "EXON2" "Unknown significance" "rs202092003" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 9826 0 0 11354 0 22 8334 0.00263979 0 6298 0 2 64412 0.0000310501 0 856 0 0 16438 0 24 117518 0.000204224
416216 "chr19:10334738:G>A" "S1PR2" "NM_004230:p.Leu282Leu" "NM_004230:c.844C>T" "EXON2" "Unknown significance" "rs186708543" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 9896 0 0 11368 0 17 8360 0.00203349 0 6320 0 1 64648 0.0000154684 0 866 0 0 16450 0 18 117908 0.000152661
416217 "chr19:10334748:G>T" "S1PR2" "NM_004230:p.Thr278Thr" "NM_004230:c.834C>A" "EXON2" "Unknown significance" "rs201888564" "This variant is a VUS because it does not have enough information."
416218 "chr19:10334753:A>G" "S1PR2" "NM_004230:p.Ser277Pro" "NM_004230:c.829T>C" "EXON2" "Unknown significance" "rs748496507" "This variant is a VUS because it does not have enough information." 0.018 "N" "0.001" "B" 0 "D" 0.846349 "D" "4.46" "C" 0 9944 0 0 11392 0 0 8382 0 0 6336 0 1 64888 0.0000154112 0 868 0 0 16452 0 1 118262 0.0000084558
416219 "chr19:10334756:C>T" "S1PR2" "NM_004230:p.Val276Ile" "NM_004230:c.826G>A" "EXON2" "Likely benign" "rs146537931" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.165 "N" "0.029" "B" 0.000007 "D" 0.998607 "N" "5.49" "C" 0 8600 0 7 4406 0.00158874 7 13006 0.000538213 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 1 978 0.001 3 5008 0.000599042 13 9952 0.00130627 0 11390 0 0 8386 0 0 6328 0 2 64908 0.0000308128 0 866 0 7 16452 0.00042548 22 118282 0.000185996
416220 "chr19:10334757:G>A" "S1PR2" "NM_004230:p.Ala275Ala" "NM_004230:c.825C>T" "EXON2" "Unknown significance" "rs201255057" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 2 694 0.0029 1 1008 0.001 0 978 0 4 5008 0.000798722 0 9960 0 1 11394 0.0000877655 1 8396 0.000119104 0 6336 0 0 64912 0 0 866 0 1 16448 0.0000607977 3 118312 0.0000253567
416221 "chr19:10334759:C>T" "S1PR2" "NM_004230:p.Ala275Thr" "NM_004230:c.823G>A" "EXON2" "Unknown significance" "rs371414653" "This variant is a VUS because it does not have enough information." 0.852 "N" "0.859" "P" 0.001267 "N" 0.849147 "D" "3.27" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 9964 0 0 11396 0 0 8388 0 0 6334 0 1 64936 0.0000153998 0 866 0 1 16450 0.0000607903 2 118334 0.0000169013
416222 "chr19:10334760:G>A" "S1PR2" "NM_004230:p.Phe274Phe" "NM_004230:c.822C>T" "EXON2" "Unknown significance" "rs200327403" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 9968 0 0 11400 0 2 8392 0.000238322 0 6344 0 0 64958 0 0 864 0 0 16452 0 2 118378 0.000016895
416223 "chr19:10334766:G>C" "S1PR2" "NM_004230:p.Tyr272Stop" "NM_004230:c.816C>G" "EXON2" "Unknown significance" "rs774428989" "This variant is a VUS because it does not have enough information." 0.091 "N" 0.002962 "N" 1 "D" "4.22" "C" 0 9984 0 0 11412 0 0 8404 0 0 6348 0 1 65036 0.0000153761 0 868 0 0 16452 0 1 118504 0.00000843853
416224 "chr19:10334771:G>A" "S1PR2" "NM_004230:p.His271Tyr" "NM_004230:c.811C>T" "EXON2" "Unknown significance" "rs375937928" "This variant is a VUS because it does not have enough information." 0.953 "C" "0.202" "B" 0.016727 "N" 0.8723 "D" "5.49" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 9996 0 0 11412 0 0 8412 0 0 6366 0 1 65082 0.0000153652 0 872 0 0 16452 0 1 118592 0.00000843227
416225 "chr19:10334784:G>A" "S1PR2" "NM_004230:p.Ile266Ile" "NM_004230:c.798C>T" "EXON2" "Unknown significance" "rs539310677" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10018 0 0 11420 0 0 8430 0 0 6376 0 1 65142 0.0000153511 0 874 0 1 16454 0.0000607755 2 118714 0.0000168472
416226 "chr19:10334786:T>A" "S1PR2" "NM_004230:p.Ile266Phe" "NM_004230:c.796A>T" "EXON2" "Likely benign" "rs147817898" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." -0.51 "N" "0.627" "P" 0.046133 "N" 0.991306 "N" "-8.51" "N" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876
416227 "chr19:10334787:C>T" "S1PR2" "NM_004230:p.Pro265Pro" "NM_004230:c.795G>A" "EXON2" "Unknown significance" "rs554422074" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10018 0 0 11416 0 0 8436 0 0 6374 0 3 65110 0.0000460759 0 874 0 1 16454 0.0000607755 4 118682 0.0000337035
416228 "chr19:10334788:G>C" "S1PR2" "NM_004230:p.Pro265Arg" "NM_004230:c.794C>G" "EXON2" "Unknown significance" "rs572711891" "This variant is a VUS because it does not have enough information." 0.953 "C" "0.981" "D" 0.001327 "N" 0.999441 "D" "5.63" "C" 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10022 0 0 11424 0 0 8436 0 0 6370 0 0 65136 0 0 876 0 18 16454 0.00109396 18 118718 0.00015162
416229 "chr19:10334788:G>A" "S1PR2" "NM_004230:p.Pro265Leu" "NM_004230:c.794C>T" "EXON2" "Unknown significance" "rs572711891" "This variant is a VUS because it does not have enough information." 0.953 "C" "0.985" "D" 0.001327 "N" 0.999998 "D" "5.63" "C" 0 10022 0 0 11424 0 0 8436 0 0 6370 0 1 65136 0.0000153525 0 876 0 1 16454 0.0000607755 2 118718 0.0000168466
416230 "chr19:10334797:T>A" "S1PR2" "NM_004230:p.His262Leu" "NM_004230:c.785A>T" "EXON2" "Likely benign" "rs753765649" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 0 "N" "0.0" "B" 0.006628 "N" 1 "N" "2.18" "C" 0 10036 0 0 11424 0 0 8436 0 0 6378 0 1 65170 0.0000153445 0 876 0 0 16458 0 1 118778 0.00000841907
416231 "chr19:10334799:G>A" "S1PR2" "NM_004230:p.Val261Val" "NM_004230:c.783C>T" "EXON2" "Unknown significance" "rs761658384" "This variant is a VUS because it does not have enough information." 0 10040 0 0 11422 0 5 8448 0.000591856 0 6386 0 0 65210 0 0 880 0 0 16462 0 5 118848 0.0000420705
416232 "chr19:10334801:C>T" "S1PR2" "NM_004230:p.Val261Ile" "NM_004230:c.781G>A" "EXON2" "Likely benign" "rs199824841" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 0.007 "N" "0.14" "B" 0.008662 "N" 1 "N" "3.39" "C" 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 0 10038 0 1 11424 0.000087535 0 8446 0 0 6380 0 0 65198 0 0 878 0 1 16464 0.0000607386 2 118828 0.000016831
416233 "chr19:10334802:G>A" "S1PR2" "NM_004230:p.Pro260Pro" "NM_004230:c.780C>T" "EXON2" "Unknown significance" "rs776554535" "This variant is a VUS because it does not have enough information." 0 10046 0 0 11426 0 4 8452 0.000473261 0 6390 0 4 65216 0.0000613346 0 878 0 1 16462 0.000060746 9 118870 0.000075713
416234 "chr19:10334815:T>C" "S1PR2" "NM_004230:p.Asp256Gly" "NM_004230:c.767A>G" "EXON2" "Unknown significance" "rs758026150" "This variant is a VUS because it does not have enough information." 0.964 "C" "0.996" "D" 0 "D" 1 "D" "5.63" "C" 0 10046 0 0 11430 0 0 8470 0 0 6394 0 1 65264 0.0000153224 0 876 0 0 16472 0 1 118952 0.00000840675
416235 "chr19:10334825:G>A" "S1PR2" "NM_004230:p.Leu253Phe" "NM_004230:c.757C>T" "EXON2" "Unknown significance" "rs779835099" "This variant is a VUS because it does not have enough information." 1.048 "C" "1.0" "D" 0.000001 "D" 1 "D" "5.81" "C" 0 10076 0 0 11438 0 0 8476 0 0 6396 0 1 65294 0.0000153153 0 880 0 0 16478 0 1 119038 0.00000840068
416236 "chr19:10334829:G>A" "S1PR2" "NM_004230:p.Ser251Ser" "NM_004230:c.753C>T" "EXON2" "Unknown significance" "rs751196531" "This variant is a VUS because it does not have enough information." 0 10072 0 0 11434 0 0 8480 0 0 6382 0 1 65282 0.0000153182 0 880 0 0 16478 0 1 119008 0.0000084028
416237 "chr19:10334833:A>C" "S1PR2" "NM_004230:p.Phe250Cys" "NM_004230:c.749T>G" "EXON2" "Unknown significance" "rs756465285" "This variant is a VUS because it does not have enough information." 1.199 "C" "1.0" "D" 0 "D" 1 "D" "5.81" "C" 0 10078 0 0 11444 0 0 8492 0 0 6388 0 1 65306 0.0000153125 0 878 0 0 16490 0 1 119076 0.000008398
416238 "chr19:10334838:G>T" "S1PR2" "NM_004230:p.Pro248Pro" "NM_004230:c.744C>A" "EXON2" "Unknown significance" "rs141379245" "This variant is a VUS because it does not have enough information." 6 8600 0.000697674 0 4406 0 6 13006 0.000461326 0 10094 0 0 11450 0 0 8506 0 2 6384 0.000313283 68 65336 0.00104077 0 878 0 1 16486 0.0000606575 71 119134 0.000595968
416239 "chr19:10334838:G>A" "S1PR2" "NM_004230:p.Pro248Pro" "NM_004230:c.744C>T" "EXON2" "Unknown significance" "rs141379245" "This variant is a VUS because it does not have enough information." 1 10094 0.0000990688 0 11450 0 0 8506 0 0 6384 0 0 65336 0 0 878 0 0 16486 0 1 119134 0.00000839391
416240 "chr19:10334840:G>A" "S1PR2" "NM_004230:p.Pro248Ser" "NM_004230:c.742C>T" "EXON2" "Unknown significance" "rs771414562" "This variant is a VUS because it does not have enough information." 1.048 "C" "1.0" "D" 0 "D" 1 "D" "5.81" "C" 0 10044 0 0 11448 0 0 8500 0 0 6318 0 3 65216 0.000046001 0 874 0 0 16488 0 3 118888 0.0000252338
416241 "chr19:10334843:G>C" "S1PR2" "NM_004230:p.Leu247Val" "NM_004230:c.739C>G" "EXON2" "Unknown significance" "rs779462145" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.996" "D" 0.000007 "D" 0.999994 "D" "4.78" "C" 0 10106 0 0 11460 0 0 8516 0 0 6388 0 0 65438 0 0 880 0 2 16490 0.000121286 2 119278 0.0000167676
416242 "chr19:10334847:G>A" "S1PR2" "NM_004230:p.Cys245Cys" "NM_004230:c.735C>T" "EXON2" "Unknown significance" "rs745916504" "This variant is a VUS because it does not have enough information." 0 10130 0 0 11466 0 0 8522 0 0 6396 0 0 65504 0 1 880 0.00113636 0 16488 0 1 119386 0.00000837619
416243 "chr19:10334852:C>A" "S1PR2" "NM_004230:p.Val244Phe" "NM_004230:c.730G>T" "EXON2" "Likely benign" "rs146526013" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -1.582 "N" "0.004" "B" 0.168256 "N" 1 "N" "-0.194" "N" 0 10132 0 0 11478 0 0 8526 0 0 6390 0 1 65596 0.0000152448 0 880 0 0 16496 0 1 119498 0.00000836834
416244 "chr19:10334852:C>T" "S1PR2" "NM_004230:p.Val244Ile" "NM_004230:c.730G>A" "EXON2" "Likely benign" "rs146526013" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -1.582 "N" "0.002" "B" 0.168256 "N" 1 "N" "-0.194" "N" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876
416245 "chr19:10334853:G>A" "S1PR2" "NM_004230:p.Ile243Ile" "NM_004230:c.729C>T" "EXON2" "Unknown significance" "rs148315102" "This variant is a VUS because it does not have enough information." 2 8600 0.000232558 0 4406 0 2 13006 0.000153775 0 10134 0 0 11480 0 0 8534 0 0 6404 0 6 65600 0.0000914634 0 882 0 0 16492 0 6 119526 0.0000501983
416246 "chr19:10334861:C>T" "S1PR2" "NM_004230:p.Val241Ile" "NM_004230:c.721G>A" "EXON2" "Unknown significance" "rs141471894" "This variant is a VUS because it does not have enough information." 0.04 "N" "0.992" "D" 0.001257 "N" 0.999993 "D" "4.76" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10152 0 0 11486 0 0 8550 0 0 6402 0 3 65688 0.0000456704 0 880 0 0 16494 0 3 119652 0.0000250727
416247 "chr19:10334862:G>A" "S1PR2" "NM_004230:p.Gly240Gly" "NM_004230:c.720C>T" "EXON2" "Unknown significance" "rs768428205" "This variant is a VUS because it does not have enough information." 0 10160 0 0 11484 0 2 8550 0.000233918 0 6408 0 0 65684 0 0 880 0 0 16496 0 2 119662 0.0000167137
416248 "chr19:10334865:T>C" "S1PR2" "NM_004230:p.Leu239Leu" "NM_004230:c.717A>G" "EXON2" "Unknown significance" "rs150395684" "This variant is a VUS because it does not have enough information." 0 8600 0 11 4406 0.0024966 11 13006 0.000845763 28 10176 0.00275157 1 11496 0.0000869868 0 8560 0 0 6418 0 0 65730 0 0 880 0 0 16498 0 29 119758 0.000242155
416249 "chr19:10334870:C>T" "S1PR2" "NM_004230:p.Val238Met" "NM_004230:c.712G>A" "EXON2" "Unknown significance" "rs775103370" "This variant is a VUS because it does not have enough information." 0.935 "N" "1.0" "D" 0.000065 "D" 1 "D" "5.81" "C" 0 10192 0 0 11502 0 0 8574 0 0 6414 0 1 65768 0.000015205 0 880 0 0 16496 0 1 119826 0.00000834543
416250 "chr19:10334871:G>A" "S1PR2" "NM_004230:p.Ile237Ile" "NM_004230:c.711C>T" "EXON2" "Unknown significance" "rs765239276" "This variant is a VUS because it does not have enough information." 0 10190 0 0 11502 0 1 8574 0.000116632 0 6422 0 0 65776 0 0 878 0 1 16500 0.0000606061 2 119842 0.0000166886
416251 "chr19:10334874:G>A" "S1PR2" "NM_004230:p.Thr236Thr" "NM_004230:c.708C>T" "EXON2" "Unknown significance" "rs750438454" "This variant is a VUS because it does not have enough information." 0 10200 0 0 11506 0 0 8586 0 0 6428 0 1 65794 0.000015199 0 882 0 0 16502 0 1 119898 0.00000834042
416252 "chr19:10334881:G>A" "S1PR2" "NM_004230:p.Thr234Met" "NM_004230:c.701C>T" "EXON2" "Unknown significance" "rs762506865" "This variant is a VUS because it does not have enough information." 1.048 "C" "1.0" "D" 0.000091 "D" 0.999999 "D" "4.72" "C" 0 10214 0 0 11510 0 0 8596 0 0 6430 0 0 65872 0 0 884 0 1 16498 0.0000606134 1 120004 0.00000833306
416253 "chr19:10334890:->TGTGACTCTGAGCAGTTTGCTTGATCTCTCTGAACTCACACCTCCATA" "S1PR2" "NM_004230:c.692_693insTATGGAGGTGTGAGTTCAGAGAGATCAAGCAAACTGCTCAGAGTCACA" "EXON2" "Unknown significance" "rs764685514" "This variant is a VUS because it does not have enough information."
416254 "chr19:10334890:A>G" "S1PR2" "NM_004230:p.Leu231Pro" "NM_004230:c.692T>C" "EXON2" "Unknown significance" "rs766020432" "This variant is a VUS because it does not have enough information." 1.199 "C" "1.0" "D" 0.000002 "D" 1 "D" "5.81" "C" 0 10222 0 0 11508 0 0 8596 0 0 6452 0 2 65918 0.0000303407 0 884 0 0 16504 0 2 120084 0.000016655
416255 "chr19:10334892:G>A" "S1PR2" "NM_004230:p.Ala230Ala" "NM_004230:c.690C>T" "EXON2" "Unknown significance" "rs751157414" "This variant is a VUS because it does not have enough information."
416256 "chr19:10334894:C>T" "S1PR2" "NM_004230:p.Ala230Thr" "NM_004230:c.688G>A" "EXON2" "Unknown significance" "rs754600043" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.925" "P" 0.000008 "D" 0.999803 "D" "5.81" "C"
416257 "chr19:10334898:C>T" "S1PR2" "NM_004230:p.Thr228Thr" "NM_004230:c.684G>A" "EXON2" "Unknown significance" "rs780958549" "This variant is a VUS because it does not have enough information." 0 10230 0 0 11510 0 0 8602 0 0 6446 0 2 65954 0.0000303242 0 886 0 0 16502 0 2 120130 0.0000166486
416258 "chr19:10334899:G>A" "S1PR2" "NM_004230:p.Thr228Met" "NM_004230:c.683C>T" "EXON2" "Unknown significance" "rs754150207" "This variant is a VUS because it does not have enough information." 1.048 "C" "1.0" "D" 0.000047 "D" 0.999996 "D" "5.81" "C" 0 10238 0 0 11512 0 0 8604 0 0 6456 0 5 65972 0.0000757897 0 884 0 0 16502 0 5 120168 0.0000416084
416259 "chr19:10334904:C>T" "S1PR2" "NM_004230:p.Pro226Pro" "NM_004230:c.678G>A" "EXON2" "Unknown significance" "rs757657597" "This variant is a VUS because it does not have enough information." 0 10228 0 0 11516 0 0 8604 0 0 6456 0 0 65974 0 0 882 0 1 16502 0.0000605987 1 120162 0.0000083221
416260 "chr19:10334905:G>A" "S1PR2" "NM_004230:p.Pro226Leu" "NM_004230:c.677C>T" "EXON2" "Unknown significance" "rs561868200" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.008" "B" 0.010485 "N" 0.976707 "D" "5.81" "C" 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 0 10236 0 1 11520 0.0000868056 0 8606 0 0 6464 0 3 65990 0.0000454614 0 884 0 0 16500 0 4 120200 0.0000332779
416261 "chr19:10334909:C>T" "S1PR2" "NM_004230:p.Ala225Thr" "NM_004230:c.673G>A" "EXON2" "Unknown significance" "rs143046723" "This variant is a VUS because it does not have enough information." 0.065 "N" "0.013" "B" 0.187156 "U" 1 "N" "4.78" "C" 5 8600 0.000581395 0 4406 0 5 13006 0.000384438 0 10244 0 0 11520 0 0 8606 0 0 6454 0 21 66002 0.000318172 0 884 0 0 16504 0 21 120214 0.000174688
416262 "chr19:10334910:G>A" "S1PR2" "NM_004230:p.Ala224Ala" "NM_004230:c.672C>T" "EXON2" "Benign" "rs73922356" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 8600 0 55 4406 0.012483 55 13006 0.00422882 18 1322 0.0136 0 1006 0 0 694 0 0 1008 0 0 978 0 18 5008 0.00359425 116 10248 0.0113193 6 11524 0.000520653 0 8606 0 0 6466 0 6 65992 0.0000909201 0 884 0 0 16504 0 128 120224 0.00106468
416263 "chr19:10334915:T>C" "S1PR2" "NM_004230:p.Met223Val" "NM_004230:c.667A>G" "EXON2" "Likely benign" "rs779999418" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." -0.339 "N" "0.0" "B" 0.00999 "N" 1 "N" "-0.835" "N" 1 10256 0.0000975039 0 11530 0 0 8614 0 0 6478 0 1 66046 0.000015141 0 884 0 0 16504 0 2 120312 0.0000166234
416264 "chr19:10334918:C>G" "S1PR2" "NM_004230:p.Asp222His" "NM_004230:c.664G>C" "EXON2" "Unknown significance" "rs747191535" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.896" "P" 0.007185 "N" 0.999996 "D" "5.81" "C" 0 10254 0 0 11530 0 0 8614 0 0 6476 0 0 66056 0 0 882 0 3 16502 0.000181796 3 120314 0.0000249348
416265 "chr19:10334921:C>T" "S1PR2" "NM_004230:p.Ala221Thr" "NM_004230:c.661G>A" "EXON2" "Likely benign" "rs544205933" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.071 "N" "0.545" "P" 0.051908 "N" 1 "N" "3.69" "C" 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 1 10250 0.000097561 0 11530 0 0 8612 0 0 6480 0 1 66056 0.0000151387 0 882 0 1 16502 0.0000605987 3 120312 0.0000249352
416266 "chr19:10334922:G>A" "S1PR2" "NM_004230:p.His220His" "NM_004230:c.660C>T" "EXON2" "Unknown significance" "rs776975550" "This variant is a VUS because it does not have enough information." 0 10252 0 1 11528 0.0000867453 2 8614 0.00023218 0 6490 0 0 66072 0 0 884 0 0 16502 0 3 120342 0.000024929
416267 "chr19:10334932:C>T" "S1PR2" "NM_004230:p.Arg217His" "NM_004230:c.650G>A" "EXON2" "Unknown significance" "rs138962414" "This variant is a VUS because it does not have enough information." 0.935 "N" "1.0" "D" 0.004923 "N" 0.999976 "D" "5.81" "C" 2 8600 0.000232558 0 4406 0 2 13006 0.000153775 0 10254 0 0 11534 0 0 8620 0 0 6486 0 3 66064 0.0000454105 0 882 0 1 16498 0.0000606134 4 120338 0.0000332397
416268 "chr19:10334933:G>A" "S1PR2" "NM_004230:p.Arg217Cys" "NM_004230:c.649C>T" "EXON2" "Unknown significance" "rs769736633" "This variant is a VUS because it does not have enough information." 1.048 "C" "1.0" "D" 0.004923 "N" 1 "D" "5.81" "C" 0 10260 0 0 11538 0 0 8622 0 0 6494 0 1 66086 0.0000151318 0 886 0 0 16498 0 1 120384 0.00000830675
416269 "chr19:10334939:C>T" "S1PR2" "NM_004230:p.Val215Met" "NM_004230:c.643G>A" "EXON2" "Unknown significance" "rs773248254" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.999" "D" 0.000426 "D" 0.989163 "D" "5.81" "C" 1 10278 0.0000972952 0 11542 0 0 8624 0 0 6504 0 1 66110 0.0000151263 0 886 0 0 16502 0 2 120446 0.000016605
416270 "chr19:10334940:G>A" "S1PR2" "NM_004230:p.Cys214Cys" "NM_004230:c.642C>T" "EXON2" "Benign" "rs79482117" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 8600 0 193 4406 0.0438039 193 13006 0.0148393 47 1322 0.0356 0 1006 0 5 694 0.0072 0 1008 0 0 978 0 52 5008 0.0103834 467 10282 0.0454192 19 11544 0.00164588 0 8626 0 0 6508 0 2 66108 0.0000302535 1 884 0.00113122 1 16502 0.0000605987 490 120454 0.00406794
416271 "chr19:10334950:C>T" "S1PR2" "NM_004230:p.Arg211His" "NM_004230:c.632G>A" "EXON2" "Likely benign" "rs141230424" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.065 "N" "0.087" "B" 0.000189 "N" 0.999848 "D" "4.78" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10278 0 0 11550 0 0 8626 0 0 6520 0 8 66166 0.000120908 0 884 0 2 16504 0.000121183 10 120528 0.0000829683
416272 "chr19:10334951:G>A" "S1PR2" "NM_004230:p.Arg211Cys" "NM_004230:c.631C>T" "EXON2" "Unknown significance" "rs146365556" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.998" "D" 0.000189 "D" 1 "D" "5.81" "C" 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876
416273 "chr19:10334954:C>T" "S1PR2" "NM_004230:p.Val210Met" "NM_004230:c.628G>A" "EXON2" "Likely benign" "rs773723376" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." -0.324 "N" "0.848" "P" 0.04053 "N" 0.974752 "D" "-2.61" "N" 1 10296 0.0000971251 0 11552 0 0 8626 0 0 6520 0 0 66172 0 0 886 0 2 16508 0.000121153 3 120560 0.0000248839
416274 "chr19:10334955:G>A" "S1PR2" "NM_004230:p.Tyr209Tyr" "NM_004230:c.627C>T" "EXON2" "Unknown significance" "rs145137562" "This variant is a VUS because it does not have enough information." 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 2 10298 0.000194212 0 11552 0 0 8626 0 0 6522 0 1 66168 0.000015113 0 886 0 0 16508 0 3 120560 0.0000248839
416275 "chr19:10334963:C>T" "S1PR2" "NM_004230:p.Ala207Thr" "NM_004230:c.619G>A" "EXON2" "Likely benign" "rs767044475" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 0.935 "N" "0.002" "B" 0.085872 "N" 0.9999 "N" "5.81" "C" 0 10302 0 0 11554 0 0 8624 0 0 6534 0 1 66186 0.0000151089 0 884 0 0 16506 0 1 120590 0.00000829256
416276 "chr19:10334966:C>G" "S1PR2" "NM_004230:p.Val206Leu" "NM_004230:c.616G>C" "EXON2" "Unknown significance" "rs201947575" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.258" "B" 0.000728 "D" 0.999995 "D" "5.81" "C" 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416277 "chr19:10334967:G>A" "S1PR2" "NM_004230:p.Ile205Ile" "NM_004230:c.615C>T" "EXON2" "Unknown significance" "rs200948899" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10306 0 1 11552 0.0000865651 0 8622 0 0 6536 0 1 66194 0.0000151071 0 888 0 0 16508 0 2 120606 0.0000165829
416278 "chr19:10334980:A>G" "S1PR2" "NM_004230:p.Ile201Thr" "NM_004230:c.602T>C" "EXON2" "Unknown significance" "rs757567998" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.999" "D" 0 "D" 1 "D" "5.66" "C" 0 10312 0 0 11554 0 0 8628 0 0 6544 0 2 66232 0.0000301969 0 888 0 0 16506 0 2 120664 0.000016575
416279 "chr19:10334985:G>A" "S1PR2" "NM_004230:p.Ser199Ser" "NM_004230:c.597C>T" "EXON2" "Unknown significance" "rs765620667" "This variant is a VUS because it does not have enough information." 0 10312 0 0 11554 0 0 8630 0 0 6550 0 0 66238 0 0 888 0 1 16510 0.0000605694 1 120682 0.00000828624
416280 "chr19:10335002:C>A" "S1PR2" "NM_004230:p.Val194Leu" "NM_004230:c.580G>T" "EXON2" "Unknown significance" "rs750859739" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.998" "D" 0.000001 "D" 0.999996 "D" "5.66" "C" 0 10312 0 0 11556 0 1 8632 0.000115848 0 6560 0 0 66234 0 0 892 0 0 16508 0 1 120694 0.00000828542
416281 "chr19:10335003:G>A" "S1PR2" "NM_004230:p.Cys193Cys" "NM_004230:c.579C>T" "EXON2" "Unknown significance" "rs758916106" "This variant is a VUS because it does not have enough information." 0 10306 0 0 11556 0 0 8632 0 0 6560 0 1 66234 0.000015098 0 892 0 0 16508 0 1 120688 0.00000828583
416282 "chr19:10335004:C>A" "S1PR2" "NM_004230:p.Cys193Phe" "NM_004230:c.578G>T" "EXON2" "Likely benign" "rs780666522" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.935 "N" "0.0" "B" 0.002227 "N" 0.999142 "D" "3.43" "C" 0 10308 0 0 11554 0 0 8632 0 0 6564 0 2 66230 0.0000301978 0 892 0 0 16510 0 2 120690 0.0000165714
416283 "chr19:10335008:G>A" "S1PR2" "NM_004230:p.Leu192Leu" "NM_004230:c.574C>T" "EXON2" "Unknown significance" "rs548754912" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 4 10302 0.000388274 0 11558 0 0 8634 0 0 6562 0 0 66218 0 0 890 0 0 16510 0 4 120674 0.0000331472
416284 "chr19:10335011:C>A" "S1PR2" "NM_004230:p.Val191Leu" "NM_004230:c.571G>T" "EXON2" "Unknown significance" "rs755137611" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.122" "B" 0.000065 "D" 0.998262 "D" "5.66" "C"
416285 "chr19:10335012:A>G" "S1PR2" "NM_004230:p.Tyr190Tyr" "NM_004230:c.570T>C" "EXON2" "Unknown significance" "rs142570783" "This variant is a VUS because it does not have enough information." 3 8600 0.000348837 1 4406 0.000226963 4 13006 0.00030755 1 10304 0.0000970497 0 11556 0 0 8634 0 0 6566 0 7 66216 0.000105715 0 890 0 0 16508 0 8 120674 0.0000662943
416286 "chr19:10335017:G>C" "S1PR2" "NM_004230:p.His189Asp" "NM_004230:c.565C>G" "EXON2" "Likely benign" "rs150504911" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." 0.1 "N" "0.0" "B" 0.305469 "N" 1 "N" "-1.34" "N" 3 8600 0.000348837 0 4406 0 3 13006 0.000230663 0 10306 0 0 11552 0 0 8630 0 0 6568 0 11 66196 0.000166173 0 890 0 0 16510 0 11 120652 0.0000911713
416287 "chr19:10335022:G>A" "S1PR2" "NM_004230:p.Ala187Val" "NM_004230:c.560C>T" "EXON2" "Unknown significance" "rs528715848" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.193" "B" 0.001607 "N" 0.997649 "D" "5.66" "C"
416288 "chr19:10335023:C>T" "S1PR2" "NM_004230:p.Ala187Thr" "NM_004230:c.559G>A" "EXON2" "Likely benign" "rs375315200" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.065 "N" "0.004" "B" 0.001607 "N" 0.802601 "D" "3.5" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876
416289 "chr19:10335024:G>A" "S1PR2" "NM_004230:p.Tyr186Tyr" "NM_004230:c.558C>T" "EXON2" "Unknown significance" "rs199954220" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10306 0 0 11546 0 8 8626 0.000927429 0 6570 0 5 66186 0.0000755447 0 890 0 0 16510 0 13 120634 0.000107764
416290 "chr19:10335041:T>C" "S1PR2" "NM_004230:p.Thr181Ala" "NM_004230:c.541A>G" "EXON2" "Unknown significance" "rs773156107" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.122" "B" 0.000042 "D" 0.99875 "D" "5.66" "C" 0 10292 0 0 11542 0 0 8614 0 0 6560 0 0 65990 0 0 890 0 1 16506 0.000060584 1 120394 0.00000830606
416291 "chr19:10335053:C>T" "S1PR2" "NM_004230:p.Glu177Lys" "NM_004230:c.529G>A" "EXON2" "Unknown significance" "rs139476990" "This variant is a VUS because it does not have enough information." 0.892 "N" "0.729" "P" 0.149061 "N" 0.998016 "D" "5.57" "C" 0 10278 0 0 11544 0 0 8610 0 0 6562 0 3 65894 0.0000455277 0 890 0 0 16506 0 3 120284 0.000024941
416292 "chr19:10335054:G>A" "S1PR2" "NM_004230:p.Leu176Leu" "NM_004230:c.528C>T" "EXON2" "Unknown significance" "rs770771070" "This variant is a VUS because it does not have enough information." 0 10270 0 0 11542 0 1 8610 0.000116144 0 6562 0 0 65904 0 0 892 0 1 16506 0.000060584 2 120286 0.000016627
416293 "chr19:10335070:T>C" "S1PR2" "NM_004230:p.Asn171Ser" "NM_004230:c.512A>G" "EXON2" "Unknown significance" "rs774388647" "This variant is a VUS because it does not have enough information." 1.011 "C" "1.0" "D" 0 "D" 0.999999 "D" "5.46" "C" 0 10280 0 0 11542 0 0 8608 0 0 6566 0 0 65886 0 0 894 0 1 16500 0.0000606061 1 120276 0.00000831421
416294 "chr19:10335083:T>C" "S1PR2" "NM_004230:p.Ile167Val" "NM_004230:c.499A>G" "EXON2" "Unknown significance" "rs758945809" "This variant is a VUS because it does not have enough information." 1.011 "C" "0.37" "B" 0.000006 "N" 0.99993 "D" "4.44" "C" 0 10278 0 0 11546 0 0 8600 0 19 6578 0.00288842 2 65876 0.0000303601 1 896 0.00111607 0 16502 0 22 120276 0.000182913
416295 "chr19:10335087:C>G" "S1PR2" "NM_004230:p.Leu165Leu" "NM_004230:c.495G>C" "EXON2" "Unknown significance" "rs746050596" "This variant is a VUS because it does not have enough information."
416296 "chr19:10335095:C>G" "S1PR2" "NM_004230:p.Gly163Arg" "NM_004230:c.487G>C" "EXON2" "Unknown significance" "rs767074437" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0 "D" 1 "D" "5.46" "C" 0 10276 0 0 11544 0 0 8594 0 0 6578 0 1 65836 0.0000151893 0 894 0 0 16502 0 1 120224 0.00000831781
416297 "chr19:10335096:G>A" "S1PR2" "NM_004230:p.Leu162Leu" "NM_004230:c.486C>T" "EXON2" "Unknown significance" "rs375693128" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 1 10274 0.0000973331 0 11544 0 0 8598 0 0 6580 0 1 65846 0.000015187 0 894 0 1 16502 0.0000605987 3 120238 0.0000249505
416298 "chr19:10335102:C>T" "S1PR2" "NM_004230:p.Leu160Leu" "NM_004230:c.480G>A" "EXON2" "Unknown significance" "rs144510483" "This variant is a VUS because it does not have enough information." 0 8600 0 16 4406 0.00363141 16 13006 0.0012302 5 1322 0.0038 0 1006 0 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403 41 10278 0.0039891 4 11544 0.0003465 0 8602 0 0 6580 0 0 65856 0 0 896 0 0 16498 0 45 120254 0.000374208
416299 "chr19:10335102:C>G" "S1PR2" "NM_004230:p.Leu160Leu" "NM_004230:c.480G>C" "EXON2" "Unknown significance" "rs144510483" "This variant is a VUS because it does not have enough information." 0 10278 0 0 11544 0 0 8602 0 0 6580 0 0 65856 0 0 896 0 1 16498 0.0000606134 1 120254 0.00000831573
416300 "chr19:10335105:C>T" "S1PR2" "NM_004230:p.Ser159Ser" "NM_004230:c.477G>A" "EXON2" "Benign" "rs200965528" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 6 978 0.0061 7 5008 0.00139776 11 10270 0.00107108 1 11544 0.0000866251 1 8604 0.000116225 0 6580 0 2 65844 0.0000303748 1 896 0.00111607 162 16498 0.00981937 178 120236 0.00148042
416301 "chr19:10335106:G>A" "S1PR2" "NM_004230:p.Ser159Leu" "NM_004230:c.476C>T" "EXON2" "Unknown significance" "rs758826475" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.996" "D" 0.000021 "D" 1 "D" "5.46" "C" 1 10272 0.000097352 0 11546 0 0 8604 0 0 6582 0 0 65852 0 0 896 0 0 16500 0 1 120252 0.00000831587
416302 "chr19:10335108:G>A" "S1PR2" "NM_004230:p.Ile158Ile" "NM_004230:c.474C>T" "EXON2" "Unknown significance" "rs766761324" "This variant is a VUS because it does not have enough information." 0 10270 0 1 11546 0.0000866101 0 8604 0 0 6582 0 0 65858 0 0 896 0 0 16498 0 1 120254 0.00000831573
416303 "chr19:10335109:A>G" "S1PR2" "NM_004230:p.Ile158Thr" "NM_004230:c.473T>C" "EXON2" "Unknown significance" "rs752132394" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.028" "B" 0.002931 "N" 0.997672 "D" "5.46" "C" 0 10276 0 0 11546 0 0 8604 0 0 6582 0 0 65852 0 0 896 0 1 16500 0.0000606061 1 120256 0.00000831559
416304 "chr19:10335117:C>T" "S1PR2" "NM_004230:p.Ser155Ser" "NM_004230:c.465G>A" "EXON2" "Unknown significance" "rs571515815" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10278 0 1 11542 0.0000866401 2 8606 0.000232396 0 6590 0 0 65862 0 0 894 0 0 16502 0 3 120274 0.000024943
416305 "chr19:10335118:G>A" "S1PR2" "NM_004230:p.Ser155Leu" "NM_004230:c.464C>T" "EXON2" "Unknown significance" "rs781340607" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.859" "P" 0.000011 "D" 0.999608 "D" "4.39" "C" 1 10278 0.0000972952 0 11542 0 0 8608 0 0 6590 0 0 65858 0 0 894 0 0 16502 0 1 120272 0.00000831449
416306 "chr19:10335121:G>A" "S1PR2" "NM_004230:p.Ala154Val" "NM_004230:c.461C>T" "EXON2" "Unknown significance" "rs748326799" "This variant is a VUS because it does not have enough information." 0.998 "C" "1.0" "D" 0 "D" 1 "D" "5.46" "C" 0 10284 0 0 11542 0 0 8608 0 0 6590 0 1 65862 0.0000151833 0 894 0 0 16498 0 1 120278 0.00000831407
416307 "chr19:10335126:G>A" "S1PR2" "NM_004230:p.Ile152Ile" "NM_004230:c.456C>T" "EXON2" "Unknown significance" "rs539019136" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 1 10286 0.0000972195 0 11540 0 2 8606 0.000232396 0 6588 0 1 65860 0.0000151837 0 894 0 0 16504 0 4 120278 0.0000332563
416308 "chr19:10335127:A>G" "S1PR2" "NM_004230:p.Ile152Thr" "NM_004230:c.455T>C" "EXON2" "Unknown significance" "rs778208496" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.994" "D" 0.000265 "D" 1 "D" "5.46" "C" 0 10286 0 0 11542 0 0 8606 0 0 6592 0 1 65864 0.0000151828 0 894 0 0 16504 0 1 120288 0.00000831338
416309 "chr19:10335129:G>A" "S1PR2" "NM_004230:p.Leu151Leu" "NM_004230:c.453C>T" "EXON2" "Unknown significance" "rs749062515" "This variant is a VUS because it does not have enough information." 0 10282 0 0 11542 0 0 8606 0 0 6590 0 1 65862 0.0000151833 0 894 0 0 16504 0 1 120280 0.00000831393
416310 "chr19:10335133:A>T" "S1PR2" "NM_004230:p.Leu150Gln" "NM_004230:c.449T>A" "EXON2" "Unknown significance" "rs770806486" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.864" "P" 0.007584 "N" 0.999686 "D" "4.38" "C" 0 10284 0 0 11542 0 0 8608 0 0 6588 0 1 65866 0.0000151823 0 894 0 0 16504 0 1 120286 0.00000831352
416311 "chr19:10335142:C>A" "S1PR2" "NM_004230:p.Arg147Leu" "NM_004230:c.440G>T" "EXON2" "Unknown significance" "rs774105619" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0 "D" 1 "D" "5.46" "C" 0 10284 0 1 11540 0.0000866551 0 8604 0 0 6582 0 0 65828 0 0 892 0 0 16502 0 1 120232 0.00000831725
416312 "chr19:10335142:C>T" "S1PR2" "NM_004230:p.Arg147His" "NM_004230:c.440G>A" "EXON2" "Unknown significance" "rs774105619" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0 "D" 1 "D" "5.46" "C" 0 10284 0 0 11540 0 1 8604 0.000116225 0 6582 0 0 65828 0 0 892 0 0 16502 0 1 120232 0.00000831725
416313 "chr19:10335143:G>A" "S1PR2" "NM_004230:p.Arg147Cys" "NM_004230:c.439C>T" "EXON2" "Unknown significance" "rs771416712" "This variant is a VUS because it does not have enough information." 0.998 "C" "1.0" "D" 0 "D" 1 "D" "5.46" "C" 0 10280 0 0 11542 0 0 8602 0 0 6584 0 1 65816 0.0000151939 0 894 0 0 16504 0 1 120222 0.00000831795
416314 "chr19:10335153:G>A" "S1PR2" "NM_004230:p.Asp143Asp" "NM_004230:c.429C>T" "EXON2" "Unknown significance" "rs774990809" "This variant is a VUS because it does not have enough information." 0 10276 0 1 11538 0.0000866701 0 8600 0 0 6582 0 0 65764 0 0 894 0 0 16506 0 1 120160 0.00000832224
416315 "chr19:10335155:C>T" "S1PR2" "NM_004230:p.Asp143Asn" "NM_004230:c.427G>A" "EXON2" "Unknown significance" "rs760232470" "This variant is a VUS because it does not have enough information." 0.892 "N" "0.811" "P" 0.018772 "U" 0.995674 "D" "5.46" "C" 0 10276 0 1 11536 0.0000866852 0 8600 0 0 6580 0 0 65742 0 0 892 0 0 16504 0 1 120130 0.00000832432
416316 "chr19:10335156:G>A" "S1PR2" "NM_004230:p.Ser142Ser" "NM_004230:c.426C>T" "EXON2" "Unknown significance" "rs768290233" "This variant is a VUS because it does not have enough information." 1 10278 0.0000972952 0 11536 0 0 8600 0 0 6582 0 1 65732 0.0000152133 0 892 0 1 16504 0.0000605914 3 120124 0.0000249742
416317 "chr19:10335171:G>A" "S1PR2" "NM_004230:p.Val137Val" "NM_004230:c.411C>T" "EXON2" "Unknown significance" "rs147860417" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10272 0 0 11534 0 0 8604 0 0 6574 0 3 65720 0.0000456482 0 892 0 0 16502 0 3 120098 0.0000249796
416318 "chr19:10335176:->TGGCAATGGCCACGTGGCGCTCAA" "S1PR2" "NM_004230:c.406_407insTTGAGCGCCACGTGGCCATTGCCA" "EXON2" "Unknown significance" "rs750023590" "This variant is a VUS because it does not have enough information."
416319 "chr19:10335186:C>T" "S1PR2" "NM_004230:p.Val132Val" "NM_004230:c.396G>A" "EXON2" "Unknown significance" "rs763257359" "This variant is a VUS because it does not have enough information." 1 10232 0.0000977326 0 11530 0 0 8604 0 0 6568 0 0 65672 0 0 892 0 0 16504 0 1 120002 0.00000833319
416320 "chr19:10335187:A>G" "S1PR2" "NM_004230:p.Val132Ala" "NM_004230:c.395T>C" "EXON2" "Unknown significance" "rs766800341" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.961" "D" 0.000357 "D" 0.999937 "D" "5.46" "C" 0 10228 0 0 11530 0 0 8602 0 0 6568 0 1 65670 0.0000152277 0 892 0 0 16504 0 1 119994 0.00000833375
416321 "chr19:10335189:G>A" "S1PR2" "NM_004230:p.His131His" "NM_004230:c.393C>T" "EXON2" "Unknown significance" "rs554534393" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10230 0 0 11530 0 0 8602 0 0 6564 0 1 65676 0.0000152263 0 892 0 0 16502 0 1 119996 0.00000833361
416322 "chr19:10335191:G>A" "S1PR2" "NM_004230:p.His131Tyr" "NM_004230:c.391C>T" "EXON2" "Unknown significance" "rs760106219" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.0" "B" 0.020893 "N" 0.525576 "D" "5.46" "C" 0 10222 0 0 11528 0 0 8604 0 0 6558 0 1 65620 0.0000152393 0 892 0 0 16502 0 1 119926 0.00000833848
416323 "chr19:10335194:G>A" "S1PR2" "NM_004230:p.Arg130Cys" "NM_004230:c.388C>T" "EXON2" "Unknown significance" "rs200439929" "This variant is a VUS because it does not have enough information." -0.428 "N" "1.0" "D" 0 "D" 1 "D" "3.25" "C" 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 2 10224 0.000195618 0 11526 0 0 8598 0 0 6554 0 0 65610 0 0 892 0 0 16502 0 2 119906 0.0000166797
416324 "chr19:10335203:C>T" "S1PR2" "NM_004230:p.Ala127Thr" "NM_004230:c.379G>A" "EXON2" "Unknown significance" "rs752820109" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0 "D" 1 "D" "5.46" "C" 0 10220 0 0 11528 0 0 8602 0 0 6546 0 1 65604 0.000015243 0 890 0 1 16500 0.0000606061 2 119890 0.000016682
416325 "chr19:10335204:G>A" "S1PR2" "NM_004230:p.Ile126Ile" "NM_004230:c.378C>T" "EXON2" "Unknown significance" "rs756303739" "This variant is a VUS because it does not have enough information." 0 10230 0 0 11522 0 0 8598 0 0 6552 0 1 65610 0.0000152416 0 892 0 0 16496 0 1 119900 0.00000834028
416326 "chr19:10335207:G>A" "S1PR2" "NM_004230:p.Ala125Ala" "NM_004230:c.375C>T" "EXON2" "Unknown significance" "rs778120707" "This variant is a VUS because it does not have enough information." 0 10222 0 0 11526 0 0 8598 0 0 6554 0 1 65618 0.0000152397 0 892 0 0 16504 0 1 119914 0.00000833931
416327 "chr19:10335231:C>G" "S1PR2" "NM_004230:p.Ser117Ser" "NM_004230:c.351G>C" "EXON2" "Unknown significance" "rs754134254" "This variant is a VUS because it does not have enough information." 0 10218 0 0 11526 0 0 8590 0 0 6536 0 0 65522 0 0 890 0 1 16500 0.0000606061 1 119782 0.0000083485
416328 "chr19:10335231:C>T" "S1PR2" "NM_004230:p.Ser117Ser" "NM_004230:c.351G>A" "EXON2" "Unknown significance" "rs754134254" "This variant is a VUS because it does not have enough information." 0 10218 0 0 11526 0 0 8590 0 0 6536 0 0 65522 0 0 890 0 1 16500 0.0000606061 1 119782 0.0000083485
416329 "chr19:10335237:C>T" "S1PR2" "NM_004230:p.Thr115Thr" "NM_004230:c.345G>A" "EXON2" "Unknown significance" "rs778774106" "This variant is a VUS because it does not have enough information." 0 10202 0 1 11522 0.0000867905 0 8588 0 0 6528 0 0 65556 0 0 892 0 0 16496 0 1 119784 0.00000834836
416330 "chr19:10335249:A>G" "S1PR2" "NM_004230:p.Ser111Ser" "NM_004230:c.333T>C" "EXON2" "Unknown significance" "rs745577083" "This variant is a VUS because it does not have enough information." 0 10220 0 0 11520 0 0 8590 0 24 6544 0.00366748 3 65582 0.0000457443 1 890 0.0011236 0 16500 0 28 119846 0.000233633
416331 "chr19:10335254:C>T" "S1PR2" "NM_004230:p.Gly110Ser" "NM_004230:c.328G>A" "EXON2" "Unknown significance" "rs772030354" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0 "D" 1 "D" "5.46" "C" 0 10208 0 0 11518 0 0 8590 0 0 6544 0 1 65596 0.0000152448 0 890 0 0 16500 0 1 119846 0.00000834404
416332 "chr19:10335273:C>A" "S1PR2" "NM_004230:p.Val103Val" "NM_004230:c.309G>T" "EXON2" "Unknown significance" "rs780028833" "This variant is a VUS because it does not have enough information." 0 10208 0 1 11514 0.0000868508 0 8580 0 0 6542 0 0 65642 0 0 886 0 0 16498 0 1 119870 0.00000834237
416333 "chr19:10335273:C>T" "S1PR2" "NM_004230:p.Val103Val" "NM_004230:c.309G>A" "EXON2" "Unknown significance" "rs780028833" "This variant is a VUS because it does not have enough information." 1 10208 0.0000979624 0 11514 0 0 8580 0 0 6542 0 0 65642 0 0 886 0 0 16498 0 1 119870 0.00000834237
416334 "chr19:10335279:C>T" "S1PR2" "NM_004230:p.Thr101Thr" "NM_004230:c.303G>A" "EXON2" "Unknown significance" "rs372171605" "This variant is a VUS because it does not have enough information." 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876 1 10210 0.0000979432 0 11514 0 0 8580 0 0 6544 0 0 65668 0 0 888 0 0 16498 0 1 119902 0.00000834014
416335 "chr19:10335280:G>A" "S1PR2" "NM_004230:p.Thr101Met" "NM_004230:c.302C>T" "EXON2" "Unknown significance" "rs776229108" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.981" "D" 0.002339 "N" 0.999855 "D" "5.46" "C" 0 10210 0 0 11516 0 3 8578 0.000349732 0 6548 0 0 65658 0 0 888 0 0 16498 0 3 119896 0.0000250217
416336 "chr19:10335285:C>T" "S1PR2" "NM_004230:p.Arg99Arg" "NM_004230:c.297G>A" "EXON2" "Unknown significance" "rs761534939" "This variant is a VUS because it does not have enough information." 0 10210 0 0 11516 0 1 8580 0.00011655 0 6550 0 0 65700 0 0 890 0 0 16498 0 1 119944 0.00000833722
416337 "chr19:10335291:C>T" "S1PR2" "NM_004230:p.Thr97Thr" "NM_004230:c.291G>A" "EXON2" "Unknown significance" "rs768094283" "This variant is a VUS because it does not have enough information." 0 10224 0 0 11510 0 0 8578 0 0 6548 0 1 65710 0.0000152184 0 890 0 0 16492 0 1 119952 0.00000833667
416338 "chr19:10335296:CAGAGC>-" "S1PR2" "NM_004230:c.286_293delGCTCTG" "EXON2" "Unknown significance" "rs755623288" "This variant is a VUS because it does not have enough information."
416339 "chr19:10335308:G>A" "S1PR2" "NM_004230:p.Leu92Phe" "NM_004230:c.274C>T" "EXON2" "Unknown significance" "rs774768484" "This variant is a VUS because it does not have enough information." 0.998 "C" "1.0" "D" 0.000002 "D" 1 "D" "5.46" "C" 1 10220 0.0000978474 0 11520 0 0 8586 0 0 6560 0 0 65722 0 0 892 0 0 16504 0 1 120004 0.00000833306
416340 "chr19:10335323:C>A" "S1PR2" "NM_004230:p.Val87Leu" "NM_004230:c.259G>T" "EXON2" "Likely benign" "rs759886451" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." -0.389 "N" "0.01" "B" 0.05915 "N" 0.891827 "D" "-2.75" "N"
416341 "chr19:10335323:C>T" "S1PR2" "NM_004230:p.Val87Ile" "NM_004230:c.259G>A" "EXON2" "Likely benign" "rs759886451" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." -0.389 "N" "0.0" "B" 0.05915 "N" 0.700701 "D" "-2.75" "N"
416342 "chr19:10335324:G>A" "S1PR2" "NM_004230:p.Phe86Phe" "NM_004230:c.258C>T" "EXON2" "Unknown significance" "rs141451923" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4404 0 1 13004 0.0000768994 0 9950 0 0 11494 0 0 8572 0 0 6550 0 6 65024 0.0000922736 0 882 0 0 16506 0 6 118978 0.0000504295
416343 "chr19:10335332:C>T" "S1PR2" "NM_004230:p.Val84Met" "NM_004230:c.250G>A" "EXON2" "Unknown significance" "rs369608498" "This variant is a VUS because it does not have enough information." -1.003 "N" "0.998" "D" 0.048221 "N" 0.780551 "D" "4.23" "C" 0 10074 0 1 11504 0.0000869263 0 8582 0 1 6580 0.000151976 0 65448 0 0 888 0 0 16508 0 2 119584 0.0000167246
416344 "chr19:10335333:G>A" "S1PR2" "NM_004230:p.Gly83Gly" "NM_004230:c.249C>T" "EXON2" "Benign" "rs73922357" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 8598 0 49 4406 0.0111212 49 13004 0.00376807 13 1322 0.0098 0 1006 0 0 694 0 0 1008 0 0 978 0 13 5008 0.00259585 108 9324 0.011583 5 11434 0.000437292 0 8522 0 0 6124 0 2 63294 0.0000315986 0 844 0 1 16504 0.0000605914 116 116046 0.000999604
416345 "chr19:10335347:C>T" "S1PR2" "NM_004230:p.Asp79Asn" "NM_004230:c.235G>A" "EXON2" "Unknown significance" "rs754046468" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0 "D" 1 "D" "5.26" "C" 0 10226 0 1 11534 0.0000867002 0 8612 0 0 6598 0 0 65858 0 0 898 0 0 16510 0 1 120236 0.00000831698
416346 "chr19:10335348:G>A" "S1PR2" "NM_004230:p.Ser78Ser" "NM_004230:c.234C>T" "EXON2" "Unknown significance" "rs757513633" "This variant is a VUS because it does not have enough information."
416347 "chr19:10335351:G>T" "S1PR2" "NM_004230:p.Ala77Ala" "NM_004230:c.231C>A" "EXON2" "Unknown significance" "rs750986918" "This variant is a VUS because it does not have enough information."
416348 "chr19:10335352:G>A" "S1PR2" "NM_004230:p.Ala77Val" "NM_004230:c.230C>T" "EXON2" "Unknown significance" "rs779058016" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.704" "P" 0.002014 "N" 0.981468 "D" "4.05" "C" 0 10240 0 5 11542 0.0004332 0 8612 0 0 6606 0 0 65956 0 0 898 0 0 16512 0 5 120366 0.00004154
416349 "chr19:10335353:C>T" "S1PR2" "NM_004230:p.Ala77Thr" "NM_004230:c.229G>A" "EXON2" "Unknown significance" "rs750224099" "This variant is a VUS because it does not have enough information." 0.892 "N" "0.992" "D" 0.002014 "N" 0.974907 "D" "3.99" "C" 0 10248 0 0 11546 0 0 8614 0 0 6604 0 4 65974 0.0000606299 0 898 0 0 16512 0 4 120396 0.0000332237
416350 "chr19:10335354:G>A" "S1PR2" "NM_004230:p.Ala76Ala" "NM_004230:c.228C>T" "EXON2" "Unknown significance" "rs201361490" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 0 10268 0 9 11546 0.000779491 0 8612 0 1 6606 0.000151378 0 66004 0 0 898 0 1 16512 0.000060562 11 120446 0.0000913272
416351 "chr19:10335360:G>C" "S1PR2" "NM_004230:p.Asn74Lys" "NM_004230:c.222C>G" "EXON2" "Unknown significance" "rs779941001" "This variant is a VUS because it does not have enough information." 0.998 "C" "1.0" "D" 0 "D" 0.999999 "D" "2.95" "C" 0 10296 0 0 11548 0 0 8618 0 0 6610 0 2 66114 0.0000302508 0 900 0 0 16512 0 2 120598 0.000016584
416352 "chr19:10335365:C>T" "S1PR2" "NM_004230:p.Gly73Ser" "NM_004230:c.217G>A" "EXON2" "Unknown significance" "rs756238075" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0 "D" 1 "D" "5.09" "C"
416353 "chr19:10335366:C>T" "S1PR2" "NM_004230:p.Leu72Leu" "NM_004230:c.216G>A" "EXON2" "Unknown significance" "rs746982563" "This variant is a VUS because it does not have enough information." 0 10312 0 0 11558 0 0 8624 0 0 6610 0 1 66202 0.0000151053 0 902 0 0 16512 0 1 120720 0.00000828363
416354 "chr19:10335375:G>A" "S1PR2" "NM_004230:p.Tyr69Tyr" "NM_004230:c.207C>T" "EXON2" "Unknown significance" "rs768089970" "This variant is a VUS because it does not have enough information." 0 10344 0 0 11570 0 0 8628 0 0 6614 0 1 66314 0.0000150798 0 904 0 0 16512 0 1 120886 0.00000827226
416355 "chr19:10335377:A>G" "S1PR2" "NM_004230:p.Tyr69His" "NM_004230:c.205T>C" "EXON2" "Unknown significance" "rs780697765" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.999" "D" 0.000035 "D" 0.999957 "D" "5.09" "C" 0 10346 0 0 11570 0 0 8628 0 0 6614 0 0 66336 0 0 904 0 1 16512 0.000060562 1 120910 0.00000827061
416356 "chr19:10335379:A>G" "S1PR2" "NM_004230:p.Met68Thr" "NM_004230:c.203T>C" "EXON2" "Unknown significance" "rs747674218" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.659" "P" 0 "D" 0.999997 "D" "5.09" "C" 0 10350 0 0 11570 0 0 8628 0 0 6614 0 1 66354 0.0000150707 0 904 0 0 16512 0 1 120932 0.00000826911
416357 "chr19:10335383:C>G" "S1PR2" "NM_004230:p.Ala67Pro" "NM_004230:c.199G>C" "EXON2" "Unknown significance" "rs769482969" "This variant is a VUS because it does not have enough information." 0.892 "N" "0.64" "P" 0 "D" 1 "D" "5.09" "C" 0 10350 0 0 11572 0 0 8628 0 0 6614 0 0 66370 0 0 904 0 1 16510 0.0000605694 1 120948 0.00000826802
416358 "chr19:10335385:G>A" "S1PR2" "NM_004230:p.Ser66Leu" "NM_004230:c.197C>T" "EXON2" "Unknown significance" "rs369436343" "This variant is a VUS because it does not have enough information." 0.998 "C" "1.0" "D" 0.000001 "D" 1 "D" "5.09" "C" 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876 1 10350 0.0000966184 1 11572 0.0000864155 0 8630 0 0 6614 0 1 66384 0.0000150639 0 904 0 4 16512 0.000242248 7 120966 0.0000578675
416359 "chr19:10335394:T>C" "S1PR2" "NM_004230:p.Lys63Arg" "NM_004230:c.188A>G" "EXON2" "Unknown significance" "rs746222276" "This variant is a VUS because it does not have enough information." 1.011 "C" "0.467" "P" 0.00002 "D" 0.999283 "D" "4.07" "C" 0 10358 0 0 11574 0 0 8632 0 0 6614 0 1 66452 0.0000150485 0 904 0 0 16512 0 1 121046 0.00000826132
416360 "chr19:10335403:C>T" "S1PR2" "NM_004230:p.Arg60Gln" "NM_004230:c.179G>A" "EXON2" "Unknown significance" "rs3745268" "This variant is a VUS because it does not have enough information." 0.892 "N" "1.0" "D" 0.000001 "D" 1 "D" "5.09" "C" 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361 0 10368 0 0 11574 0 23 8636 0.00266327 0 6614 0 5 66472 0.0000752196 0 904 0 0 16512 0 28 121080 0.000231252
416361 "chr19:10335404:G>A" "S1PR2" "NM_004230:p.Arg60Stop" "NM_004230:c.178C>T" "EXON2" "Unknown significance" "rs776098609" "This variant is a VUS because it does not have enough information." 0.045 "N" 0.000001 "D" 1 "D" "4.03" "C" 0 10366 0 0 11574 0 0 8636 0 0 6614 0 2 66482 0.0000300833 0 904 0 0 16512 0 2 121088 0.0000165169
416362 "chr19:10335404:G>C" "S1PR2" "NM_004230:p.Arg60Gly" "NM_004230:c.178C>G" "EXON2" "Unknown significance" "rs776098609" "This variant is a VUS because it does not have enough information." 0.045 "N" "1.0" "D" 0.000001 "D" 0.999995 "D" "4.03" "C" 0 10366 0 0 11574 0 0 8636 0 0 6614 0 1 66482 0.0000150417 0 904 0 0 16512 0 1 121088 0.00000825846
416363 "chr19:10335411:C>T" "S1PR2" "NM_004230:p.Ala57Ala" "NM_004230:c.171G>A" "EXON2" "Unknown significance" "rs764211253" "This variant is a VUS because it does not have enough information." 0 10372 0 0 11574 0 0 8640 0 0 6614 0 1 66510 0.0000150353 0 904 0 0 16512 0 1 121126 0.00000825587
416364 "chr19:10335412:G>T" "S1PR2" "NM_004230:p.Ala57Glu" "NM_004230:c.170C>A" "EXON2" "Unknown significance" "rs776758449" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.997" "D" 0.000026 "D" 0.999999 "D" "5.09" "C" 0 10376 0 0 11574 0 0 8640 0 0 6614 0 1 66506 0.0000150362 0 904 0 0 16510 0 1 121124 0.000008256
416365 "chr19:10335420:C>G" "S1PR2" "NM_004230:p.Val54Val" "NM_004230:c.162G>C" "EXON2" "Unknown significance" "rs761860830" "This variant is a VUS because it does not have enough information." 1 10384 0.000096302 0 11574 0 0 8642 0 0 6614 0 0 66532 0 0 906 0 0 16512 0 1 121164 0.00000825328
416366 "chr19:10335429:G>A" "S1PR2" "NM_004230:p.Asn51Asn" "NM_004230:c.153C>T" "EXON2" "Unknown significance" "rs111877927" "This variant is a VUS because it does not have enough information."
416367 "chr19:10335442:A>G" "S1PR2" "NM_004230:p.Ile47Thr" "NM_004230:c.140T>C" "EXON2" "Unknown significance" "rs765465116" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.91" "P" 0.000012 "D" 0.999999 "D" "4.01" "C" 1 10390 0.0000962464 1 11574 0.0000864006 0 8648 0 0 6614 0 1 66610 0.0000150128 0 908 0 0 16512 0 3 121256 0.000024741
416368 "chr19:10335446:C>T" "S1PR2" "NM_004230:p.Ala46Thr" "NM_004230:c.136G>A" "EXON2" "Likely benign" "rs750656745" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.042 "N" "0.004" "B" 0.003625 "N" 0.540846 "D" "2.96" "C" 0 10390 0 0 11574 0 0 8648 0 0 6614 0 2 66612 0.0000300246 0 908 0 0 16512 0 2 121258 0.0000164938
416369 "chr19:10335447:G>A" "S1PR2" "NM_004230:p.Cys45Cys" "NM_004230:c.135C>T" "EXON2" "Unknown significance" "rs758137994" "This variant is a VUS because it does not have enough information." 1 10392 0.0000962279 0 11574 0 0 8648 0 0 6614 0 0 66616 0 0 908 0 0 16512 0 1 121264 0.00000824647
416370 "chr19:10335461:C>T" "S1PR2" "NM_004230:p.Val41Ile" "NM_004230:c.121G>A" "EXON2" "Likely benign" "rs766168572" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." 0.086 "N" "0.0" "B" 0.161634 "N" 0.947381 "N" "-5.16" "N" 0 10392 0 0 11576 0 0 8646 0 0 6614 0 1 66628 0.0000150087 0 908 0 0 16512 0 1 121276 0.00000824565
416371 "chr19:10335462:G>A" "S1PR2" "NM_004230:p.Ile40Ile" "NM_004230:c.120C>T" "EXON2" "Unknown significance" "rs145014162" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10392 0 0 11576 0 1 8644 0.000115687 0 6614 0 1 66626 0.0000150092 0 908 0 0 16512 0 2 121272 0.0000164919
416372 "chr19:10335464:T>C" "S1PR2" "NM_004230:p.Ile40Val" "NM_004230:c.118A>G" "EXON2" "Unknown significance" "rs754899840" "This variant is a VUS because it does not have enough information." 1.011 "C" "0.688" "P" 0.00031 "D" 0.694166 "D" "5.09" "C" 0 10392 0 0 11576 0 0 8646 0 0 6614 0 1 66630 0.0000150083 0 908 0 0 16512 0 1 121278 0.00000824552
416373 "chr19:10335469:G>C" "S1PR2" "NM_004230:p.Ala38Gly" "NM_004230:c.113C>G" "EXON2" "Likely benign" "rs776432035" "Pathogenicity is based on prediction data only. 0 out of 5 predictions were pathogenic." 0.1 "N" "0.1" "B" 0.301008 "N" 1 "N" "-0.26" "N"
416374 "chr19:10335471:C>T" "S1PR2" "NM_004230:p.Ser37Ser" "NM_004230:c.111G>A" "EXON2" "Unknown significance" "rs781176630" "This variant is a VUS because it does not have enough information." 1 10394 0.0000962094 0 11576 0 0 8646 0 0 6614 0 0 66626 0 0 908 0 3 16512 0.000181686 4 121276 0.0000329826
416375 "chr19:10335475:G>A" "S1PR2" "NM_004230:p.Ala36Val" "NM_004230:c.107C>T" "EXON2" "Unknown significance" "rs747663144" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.085" "B" 0.004871 "N" 0.981645 "D" "4.04" "C" 0 10394 0 0 11574 0 0 8644 0 0 6614 0 3 66628 0.0000450261 0 908 0 0 16512 0 3 121274 0.0000247374
416376 "chr19:10335485:G>A" "S1PR2" "NM_004230:p.Arg33Cys" "NM_004230:c.97C>T" "EXON2" "Unknown significance" "rs755629087" "This variant is a VUS because it does not have enough information." 0.998 "C" "1.0" "D" 0.001106 "N" 1 "D" "5.09" "C" 0 10396 0 0 11574 0 0 8644 0 1 6614 0.000151194 0 66608 0 0 908 0 0 16512 0 1 121256 0.00000824701
416377 "chr19:10335486:G>T" "S1PR2" "NM_004230:p.Ser32Ser" "NM_004230:c.96C>A" "EXON2" "Unknown significance" "rs777435510" "This variant is a VUS because it does not have enough information." 0 10396 0 0 11574 0 0 8644 0 0 6614 0 0 66610 0 0 908 0 1 16512 0.000060562 1 121258 0.00000824688
416378 "chr19:10335487:G>A" "S1PR2" "NM_004230:p.Ser32Phe" "NM_004230:c.95C>T" "EXON2" "Unknown significance" "rs373332326" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.991" "D" 0.05185 "N" 0.999822 "D" "5.09" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10396 0 0 11574 0 0 8644 0 0 6614 0 1 66598 0.0000150155 0 908 0 0 16512 0 1 121246 0.00000824769
416379 "chr19:10335489:G>A" "S1PR2" "NM_004230:p.Thr31Thr" "NM_004230:c.93C>T" "EXON2" "Unknown significance" "rs772497544" "This variant is a VUS because it does not have enough information." 0 10396 0 0 11574 0 0 8644 0 0 6614 0 0 66602 0 0 908 0 1 16512 0.000060562 1 121250 0.00000824742
416380 "chr19:10335492:C>T" "S1PR2" "NM_004230:p.Thr30Thr" "NM_004230:c.90G>A" "EXON2" "Unknown significance" "rs776010598" "This variant is a VUS because it does not have enough information." 1 10390 0.0000962464 1 11572 0.0000864155 0 8638 0 0 6614 0 2 66596 0.0000300318 0 906 0 3 16512 0.000181686 7 121228 0.0000577424
416381 "chr19:10335501:C>T" "S1PR2" "NM_004230:p.Thr27Thr" "NM_004230:c.81G>A" "EXON2" "Unknown significance" "rs747435736" "This variant is a VUS because it does not have enough information." 0 10390 0 0 11568 0 4 8638 0.00046307 0 6612 0 0 66568 0 0 906 0 0 16512 0 4 121194 0.0000330049
416382 "chr19:10335502:G>A" "S1PR2" "NM_004230:p.Thr27Met" "NM_004230:c.80C>T" "EXON2" "Likely benign" "rs376767531" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 0.12 "N" "0.007" "B" 0.675138 "N" 1 "N" "0.49" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10390 0 0 11568 0 0 8638 0 0 6612 0 3 66570 0.0000450653 0 906 0 0 16512 0 3 121196 0.0000247533
416383 "chr19:10335510:C>T" "S1PR2" "NM_004230:p.Thr24Thr" "NM_004230:c.72G>A" "EXON2" "Unknown significance" "rs777041753" "This variant is a VUS because it does not have enough information." 0 10378 0 0 11564 0 0 8628 0 0 6612 0 1 66530 0.0000150308 0 906 0 0 16512 0 1 121130 0.00000825559
416384 "chr19:10335511:G>A" "S1PR2" "NM_004230:p.Thr24Met" "NM_004230:c.71C>T" "EXON2" "Likely benign" "rs189645503" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.998 "C" "0.004" "B" 0.008307 "N" 0.669738 "N" "1.8" "C" 2 8600 0.000232558 0 4406 0 2 13006 0.000153775 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10374 0 1 11564 0.0000864753 0 8624 0 1 6612 0.00015124 21 66520 0.000315695 0 906 0 1 16512 0.000060562 24 121112 0.000198164
416385 "chr19:10335522:A>G" "S1PR2" "NM_004230:p.Tyr20Tyr" "NM_004230:c.60T>C" "EXON2" "Unknown significance" "rs765252554" "This variant is a VUS because it does not have enough information." 0 10352 0 0 11552 0 1 8606 0.000116198 0 6610 0 2 66438 0.0000301033 0 906 0 0 16506 0 3 120970 0.0000247995
416386 "chr19:10335524:A>T" "S1PR2" "NM_004230:p.Tyr20Asn" "NM_004230:c.58T>A" "EXON2" "Unknown significance" "rs556142679" "This variant is a VUS because it does not have enough information." 1.14 "C" "0.779" "P" 0.042044 "N" 0.996236 "D" "5.09" "C" 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416387 "chr19:10335525:A>G" "S1PR2" "NM_004230:p.Asn19Asn" "NM_004230:c.57T>C" "EXON2" "Unknown significance" "rs773419520" "This variant is a VUS because it does not have enough information." 0 10350 0 0 11550 0 0 8600 0 0 6610 0 0 66414 0 0 906 0 1 16492 0.0000606355 1 120922 0.00000826979
416388 "chr19:10335536:C>G" "S1PR2" "NM_004230:p.Glu16Gln" "NM_004230:c.46G>C" "EXON2" "Likely benign" "rs763178672" "Pathogenicity is based on prediction data only. 1 out of 5 predictions were pathogenic." 0.892 "N" "0.437" "B" 0.020586 "N" 0.976582 "N" "5.09" "C" 0 10328 0 0 11534 0 0 8584 0 0 6608 0 2 66226 0.0000301996 0 904 0 0 16416 0 2 120600 0.0000165837
416389 "chr19:10335550:G>C" "S1PR2" "NM_004230:p.Pro11Arg" "NM_004230:c.32C>G" "EXON2" "Likely benign" "rs766650153" "Pathogenicity is based on prediction data only. 2 out of 5 predictions were pathogenic." 0.998 "C" "0.047" "B" 0.045284 "N" 0.999827 "N" "3.98" "C" 0 10290 0 1 11520 0.0000868056 0 8550 0 0 6602 0 0 65952 0 0 900 0 0 16092 0 1 119906 0.00000833987
416390 "chr19:10335552:G>T" "S1PR2" "NM_004230:p.Asn10Lys" "NM_004230:c.30C>A" "EXON2" "Benign" "rs56357614" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0.12 "N" "0.03" "B" 0.624577 "N" 0.864671 "D" "2.38" "C" 123 8600 0.0143023 14 4406 0.00317749 137 13006 0.0105336 2 1322 0.0015 11 1006 0.0109 3 694 0.0043 0 1008 0 2 978 0.002 18 5008 0.00359425 24 10272 0.00233645 69 11516 0.00599166 5 8548 0.000584932 19 6602 0.00287792 947 65886 0.0143733 11 896 0.0122768 109 16006 0.00680995 1184 119726 0.00988925
416391 "chr19:10335564:C>T" "S1PR2" "NM_004230:p.Ser6Ser" "NM_004230:c.18G>A" "EXON2" "Unknown significance" "rs754807977" "This variant is a VUS because it does not have enough information." 0 10184 0 0 11498 0 0 8502 0 0 6598 0 0 65388 0 0 886 0 1 15412 0.0000648845 1 118468 0.0000084411
416392 "chr19:10335565:G>A" "S1PR2" "NM_004230:p.Ser6Leu" "NM_004230:c.17C>T" "EXON2" "Unknown significance" "rs767468819" "This variant is a VUS because it does not have enough information." 0.998 "C" "0.85" "P" 0.626007 "N" 0.992623 "D" "4.02" "C" 0 10184 0 0 11496 0 0 8502 0 0 6600 0 0 65382 0 0 884 0 1 15434 0.000064792 1 118482 0.0000084401
416393 "chr19:10335574:C>T" "S1PR2" "NM_004230:p.Ser3Asn" "NM_004230:c.8G>A" "EXON2" "Unknown significance" "rs181702636" "This variant is a VUS because it does not have enough information." 0.036 "N" "0.001" "B" 0.001541 "U" 0.817189 "D" "0.346" "C"
416394 "chr19:10335581:T>C" "S1PR2" "NM_004230:p.Met1Val" "NM_004230:c.1A>G" "EXON2" "Unknown significance" "rs370619769" "This variant is a VUS because it does not have enough information." 1.011 "C" "0.956" "P" 0.070849 "U" 1 "D" "5.09" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876
416395 "chr19:10335582:->GGTG" "S1PR2" "NM_004230:c.-1_1insCACC" "FIVE_PRIME_EXON" "Unknown significance" "rs779868016" "This variant is a VUS because it does not have enough information."
416396 "chr19:10335582:G>T" "S1PR2" "NM_004230:c.-1C>A" "FIVE_PRIME_EXON" "Unknown significance" "rs755288880" "This variant is a VUS because it does not have enough information."
416397 "chr19:10335585:->G" "S1PR2" "NM_004230:c.-4_-3insC" "FIVE_PRIME_EXON" "Unknown significance" "rs35452612" "This variant is a VUS because it does not have enough information."
416398 "chr19:10335597:C>T" "S1PR2" "NM_004230:c.-16G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs752600028" "This variant is a VUS because it does not have enough information." 0 9926 0 0 11416 0 0 8364 0 0 6572 0 1 63992 0.000015627 0 844 0 0 13666 0 1 114780 0.00000871232
416399 "chr19:10335605:G>C" "S1PR2" "NM_004230:c.-24C>G" "FIVE_PRIME_EXON" "Unknown significance" "rs755612253" "This variant is a VUS because it does not have enough information." 0 9850 0 1 11382 0.000087858 0 8312 0 0 6568 0 0 63610 0 0 836 0 0 13116 0 1 113674 0.00000879709
416400 "chr19:10335611:G>-" "S1PR2" "NM_004230:c.-30delC" "FIVE_PRIME_EXON" "Unknown significance" "rs753386724" "This variant is a VUS because it does not have enough information." 1 9794 0.000102103 0 11378 0 0 8282 0 0 6568 0 3 63334 0.0000473679 0 828 0 0 12770 0 4 112954 0.0000354126
416401 "chr19:10335611:G>A" "S1PR2" "NM_004230:c.-30C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs777150484" "This variant is a VUS because it does not have enough information." 0 9778 0 0 11366 0 0 8270 0 0 6564 0 2 63242 0.0000316246 0 822 0 0 12592 0 2 112634 0.0000177566
416402 "chr19:10335614:G>A" "S1PR2" "NM_004230:c.-33C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs753471077" "This variant is a VUS because it does not have enough information." 0 9748 0 0 11344 0 0 8234 0 0 6562 0 1 63108 0.0000158459 0 824 0 0 12478 0 1 112298 0.00000890488
416403 "chr19:10335631:G>C" "S1PR2" "NM_004230:c.-42-8C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs756955645" "This variant is a VUS because it does not have enough information."
416404 "chr19:10335633:->AGAC" "S1PR2" "NM_004230:c.-42-10_-42-9insGTCT" "FIVE_PRIME_INTRON" "Unknown significance" "rs778620269" "This variant is a VUS because it does not have enough information." 0 9238 0 1 10718 0.000093301 0 7752 0 0 6408 0 3 59632 0.0000503086 0 778 0 0 10518 0 4 105044 0.0000380793
416405 "chr19:10335633:->AGACAGAC" "S1PR2" "NM_004230:c.-42-10_-42-9insGTCTGTCT" "FIVE_PRIME_INTRON" "Unknown significance" "rs778620269" "This variant is a VUS because it does not have enough information." 0 9238 0 0 10718 0 0 7752 0 0 6408 0 1 59632 0.0000167695 0 778 0 0 10518 0 1 105044 0.00000951982
416406 "chr19:10335633:AGAC>-" "S1PR2" "NM_004230:c.-42-10_-42-5delGTCT" "FIVE_PRIME_INTRON" "Unknown significance" "rs754625300" "This variant is a VUS because it does not have enough information." 7 9238 0.00075774 16 10718 0.00149282 6 7752 0.000773994 3 6408 0.000468165 65 59632 0.00109002 2 778 0.00257069 14 10518 0.00133105 113 105044 0.00107574
416407 "chr19:10335655:T>C" "S1PR2" "NM_004230:c.-42-32A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs769701372" "This variant is a VUS because it does not have enough information."
416408 "chr19:10335666:T>A" "S1PR2" "NM_004230:c.-42-43A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs772997253" "This variant is a VUS because it does not have enough information."
416409 "chr19:10335693:G>A" "S1PR2" "NM_004230:c.-42-70C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs150452226" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416410 "chr19:10335700:C>T" "S1PR2" "NM_004230:c.-42-77G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs541277550" "This variant is a VUS because it does not have enough information."
416411 "chr19:10335732:G>T" "S1PR2" "NM_004230:c.-42-109C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs762914426" "This variant is a VUS because it does not have enough information."
416412 "chr19:10335779:A>G" "S1PR2" "NM_004230:c.-42-156T>C" "FIVE_PRIME_INTRON" "Benign" "rs114756388" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 20 1322 0.0151 0 1006 0 0 694 0 0 1008 0 0 978 0 20 5008 0.00399361
416413 "chr19:10335780:C>T" "S1PR2" "NM_004230:c.-42-157G>A" "FIVE_PRIME_INTRON" "Benign" "rs11878516" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 224 1322 0.1694 186 1006 0.1849 114 694 0.1643 83 1008 0.0823 106 978 0.1084 713 5008 0.142372
416414 "chr19:10335792:A>G" "S1PR2" "NM_004230:c.-42-169T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs542424487" "This variant is a VUS because it does not have enough information." 3 1322 0.0023 0 1006 0 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
416415 "chr19:10335819:C>G" "S1PR2" "NM_004230:c.-42-196G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs138286594" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416416 "chr19:10335832:C>T" "S1PR2" "NM_004230:c.-42-209G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs531855062" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416417 "chr19:10335833:G>A" "S1PR2" "NM_004230:c.-42-210C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs796134604" "This variant is a VUS because it does not have enough information."
416418 "chr19:10335836:A>G" "S1PR2" "NM_004230:c.-42-213T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs550036028" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416419 "chr19:10335858:C>T" "S1PR2" "NM_004230:c.-42-235G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs142736246" "This variant is a VUS because it does not have enough information."
416420 "chr19:10335861:C>A" "S1PR2" "NM_004230:c.-42-238G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs571699445" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416421 "chr19:10335881:C>T" "S1PR2" "NM_004230:c.-42-258G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs532590835" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416422 "chr19:10335907:C>A" "S1PR2" "NM_004230:c.-42-284G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs547808453" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416423 "chr19:10335911:A>G" "S1PR2" "NM_004230:c.-42-288T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs146961283" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416424 "chr19:10335923:A>G" "S1PR2" "NM_004230:c.-42-300T>C" "FIVE_PRIME_INTRON" "Benign" "rs74179903" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 5 1322 0.0038 66 1006 0.0656 137 694 0.1974 0 1008 0 12 978 0.0123 220 5008 0.0439297
416425 "chr19:10335959:C>T" "S1PR2" "NM_004230:c.-42-336G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs186110525" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416426 "chr19:10335976:G>A" "S1PR2" "NM_004230:c.-42-353C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs570119315" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416427 "chr19:10335989:C>T" "S1PR2" "NM_004230:c.-42-366G>A" "FIVE_PRIME_INTRON" "Benign" "rs376986652" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 10 1008 0.0099 0 978 0 10 5008 0.00199681
416428 "chr19:10336067:->T" "S1PR2" "NM_004230:c.-42-444_-42-443insA" "FIVE_PRIME_INTRON" "Unknown significance" "rs35464657" "This variant is a VUS because it does not have enough information."
416429 "chr19:10336067:->TT" "S1PR2" "NM_004230:c.-42-444_-42-443insAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs35464657" "This variant is a VUS because it does not have enough information."
416430 "chr19:10336067:->TTT" "S1PR2" "NM_004230:c.-42-444_-42-443insAAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs35464657" "This variant is a VUS because it does not have enough information."
416431 "chr19:10336067:T>-" "S1PR2" "NM_004230:c.-42-444delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs35814702" "This variant is a VUS because it does not have enough information."
416432 "chr19:10336067:TTT>-" "S1PR2" "NM_004230:c.-42-444_-42-440delAAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs545766744" "This variant is a VUS because it does not have enough information."
416433 "chr19:10336115:A>C" "S1PR2" "NM_004230:c.-42-492T>G" "FIVE_PRIME_INTRON" "Benign" "rs8102623" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1201 1322 0.9085 818 1006 0.8131 560 694 0.8069 549 1008 0.5446 783 978 0.8006 3911 5008 0.78095
416434 "chr19:10336135:C>T" "S1PR2" "NM_004230:c.-42-512G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs534124028" "This variant is a VUS because it does not have enough information."
416435 "chr19:10336175:T>C" "S1PR2" "NM_004230:c.-42-552A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs11671328" "This variant is a VUS because it does not have enough information."
416436 "chr19:10336193:T>C" "S1PR2" "NM_004230:c.-42-570A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs11671332" "This variant is a VUS because it does not have enough information."
416437 "chr19:10336249:T>A" "S1PR2" "NM_004230:c.-42-626A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs78329317" "This variant is a VUS because it does not have enough information."
416438 "chr19:10336267:G>C" "S1PR2" "NM_004230:c.-42-644C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs781059550" "This variant is a VUS because it does not have enough information."
416439 "chr19:10336325:C>T" "S1PR2" "NM_004230:c.-42-702G>A" "FIVE_PRIME_INTRON" "Benign" "rs143418139" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 20 1322 0.0151 0 1006 0 0 694 0 0 1008 0 0 978 0 20 5008 0.00399361
416440 "chr19:10336339:G>A" "S1PR2" "NM_004230:c.-42-716C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs745857039" "This variant is a VUS because it does not have enough information."
416441 "chr19:10336363:C>T" "S1PR2" "NM_004230:c.-42-740G>A" "FIVE_PRIME_INTRON" "Benign" "rs143905261" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 14 1322 0.0106 0 1006 0 0 694 0 0 1008 0 0 978 0 14 5008 0.00279553
416442 "chr19:10336374:G>A" "S1PR2" "NM_004230:c.-42-751C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs780494179" "This variant is a VUS because it does not have enough information."
416443 "chr19:10336395:T>A" "S1PR2" "NM_004230:c.-42-772A>T" "FIVE_PRIME_INTRON" "Benign" "rs114116676" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 75 1322 0.0567 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 77 5008 0.0153754
416444 "chr19:10336415:G>A" "S1PR2" "NM_004230:c.-42-792C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs769287892" "This variant is a VUS because it does not have enough information."
416445 "chr19:10336524:A>G" "S1PR2" "NM_004230:c.-42-901T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs572026981" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416446 "chr19:10336542:T>G" "S1PR2" "NM_004230:c.-42-919A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs775037760" "This variant is a VUS because it does not have enough information."
416447 "chr19:10336575:A>G" "S1PR2" "NM_004230:c.-42-952T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs542529862" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 3 1008 0.003 0 978 0 3 5008 0.000599042
416448 "chr19:10336605:T>C" "S1PR2" "NM_004230:c.-42-982A>G" "FIVE_PRIME_INTRON" "Benign" "rs190880148" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 16 1322 0.0121 0 1006 0 0 694 0 0 1008 0 0 978 0 16 5008 0.00319489
416449 "chr19:10336628:C>T" "S1PR2" "NM_004230:c.-42-1005G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs531440117" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416450 "chr19:10336656:G>T" "S1PR2" "NM_004230:c.-42-1033C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs199814671" "This variant is a VUS because it does not have enough information."
416451 "chr19:10336663:->CC" "S1PR2" "NM_004230:c.-42-1040_-42-1039insGG" "FIVE_PRIME_INTRON" "Benign" "rs57295053" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 68 1322 0.0514 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 72 5008 0.014377
416452 "chr19:10336681:C>T" "S1PR2" "NM_004230:c.-42-1058G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs370371926" "This variant is a VUS because it does not have enough information."
416453 "chr19:10336722:G>-" "S1PR2" "NM_004230:c.-42-1099delC" "FIVE_PRIME_INTRON" "Benign" "rs34638919" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 114 1322 0.0862 406 1006 0.4036 181 694 0.2608 155 1008 0.1538 407 978 0.4162 1263 5008 0.252196
416454 "chr19:10336722:->G" "S1PR2" "NM_004230:c.-42-1099_-42-1098insC" "FIVE_PRIME_INTRON" "Unknown significance" "rs761898469" "This variant is a VUS because it does not have enough information."
416455 "chr19:10336722:G>C" "S1PR2" "NM_004230:c.-42-1099C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs113808592" "This variant is a VUS because it does not have enough information."
416456 "chr19:10336722:G>T" "S1PR2" "NM_004230:c.-42-1099C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs113808592" "This variant is a VUS because it does not have enough information."
416457 "chr19:10336728:C>T" "S1PR2" "NM_004230:c.-42-1105G>A" "FIVE_PRIME_INTRON" "Benign" "rs76850638" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 375 1322 0.2837 0 1006 0 13 694 0.0187 0 1008 0 0 978 0 388 5008 0.077476
416458 "chr19:10336740:C>G" "S1PR2" "NM_004230:c.-42-1117G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs373821386" "This variant is a VUS because it does not have enough information."
416459 "chr19:10336780:G>A" "S1PR2" "NM_004230:c.-42-1157C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs565425145" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361
416460 "chr19:10336791:C>T" "S1PR2" "NM_004230:c.-42-1168G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs376962268" "This variant is a VUS because it does not have enough information."
416461 "chr19:10336792:G>A" "S1PR2" "NM_004230:c.-42-1169C>T" "FIVE_PRIME_INTRON" "Benign" "rs548423011" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 0 1008 0 9 978 0.0092 9 5008 0.00179712
416462 "chr19:10336797:C>A" "S1PR2" "NM_004230:c.-42-1174G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs370768731" "This variant is a VUS because it does not have enough information."
416463 "chr19:10336822:->GAGA" "S1PR2" "NM_004230:c.-42-1199_-42-1198insTCTC" "FIVE_PRIME_INTRON" "Unknown significance" "rs779730945" "This variant is a VUS because it does not have enough information."
416464 "chr19:10336866:C>A" "S1PR2" "NM_004230:c.-42-1243G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs538052839" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416465 "chr19:10336876:C>T" "S1PR2" "NM_004230:c.-42-1253G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs768287206" "This variant is a VUS because it does not have enough information."
416466 "chr19:10336877:G>A" "S1PR2" "NM_004230:c.-42-1254C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs566044122" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416467 "chr19:10336912:C>T" "S1PR2" "NM_004230:c.-42-1289G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs530437233" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416468 "chr19:10336913:G>A" "S1PR2" "NM_004230:c.-42-1290C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs773903217" "This variant is a VUS because it does not have enough information."
416469 "chr19:10336921:C>G" "S1PR2" "NM_004230:c.-42-1298G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs75733536" "This variant is a VUS because it does not have enough information." 0 1322 0 2 1006 0.002 0 694 0 0 1008 0 2 978 0.002 4 5008 0.000798722
416470 "chr19:10336927:T>C" "S1PR2" "NM_004230:c.-42-1304A>G" "FIVE_PRIME_INTRON" "Benign" "rs570311109" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 0 1008 0 7 978 0.0072 7 5008 0.00139776
416471 "chr19:10336951:C>T" "S1PR2" "NM_004230:c.-42-1328G>A" "FIVE_PRIME_INTRON" "Benign" "rs116357424" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 100 1322 0.0756 0 1006 0 5 694 0.0072 0 1008 0 1 978 0.001 106 5008 0.0211661
416472 "chr19:10336952:G>A" "S1PR2" "NM_004230:c.-42-1329C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs552693689" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416473 "chr19:10336974:AG>-" "S1PR2" "NM_004230:c.-42-1351_-42-1348delCT" "FIVE_PRIME_INTRON" "Unknown significance" "rs754587818" "This variant is a VUS because it does not have enough information."
416474 "chr19:10337022:T>G" "S1PR2" "NM_004230:c.-42-1399A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs750926790" "This variant is a VUS because it does not have enough information."
416475 "chr19:10337033:T>G" "S1PR2" "NM_004230:c.-42-1410A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs571020992" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416476 "chr19:10337060:C>T" "S1PR2" "NM_004230:c.-42-1437G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs183545249" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 5 5008 0.000998403
416477 "chr19:10337063:G>C" "S1PR2" "NM_004230:c.-42-1440C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs148269931" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416478 "chr19:10337131:T>A" "S1PR2" "NM_004230:c.-42-1508A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs375326682" "This variant is a VUS because it does not have enough information."
416479 "chr19:10337135:A>-" "S1PR2" "NM_004230:c.-42-1512delT" "FIVE_PRIME_INTRON" "Unknown significance" "rs757871042" "This variant is a VUS because it does not have enough information."
416480 "chr19:10337135:A>G" "S1PR2" "NM_004230:c.-42-1512T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs74179904" "This variant is a VUS because it does not have enough information."
416481 "chr19:10337145:T>C" "S1PR2" "NM_004230:c.-42-1522A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs185311251" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 1 978 0.001 5 5008 0.000998403
416482 "chr19:10337152:C>T" "S1PR2" "NM_004230:c.-42-1529G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs118140245" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416483 "chr19:10337153:G>A" "S1PR2" "NM_004230:c.-42-1530C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs761333910" "This variant is a VUS because it does not have enough information."
416484 "chr19:10337161:->C" "S1PR2" "NM_004230:c.-42-1538_-42-1537insG" "FIVE_PRIME_INTRON" "Unknown significance" "rs774821140" "This variant is a VUS because it does not have enough information."
416485 "chr19:10337217:T>C" "S1PR2" "NM_004230:c.-42-1594A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs554608588" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 3 978 0.0031 3 5008 0.000599042
416486 "chr19:10337230:C>T" "S1PR2" "NM_004230:c.-42-1607G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs576283555" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416487 "chr19:10337246:G>A" "S1PR2" "NM_004230:c.-42-1623C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs745961342" "This variant is a VUS because it does not have enough information."
416488 "chr19:10337321:G>A" "S1PR2" "NM_004230:c.-42-1698C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs543255561" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416489 "chr19:10337329:C>T" "S1PR2" "NM_004230:c.-42-1706G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs372420876" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 3 1008 0.003 1 978 0.001 4 5008 0.000798722
416490 "chr19:10337432:G>A" "S1PR2" "NM_004230:c.-42-1809C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs577429116" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416491 "chr19:10337450:T>G" "S1PR2" "NM_004230:c.-42-1827A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs541508099" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416492 "chr19:10337509:G>A" "S1PR2" "NM_004230:c.-42-1886C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs559860451" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361
416493 "chr19:10337527:T>C" "S1PR2" "NM_004230:c.-42-1904A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs753901268" "This variant is a VUS because it does not have enough information."
416494 "chr19:10337582:A>G" "S1PR2" "NM_004230:c.-42-1959T>C" "FIVE_PRIME_INTRON" "Benign" "rs114474550" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 75 1322 0.0567 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 77 5008 0.0153754
416495 "chr19:10337598:->C" "S1PR2" "NM_004230:c.-42-1975_-42-1974insG" "FIVE_PRIME_INTRON" "Benign" "rs576972961" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 155 1322 0.1172 217 1006 0.2157 242 694 0.3487 231 1008 0.2292 245 978 0.2505 1090 5008 0.217652
416496 "chr19:10337598:C>-" "S1PR2" "NM_004230:c.-42-1975delG" "FIVE_PRIME_INTRON" "Benign" "rs542709020" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 91 1322 0.0688 0 1006 0 5 694 0.0072 0 1008 0 0 978 0 96 5008 0.0191693
416497 "chr19:10337605:A>C" "S1PR2" "NM_004230:c.-42-1982T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs758630488" "This variant is a VUS because it does not have enough information."
416498 "chr19:10337607:C>A" "S1PR2" "NM_004230:c.-42-1984G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs780139612" "This variant is a VUS because it does not have enough information."
416499 "chr19:10337608:C>T" "S1PR2" "NM_004230:c.-42-1985G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs548563435" "This variant is a VUS because it does not have enough information." 3 1322 0.0023 0 1006 0 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
416500 "chr19:10337699:G>A" "S1PR2" "NM_004230:c.-42-2076C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs755021957" "This variant is a VUS because it does not have enough information."
416501 "chr19:10337771:G>T" "S1PR2" "NM_004230:c.-42-2148C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs779157306" "This variant is a VUS because it does not have enough information."
416502 "chr19:10337776:G>C" "S1PR2" "NM_004230:c.-42-2153C>G" "FIVE_PRIME_INTRON" "Benign" "rs80161551" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 45 1322 0.034 4 1006 0.004 2 694 0.0029 72 1008 0.0714 13 978 0.0133 136 5008 0.0271565
416503 "chr19:10337779:G>A" "S1PR2" "NM_004230:c.-42-2156C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs189970301" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416504 "chr19:10337782:G>A" "S1PR2" "NM_004230:c.-42-2159C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs552513320" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416505 "chr19:10337808:T>A" "S1PR2" "NM_004230:c.-42-2185A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs182623858" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 1 1006 0.001 0 694 0 0 1008 0 1 978 0.001 3 5008 0.000599042
416506 "chr19:10337868:G>C" "S1PR2" "NM_004230:c.-42-2245C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs534868265" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416507 "chr19:10337877:T>C" "S1PR2" "NM_004230:c.-42-2254A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs745789870" "This variant is a VUS because it does not have enough information."
416508 "chr19:10337897:T>A" "S1PR2" "NM_004230:c.-42-2274A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs568563911" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 4 978 0.0041 4 5008 0.000798722
416509 "chr19:10337907:->AG" "S1PR2" "NM_004230:c.-42-2284_-42-2283insCT" "FIVE_PRIME_INTRON" "Benign" "rs112587180" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 56 1322 0.0424 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 57 5008 0.0113818
416510 "chr19:10337909:C>T" "S1PR2" "NM_004230:c.-42-2286G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs769660904" "This variant is a VUS because it does not have enough information."
416511 "chr19:10337910:G>A" "S1PR2" "NM_004230:c.-42-2287C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs779860465" "This variant is a VUS because it does not have enough information."
416512 "chr19:10337941:A>G" "S1PR2" "NM_004230:c.-42-2318T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs565428079" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722
416513 "chr19:10337957:A>G" "S1PR2" "NM_004230:c.-42-2334T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs111445537" "This variant is a VUS because it does not have enough information."
416514 "chr19:10338060:G>A" "S1PR2" "NM_004230:c.-42-2437C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs768069008" "This variant is a VUS because it does not have enough information."
416515 "chr19:10338069:T>A" "S1PR2" "NM_004230:c.-42-2446A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs774029594" "This variant is a VUS because it does not have enough information."
416516 "chr19:10338099:T>-" "S1PR2" "NM_004230:c.-42-2476delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs776979639" "This variant is a VUS because it does not have enough information."
416517 "chr19:10338104:G>C" "S1PR2" "NM_004230:c.-42-2481C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs761409120" "This variant is a VUS because it does not have enough information."
416518 "chr19:10338126:G>A" "S1PR2" "NM_004230:c.-42-2503C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs772563067" "This variant is a VUS because it does not have enough information."
416519 "chr19:10338131:C>T" "S1PR2" "NM_004230:c.-42-2508G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs535914436" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416520 "chr19:10338177:C>-" "S1PR2" "NM_004230:c.-42-2554delG" "FIVE_PRIME_INTRON" "Unknown significance" "rs773087842" "This variant is a VUS because it does not have enough information."
416521 "chr19:10338192:G>-" "S1PR2" "NM_004230:c.-42-2569delC" "FIVE_PRIME_INTRON" "Unknown significance" "rs765172135" "This variant is a VUS because it does not have enough information."
416522 "chr19:10338211:C>T" "S1PR2" "NM_004230:c.-42-2588G>A" "FIVE_PRIME_INTRON" "Benign" "rs75972477" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 25 1322 0.0189 0 1006 0 0 694 0 0 1008 0 0 978 0 25 5008 0.00499201
416523 "chr19:10338219:C>T" "S1PR2" "NM_004230:c.-42-2596G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs534846763" "This variant is a VUS because it does not have enough information."
416524 "chr19:10338235:A>C" "S1PR2" "NM_004230:c.-42-2612T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs576266757" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
416525 "chr19:10338258:G>A" "S1PR2" "NM_004230:c.-42-2635C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs537315924" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416526 "chr19:10338307:G>A" "S1PR2" "NM_004230:c.-42-2684C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs761135588" "This variant is a VUS because it does not have enough information."
416527 "chr19:10338344:T>C" "S1PR2" "NM_004230:c.-42-2721A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs558807902" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416528 "chr19:10338351:C>T" "S1PR2" "NM_004230:c.-42-2728G>A" "FIVE_PRIME_INTRON" "Benign" "rs7246367" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 2 1322 0.0015 43 1006 0.0427 11 694 0.0159 1 1008 0.001 5 978 0.0051 62 5008 0.0123802
416529 "chr19:10338353:G>A" "S1PR2" "NM_004230:c.-42-2730C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs188139894" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416530 "chr19:10338400:C>T" "S1PR2" "NM_004230:c.-42-2777G>A" "FIVE_PRIME_INTRON" "Benign" "rs141378756" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 7 694 0.0101 7 1008 0.0069 1 978 0.001 15 5008 0.00299521
416531 "chr19:10338413:C>G" "S1PR2" "NM_004230:c.-42-2790G>C" "FIVE_PRIME_INTRON" "Benign" "rs62128726" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 113 1322 0.0855 406 1006 0.4036 181 694 0.2608 155 1008 0.1538 409 978 0.4182 1264 5008 0.252396
416532 "chr19:10338413:C>A" "S1PR2" "NM_004230:c.-42-2790G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs62128726" "This variant is a VUS because it does not have enough information."
416533 "chr19:10338419:G>T" "S1PR2" "NM_004230:c.-42-2796C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs541870861" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 3 5008 0.000599042
416534 "chr19:10338428:T>C" "S1PR2" "NM_004230:c.-42-2805A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs765285419" "This variant is a VUS because it does not have enough information."
416535 "chr19:10338433:G>A" "S1PR2" "NM_004230:c.-42-2810C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs367824087" "This variant is a VUS because it does not have enough information."
416536 "chr19:10338473:G>A" "S1PR2" "NM_004230:c.-42-2850C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs758675119" "This variant is a VUS because it does not have enough information."
416537 "chr19:10338475:->G" "S1PR2" "NM_004230:c.-42-2852_-42-2851insC" "FIVE_PRIME_INTRON" "Unknown significance" "rs35493488" "This variant is a VUS because it does not have enough information."
416538 "chr19:10338488:G>T" "S1PR2" "NM_004230:c.-42-2865C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs563667391" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416539 "chr19:10338501:G>A" "S1PR2" "NM_004230:c.-42-2878C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs531133425" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
416540 "chr19:10338522:C>G" "S1PR2" "NM_004230:c.-42-2899G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs764310890" "This variant is a VUS because it does not have enough information."
416541 "chr19:10338544:G>C" "S1PR2" "NM_004230:c.-42-2921C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs750147746" "This variant is a VUS because it does not have enough information."
416542 "chr19:10338544:G>T" "S1PR2" "NM_004230:c.-42-2921C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs750147746" "This variant is a VUS because it does not have enough information."
416543 "chr19:10338554:G>C" "S1PR2" "NM_004230:c.-42-2931C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs371303430" "This variant is a VUS because it does not have enough information."
416544 "chr19:10338575:A>-" "S1PR2" "NM_004230:c.-42-2952delT" "FIVE_PRIME_INTRON" "Unknown significance" "rs763013703" "This variant is a VUS because it does not have enough information."
416545 "chr19:10338614:A>T" "S1PR2" "NM_004230:c.-42-2991T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs546118741" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416546 "chr19:10338632:G>A" "S1PR2" "NM_004230:c.-42-3009C>T" "FIVE_PRIME_INTRON" "Benign" "rs114313250" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 74 1322 0.056 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 76 5008 0.0151757
416547 "chr19:10338671:C>T" "S1PR2" "NM_004230:c.-42-3048G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs528702811" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416548 "chr19:10338674:G>A" "S1PR2" "NM_004230:c.-42-3051C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs546788196" "This variant is a VUS because it does not have enough information." 0 1322 0 3 1006 0.003 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
416549 "chr19:10338676:T>G" "S1PR2" "NM_004230:c.-42-3053A>C" "FIVE_PRIME_INTRON" "Benign" "rs8104426" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1145 1322 0.8661 820 1006 0.8151 561 694 0.8084 547 1008 0.5427 786 978 0.8037 3859 5008 0.770567
416550 "chr19:10338702:C>T" "S1PR2" "NM_004230:c.-42-3079G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs529755452" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416551 "chr19:10338764:A>G" "S1PR2" "NM_004230:c.-43+3116T>C" "FIVE_PRIME_INTRON" "Benign" "rs4804496" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1146 1322 0.8669 818 1006 0.8131 559 694 0.8055 547 1008 0.5427 785 978 0.8027 3855 5008 0.769768
416552 "chr19:10338798:A>C" "S1PR2" "NM_004230:c.-43+3082T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs569604451" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416553 "chr19:10338811:A>G" "S1PR2" "NM_004230:c.-43+3069T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs754478691" "This variant is a VUS because it does not have enough information."
416554 "chr19:10338812:CT>-" "S1PR2" "NM_004230:c.-43+3068_-43+3071delAG" "FIVE_PRIME_INTRON" "Unknown significance" "rs370290730" "This variant is a VUS because it does not have enough information."
416555 "chr19:10338815:A>-" "S1PR2" "NM_004230:c.-43+3065delT" "FIVE_PRIME_INTRON" "Unknown significance" "rs775273252" "This variant is a VUS because it does not have enough information."
416556 "chr19:10338815:AA>-" "S1PR2" "NM_004230:c.-43+3065_-43+3068delTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs141807915" "This variant is a VUS because it does not have enough information."
416557 "chr19:10338819:A>C" "S1PR2" "NM_004230:c.-43+3061T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs75375925" "This variant is a VUS because it does not have enough information."
416558 "chr19:10338838:A>T" "S1PR2" "NM_004230:c.-43+3042T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs74401753" "This variant is a VUS because it does not have enough information."
416559 "chr19:10338840:T>A" "S1PR2" "NM_004230:c.-43+3040A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs75326915" "This variant is a VUS because it does not have enough information."
416560 "chr19:10338856:T>G" "S1PR2" "NM_004230:c.-43+3024A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs139115005" "This variant is a VUS because it does not have enough information."
416561 "chr19:10338860:C>T" "S1PR2" "NM_004230:c.-43+3020G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs536618604" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416562 "chr19:10338861:G>A" "S1PR2" "NM_004230:c.-43+3019C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs558925417" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416563 "chr19:10338902:C>G" "S1PR2" "NM_004230:c.-43+2978G>C" "FIVE_PRIME_INTRON" "Benign" "rs144252086" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 205 1322 0.1551 1 1006 0.001 4 694 0.0058 0 1008 0 0 978 0 210 5008 0.0419329
416564 "chr19:10338906:T>C" "S1PR2" "NM_004230:c.-43+2974A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs767113061" "This variant is a VUS because it does not have enough information."
416565 "chr19:10338911:C>T" "S1PR2" "NM_004230:c.-43+2969G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs577086876" "This variant is a VUS because it does not have enough information."
416566 "chr19:10338912:C>T" "S1PR2" "NM_004230:c.-43+2968G>A" "FIVE_PRIME_INTRON" "Benign" "rs146093510" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 37 1322 0.028 0 1006 0 0 694 0 0 1008 0 0 978 0 37 5008 0.00738818
416567 "chr19:10338942:C>T" "S1PR2" "NM_004230:c.-43+2938G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs368884009" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416568 "chr19:10338946:G>C" "S1PR2" "NM_004230:c.-43+2934C>G" "FIVE_PRIME_INTRON" "Benign" "rs192708664" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 68 1322 0.0514 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 72 5008 0.014377
416569 "chr19:10338946:GC>CT" "S1PR2" "Unknown significance" "rs386806765" "This variant is a VUS because it does not have enough information."
416570 "chr19:10338947:C>T" "S1PR2" "NM_004230:c.-43+2933G>A" "FIVE_PRIME_INTRON" "Benign" "rs183489172" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 68 1322 0.0514 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 72 5008 0.014377
416571 "chr19:10338986:CAAAACAAAA>-" "S1PR2" "NM_004230:c.-43+2894_-43+2905delTTTTGTTTTG" "FIVE_PRIME_INTRON" "Benign" "rs140658666" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 104 1322 0.0787 184 1006 0.1829 110 694 0.1585 85 1008 0.0843 107 978 0.1094 590 5008 0.117812
416572 "chr19:10338986:CAAAA>-" "S1PR2" "NM_004230:c.-43+2894_-43+2900delTTTTG" "FIVE_PRIME_INTRON" "Unknown significance" "rs754423340" "This variant is a VUS because it does not have enough information."
416573 "chr19:10339016:T>C" "S1PR2" "NM_004230:c.-43+2864A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs557155321" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416574 "chr19:10339020:A>G" "S1PR2" "NM_004230:c.-43+2860T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs747790901" "This variant is a VUS because it does not have enough information."
416575 "chr19:10339055:G>A" "S1PR2" "NM_004230:c.-43+2825C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs374606533" "This variant is a VUS because it does not have enough information."
416576 "chr19:10339070:C>T" "S1PR2" "NM_004230:c.-43+2810G>A" "FIVE_PRIME_INTRON" "Benign" "rs187508726" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 10 1006 0.0099 3 694 0.0043 0 1008 0 0 978 0 13 5008 0.00259585
416577 "chr19:10339099:T>G" "S1PR2" "NM_004230:c.-43+2781A>C" "FIVE_PRIME_INTRON" "Benign" "rs140102339" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 45 1322 0.034 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 47 5008 0.00938498
416578 "chr19:10339116:C>T" "S1PR2" "NM_004230:c.-43+2764G>A" "FIVE_PRIME_INTRON" "Benign" "rs73510839" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 357 1322 0.27 0 1006 0 14 694 0.0202 0 1008 0 0 978 0 371 5008 0.0740815
416579 "chr19:10339131:A>G" "S1PR2" "NM_004230:c.-43+2749T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs747337654" "This variant is a VUS because it does not have enough information."
416580 "chr19:10339198:ATCTT>-" "S1PR2" "NM_004230:c.-43+2682_-43+2688delAAGAT" "FIVE_PRIME_INTRON" "Unknown significance" "rs780700740" "This variant is a VUS because it does not have enough information."
416581 "chr19:10339237:C>T" "S1PR2" "NM_004230:c.-43+2643G>A" "FIVE_PRIME_INTRON" "Benign" "rs73015138" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 102 1322 0.0772 184 1006 0.1829 110 694 0.1585 85 1008 0.0843 107 978 0.1094 588 5008 0.117412
416582 "chr19:10339244:C>T" "S1PR2" "NM_004230:c.-43+2636G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs542453446" "This variant is a VUS because it does not have enough information."
416583 "chr19:10339245:G>A" "S1PR2" "NM_004230:c.-43+2635C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs540435679" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416584 "chr19:10339249:C>T" "S1PR2" "NM_004230:c.-43+2631G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs562273366" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416585 "chr19:10339298:C>-" "S1PR2" "NM_004230:c.-43+2582delG" "FIVE_PRIME_INTRON" "Unknown significance" "rs36088779" "This variant is a VUS because it does not have enough information."
416586 "chr19:10339329:G>A" "S1PR2" "NM_004230:c.-43+2551C>T" "FIVE_PRIME_INTRON" "Benign" "rs192477302" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 0 694 0 0 1008 0 0 978 0 7 5008 0.00139776
416587 "chr19:10339336:->C" "S1PR2" "NM_004230:c.-43+2544_-43+2545insG" "FIVE_PRIME_INTRON" "Unknown significance" "rs35983252" "This variant is a VUS because it does not have enough information."
416588 "chr19:10339344:A>T" "S1PR2" "NM_004230:c.-43+2536T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs184800772" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416589 "chr19:10339384:C>T" "S1PR2" "NM_004230:c.-43+2496G>A" "FIVE_PRIME_INTRON" "Benign" "rs80241968" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 72 1322 0.0545 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 74 5008 0.0147764
416590 "chr19:10339392:T>G" "S1PR2" "NM_004230:c.-43+2488A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs530558605" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 3 978 0.0031 4 5008 0.000798722
416591 "chr19:10339406:C>A" "S1PR2" "NM_004230:c.-43+2474G>T" "FIVE_PRIME_INTRON" "Benign" "rs188089577" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 11 1322 0.0083 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 12 5008 0.00239617
416592 "chr19:10339420:AGA>-" "S1PR2" "NM_004230:c.-43+2460_-43+2464delTCT" "FIVE_PRIME_INTRON" "Benign" "rs569872658" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 45 1322 0.034 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 47 5008 0.00938498
416593 "chr19:10339486:A>T" "S1PR2" "NM_004230:c.-43+2394T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs760003430" "This variant is a VUS because it does not have enough information."
416594 "chr19:10339496:G>T" "S1PR2" "NM_004230:c.-43+2384C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs570771621" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416595 "chr19:10339520:AGACTC>-" "S1PR2" "NM_004230:c.-43+2360_-43+2367delGAGTCT" "FIVE_PRIME_INTRON" "Unknown significance" "rs757518759" "This variant is a VUS because it does not have enough information."
416596 "chr19:10339530:G>C" "S1PR2" "NM_004230:c.-43+2350C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs534883766" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416597 "chr19:10339537:TGTC>-" "S1PR2" "NM_004230:c.-43+2343_-43+2348delGACA" "FIVE_PRIME_INTRON" "Unknown significance" "rs746310399" "This variant is a VUS because it does not have enough information."
416598 "chr19:10339560:A>G" "S1PR2" "NM_004230:c.-43+2320T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs765357367" "This variant is a VUS because it does not have enough information."
416599 "chr19:10339563:A>T" "S1PR2" "NM_004230:c.-43+2317T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs552915326" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416600 "chr19:10339590:G>A" "S1PR2" "NM_004230:c.-43+2290C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs376051381" "This variant is a VUS because it does not have enough information."
416601 "chr19:10339642:->C" "S1PR2" "NM_004230:c.-43+2238_-43+2239insG" "FIVE_PRIME_INTRON" "Unknown significance" "rs35375426" "This variant is a VUS because it does not have enough information."
416602 "chr19:10339653:C>T" "S1PR2" "NM_004230:c.-43+2227G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs374988732" "This variant is a VUS because it does not have enough information."
416603 "chr19:10339664:C>T" "S1PR2" "NM_004230:c.-43+2216G>A" "FIVE_PRIME_INTRON" "Benign" "rs143577024" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 11 1322 0.0083 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 12 5008 0.00239617
416604 "chr19:10339720:C>T" "S1PR2" "NM_004230:c.-43+2160G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs775372334" "This variant is a VUS because it does not have enough information."
416605 "chr19:10339737:G>A" "S1PR2" "NM_004230:c.-43+2143C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs560784084" "This variant is a VUS because it does not have enough information."
416606 "chr19:10339745:G>T" "S1PR2" "NM_004230:c.-43+2135C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs535277682" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416607 "chr19:10339775:->C" "S1PR2" "NM_004230:c.-43+2105_-43+2106insG" "FIVE_PRIME_INTRON" "Benign" "rs142165603" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 43 1322 0.0325 0 1006 0 0 694 0 0 1008 0 0 978 0 43 5008 0.00858626
416608 "chr19:10339802:C>T" "S1PR2" "NM_004230:c.-43+2078G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs557470871" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416609 "chr19:10339818:G>C" "S1PR2" "NM_004230:c.-43+2062C>G" "FIVE_PRIME_INTRON" "Benign" "rs7250265" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1202 1322 0.9092 818 1006 0.8131 562 694 0.8098 549 1008 0.5446 785 978 0.8027 3916 5008 0.781949
416610 "chr19:10339821:G>A" "S1PR2" "NM_004230:c.-43+2059C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs545796921" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 4 978 0.0041 4 5008 0.000798722
416611 "chr19:10339830:C>T" "S1PR2" "NM_004230:c.-43+2050G>A" "FIVE_PRIME_INTRON" "Benign" "rs114551434" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 24 1322 0.0182 1 1006 0.001 1 694 0.0014 0 1008 0 0 978 0 26 5008 0.00519169
416612 "chr19:10339841:C>T" "S1PR2" "NM_004230:c.-43+2039G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs573216653" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416613 "chr19:10339850:C>A" "S1PR2" "NM_004230:c.-43+2030G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs540495431" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416614 "chr19:10339880:A>G" "S1PR2" "NM_004230:c.-43+2000T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs192593260" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 3 1006 0.003 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722
416615 "chr19:10339890:C>T" "S1PR2" "NM_004230:c.-43+1990G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs751798874" "This variant is a VUS because it does not have enough information."
416616 "chr19:10339897:CTACCC>-" "S1PR2" "NM_004230:c.-43+1983_-43+1990delGGGTAG" "FIVE_PRIME_INTRON" "Unknown significance" "rs780597732" "This variant is a VUS because it does not have enough information."
416617 "chr19:10339943:G>T" "S1PR2" "NM_004230:c.-43+1937C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs77749851" "This variant is a VUS because it does not have enough information."
416618 "chr19:10339956:T>C" "S1PR2" "NM_004230:c.-43+1924A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs755880089" "This variant is a VUS because it does not have enough information."
416619 "chr19:10339958:T>C" "S1PR2" "NM_004230:c.-43+1922A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs75356939" "This variant is a VUS because it does not have enough information."
416620 "chr19:10339962:->A" "S1PR2" "NM_004230:c.-43+1918_-43+1919insT" "FIVE_PRIME_INTRON" "Unknown significance" "rs199954759" "This variant is a VUS because it does not have enough information."
416621 "chr19:10339969:->G" "S1PR2" "NM_004230:c.-43+1911_-43+1912insC" "FIVE_PRIME_INTRON" "Benign" "rs200170566" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 129 1322 0.0976 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 133 5008 0.0265575
416622 "chr19:10339971:A>T" "S1PR2" "NM_004230:c.-43+1909T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs147869829" "This variant is a VUS because it does not have enough information."
416623 "chr19:10339989:AG>-" "S1PR2" "NM_004230:c.-43+1891_-43+1894delCT" "FIVE_PRIME_INTRON" "Unknown significance" "rs768822440" "This variant is a VUS because it does not have enough information."
416624 "chr19:10339994:C>T" "S1PR2" "NM_004230:c.-43+1886G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs574208766" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416625 "chr19:10339996:C>T" "S1PR2" "NM_004230:c.-43+1884G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs544467962" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416626 "chr19:10340048:C>T" "S1PR2" "NM_004230:c.-43+1832G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs530876512" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416627 "chr19:10340112:C>T" "S1PR2" "NM_004230:c.-43+1768G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs766126825" "This variant is a VUS because it does not have enough information."
416628 "chr19:10340127:G>A" "S1PR2" "NM_004230:c.-43+1753C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs373143629" "This variant is a VUS because it does not have enough information."
416629 "chr19:10340146:A>G" "S1PR2" "NM_004230:c.-43+1734T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs530583034" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416630 "chr19:10340163:A>C" "S1PR2" "NM_004230:c.-43+1717T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs552221579" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416631 "chr19:10340239:T>C" "S1PR2" "NM_004230:c.-43+1641A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs184436365" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416632 "chr19:10340246:G>A" "S1PR2" "NM_004230:c.-43+1634C>T" "FIVE_PRIME_INTRON" "Benign" "rs55782435" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 102 1322 0.0772 187 1006 0.1859 110 694 0.1585 85 1008 0.0843 107 978 0.1094 591 5008 0.118011
416633 "chr19:10340257:C>T" "S1PR2" "NM_004230:c.-43+1623G>A" "FIVE_PRIME_INTRON" "Benign" "rs145727324" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 0 694 0 0 1008 0 0 978 0 7 5008 0.00139776
416634 "chr19:10340298:T>C" "S1PR2" "NM_004230:c.-43+1582A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs754930178" "This variant is a VUS because it does not have enough information."
416635 "chr19:10340353:C>T" "S1PR2" "NM_004230:c.-43+1527G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs189671716" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416636 "chr19:10340354:G>A" "S1PR2" "NM_004230:c.-43+1526C>T" "FIVE_PRIME_INTRON" "Benign" "rs111824963" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 59 1322 0.0446 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 60 5008 0.0119808
416637 "chr19:10340367:T>A" "S1PR2" "NM_004230:c.-43+1513A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs550457124" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416638 "chr19:10340373:A>G" "S1PR2" "NM_004230:c.-43+1507T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs142985955" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416639 "chr19:10340428:C>A" "S1PR2" "NM_004230:c.-43+1452G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs532179990" "This variant is a VUS because it does not have enough information."
416640 "chr19:10340435:C>A" "S1PR2" "NM_004230:c.-43+1445G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs758013813" "This variant is a VUS because it does not have enough information."
416641 "chr19:10340438:CAATAG>-" "S1PR2" "NM_004230:c.-43+1442_-43+1449delCTATTG" "FIVE_PRIME_INTRON" "Benign" "rs374951256" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1 1322 0.0008 10 1006 0.0099 4 694 0.0058 0 1008 0 0 978 0 15 5008 0.00299521
416642 "chr19:10340445:A>T" "S1PR2" "NM_004230:c.-43+1435T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs539513643" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416643 "chr19:10340450:T>C" "S1PR2" "NM_004230:c.-43+1430A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs557751193" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416644 "chr19:10340458:C>T" "S1PR2" "NM_004230:c.-43+1422G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs181314892" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416645 "chr19:10340471:C>G" "S1PR2" "NM_004230:c.-43+1409G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs186063665" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416646 "chr19:10340502:T>C" "S1PR2" "NM_004230:c.-43+1378A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs556064826" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416647 "chr19:10340517:C>G" "S1PR2" "NM_004230:c.-43+1363G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs574245775" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416648 "chr19:10340545:G>A" "S1PR2" "NM_004230:c.-43+1335C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs544790989" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416649 "chr19:10340634:G>C" "S1PR2" "NM_004230:c.-43+1246C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs189268563" "This variant is a VUS because it does not have enough information."
416650 "chr19:10340643:T>A" "S1PR2" "NM_004230:c.-43+1237A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs207477000" "This variant is a VUS because it does not have enough information."
416651 "chr19:10340654:->AATG" "S1PR2" "NM_004230:c.-43+1226_-43+1227insCATT" "FIVE_PRIME_INTRON" "Benign" "rs111954525" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 626 1322 0.4735 184 1006 0.1829 129 694 0.1859 85 1008 0.0843 108 978 0.1104 1132 5008 0.226038
416652 "chr19:10340654:AATG>-" "S1PR2" "NM_004230:c.-43+1226_-43+1231delCATT" "FIVE_PRIME_INTRON" "Unknown significance" "rs773144161" "This variant is a VUS because it does not have enough information."
416653 "chr19:10340666:->GAAT" "S1PR2" "NM_004230:c.-43+1214_-43+1215insATTC" "FIVE_PRIME_INTRON" "Unknown significance" "rs147120003" "This variant is a VUS because it does not have enough information."
416654 "chr19:10340680:T>-" "S1PR2" "NM_004230:c.-43+1200delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs34035640" "This variant is a VUS because it does not have enough information."
416655 "chr19:10340686:A>G" "S1PR2" "NM_004230:c.-43+1194T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs562909198" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 1 1006 0.001 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416656 "chr19:10340695:C>T" "S1PR2" "NM_004230:c.-43+1185G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs746712053" "This variant is a VUS because it does not have enough information."
416657 "chr19:10340698:G>A" "S1PR2" "NM_004230:c.-43+1182C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs151080390" "This variant is a VUS because it does not have enough information."
416658 "chr19:10340720:T>G" "S1PR2" "NM_004230:c.-43+1160A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs771298919" "This variant is a VUS because it does not have enough information."
416659 "chr19:10340738:C>T" "S1PR2" "NM_004230:c.-43+1142G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs776929631" "This variant is a VUS because it does not have enough information."
416660 "chr19:10340755:G>A" "S1PR2" "NM_004230:c.-43+1125C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs112557438" "This variant is a VUS because it does not have enough information." 0 1322 0 3 1006 0.003 1 694 0.0014 0 1008 0 1 978 0.001 5 5008 0.000998403
416661 "chr19:10340758:C>T" "S1PR2" "NM_004230:c.-43+1122G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs545944228" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416662 "chr19:10340793:A>C" "S1PR2" "NM_004230:c.-43+1087T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs564156321" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416663 "chr19:10340794:T>C" "S1PR2" "NM_004230:c.-43+1086A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs796643207" "This variant is a VUS because it does not have enough information."
416664 "chr19:10340818:C>A" "S1PR2" "NM_004230:c.-43+1062G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs528133889" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416665 "chr19:10340822:G>T" "S1PR2" "NM_004230:c.-43+1058C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs546276871" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416666 "chr19:10340854:A>C" "S1PR2" "NM_004230:c.-43+1026T>G" "FIVE_PRIME_INTRON" "Benign" "rs2033493" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1203 1322 0.91 820 1006 0.8151 562 694 0.8098 549 1008 0.5446 784 978 0.8016 3918 5008 0.782348
416667 "chr19:10340861:G>C" "S1PR2" "NM_004230:c.-43+1019C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs762967545" "This variant is a VUS because it does not have enough information."
416668 "chr19:10340864:G>A" "S1PR2" "NM_004230:c.-43+1016C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs62128727" "This variant is a VUS because it does not have enough information."
416669 "chr19:10340872:C>G" "S1PR2" "NM_004230:c.-43+1008G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs529136625" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416670 "chr19:10340888:C>G" "S1PR2" "NM_004230:c.-43+992G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs550766150" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 1 1008 0.001 2 978 0.002 5 5008 0.000998403
416671 "chr19:10340889:T>G" "S1PR2" "NM_004230:c.-43+991A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs568682360" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416672 "chr19:10340891:G>C" "S1PR2" "NM_004230:c.-43+989C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs539223876" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 1 1006 0.001 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416673 "chr19:10340894:T>A" "S1PR2" "NM_004230:c.-43+986A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs551493956" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416674 "chr19:10340896:G>A" "S1PR2" "NM_004230:c.-43+984C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs566615967" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416675 "chr19:10340897:G>C" "S1PR2" "NM_004230:c.-43+983C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs181868498" "This variant is a VUS because it does not have enough information."
416676 "chr19:10340907:T>G" "S1PR2" "NM_004230:c.-43+973A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs534244183" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416677 "chr19:10340912:A>G" "S1PR2" "NM_004230:c.-43+968T>C" "FIVE_PRIME_INTRON" "Benign" "rs2288937" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 102 1322 0.0772 187 1006 0.1859 110 694 0.1585 85 1008 0.0843 107 978 0.1094 591 5008 0.118011
416678 "chr19:10340918:G>T" "S1PR2" "NM_004230:c.-43+962C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs574282222" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416679 "chr19:10340931:C>T" "S1PR2" "NM_004230:c.-43+949G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs538131507" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 2 1008 0.002 0 978 0 3 5008 0.000599042
416680 "chr19:10340945:C>T" "S1PR2" "NM_004230:c.-43+935G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs549577177" "This variant is a VUS because it does not have enough information."
416681 "chr19:10340947:C>A" "S1PR2" "NM_004230:c.-43+933G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs556875566" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416682 "chr19:10340962:C>A" "S1PR2" "NM_004230:c.-43+918G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs578234027" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416683 "chr19:10340969:C>G" "S1PR2" "NM_004230:c.-43+911G>C" "FIVE_PRIME_INTRON" "Benign" "rs2288938" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 2 1006 0.002 0 694 0 50 1008 0.0496 5 978 0.0051 57 5008 0.0113818
416684 "chr19:10340992:A>G" "S1PR2" "NM_004230:c.-43+888T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs557932848" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416685 "chr19:10340994:C>A" "S1PR2" "NM_004230:c.-43+886G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs572927778" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416686 "chr19:10341009:T>A" "S1PR2" "NM_004230:c.-43+871A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs540234067" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416687 "chr19:10341011:C>G" "S1PR2" "NM_004230:c.-43+869G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs561491320" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416688 "chr19:10341033:C>T" "S1PR2" "NM_004230:c.-43+847G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs529208148" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416689 "chr19:10341059:G>A" "S1PR2" "NM_004230:c.-43+821C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs544207132" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416690 "chr19:10341071:G>A" "S1PR2" "NM_004230:c.-43+809C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs562425530" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 2 978 0.002 3 5008 0.000599042
416691 "chr19:10341072:A>G" "S1PR2" "NM_004230:c.-43+808T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs532998109" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416692 "chr19:10341078:G>A" "S1PR2" "NM_004230:c.-43+802C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs551155994" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416693 "chr19:10341081:G>T" "S1PR2" "NM_004230:c.-43+799C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs566624535" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416694 "chr19:10341082:C>A" "S1PR2" "NM_004230:c.-43+798G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs527740564" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416695 "chr19:10341085:C>A" "S1PR2" "NM_004230:c.-43+795G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs549382740" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416696 "chr19:10341090:C>G" "S1PR2" "NM_004230:c.-43+790G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs567584132" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416697 "chr19:10341096:G>C" "S1PR2" "NM_004230:c.-43+784C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs538224926" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 1 978 0.001 2 5008 0.000399361
416698 "chr19:10341101:G>-" "S1PR2" "NM_004230:c.-43+779delC" "FIVE_PRIME_INTRON" "Unknown significance" "rs766403532" "This variant is a VUS because it does not have enough information."
416699 "chr19:10341103:G>A" "S1PR2" "NM_004230:c.-43+777C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs774524685" "This variant is a VUS because it does not have enough information."
416700 "chr19:10341130:A>C" "S1PR2" "NM_004230:c.-43+750T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs755247837" "This variant is a VUS because it does not have enough information."
416701 "chr19:10341137:G>A" "S1PR2" "NM_004230:c.-43+743C>T" "FIVE_PRIME_INTRON" "Benign" "rs114399468" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 78 1322 0.059 0 1006 0 2 694 0.0029 0 1008 0 1 978 0.001 81 5008 0.0161741 3 14 0.214286 0 0 0 0 0 0 0 0 0 0 34 0 0 0 0 0 0 0 3 48 0.0625
416702 "chr19:10341158:G>A" "S1PR2" "NM_004230:c.-43+722C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs571967599" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416703 "chr19:10341197:C>A" "S1PR2" "NM_004230:c.-43+683G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs762005919" "This variant is a VUS because it does not have enough information."
416704 "chr19:10341198:C>T" "S1PR2" "NM_004230:c.-43+682G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs539239874" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416705 "chr19:10341212:C>G" "S1PR2" "NM_004230:c.-43+668G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs766181163" "This variant is a VUS because it does not have enough information."
416706 "chr19:10341226:G>A" "S1PR2" "NM_004230:c.-43+654C>T" "FIVE_PRIME_INTRON" "Benign" "rs57318514" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 46 1322 0.0348 0 1006 0 5 694 0.0072 0 1008 0 0 978 0 51 5008 0.0101837
416707 "chr19:10341299:C>T" "S1PR2" "NM_004230:c.-43+581G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs572911091" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416708 "chr19:10341318:G>T" "S1PR2" "NM_004230:c.-43+562C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs753521594" "This variant is a VUS because it does not have enough information."
416709 "chr19:10341322:G>A" "S1PR2" "NM_004230:c.-43+558C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs530120779" "This variant is a VUS because it does not have enough information."
416710 "chr19:10341332:C>A" "S1PR2" "NM_004230:c.-43+548G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs12983553" "This variant is a VUS because it does not have enough information."
416711 "chr19:10341337:C>G" "S1PR2" "NM_004230:c.-43+543G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs186315882" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416712 "chr19:10341337:C>T" "S1PR2" "NM_004230:c.-43+543G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs186315882" "This variant is a VUS because it does not have enough information."
416713 "chr19:10341340:C>T" "S1PR2" "NM_004230:c.-43+540G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs555418327" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416714 "chr19:10341351:T>G" "S1PR2" "NM_004230:c.-43+529A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs573587981" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416715 "chr19:10341362:A>T" "S1PR2" "NM_004230:c.-43+518T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs544185338" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416716 "chr19:10341368:C>T" "S1PR2" "NM_004230:c.-43+512G>A" "FIVE_PRIME_INTRON" "Benign" "rs10424806" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 353 1322 0.267 0 1006 0 14 694 0.0202 0 1008 0 0 978 0 367 5008 0.0732827
416717 "chr19:10341379:C>A" "S1PR2" "NM_004230:c.-43+501G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs537161875" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416718 "chr19:10341381:C>A" "S1PR2" "NM_004230:c.-43+499G>T" "FIVE_PRIME_INTRON" "Benign" "rs192024884" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 0 694 0 0 1008 0 0 978 0 7 5008 0.00139776
416719 "chr19:10341389:G>C" "S1PR2" "NM_004230:c.-43+491C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs559878273" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416720 "chr19:10341409:A>T" "S1PR2" "NM_004230:c.-43+471T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs182609837" "This variant is a VUS because it does not have enough information."
416721 "chr19:10341415:G>A" "S1PR2" "NM_004230:c.-43+465C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs527462330" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416722 "chr19:10341438:C>T" "S1PR2" "NM_004230:c.-43+442G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs549247073" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 1 1006 0.001 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
416723 "chr19:10341439:G>A" "S1PR2" "NM_004230:c.-43+441C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs567741812" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416724 "chr19:10341456:G>A" "S1PR2" "NM_004230:c.-43+424C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs531656170" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 1 1008 0.001 0 978 0 3 5008 0.000599042
416725 "chr19:10341459:G>A" "S1PR2" "NM_004230:c.-43+421C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs146944870" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416726 "chr19:10341466:C>T" "S1PR2" "NM_004230:c.-43+414G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs571979609" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416727 "chr19:10341474:C>G" "S1PR2" "NM_004230:c.-43+406G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs539304898" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416728 "chr19:10341488:G>T" "S1PR2" "NM_004230:c.-43+392C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs765046268" "This variant is a VUS because it does not have enough information."
416729 "chr19:10341490:C>G" "S1PR2" "NM_004230:c.-43+390G>C" "FIVE_PRIME_INTRON" "Benign" "rs554428190" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 13 1322 0.0098 0 1006 0 0 694 0 0 1008 0 0 978 0 13 5008 0.00259585
416730 "chr19:10341517:C>G" "S1PR2" "NM_004230:c.-43+363G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs566170056" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416731 "chr19:10341524:C>G" "S1PR2" "NM_004230:c.-43+356G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs536835796" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416732 "chr19:10341526:G>A" "S1PR2" "NM_004230:c.-43+354C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs796377092" "This variant is a VUS because it does not have enough information."
416733 "chr19:10341539:T>C" "S1PR2" "NM_004230:c.-43+341A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs555211102" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416734 "chr19:10341542:C>-" "S1PR2" "NM_004230:c.-43+338delG" "FIVE_PRIME_INTRON" "Unknown significance" "rs767727256" "This variant is a VUS because it does not have enough information."
416735 "chr19:10341548:C>A" "S1PR2" "NM_004230:c.-43+332G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs573674327" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416736 "chr19:10341548:C>G" "S1PR2" "NM_004230:c.-43+332G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs573674327" "This variant is a VUS because it does not have enough information."
416737 "chr19:10341553:A>C" "S1PR2" "NM_004230:c.-43+327T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs62128749" "This variant is a VUS because it does not have enough information."
416738 "chr19:10341583:A>C" "S1PR2" "NM_004230:c.-43+297T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs537448322" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416739 "chr19:10341601:A>G" "S1PR2" "NM_004230:c.-43+279T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs555697346" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416740 "chr19:10341603:G>C" "S1PR2" "NM_004230:c.-43+277C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs577530071" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416741 "chr19:10341615:A>G" "S1PR2" "NM_004230:c.-43+265T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs544932785" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416742 "chr19:10341616:A>G" "S1PR2" "NM_004230:c.-43+264T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs560381580" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416743 "chr19:10341624:G>C" "S1PR2" "NM_004230:c.-43+256C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs572190996" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416744 "chr19:10341638:C>A" "S1PR2" "NM_004230:c.-43+242G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs542807446" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
416745 "chr19:10341639:C>T" "S1PR2" "NM_004230:c.-43+241G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs2288939" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416746 "chr19:10341643:C>T" "S1PR2" "NM_004230:c.-43+237G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs777469644" "This variant is a VUS because it does not have enough information."
416747 "chr19:10341644:G>A" "S1PR2" "NM_004230:c.-43+236C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs531790156" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416748 "chr19:10341658:G>A" "S1PR2" "NM_004230:c.-43+222C>T" "FIVE_PRIME_INTRON" "Benign" "rs2288940" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 189 1322 0.143 223 1006 0.2217 243 694 0.3501 236 1008 0.2341 256 978 0.2618 1147 5008 0.229034
416749 "chr19:10341663:G>C" "S1PR2" "NM_004230:c.-43+217C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs565252331" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361
416750 "chr19:10341666:A>G" "S1PR2" "NM_004230:c.-43+214T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs532526547" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416751 "chr19:10341670:G>A" "S1PR2" "NM_004230:c.-43+210C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs548141171" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
416752 "chr19:10341675:G>C" "S1PR2" "NM_004230:c.-43+205C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs566353132" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
416753 "chr19:10341676:C>T" "S1PR2" "NM_004230:c.-43+204G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs536491421" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416754 "chr19:10341694:G>A" "S1PR2" "NM_004230:c.-43+186C>T" "FIVE_PRIME_INTRON" "Benign" "rs185985023" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 7 1006 0.007 3 694 0.0043 0 1008 0 17 978 0.0174 27 5008 0.00539137
416755 "chr19:10341695:G>C" "S1PR2" "NM_004230:c.-43+185C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs567256403" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416756 "chr19:10341699:A>G" "S1PR2" "NM_004230:c.-43+181T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs377560483" "This variant is a VUS because it does not have enough information."
416757 "chr19:10341704:G>A" "S1PR2" "NM_004230:c.-43+176C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs112385110" "This variant is a VUS because it does not have enough information."
416758 "chr19:10341710:G>A" "S1PR2" "NM_004230:c.-43+170C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs780899568" "This variant is a VUS because it does not have enough information."
416759 "chr19:10341719:A>G" "S1PR2" "NM_004230:c.-43+161T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs537511244" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 1 978 0.001 2 5008 0.000399361
416760 "chr19:10341720:T>C" "S1PR2" "NM_004230:c.-43+160A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs555760354" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
416761 "chr19:10341734:G>A" "S1PR2" "NM_004230:c.-43+146C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs191380465" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403
416762 "chr19:10341759:G>T" "S1PR2" "NM_004230:c.-43+121C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs538239009" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
416763 "chr19:10341762:G>A" "S1PR2" "NM_004230:c.-43+118C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs553830481" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
416764 "chr19:10341873:C>A" "S1PR2" "NM_004230:c.-43+7G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs569468909" "This variant is a VUS because it does not have enough information."
416765 "chr19:10341915:A>G" "S1PR2" "NM_004230:c.-78T>C" "FIVE_PRIME_EXON" "Benign" "rs572259005" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 12 1322 0.0091 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 13 5008 0.00259585
416766 "chr19:10341916:G>A" "S1PR2" "NM_004230:c.-79C>T" "FIVE_PRIME_EXON" "Benign" "rs542466473" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 12 1322 0.0091 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 13 5008 0.00259585