Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-14730280-C-A p.Asp642Tyr missense EMR3 1 82066 1.21853E-5 41033 0 6.37105E-5
19-14730284-C-A c.1921-1G>T splice_acceptor EMR3 5 82012 6.09667E-5 41006 0 2.4825E-5
19-14736303-C-G c.1920+1G>C splice_donor EMR3 1 83232 1.20146E-5 41616 0 7.9701E-6
19-14736307-A-G p.Ser639Ser synonymous EMR3 3 83236 3.60421E-5 41618 0 8.24076E-6
19-14736316-T-C p.Ser636Ser synonymous EMR3 5452 83104 0.0656045 41552 208 0.0888993
19-14736326-C-T p.Gly633Asp missense EMR3 631 83264 0.0075783 41632 2 0.0149786
19-14736334-G-T p.Ser630Arg missense EMR3 1 83272 1.20088E-5 41636 0 3.18552E-5
19-14736344-G-A p.Thr627Ile missense EMR3 1 83280 1.20077E-5 41640 0 8.23764E-6
19-14736352-C-T p.Glu624Glu synonymous EMR3 1 83276 1.20083E-5 41638 0 3.18532E-5
19-14736355-A-G p.Ser623Ser synonymous EMR3 1 83278 1.2008E-5 41639 0 3.18471E-5
19-14736364-T-C p.Lys620Lys synonymous EMR3 2 83278 2.40159E-5 41639 0 NA
19-14736369-A-AT p.Ser619fs frameshift EMR3 1 83266 1.20097E-5 41633 0 NA
19-14736370-T-C p.Lys618Lys synonymous EMR3 2 83268 2.40188E-5 41634 0 NA
19-14736375-C-T p.Val617Ile missense EMR3 2 83258 2.40217E-5 41629 0 4.94283E-5
19-14736376-G-A p.Ile616Ile synonymous EMR3 4 83260 4.80423E-5 41630 0 4.37605E-5
19-14736376-G-T p.Ile616Ile synonymous EMR3 10 83260 1.20106E-4 41630 0 0.00352467
19-14736381-C-T p.Glu615Lys missense EMR3 5 83244 6.00644E-5 41622 0 4.77487E-5
19-14736393-T-C p.Lys611Glu missense EMR3 8 83196 9.61585E-5 41598 0 2.86624E-4
19-14736406-C-T p.Gln606Gln synonymous EMR3 1 83118 1.20311E-5 41559 0 1.64957E-5
19-14736413-T-C c.1813-2A>G splice_acceptor EMR3 1 83058 1.20398E-5 41529 0 NA
19-14740854-C-A p.Gln603His missense EMR3 1 82508 1.212E-5 41254 0 1.23024E-5
19-14740855-TGGCTGAGGA-T p.Leu600_Ser602del disruptive_inframe_deletion EMR3 6 82538 7.26938E-5 41269 0 3.66752E-4
19-14740861-AGGAGGCAGT-A p.Tyr598_Leu601delinsPhe disruptive_inframe_deletion EMR3 5 82644 6.05005E-5 41322 0 1.01601E-4
19-14740872-G-A p.Val597Val synonymous EMR3 1 82778 1.20805E-5 41389 0 NA
19-14740874-C-T p.Val597Ile missense EMR3 2 82774 2.41622E-5 41387 0 NA
19-14740890-G-A p.Gly591Gly synonymous EMR3 1 82928 1.20587E-5 41464 0 NA
19-14740893-T-C p.Gln590Gln synonymous EMR3 1 82948 1.20557E-5 41474 0 NA
19-14740899-G-T p.Ser588Arg missense EMR3 8 82992 9.63948E-5 41496 0 9.55718E-5
19-14740903-TTGA-T p.Ile586del disruptive_inframe_deletion EMR3 3 83002 3.61437E-5 41501 0 9.55779E-5
19-14740905-G-A p.Ile586Ile synonymous EMR3 2 82994 2.40981E-5 41497 0 7.96832E-6
19-14740906-A-T p.Ile586Asn missense EMR3 1 82992 1.20494E-5 41496 0 3.98403E-6
19-14740942-G-A p.Pro574Leu missense EMR3 538 83006 0.00648146 41503 6 0.014808
19-14740959-G-A p.Gly568Gly synonymous EMR3 1 83042 1.20421E-5 41521 0 0.001875
19-14740960-C-T p.Gly568Asp missense EMR3 1 83040 1.20424E-5 41520 0 1.73227E-4
19-14740971-T-C p.Thr564Thr synonymous EMR3 1 82992 1.20494E-5 41496 0 3.3018E-5
19-14740974-G-A p.Cys563Cys synonymous EMR3 152 82976 0.00183186 41488 0 0.013125
19-14740984-A-C p.Ile560Ser missense EMR3 2 82908 2.41231E-5 41454 0 3.18451E-5
19-14741000-T-C p.Thr555Ala missense EMR3 1 82482 1.21239E-5 41241 0 3.678E-5
19-14741011-G-A p.Ala551Val missense EMR3 1 82316 1.21483E-5 41158 0 1.27445E-4
19-14741015-G-C p.Leu550Val missense EMR3 1 82248 1.21584E-5 41124 0 NA
19-14741018-T-C p.Met549Val missense+splice_region EMR3 4 82202 4.86606E-5 41101 0 8.18518E-6
19-14741019-C-G p.Arg548Ser missense+splice_region EMR3 1 82120 1.21773E-5 41060 0 NA
19-14741022-G-C c.1644-3C>G splice_region EMR3 1 82124 1.21767E-5 41062 0 8.43868E-6
19-14743761-TA-T p.Asn538fs frameshift EMR3 15 83258 1.80163E-4 41629 0 1.27413E-4
19-14743763-T-C p.Asn538Ser missense EMR3 2 83256 2.40223E-5 41628 0 8.25478E-6
19-14743769-G-C p.Ser536Cys missense EMR3 7 83266 8.40679E-5 41633 0 6.25E-4
19-14743791-T-G p.Ile529Leu missense EMR3 154 83254 0.00184976 41627 0 0.00161524
19-14743803-A-G p.Leu525Leu synonymous EMR3 2 83226 2.4031E-5 41613 0 NA
19-14743808-A-C p.Phe523Cys missense EMR3 64 83196 7.69268E-4 41598 0 0.00302115
19-14743810-C-A p.Leu522Phe missense EMR3 1 83186 1.20213E-5 41593 0 8.32431E-6
19-14743822-C-T p.Ala518Ala splice_region+synonymous EMR3 1 83092 1.20349E-5 41546 0 8.41015E-6
19-14743827-G-T c.1552-3C>A splice_region EMR3 1 83044 1.20418E-5 41522 0 1.99321E-5
19-14744031-CGAAGGCACATACTCACAGA-C p.Ser517del splice_donor EMR3 5 82974 6.02598E-5 41487 0 3.21499E-5
19-14744041-TACTC-T c.1551+3_1551+6delGAGT splice_region EMR3 1 83036 1.2043E-5 41518 0 1.7824E-5
19-14744055-A-G p.Ile515Thr missense EMR3 21 83090 2.52738E-4 41545 0 1.96077E-4
19-14744056-T-C p.Ile515Val missense EMR3 1 83092 1.20349E-5 41546 0 NA
19-14744066-T-C p.Pro511Pro synonymous EMR3 1 83124 1.20302E-5 41562 0 4.00307E-6
19-14748909-A-C c.1484+8T>G splice_region EMR3 1 82688 1.20937E-5 41344 0 3.18532E-5
19-14748916-C-T c.1484+1G>A splice_donor EMR3 2 82800 2.41546E-5 41400 0 NA
19-14748918-G-A p.Arg495* stop_gained EMR3 14 82800 1.69082E-4 41400 0 0.00125
19-14748921-C-T p.Asp494Asn missense EMR3 1 82854 1.20694E-5 41427 0 NA
19-14748926-G-C p.Thr492Ser missense EMR3 1 82940 1.20569E-5 41470 0 NA
19-14748936-G-A p.Leu489Phe missense EMR3 27 83012 3.25254E-4 41506 0 0.00113851
19-14748937-G-C p.His488Gln missense EMR3 3 83014 3.61385E-5 41507 0 3.18634E-5
19-14748937-G-A p.His488His synonymous EMR3 5 83012 6.02323E-5 41506 0 3.29614E-5
19-14748943-C-G p.Trp486Cys missense EMR3 1 83038 1.20427E-5 41519 0 3.97997E-6
19-14748944-C-T p.Trp486* stop_gained EMR3 2 83056 2.40801E-5 41528 0 3.18573E-5
19-14748948-A-G p.Ser485Pro missense EMR3 1 83112 1.2032E-5 41556 0 NA
19-14748975-C-T p.Ala476Thr missense EMR3 61 83224 7.32962E-4 41612 0 0.0015617
19-14748976-G-A p.Pro475Pro synonymous EMR3 1 83234 1.20143E-5 41617 0 8.23696E-5
19-14748981-C-T p.Val474Ile missense EMR3 5 83244 6.00644E-5 41622 0 2.14154E-4
19-14748990-C-T p.Gly471Ser missense EMR3 2 83256 2.40223E-5 41628 0 1.98885E-5
19-14748991-G-A p.Val470Val synonymous EMR3 6 83258 7.20651E-5 41629 0 6.37389E-5
19-14748999-A-G p.Phe468Leu missense EMR3 1 83272 1.20088E-5 41636 0 NA
19-14749001-A-G p.Met467Thr missense EMR3 3 83272 3.60265E-5 41636 0 5.09684E-4
19-14749002-T-C p.Met467Val missense EMR3 2 83272 2.40177E-5 41636 0 NA
19-14749007-C-T p.Trp465* stop_gained EMR3 1 83276 1.20083E-5 41638 0 8.23683E-6
19-14749010-T-C p.Lys464Arg missense EMR3 2 83282 2.40148E-5 41641 0 NA
19-14749037-T-A p.Asn455Ile missense EMR3 2 83282 2.40148E-5 41641 0 1.59123E-5
19-14749038-T-C p.Asn455Asp missense EMR3 2 83284 2.40142E-5 41642 0 3.97795E-6
19-14749055-C-T p.Arg449Gln missense EMR3 1 83258 1.20109E-5 41629 0 0.0025
19-14749056-G-A p.Arg449Trp missense EMR3 49 83254 5.8856E-4 41627 0 0.00125
19-14749077-C-T p.Val442Met missense EMR3 1 83222 1.20161E-5 41611 0 3.18613E-5
19-14749104-C-T p.Ala433Thr missense EMR3 15 83116 1.80471E-4 41558 0 6.37064E-5
19-14749105-G-A p.Ala432Ala synonymous EMR3 3 83134 3.60863E-5 41567 0 3.18634E-5
19-14749112-TAG-T p.Tyr430fs frameshift EMR3 2 83116 2.40628E-5 41558 0 NA
19-14749117-A-T p.Tyr428* stop_gained EMR3 1 83114 1.20317E-5 41557 0 3.18563E-5
19-14749129-A-G p.Gly424Gly synonymous EMR3 1 83024 1.20447E-5 41512 0 NA
19-14749131-C-T p.Gly424Ser missense EMR3 123 83016 0.00148164 41508 5 0.00392906
19-14749132-G-A p.Ala423Ala synonymous EMR3 17 83020 2.0477E-4 41510 0 0.00125
19-14749134-C-T p.Ala423Thr missense EMR3 13 82996 1.56634E-4 41498 0 3.988E-5
19-14749134-C-A p.Ala423Ser missense EMR3 2 82996 2.40975E-5 41498 0 NA
19-14749135-G-A p.Ile422Ile synonymous EMR3 1 83010 1.20467E-5 41505 0 8.28363E-6
19-14749141-G-A p.Ser420Ser synonymous EMR3 2 82990 2.40993E-5 41495 0 NA
19-14749159-G-A c.1249-7C>T splice_region EMR3 2 82792 2.41569E-5 41396 0 3.18471E-5
19-14752228-T-C c.1248+3A>G splice_region EMR3 3 82832 3.62179E-5 41416 0 NA
19-14752235-G-A p.Pro415Leu missense EMR3 1 82950 1.20555E-5 41475 0 NA
19-14752235-G-T p.Pro415His missense EMR3 1 82950 1.20555E-5 41475 0 8.24022E-6
19-14752238-T-C p.Glu414Gly missense EMR3 1 82978 1.20514E-5 41489 0 NA
19-14752240-A-G p.Thr413Thr synonymous EMR3 2 83008 2.40941E-5 41504 0 NA
19-14752244-C-T p.Arg412Gln missense EMR3 3 83048 3.61237E-5 41524 0 1.59256E-4
19-14752248-C-A p.Asp411Tyr missense EMR3 6 83108 7.21952E-5 41554 0 0.001875
19-14752250-A-G p.Ile410Thr missense EMR3 1 83134 1.20288E-5 41567 0 1.27389E-4
19-14752251-TC-T p.Ile410fs frameshift EMR3 1 83124 1.20302E-5 41562 0 NA
19-14752256-A-ACGAGGAAGAGGAGGTGGG p.Ala402_Leu407dup conservative_inframe_insertion EMR3 1 83144 1.20273E-5 41572 0 3.97817E-6
19-14752257-C-T p.Val408Met missense EMR3 2 83148 2.40535E-5 41574 0 1.19357E-5
19-14752258-G-A p.Leu407Leu synonymous EMR3 3 83144 3.6082E-5 41572 0 6.37105E-5
19-14752261-G-C p.Phe406Leu missense EMR3 2 83160 2.405E-5 41580 0 NA
19-14752269-G-T p.Leu404Ile missense EMR3 2 83170 2.40471E-5 41585 1 NA
19-14752274-G-T p.Ala402Asp missense EMR3 1 83132 1.20291E-5 41566 0 NA
19-14752292-G-T p.Ser396* stop_gained EMR3 1 83134 1.20288E-5 41567 0 NA
19-14752292-G-A p.Ser396Leu missense EMR3 1 83134 1.20288E-5 41567 0 3.18471E-5
19-14752305-G-A p.His392Tyr missense EMR3 2 83114 2.40633E-5 41557 0 9.55657E-5
19-14752319-G-A p.Thr387Ile missense EMR3 2 83084 2.4072E-5 41542 0 7.96261E-6
19-14752321-G-A p.Asn386Asn synonymous EMR3 1 83070 1.2038E-5 41535 0 NA
19-14752322-T-C p.Asn386Ser missense EMR3 1 83070 1.2038E-5 41535 0 NA
19-14752325-C-T p.Arg385Gln missense EMR3 68811 80942 0.850127 40471 29287 0.924375
19-14752344-G-C p.Leu379Val missense EMR3 1020 82988 0.0122909 41494 13 0.0226586
19-14752357-C-T p.Ala374Ala synonymous EMR3 26 82970 3.13366E-4 41485 1 2.97152E-4
19-14752358-G-A p.Ala374Val missense EMR3 9 82966 1.08478E-4 41483 0 6.37064E-5
19-14752364-AG-A p.Leu372fs frameshift EMR3 1 82998 1.20485E-5 41499 0 NA
19-14752383-C-T p.Val366Ile missense EMR3 1 83018 1.20456E-5 41509 0 3.18768E-5
19-14752384-G-A p.Ser365Ser synonymous EMR3 15 83004 1.80714E-4 41502 0 3.30781E-5
19-14752386-T-C p.Ser365Gly missense EMR3 3 83000 3.61446E-5 41500 0 8.27198E-6
19-14752390-C-T p.Gly363Gly synonymous EMR3 1 82982 1.20508E-5 41491 0 7.9727E-6
19-14752395-C-T p.Val362Met missense EMR3 252 82932 0.00303863 41466 2 0.008125
19-14752396-G-A p.Tyr361Tyr synonymous EMR3 2 82964 2.41068E-5 41482 0 9.11592E-5
19-14752417-G-A p.Pro354Pro synonymous EMR3 41 82584 4.96464E-4 41292 0 0.00130623
19-14752418-G-A p.Pro354Leu missense EMR3 1 82568 1.21112E-5 41284 0 NA
19-14752436-C-T c.1051-8G>A splice_region EMR3 4 82154 4.8689E-5 41077 0 8.26295E-5
19-14754917-T-C c.1050+3A>G splice_region EMR3 2 81872 2.44284E-5 40936 0 8.96379E-6
19-14754919-C-A c.1050+1G>T splice_donor EMR3 1 81830 1.22205E-5 40915 0 NA
19-14754933-G-A p.Ala346Val missense EMR3 3 82524 3.63531E-5 41262 0 6.43376E-5
19-14754946-C-T p.Ala342Thr missense EMR3 4 82790 4.8315E-5 41395 0 7.84286E-5
19-14754947-G-A p.Phe341Phe synonymous EMR3 3 82806 3.62293E-5 41403 0 3.21419E-5
19-14754968-A-G p.Asn334Asn synonymous EMR3 1 83026 1.20444E-5 41513 0 NA
19-14754974-C-T p.Met332Ile missense EMR3 1 83094 1.20346E-5 41547 0 1.68265E-5
19-14754983-A-G p.Ser329Ser synonymous EMR3 6 83146 7.21622E-5 41573 0 NA
19-14754984-C-T p.Ser329Asn missense EMR3 1 83148 1.20267E-5 41574 0 NA
19-14754985-T-G p.Ser329Arg missense EMR3 1 83150 1.20265E-5 41575 0 NA
19-14754990-T-G p.Asn327Thr missense EMR3 1 83150 1.20265E-5 41575 0 NA
19-14754994-C-T p.Val326Met missense EMR3 1 83154 1.20259E-5 41577 0 4.16729E-5
19-14754995-G-C p.His325Gln missense EMR3 1 83156 1.20256E-5 41578 0 8.33236E-6
19-14754995-G-A p.His325His synonymous EMR3 1 83156 1.20256E-5 41578 0 4.05328E-6
19-14755002-A-G p.Leu323Pro missense EMR3 175 83146 0.00210473 41573 1 0.00261305
19-14755003-G-A p.Leu323Leu synonymous EMR3 1 83150 1.20265E-5 41575 0 8.32002E-6
19-14755011-C-G p.Gly320Ala missense EMR3 8 83120 9.62464E-5 41560 0 NA
19-14755016-C-T p.Arg318Arg synonymous EMR3 1 83116 1.20314E-5 41558 0 NA
19-14755035-TG-T p.Gln312fs frameshift EMR3 18 83140 2.16502E-4 41570 1 5.05561E-4
19-14755036-G-T p.Gln312Lys missense EMR3 2 83118 2.40622E-5 41559 0 1.16959E-4
19-14755041-G-A p.Thr310Ile missense EMR3 1 83082 1.20363E-5 41541 0 1.68786E-5
19-14755055-G-C p.Val305Val synonymous EMR3 1 83010 1.20467E-5 41505 0 4.53087E-6
19-14755057-C-A p.Val305Phe missense EMR3 2 82908 2.41231E-5 41454 0 8.4488E-6
19-14755075-T-G p.Thr299Pro missense EMR3 1 82440 1.213E-5 41220 0 8.53213E-6
19-14755079-G-A p.Pro297Pro synonymous EMR3 22 82284 2.67367E-4 41142 0 8.37521E-4
19-14755088-C-A c.883-1G>T splice_acceptor EMR3 3 81708 3.67161E-5 40854 0 NA
19-14757992-C-T c.882+1G>A splice_donor EMR3 3 83182 3.60655E-5 41591 0 9.11411E-5
19-14757998-C-T p.Val293Met missense EMR3 4 83196 4.80792E-5 41598 0 7.17921E-5
19-14757999-G-A p.His292His synonymous EMR3 3 83206 3.60551E-5 41603 0 6.37877E-5
19-14758033-G-A p.Ser281Phe missense EMR3 5 83324 6.00067E-5 41662 0 1.19354E-5
19-14758037-C-T p.Val280Met missense EMR3 4 83322 4.80065E-5 41661 0 2.78485E-5
19-14758044-T-G p.Lys277Asn missense EMR3 1 83340 1.1999E-5 41670 0 3.19326E-5
19-14758050-T-C p.Gly275Gly synonymous EMR3 1 83330 1.20005E-5 41665 0 7.95627E-6
19-14758071-C-A p.Gln268His missense EMR3 1 83324 1.20013E-5 41662 0 3.97776E-6
19-14758080-C-G p.Leu265Leu synonymous EMR3 1 83322 1.20016E-5 41661 0 NA
19-14758085-A-G p.Tyr264His missense EMR3 1 83308 1.20036E-5 41654 0 NA
19-14758088-C-T p.Val263Met missense EMR3 8 83304 9.60338E-5 41652 0 5.10009E-4
19-14758090-T-C p.Gln262Arg missense EMR3 2 83294 2.40113E-5 41647 0 8.23778E-5
19-14758094-C-T p.Asp261Asn missense EMR3 2 83288 2.40131E-5 41644 0 NA
19-14758112-C-CA p.Glu255fs frameshift EMR3 1 83248 1.20123E-5 41624 0 3.24444E-5
19-14758117-A-G p.Phe253Ser missense EMR3 1 83260 1.20106E-5 41630 0 NA
19-14758118-A-T p.Phe253Ile missense EMR3 3 83262 3.60308E-5 41631 0 3.18654E-5
19-14758119-A-G p.Thr252Thr synonymous EMR3 9 83254 1.08103E-4 41627 0 3.58166E-5
19-14758133-T-C p.Ile248Val missense EMR3 1 83232 1.20146E-5 41616 0 NA
19-14758135-T-C p.Asn247Ser missense EMR3 2 83230 2.40298E-5 41615 0 8.2428E-5
19-14758139-C-T p.Gly246Arg missense EMR3 1 83220 1.20163E-5 41610 0 3.29761E-5
19-14758149-A-G p.Tyr242Tyr synonymous EMR3 1 83182 1.20218E-5 41591 0 1.1946E-5
19-14758162-G-A p.Ala238Val missense EMR3 3 83098 3.6102E-5 41549 0 8.25191E-6
19-14758168-G-A p.Ala236Val missense EMR3 24548 79914 0.30718 39957 3446 0.408266
19-14761893-A-G c.697+4T>C splice_region EMR3 23 82964 2.77229E-4 41482 0 6.68918E-4
19-14761894-T-C c.697+3A>G splice_region EMR3 1 82968 1.20528E-5 41484 0 3.98375E-6
19-14761902-G-C p.Thr231Arg missense EMR3 1 83070 1.2038E-5 41535 0 NA
19-14761904-G-A p.Asp230Asp synonymous EMR3 3 83070 3.61141E-5 41535 0 3.98267E-5
19-14761912-G-A p.Gln228* stop_gained EMR3 1 83122 1.20305E-5 41561 0 NA
19-14761918-T-C p.Ile226Val missense EMR3 5 83136 6.01424E-5 41568 1 1.65481E-5
19-14761919-G-A p.Asp225Asp synonymous EMR3 1 83144 1.20273E-5 41572 0 2.48196E-5
19-14761923-C-T p.Ser224Asn missense EMR3 18 83150 2.16476E-4 41575 0 6.69131E-4
19-14761929-C-T p.Arg222His missense EMR3 2 83148 2.40535E-5 41574 0 2.47979E-5
19-14761930-G-A p.Arg222Cys missense EMR3 1 83156 1.20256E-5 41578 0 2.23086E-4
19-14761940-T-C p.Ser218Ser synonymous EMR3 1 83174 1.2023E-5 41587 0 NA
19-14761943-G-A p.Asn217Asn synonymous EMR3 1 83174 1.2023E-5 41587 0 3.98016E-6
19-14761949-T-C p.Gln215Gln synonymous EMR3 2 83186 2.40425E-5 41593 0 NA
19-14761953-A-G p.Val214Ala missense EMR3 1 83182 1.20218E-5 41591 0 NA
19-14761955-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain EMR3 1 83180 1.20221E-5 41590 0 9.56023E-5
19-14761961-G-A p.Asn211Asn synonymous EMR3 1 83198 1.20195E-5 41599 0 NA
19-14761962-T-C p.Asn211Ser missense EMR3 5 83194 6.01005E-5 41597 0 4.77582E-5
19-14761986-C-A p.Cys203Phe missense EMR3 1 83132 1.20291E-5 41566 0 NA
19-14761987-A-G p.Cys203Arg missense EMR3 1 83128 1.20296E-5 41564 0 3.98023E-6
19-14761998-A-AGACAATG p.Ile199fs frameshift EMR3 3 83068 3.6115E-5 41534 0 3.18593E-5
19-14762000-C-T p.Ala198Ala synonymous EMR3 20 83052 2.40813E-4 41526 0 6.69173E-4
19-14762001-GC-TA p.Ala198* stop_gained EMR3 3 83052 3.61219E-5 41526 0 NA
19-14762016-G-GCTCTTTC c.578-1_578insGAAAGAG splice_acceptor EMR3 1 82942 1.20566E-5 41471 0 NA
19-14762020-G-GATTTTCAGGACTTTTTGTTCTGGA c.578-5_578-4insTCCAGAACAAAAAGTCCTGAAAAT splice_region EMR3 1 82876 1.20662E-5 41438 0 NA
19-14765793-C-G c.577+1G>C splice_donor EMR3 1 83206 1.20184E-5 41603 0 NA
19-14765795-T-C p.Val192Val splice_region+synonymous EMR3 3 83230 3.60447E-5 41615 0 NA
19-14765801-A-C p.Asp190Glu missense EMR3 9 83260 1.08095E-4 41630 0 1.19497E-5
19-14765803-C-T p.Asp190Asn missense EMR3 2 83262 2.40206E-5 41631 0 8.27486E-6
19-14765804-G-A p.Asn189Asn synonymous EMR3 3 83262 3.60308E-5 41631 0 8.27048E-5
19-14765811-A-AT p.Ile187fs frameshift EMR3 1 83276 1.20083E-5 41638 0 3.98172E-6
19-14765812-T-A p.Ile187Phe missense EMR3 1 83282 1.20074E-5 41641 0 8.25423E-6
19-14765821-C-T p.Val184Ile missense EMR3 1 83292 1.2006E-5 41646 0 NA
19-14765837-T-G p.Lys178Asn missense EMR3 4 83288 4.80261E-5 41644 0 8.24144E-6
19-14765840-C-G p.Leu177Phe missense EMR3 1 83292 1.2006E-5 41646 0 8.2409E-6
19-14765845-C-T p.Ala176Thr missense EMR3 2 83296 2.40108E-5 41648 0 NA
19-14765861-C-T p.Ser170Ser synonymous EMR3 4 83294 4.80227E-5 41647 0 1.6478E-5
19-14765862-G-A p.Ser170Leu missense EMR3 2 83294 2.40113E-5 41647 0 3.18532E-5
19-14765869-C-A p.Val168Leu missense EMR3 1 83296 1.20054E-5 41648 0 NA
19-14765874-C-A p.Arg166Leu missense EMR3 3 83294 3.6017E-5 41647 0 NA
19-14765874-C-T p.Arg166Gln missense EMR3 15 83294 1.80085E-4 41647 0 2.22902E-4
19-14765911-T-G p.Arg154Arg synonymous EMR3 17 83210 2.04302E-4 41605 0 0.0015121
19-14765913-C-G p.Gly153Ala missense EMR3 1 83208 1.20181E-5 41604 0 NA
19-14765922-C-T p.Arg150Lys missense EMR3 2 83176 2.40454E-5 41588 0 1.67191E-4
19-14765926-A-G p.Trp149Arg missense EMR3 5 83162 6.01236E-5 41581 0 NA
19-14765951-C-T p.Glu140Glu synonymous EMR3 2 83074 2.40749E-5 41537 0 6.36943E-5
19-14765966-A-G p.Ile135Ile synonymous EMR3 1 82992 1.20494E-5 41496 0 NA
19-14765967-A-G p.Ile135Thr missense EMR3 2 82984 2.4101E-5 41492 0 NA
19-14765969-C-A p.Lys134Asn missense EMR3 3 82962 3.61611E-5 41481 0 9.55292E-5
19-14765977-G-A p.Leu132Leu splice_region+synonymous EMR3 1 82884 1.20651E-5 41442 0 2.07192E-5
19-14765977-G-T p.Leu132Met missense+splice_region EMR3 1 82884 1.20651E-5 41442 0 NA
19-14769284-T-A c.-69+8A>T splice_region EMR3 7 78312 8.9386E-5 39156 0 8.35562E-6
19-14769317-C-T c.393+8G>A splice_region EMR3 1 80990 1.23472E-5 40495 0 NA
19-14769320-C-T c.-97G>A 5_prime_UTR_premature_start_codon_gain EMR3 1 81008 1.23445E-5 40504 0 1.27727E-4
19-14769322-C-T c.393+3G>A splice_region EMR3 6 81050 7.40284E-5 40525 0 8.3131E-6
19-14769324-C-T c.393+1G>A splice_donor EMR3 1 81104 1.23298E-5 40552 0 1.66182E-5
19-14769338-T-C p.Glu127Gly missense EMR3 1 81252 1.23074E-5 40626 0 8.99337E-6
19-14769338-TC-CG p.Glu127Arg missense EMR3 1 81252 1.23074E-5 40626 0 NA
19-14769339-C-G p.Glu127Gln missense EMR3 60656 80220 0.756121 40110 23232 0.798858
19-14769339-C-T p.Glu127Lys missense EMR3 2 81260 2.46124E-5 40630 0 NA
19-14769345-T-G p.Thr125Pro missense EMR3 167 81290 0.00205437 40645 1 0.00435512
19-14769348-T-C p.Lys124Glu missense EMR3 1 81300 1.23001E-5 40650 0 NA
19-14769356-G-A p.Thr121Ile missense EMR3 2 81120 2.46548E-5 40560 0 NA
19-14769361-G-A p.Asp119Asp splice_region+synonymous EMR3 1 80956 1.23524E-5 40478 0 4.57896E-6
19-14772773-A-C c.355+2T>G splice_donor EMR3 3 83328 3.60023E-5 41664 0 9.89495E-5
19-14772775-C-T p.Asp119Asn missense+splice_region EMR3 2 83336 2.39992E-5 41668 0 3.18471E-5
19-14772775-C-G p.Asp119His missense+splice_region EMR3 4 83336 4.79985E-5 41668 0 1.89628E-4
19-14772783-G-A p.Thr116Ile missense EMR3 3 83350 3.59928E-5 41675 0 1.91034E-4
19-14772788-C-T p.Glu114Glu synonymous EMR3 1 83354 1.1997E-5 41677 0 NA
19-14772792-T-C p.Asn113Ser missense EMR3 1 83348 1.19979E-5 41674 0 2.47202E-5
19-14772797-A-G p.Asn111Asn synonymous EMR3 146 83346 0.00175173 41673 0 0.00140074
19-14772800-A-C p.Ser110Arg missense EMR3 1 83346 1.19982E-5 41673 0 1.59106E-5
19-14772801-C-G p.Ser110Thr missense EMR3 1 83346 1.19982E-5 41673 0 NA
19-14772845-T-C p.Gln95Gln synonymous EMR3 4 83338 4.79973E-5 41669 0 9.55536E-5
19-14772847-G-C p.Gln95Glu missense EMR3 1 83334 1.19999E-5 41667 0 NA
19-14772850-A-G p.Cys94Arg missense EMR3 1 83332 1.20002E-5 41666 0 NA
19-14772865-C-G p.Glu89Gln missense EMR3 1 83330 1.20005E-5 41665 0 NA
19-14772866-G-A c.-231C>T 5_prime_UTR_premature_start_codon_gain EMR3 1 83326 1.20011E-5 41663 0 1.19304E-5
19-14772868-C-A p.Val88Phe missense EMR3 1 83330 1.20005E-5 41665 0 2.47109E-5
19-14772869-A-T p.Asn87Lys missense EMR3 1 83332 1.20002E-5 41666 0 7.95361E-6
19-14772871-T-C p.Asn87Asp missense EMR3 2 83334 2.39998E-5 41667 0 NA
19-14772878-C-T c.-243G>A 5_prime_UTR_premature_start_codon_gain EMR3 3079 83250 0.036985 41625 76 0.045808
19-14772883-C-T p.Ala83Thr missense EMR3 1 83316 1.20025E-5 41658 0 9.55414E-5
19-14772903-C-T p.Ser76Asn missense EMR3 1 83260 1.20106E-5 41630 0 1.64796E-5
19-14772905-A-G p.Tyr75Tyr synonymous EMR3 1 83260 1.20106E-5 41630 0 NA
19-14772910-G-A p.Pro74Ser missense EMR3 1 83256 1.20111E-5 41628 0 NA
19-14772923-A-G p.Asn69Asn synonymous EMR3 1 83148 1.20267E-5 41574 0 7.98537E-6
19-14772933-G-A c.200-3C>T splice_region EMR3 1 83050 1.20409E-5 41525 0 3.18573E-5
19-14772935-A-G c.200-5T>C splice_region EMR3 1 83046 1.20415E-5 41523 0 1.1979E-5
19-14772937-C-T c.200-7G>A splice_region EMR3 11 83040 1.32466E-4 41520 0 2.86679E-4
19-14774230-C-T p.Asp67Asn missense+splice_region EMR3 16 81994 1.95136E-4 40997 0 1.18717E-4
19-14774240-C-G p.Glu63Asp missense EMR3 2 82930 2.41167E-5 41465 0 NA
19-14774243-C-T p.Leu62Leu synonymous EMR3 3 82950 3.61664E-5 41475 0 1.99097E-5
19-14774263-T-C p.Lys56Glu missense EMR3 3 83236 3.60421E-5 41618 1 1.19342E-5
19-14774285-T-C p.Gly48Gly synonymous EMR3 1 83320 1.20019E-5 41660 0 NA
19-14774297-G-A c.-363C>T 5_prime_UTR_premature_start_codon_gain EMR3 1 83344 1.19985E-5 41672 0 NA
19-14774300-G-A p.Cys43Cys synonymous EMR3 1 83340 1.1999E-5 41670 0 5.03525E-4
19-14774302-A-G p.Cys43Arg missense EMR3 1 83340 1.1999E-5 41670 0 3.97735E-6
19-14774308-T-C p.Thr41Ala missense EMR3 2 83330 2.4001E-5 41665 0 8.24321E-6
19-14774314-T-C p.Asn39Asp missense EMR3 1 83316 1.20025E-5 41658 0 8.24389E-6
19-14774321-G-A c.-387C>T 5_prime_UTR_premature_start_codon_gain EMR3 1 83304 1.20042E-5 41652 0 8.24579E-5
19-14774324-A-G p.Ala35Ala synonymous EMR3 1 83296 1.20054E-5 41648 0 1.98877E-5
19-14774329-T-C p.Asn34Asp missense EMR3 1 83268 1.20094E-5 41634 0 6.37024E-5
19-14774353-C-G c.77-1G>C splice_acceptor EMR3 1 83022 1.2045E-5 41511 0 3.18654E-5
19-14774359-G-T c.77-7C>A splice_region EMR3 1 82958 1.20543E-5 41479 0 1.65207E-5
19-14779522-C-G p.Leu56Leu synonymous EMR3 1 80902 1.23606E-5 40451 0 NA
19-14779535-C-T p.Gly52Glu missense EMR3 3 81286 3.69067E-5 40643 0 1.49151E-5
19-14779550-C-A p.Gly47Val missense EMR3 52143 71588 0.728376 35794 18878 0.799247
19-14779552-A-T p.His46Gln missense EMR3 1 82332 1.21459E-5 41166 0 NA
19-14779554-G-T p.His46Asn missense EMR3 1 82368 1.21406E-5 41184 0 1.21541E-5
19-14779558-G-A p.Ala44Ala synonymous EMR3 3 82460 3.63813E-5 41230 0 3.18532E-5
19-14779582-A-C p.Cys36Trp missense EMR3 1 83046 1.20415E-5 41523 0 NA
19-14779584-A-G p.Cys36Arg missense EMR3 21 83070 2.52799E-4 41535 0 0.00188679
19-14779617-T-C p.Lys25Glu missense EMR3 1 83294 1.20057E-5 41647 0 1.65492E-5
19-14779633-A-T p.Ala19Ala synonymous EMR3 1 83316 1.20025E-5 41658 0 NA
19-14779646-C-T p.Ser15Asn missense EMR3 1 83314 1.20028E-5 41657 0 NA
19-14785556-A-G c.25+2T>C splice_donor EMR3 1 83396 1.1991E-5 41698 0 NA
19-14785558-C-G p.Gly9Arg missense+splice_region EMR3 4 83396 4.79639E-5 41698 0 9.91179E-5
19-14785594-G-A c.-12C>T 5_prime_UTR_premature_start_codon_gain EMR3 6 83366 7.19718E-5 41683 0 1.59388E-5
19-14785604-C-G c.-22G>C 5_prime_UTR_premature_start_codon_gain EMR3 2 83336 2.39992E-5 41668 0 NA
19-14785637-G-A c.-55C>T 5_prime_UTR_premature_start_codon_gain EMR3 5 83118 6.01554E-5 41559 0 6.25E-4